Mitochondrial DNA A–Z: A Step-by-Step Guide to Matches, Mitotree, and mtDNA Discover

People have been asking for a step-by-step guide for mitochondrial DNA, and here it is!

This article steps testers through all their results, page by page, including a dozen Discover reports, explaining what the information in each tool means. There’s SO MUCH great content provided, and you’ll want to absorb every tidbit.

This is meant to be a roadmap for you – a recipe card to follow to get the most out of your results.

You can either read through this article once, then sign on to your own account, or sign on now and follow along. Yes, this article is long, but it’s also a one-stop shop when you want information about any page or feature. Refer back to this article as needed, and feel free to forward it to others when they receive their results.

I’ve also provided additional resources for you at each step of the way, along with many tips and suggestions to help you help yourself.

I’m using the LeJeune sisters of Acadia as my example – in part because there were several questions about their heritage – including whether they were actually sisters, whether they were Native American, and if a third woman was also a sister.

Think about why you tested, and what you hope to learn so you know where to focus.

Everyone has their own motivation for testing, and we all want to extract as much information as possible. Some answers are genetic – thanks to mitochondrial, Y-DNA, and autosomal testing. Some answers are historical and genealogical. All of them need to mesh nicely together and confirm each other.

When they don’t, if they don’t, we need to understand how to discern the truth.

Every Ancestor Has a Mitochondrial DNA Story to Tell You

Sometimes it’s not our own results we’re analyzing, but the results of another tester – a cousin whose mitochondrial DNA represents a particular shared ancestor. We aren’t restricted to just our own mitochondrial DNA to decipher our ancestors’ stories.

What messages and secrets do those ancestors have to tell us? Our results read like the very best mystery novel ever – except it’s not a novel – it’s fact. And it’s ours!

Mitochondrial DNA is only passed from mothers to their children, never admixed or combined with the DNA of the father, so your mitochondrial DNA today is either exactly the same as that of your ancestors a few generations ago, or very close if a mutation has occurred between when they lived and today’s tester.

One of mitochondrial DNA’s strengths is that it can reach far back in time, it’s message undiluted and uninterrupted by recombination.

The messages from our ancestors are very clear. We just need to understand how to hear what they are telling us.

Step-by-Step Soup to Nuts

We will analyze the mitochondrial DNA results of multiple testers who descend from the LeJeune sisters, Edmee and Catherine, born in 1624 and 1633, respectively, to see what they have to tell their descendants. For a very long time, rumors abounded that their mother was Native American, so we will keep that in mind as we review all matching, Mitotree and mtDNA Discover tools provided by FamilyTreeDNA.

We will also learn how to evaluate seemingly conflicting information.

Soup to nuts – we will incorporate every sliver of information along the way and extract every morsel that can help you. Think of this article as your recipe and the reports and information as ingredients!

To be clear, you don’t HAVE to read all of this or decipher anything if you don’t want to. You can just glance at the matches and be on your way – but if you do – you’re leaving an incredible amount of useful information on the table, along with MANY hints that you can’t find elsewhere.

If there was an out-of-print book about this ancestral line in a rare book collection someplace, as a genealogist, you would drive half-way across the country to access that information. This is your rare book, that updates itself, and you don’t have to do anything other than take a mitochondrial DNA test, or find a cousin to take one for lines you don’t carry..

Come along and join the fun! Your ancestors are waiting!

The LeJeune Question

Recently, I wrote about my ancestor Catherine LeJeune, who was born about 1633, probably in France before her family settled in Acadia, present-day Nova Scotia.

The identity of her parents has been hotly contested and widely debated for a long time.

I intentionally did not address her DNA results in that article because I wanted to establish the historical facts about her life and address her mitochondrial DNA separately. The process we are following to analyze her DNA results is the same process everyone should follow, which is why we are taking this step-by-step approach, complete with detailed explanations.

Often, when people hit a brick wall with an ancestor, especially during European colonization of the Americas, someone suggests that the person surely “must be” Native American. Lack of records is interpreted to add layers of evidence, when, in fact, absence of evidence is not evidence of absence.

For example, for many of the earliest French Acadians, birth and baptism records have NOT been located in France, where massive record loss has been experienced.

Additionally, not all records that do exist have been indexed, transcribed, or digitized. Many are damaged and/or nearly impossible to read. Lack of records does NOT mean that those settlers weren’t French, or in this case, it does NOT indicate that they were Native American. It simply means we are lacking that piece of evidence.

Enter mitochondrial DNA.

This article is focused on how to use mitochondrial DNA to decode these messages from our ancestors. I’m providing a very short summary of the relevant historical factors about the LeJeune sisters so readers can keep this in mind as we review the 17+ tools waiting for us when mitochondrial DNA results are ready.

The First Acadian Settlers

The Acadians were French settlers in what is today Nova Scotia. The first Acadians arrived in LaHeve (LaHave), on the southern coast of Acadia, in 1632 after Acadia was returned to France from English control. There may or may not have been any French families in the original group, but if so, very few. In 1636, another group of settlers arrived, but no LeJeune is on the roster.

At the end of 1636, the fledgling Acadian colony was moved from LaHeve, on the southern coast, to Port Royal, a more protected environment.

While we don’t know exactly when the family of Catherine and Edmee LeJeune arrived, we can bracket the dates. We know that Catherine’s sister, Edmee LeJeune, born about 1624, married another settler, Francois Gautrot, about 1644 in Port Royal, so they had arrived by that time.

Edmee’s 1624 birth year is important for two reasons. First, there were no French settlers in the part of Acadia that became Nova Scotia in 1624, so that clearly demonstrates that Edmee was born in France.

It’s unlikely that Catherine was born in Acadia in 1633 given that the first known families arrived in 1636, and we have their names from the ship roster. Pierre Martin was on the 1636 ship, and Acadian history tells us that his son, Mathieu Martin, was the first French child born in Acadia, about 1636, based on the 1671 census.

We also know that there was an early Acadian man, Jean LeJeune, who was granted land at BelleIsle, near Port Royal, among other Acadian families, but he was deceased before the first Acadian census in 1671. Acadia was under English control again from 1654 to 1670, so Jean LeJeune’s land grant had to have occurred after 1636 and prior to 1654, and is where Catherine LeJeune is found as an adult.

Another source of confusion is that there is a third LeJeune woman, Jeanne LeJeune dit Briard, born about 1659. Her daughter, Catherine Joseph’s 1720 marriage record in Port Royal refers to her mother, Jeanne, as being “d’un nation sauvagé”, giving her parents’ names as Francois Joseph and Jeanne LeJeune “of the Indian Nation.” Jeanne LeJeune dit Briard lived with her first husband in Port Royal, but had relocated to LaHeve by 1708.

You can see why this led to confusion about LeJeune females.

Another male, Pierre LeJeune was associated with LaHeve, which suggests he may have been awarded land there, possibly before the colony moved to Port Royal. One of the reasons that the rumor that Catherine LeJeune had a Native mother is so persistent is the belief that Pierre came over early, as a laborer or soldier, and married a Native woman because there weren’t any European women available.

Pierre may well have arrived as a single man, but there is no shred of evidence to suggest Pierre is the father of the sisters, Catherine LeJeune and Edmee LeJeune. In fact, given that Jeanne was born about 1659, Pierre, if he was her father, may have been born as late as 1627, which makes it impossible for him to have been Catherine and Edmee’s father.

That speculation was before the advent of DNA testing, and before Stephen White discovered that there was also a Jean LeJeune who was awarded land exactly where Catherine is known to have been living a few years later.

While it would be nice to unravel this entire cat’s cradle of confusion, the questions we are seeking to answer definitively here are:

  • Are Catherine LeJeune (born 1633) and Edmee LeJeune (born 1624) actually sisters?
  • Is the mother of Catherine LeJeune and her sister, Edmee LeJeune, Native American or European?
  • Is Jeanne LeJeune dit Briard, born about 1659, “d’un nation sauvagé” another sister of the LeJeune sisters?
  • What else is revealed about the LeJeune sisters and their ancestors? Is there something else we should know?

I’ll provide a summary of the combined evidence after our step-by-step mitochondrial analysis.

Testing for Sisters

Mitochondrial DNA is passed from mothers to all of their children, but only females pass it on.

Since we have two LeJeune females, believed to be sisters, we need mitochondrial DNA from direct matrilineal testers for each woman. This is particularly important because we know unquestionably that Edmee was born in France in 1624, prior to Acadian settlement in New France, so her DNA should be European. If they match, it means that Catherine was born to the same mother who was not Native. If they don’t match, there’s a different message.

In some cases, a match might mean that they were born to females related on the matrilineal line, like first cousins, for example. But in the early days of Acadia, there were no European females other than the handful, less than a dozen, who arrived on the Saint-Jehan in 1636.

Fortunately, we have multiple testers for each woman in two DNA projects at FamilyTreeDNA, the only DNA testing company that provides mitochondrial DNA testing and matching. Testers can join special interest projects, and both the Mothers of Acadia Project, and the Acadian AmerIndian Project have testers who descend from the LeJeune sisters.

I’ve identified 28 descendants of Catherine, and 25 from Edmee, giving us a total of 53 known matrilineal descendants to work with. Not all are shown publicly, in projects. Catherine has a known total of 14 testers, and Edmee has 17 that are shown publicly. All testers are members of haplogroup U6a7a1a.

The fact that the descendants of these women match each other, often exactly, combined with Catholic parish register dispensations for their descendants, when taken together, prove conclusively that Catherine and Edmee were sisters, not paternal half-sisters.

Let’s look at each piece of evidence.

Mitochondrial DNA Results

When the lab finishes processing the mtFull test, the results are posted to the account of the test taker.

Click on any image to enlarge

You’ll see the Maternal Line Ancestry section which displays your mitochondrial mtDNA Results.

The three tabs we will be primarily working with are:

  • mtDNA Matches
  • Matches Maps
  • Discover Haplogroup Reports, which includes another dozen+ reports and an updated Migration Map
  • Advanced Matching

At the bottom right of your page, you’ll see two haplogroup badges.

The one at right is called the “Legacy” haplogroup, which means the haplogroup you were assigned prior to the release of the new Mitotree.

The Mitotree mtDNA Haplogroup, with the green “Beta” at the bottom, is the new Mitotree haplogroup, which I wrote about in a series of articles:

Your old Legacy haplogroup will never change, because it’s the 2016 version that was not updated by the previous tree-keepers. That’s why the FamilyTreeDNA R&D team, me included, developed and birthed the new Mitotree. There were thousands of new haplogroups that could be defined to kick-start our genealogy, so we did.

The mitochondrial tree went from about 5000 branches to over 40,000 in the new Mitotree, each providing additional information to testers.

Not everyone received a new haplogroup, but about 75% of testers did, and another new Mitotree version will be released soon. In order to receive a new haplogroup, testers needed to:

  • Have at least one qualifying, stable mutation that had not been previously used to define a haplogroup
  • Match at least one other person in the same haplogroup branch with the same mutation(s)

In the case of the LeJeune sisters, there were no mutations that met all of the qualifications, so their known descendants did not receive a new haplogroup. That’s fine, though, because it’s not the name but the messages held by the information that’s important – and there’s a LOT to work with.

Let’s start with matches.

Matches

Of course, the first thing everyone does is click to see their matches.

The default is Detail View, but I prefer Table View (top left) because you can see more matches on the same page.

Catherine’s descendant whose matches are shown here has 108 Full Sequence matches, which are labeled as the “Coding Region.” The Coding Regions is the mtFULL test and includes both the HVR1 and HVR2 regions. Viewing Coding Region matches means they have taken the mtFull test, which sequences all 16,569 locations of the mitochondria.

When you click on the “Coding Region”, you are seeing matches to people who took all three test levels, not just the first one or two.

There are three test levels to view:

  1. HVR1
  2. HVR1+HVR2 both
  3. Coding Region, which is in addition to the HVR1+HVR2 regions

You can no longer order three different test levels today, although at one time you could. As costs decreased, it no longer made sense to offer multiple testing levels, and often the HVR1 or HVR1+HVR2 results, which only tested about 500 locations each, would confuse people.

People at the lower HVR1 or HVR1+HVR2 levels, known as mtPlus, can upgrade to the complete mtFull level, and should.

However, because some people only tested at those lower levels, matches are still shown at three levels, with different match thresholds for each level.

Matches at the HVR1 or HVR1+HVR2 levels *might* be entirely irrelevant, reaching back thousands of years. They could also be much more current, and critical to your genealogy, so don’t assume. Just one unstable mutation can cause a mismatch though, and at lower levels, cause you not to match someone with the same ancestor, which is why the full sequence test is so critically important.

For some testers, matches at lower levels sometimes provide the ONLY match to your known ancestor. So don’t skip over them. If you find a critical match there, you can email the tester to see if they will upgrade to the mtFull test.

People who test only at the HVR1 or HVR1+HVR2 level receive a more refined haplogroup after they upgrade, so the haplogroups between the HVR1/HVR2 testers and the full sequence test won’t match exactly. For the LeJeune sisters, the haplogroup for HVR1/HVR2-only testers is U6a and for full sequence testers, it’s U6a7a1a.

While full sequence matches are wonderful, if you’re searching for a particular ancestor and the ONLY place they appear is the HVR1 or HVR1+HVR2 testing levels, you’ll want to pursue the match. You may also want to evaluate lower level matches if their ancestors are from a specific location – like France – even if their earliest known ancestor (EKA) is not your ancestor.

To view your  HVR1 or HVR1+HVR2 matches, just click on either of those links. You’ll see ALL of the results, including everyone who took the full sequence test. In this case, that means that the 217 HVR1 (hypervariable region 1) results will include the 120 coding region (full sequence) tests. I’ve already looked through the full sequence matches, so that’s not what I want.

If you ONLY want to see testers who did NOT take the Full Sequence test, use the Filter option. Select Filter, then the features you seek.

Fortunately, the LeJeune sisters have lots of known descendants at the mtFull level to work with, so we will focus on their full sequence matches.

Your Focus

On the matches page, you’ll be immediately interested in two fields:

  • Maternal Earliest Known Ancestor (EKA) – the direct matrilineal ancestor of your match – unless they got confused and entered someone else
  • Their Tree

Viewing the first several matches only produced one match to someone whose earliest known ancestor (EKA) is listed as Catherine or Edmee LeJeune, but perhaps the next group will be more productive. Note that females’ EKAs, earliest known ancestors, are sometimes challenging, given surname changes. So unfamiliar EKAs could represent generational differences and sometimes offer other hints based on their information.

Shifting to the detail view for a minute, you’ll want to review the genetic distance,  meaning whether you’re an exact match or not.

If you’re not an exact match, a genetic distance of “1 step” means that you match except for one mutation at a specific location.

If you have a genetic distance greater than 3, meaning 4 mutations or more, you won’t be shown as a match on this match list. However, you can still be a haplogroup match, which we’ll discuss in the Discover section.

Essentially, with more than 3 mutations difference, it’s unlikely (but not impossible) that your match is genealogically relevant – meaning you probably won’t be able to identify your most recent common ancestor (MRCA).

However, that doesn’t mean that haplogroup-only matches can’t provide important clues, and we will look under every rock!

A Slight Detour – Confirmation Bias

This is a good place to mention that both ancestors and their location (country) of origin are provided by (some) testers to the best of their ability and understanding.

This tester selected “United States Native American” as the location for their earliest known ancestor. We don’t know why they entered that information. It could be that:

  • The tester did not understand that the maternal country of origin means the direct MATRILINEAL line, not just someplace on the maternal side
  • Selina Sinott was Native on her father’s side, or any line OTHER than her direct matrilineal line.
  • They relied on oral history or made a guess
  • They found the information in someone else’s tree
  • They found all of the LeJeune information confusing (because it is)

The tester has provided no tree, so we can’t do any sleuthing here, but an Ancestry search shows a woman by that name born in 1855 in Starksboro, VT to Louis Senott and Victoria Reya. A further search on Victoria leads me to Marie Lussier who leads me to Marguerite Michel who leads me to Marie Anne Lord (Lore, Laure), who lived in Acadia, whose ancestor is…drum roll…Catherine LeJeune. You get the idea.

Yes, you may need to extend other people’s trees.

The Point

However, and this is the point – if you’re looking for confirmation that the LeJeune sisters were Native American, this ONE tester who entered Native American for an unknown reason is NOT the confirmation you’re looking for. Don’t get sucked into confirmation bias, or into categorically believing what someone else entered without additional information.

You need haplogroup confirmation, but, in this case, you don’t have it. However, if you’re new to genetic genealogy, you don’t know that yet, so hold on. We’re still getting there. This is why we need to review all of the reports.

And trust me, I’m not being critical because there isn’t a single seasoned genealogist who has NOT fallen down the rathole of excited confirmation bias or accepting information without further analysis – me included. We all need to actively guard against it, all the time. Confirm and weigh all of the evidence we do have, and seek missing evidence.

Let’s go back to the match results.

Matches – Haplogroups and Haplotypes

Scrolling down the Table View, the next group of matches shows many more matches to descendants of both Catherine and Edmee LeJeune.

Next, you’ll notice that there’s a Mitotree haplogroup, U6a7a1a, AND an F number. In this case, they are both checked in blue, which means you share the exact same haplogroup with that tester, and the exact same haplotype cluster, which is the F number.

I wrote about haplotype clusters, here.

If NEITHER box is checked, you don’t share either the haplogroup nor the haplotype cluster.

You can match the haplogroup, but not the haplotype cluster, which means the haplogroup box will be checked, but the haplotype cluster will not. If you share the same haplotype cluster, you WILL share the same haplogroup, but the reverse is not true.

What is a Haplotype Cluster, and why do they matter?

Haplotype Clusters

We need to talk about exact matches and what they mean. Yes, I know it seems intuitive, but it isn’t.

There are three types of matches

  • Matching and Genetic Distance on your Match List
  • Haplotype matching
  • Haplogroup matching

Without getting (too much) into the weeds, an Exact Match in the Genetic Distance column on your match list excludes locations 309 and 315 because they are too unstable to be considered reliable for matching. So, 309 and 315 are EXCLUDED from this type of matching. In other words, you may or may not match at either or both of those locations. They are ignored for matching on your match list.

Locations 309 and 315 are also EXCLUDED from haplogroup definitions.

A haplotype F cluster match indicates that everyone in that cluster is an exact match, taking into consideration EVERY mutation, INCLUDING 309 and 315.

309 and 315 Why
Matching and Genetic Distance Excluded Unstable, probably not genealogically relevant and may be deceptive, leading you down a rathole
Haplogroup Definition Excluded Too unstable for tree branching and definition
Haplotype F Clusters Included Might be genealogically useful, so everyone can evaluate the rathole for themselves

Some people think that if they don’t match someone exactly, they can’t have the same ancestor as people who do match exactly, but that’s not true. “Mutations happen” whenever they darned well please. Downstream mutations in stable locations that match between two or more testers will form their own haplogroup branch.

The most distant matches are shown on the last match page, and as you can see below, some descendants of Catherine and Edmee LeJeune have a 1-step difference with our tester, meaning a genetic distance of one, or one mutation (disregarding 309 and 315). One match has a 2-step mutation.

The fact that their F numbers are not the same tells you that their mutations are different from each other, too. If two of those people also matched each other, their F# would be identical.

The mutations that do not (yet) form a haplogroup, and are included in your haplotype cluster, are called Private Variants, and you cannot see the private variants of other people. Clearly, you and anyone in your haplotype cluster share all of the same mutations, including Private Variants.

Evaluating Trees and EKAs

By reviewing the matches, their EKAs, and the trees for the matches of Catherine’s descendants, I was able to create a little mini-tree of sorts. Keep in mind that not everyone with an EKA has a tree, and certainly not everyone who uploaded a tree listed an EKA. So be sure to check both resources. Here’s how to add your EKA, and a one-minute video, here.

The good news is that if your match has a WikiTree link when you click on their tree icon, you know their tree actually reaches back to either Edmee or Catherine if that’s their ancestor, and you’re not dealing with a frustrating, truncated two or three-generation tree, or a private tree. You can add your WikiTree link at FamilyTreeDNA here, in addition to any other tree you’ve linked.

Takeaways from Matches

  • You can identify your common ancestor with other testers. By viewing people’s trees and emailing other testers, you can often reconstruct the trees from the tester back through either Catherine or Edmee LeJeune.
  • Your primary focus should be on the people in your haplotype cluster, but don’t neglect other clusters where you may find descendants of your ancestor.
  • If you see a male EKA name, or something other than a female name in the EKA field, like a location, the tester was confused. Only females pass their mitochondrial DNA to their descendants.
  • If you’re searching for an ancestor whose mitochondrial DNA you don’t carry, use projects and WikiTree to see if you can determine if someone has tested from that line. From viewing the project results, I already knew that the LeJeune sisters had several descendants who had tested.
  • If you’re searching for your ancestor on your match list, and you don’t find them in the full sequence results, use the filter to view people who ONLY took the HVR1 and HVR1+HVR2 tests to see if the results you seek are there. They won’t be on your full sequence match list because they didn’t test at that level. Testers at the lower levels will only have a partial, estimated haplogroup – in this case, U6a.
  • For Edmee and Catherine LeJeune, we have enough testers to ensure that we don’t have just one or two people with the same erroneous genealogy. If you do find someone in a project or at WikiTree claiming descent from the same ancestor, but with a different haplogroup, you’ll need to focus on additional research to verify each step for all testers.

Resources:

Matches Maps

The Matches Map is a great visual resource. That “picture is worth 1000 words” tidbit of wisdom definitely applies here.

Clicking on the Matches Maps displays the locations that your matches entered for their EKA.

In the upper left-hand corner, select “Full Sequence,” and only the full sequence matches will be displayed on the map. All full sequence testers also have HVR1/HVR2 results, so those results will be displayed under that selection, along with people who ONLY took the HVR1 or HVR1/HVR2 tests.

We know that the Acadians originally came from France, and their descendants were forcibly expelled from Nova Scotia in 1755. Families found themselves scattered to various locations along the eastern seaboard, culminating with settlements in Louisiana, Quebec, and in some cases, back in France, so this match distribution makes sense in that context.

Be sure to enlarge the map in case pins are on top of or obscuring each other.

Some people from other locations may be a match, too. Reviewing their information may assist with breaking down the next brick wall. Sometimes, additional analysis reveals that the tester providing the information was confused about what to complete, e.g., male names, and you should disregard that pin.

Takeaways from the Matches Map

  • These results make sense for the LeJeune sisters. I would specifically look for testers with other French EKAs, just in case their information can provide a (desperately needed) clue as to where the LeJeune family was from in France.

  • Reviewing other matches in unexpected locations may provide clues about where ancestors of your ancestor came from, or in this case, where descendants of the LeJeune sisters wound up – such as Marie Josephe Surette in Salem, Massachusetts, Catherine LeJeune’s great-granddaughter.
  • Finding large clusters of pins in an unexpected location suggests a story waiting to be uncovered. My matrilineal ancestor was confirmed in church records in Wirbenz, Germany, in 1647 when she married, but the fact that almost all of my full sequence matches are in Scandinavia, clustered in Sweden and Norway, suggests an untold story, probably involving the 30 Years War in Germany that saw Swedish troop movement in the area where my ancestor lived.
  • For my own mitochondrial DNA test, by viewing trees, EKAs, and other hints, including email addresses, I was able to identify at least a country for 30 of 36 full sequence matches and created my own Google map.
  • You can often add to the locations by creating your own map and including everyone’s results.

Resources:

Mitochondrial DNA Part 4 – Techniques for Doubling Your Useful Matches

Mitochondrial DNA Myth – Mitochondrial DNA is not Useful because the Haplogroups are “Too Old”

Before we move to the Discover Reports, I’m going to dispel a myth about haplogroups, ages, genealogical usefulness, and most recent common ancestors known as MRCAs.

Let me start by saying this out loud. YES, MITOCHONDRIAL DNA IS USEFUL FOR GENEALOGY and NO, OLDER HAPLOGROUPS DO NOT PREVENT MITOCHONDRIAL DNA FROM BEING USEFUL.

Here’s why.

The most recent common ancestor (MRCA) is the person who is the closest common ancestor of any two people.

For example, the mitochondrial DNA MRCA of you and your sibling is your mother.

For your mother and her first cousin, the mitochondrial MRCA is their grandmother on the same side, assuming they both descend from a different daughter. Both daughters carry their mother’s undiluted mitochondrial DNA.

A common complaint about mitochondrial DNA is that “it’s not genealogically useful because the haplogroups are so old” – which is absolutely untrue.

Let’s unravel this a bit more.

The MRCA of a GROUP of people is the first common ancestor of EVERY person in the group with each other.

So, if you’re looking at your tree, the MRCA of you, your sibling, and your mother’s 1C in the example above is also your mother’s grandmother, because your mother’s grandmother is the first person in your tree that ALL of the people in the comparison group descend from.

Taking this even further back in time, your mother’s GGG-grandmother is the MRCA for these five people bolded, and maybe a lot more descendants, too.

At that distance in your tree, you may or may not know the name of the GGG-grandmother and you probably don’t know all of her descendants either.

Eventually, you will hit a genealogical brick wall, but the descendants of that unknown “grandmother” will still match. You have NOT hit a genetic brick wall.

A haplogroup name is assigned to the woman who had a mutation that forms a new haplogroup branch, and she is the MRCA of every person in that haplogroup and all descendant haplogroups.

However, and this is important, the MRCA of any two people, or a group of people may very well be downstream, in your tree, of that haplogroup mother.

As you can clearly see from our example, there are four different MRCAs, depending on who you are comparing with each other.

  • Mom – MRCA of you and your sibling
  • Grandmother – MRCA of you, your sibling, your mom and your mom’s 1C
  • GGG-Grandmother – MRCA of all five bolded descendants
  • Haplogroup formation – MRCA of ALL tested descendants, and all downstream haplogroups, many of whom are not pictured

Many of the testers may, and probably do, form haplotype clusters beneath this haplogroup.

When you are seeking a common ancestor, you really don’t care when everyone in that haplogroup was related, what you seek is the common ancestor between you and another person, or group of people.

If the haplogroup is formed more recently in time, it may define a specific lineage, and in that case, you will care because that haplogroup equates to a woman you can identify genealogically. For example, let’s say that one of Catherine LeJeune’s children formed a specific haplogroup. That would be important because it would be easy to assign testers with that haplogroup to their appropriate lineage. That may well be the case for the two people in haplogroup U6a7a1a2, but lack of a more recent haplogroup for the other testers does not hinder our analysis or reduce mitochondrial DNA’s benefits.

That said, the more people who test, the more possibilities for downstream haplogroup formation. Currently, haplogroup U6a7a1a has 34 unnamed lineages, just waiting for more testers.

Haplogroup ages are useful in a number of ways, but haplogroup usefulness is IN NO WAY DEPRICATED BY THEIR AGE. The haplogroup age is when every single person in that haplogroup shares a common ancestor. That might be useful to know, but it’s not a barrier to genealogy. Unfortunately, hearing that persistent myth causes people to become discouraged, give up and not even bother to test, which is clearly self-defeating behavior. You’ll never know what you don’t know, and you won’t know if you don’t test. That’s my mantra!

The LeJeune sisters provide a clear example.

OK, now on to Discover.

mtDNA Discover

Next, we are going to click through from the mtDNA Results and Tools area on your personal page to Discover Haplogroup Reports. These reports are chapters in your own personal book, handed down from your ancestors.

Discover is also a freely available public tool, but you’ll receive additional and personalized information by clicking through when you are signed into your page at FamilyTreeDNA. Only a subset is available publicly.

mtDNA Discover was released with the new Mitotree and provides fresh information weekly.

Think of Discover as a set of a dozen reports just for your results, with one more, Globetrekker, an interactive haplogroup map, coming soon.

Resources:

When you click through to Discover from your results, Discover defaults to your haplogroup. In this case, that’s U6a7a1a for the LeJeune sisters.

Let’s begin with the first report, Haplogroup Story.

Haplogroup Story

The Haplogroup Story is a landing page that summarizes information about your ancestor’s haplogroup relevant to understanding your ancestor’s history. Please take the time to actually READ the Discover reports, including the information buttons, not just skim them.

Think of Discover as your own personalized book about your ancestors – so you don’t want to miss a word.

You’ll see facts on the left, each one with a little “i” button. Click there or mouse over for more information about how that fact was determined.

When we’re talking about haplogroup U6a7a1a, it sounds impersonal, but we’re really talking about an actual person whose name, in this case, we will never know. We can determine the ancestor of some haplogroups that formed within a genealogical timeframe. The LeJeune ancestor in question is the person in whose generation the final mutation in a long string of mutations created the final “a” in haplogroup U6a7a1a.

Think of these as a long line of breadcrumbs. By following them backwards in time and determining when and where those breadcrumbs were dropped, meaning when and where the mutation occurred, we begin to understand the history of our ancestor – where she was, when, and which cultures and events shaped her life.

U6a7a1a was formed, meaning this ancestor was born, about 50 CE, so about 1950 years ago. This means that the ancestor of ANY ONE PERSON with this haplogroup could have lived anytime between the year 50 CE and the year of their mother’s birth.

This is VERY important, because there is an incredible amount of  misunderstanding about haplogroup ages and what they mean to you.

The year 50 CE is the year that the common ancestor of EVERY PERSON in the haplogroup was born, NOT the year that the common ancestor of any two or more people was born.

By way of illustration, the LeJeune sisters were born in about 1624 and 1633, respectively, not 50 CE, and their most recent common ancestor (MRCA) is their mother, who would have been born between about 1590 and 1608, based on their birth years.

For reference, I’ve created this genealogical tree from individuals who took the mitochondrial DNA test and have identified their mitochondrial lineage on the LeJeune mother’s profile at Wikitree

You can see that both Edmee and Catherine have mitochondrial DNA testers through multiple daughters. I’ve color coded the MRCA individuals within each group, and of course their mother is the MRCA between any two people who each descend from Edmee and Catherine.

Mitochondrial DNA matches to the LeJeune sisters’ descendants could be related to each other anywhere from the current generation (parent/child) to when the haplogroup formed, about 50 CE.

You can easily see that all of these testers, even compared with their most distant relatives in the group, share a common ancestor born between 1590 and about 1608. Other people when compared within the group share MCRAs born about 1717 (blue), 1778 (peach), 1752 (green), 1684 (pink), 1658 (mustard), and 1633 (red).

Soooooo…a haplogroup born in 50 CE does NOT mean that you won’t be able to find any genealogical connection because your common ancestor with another tester was born more than 1900 years ago. It means that the common ancestor of EVERYONE who is a member of haplogroup U6a7a1a (and downstream haplogroups) was born about 50 CE.

The parent haplogroup of U6a7a1a is haplogroup U6a7a1, which was born about 1450 BCE, or about 3450 years ago.

In the graphic, I’ve shown other unknown genealogical lineages from U6a7a1 and also downstream haplogroups.

Haplogroup U6a7a1 is the MRCA, or most recent common ancestor of haplogroup U6a7a1a, and anyone who descends from haplogroup U6a7a1 or any of the 23 downstream lineages from U6a7a1, including 5 descendant haplogroups and 18 unnamed lineages.

The LeJeune haplogroup, U6a7a1a, has 35 descendant lineages. One downstream haplogroup has already been identified – U6a7a1a2 – which means two or more people share at least one common, stable, mutation, in addition to the mutations that form U6a7a1a. Thirty-four other lineages are as yet unnamed.

The fact that there are 34 unnamed lineages means that people with one or more private variants, or unique mutations, are candidates for a new branch to form when someone else tests and matches them, including those variants.

You’re a candidate for a new haplogroup in the future if no one else matches your haplotype cluster number, or, potentially, as the tree splits and branches upstream.

When a second person in a lineage tests, those two people will not only share a common haplotype cluster F#, they will share a new haplogroup too if their common mutation is not excluded because it’s unstable and therefore unreliable.

There are 127 members of haplogroup U6a7a1a today, and their EKAs are noted as being from France, Canada, the US, and other countries that we’ll view on other pages.

Haplogroup U6a7a1a has been assigned two Discover badges:

  • Imperial Age – “an age noted for the formation and global impact of expansive empires in many parts of the world.” In other words, colonization, which is certainly true of the French who battled with the English to colonize New England, Acadia, and New France.
  • mtFull Confirmed (for testers only)

Additionally, the LeJeune sisters have one Rare Notable Connection, and three Rare Ancient Connections, all of which may shed light on their history.

Takeaways from the Haplogroup Story

  • The Haplogroup Story provides an overview of the haplogroup
  • You can easily see how many testers fall into this haplogroup and where they have indicated as the origin of their matrilineal line.
  • The haplogroup may have several new haplogroup seeds – 34 in this case – the number of unnamed lineages
  • You can share this or other Discover pages with others by using the “share page” link in the upper right-hand corner.
  • Don’t be discouraged by the age of the haplogroup, whether it’s recent or older.

Next, let’s look at Country Frequency.

Country Frequency

Country Frequency shows the locations where testers in haplogroup U6a7a1a indicate that their EKA, or earliest known matrilineal ancestor, is found. The Country Frequency information is NOT limited to just your matches, but all testers in haplogroup U6a7a1a, some of whom may not be on your match list. Remember, only people with 3 mutations difference, or fewer, are on your match list.

Haplogroup distribution around the world is very informative as to where your ancestors came from.

There are two tabs under Country Frequency, and I’d like to start with the second one – Table View.

Table View displays all of the user-provided country locations. Note that the Haplogroup Frequency is the percentage of total testers in which this haplogroup is found in this particular country. These frequencies are almost always quite small and are location-based, NOT haplogroup based.

There are now 40,000 haplogroups, and in haplogroup U, the LeJeune sisters are 6 branches down the tree with U6a7a1a.

In total, 127 testers are members of haplogroup U6a7a1a, and 42 of those claim that their ancestor is from France, which comprises 1% of the people who have taken the full sequence mitochondrial DNA test whose ancestor is from that location.

Let’s do the math so you can see how this is calculated and why it’s typically so small. For our example, let’s say that 8000 people in the database have said their matrilineal ancestor is from France. Of the 127 haplogroup U6a7a1a members, 42 say their ancestor is from France. Divide 42 by 8,000, which is 0.00525, and round to the nearest percentage – which is 1%.

The best aspect of this page is that you can see a nice summary of the locations where people indicate that their earliest known U6a7a1a ancestor was found.

Please note that the last entry, “Unknown Origins,” is the bucket that everyone who doesn’t provide a location falls into. That row is not a total but includes everyone who didn’t provide location information.

These location results make sense for the LeJeune sisters – maybe except for Ireland and Belgium. Some people don’t understand the directions, meaning that a matrilineal ancestor or direct maternal ancestor is NOT your literal “oldest” ancestor on your mother’s side of the tree who lived to be 105, but your mother-to-mother-to-mother-to-mother ancestor, so check to see if these people with unusual locations are in your match list and view their tree or reach out to them.

We don’t know why the person who selected Native American made that choice, but I’d bet it has to do with confusion about the “other” LeJeune female, Jeanne LeJeune dit Briard. Based on Catherine and her sister, Edmee LeJeune’s haplogroup through more than 50 testers, U6a7a1a, Native is incorrect.

Of course, that tester wouldn’t have known that if they completed their EKA information before they tested. Perhaps they entered information based on the stories they had heard, or flawed genealogy, and didn’t think to go back and correct it when their results were ready, indicating that Native was mistaken.

On the “Map View” tab, the locations are shown using a heat map, where the highest percentages are the darkest. Here, both France and Canada are the darkest because that’s the most common selection for this haplogroup with 1% each, while the rest of the countries registered with less <1%.

These colors are comparative to each other, meaning that there is no hard and fast line in the sand that says some percentage or greater is always red.

To summarize these two tables, because this is important:

  • The Table View shows you how many people selected a specific country for their ancestor’s location, but the frequency is almost always very low because it’s based on the total number of testers in the entire database, comprised of all haplogroups, with ancestors from that country.
  • The Map View shows you a heat map for how frequently a particular location was selected, as compared to other locations, for this haplogroup.

To view the difference between adjacent haplogroups, I always compare at least one haplogroup upstream. In this case, that’s the parent haplogroup, U6a7a1.

The Parent Haplogroup

If you look at haplogroup U6a7a1, just one haplogroup upstream, you’ll see that for Mauritania, the total number of U6a7a1 descendants tested is only “1”, but the haplogroup frequency in Mauritania is 10% which means that there are only 10 people who have been tested in the database altogether from Mauritania – and one person is haplogroup U6a7a1.

However, due to substantial under-sampling of the Mauritania population, the frequency for Mauritania, 10%, is higher than any other location.

Also, remember, these are user-reported ancestor locations, and we have no idea if or how these people determined that their ancestor is actually from Mauritania.

Please only enter actual known locations. For example, we don’t want haplogroup U6a7a1 members to look at this informatoin, then add Mauritania as their location because now they “know” that their ancestor is from Mauritania.

On the Map View, Mauritania is dark red because the percentage is so high – never mind that there are only 10 testers who report matrilineal ancestors from there, and only one was U6a7a1.

This map illustrates one reason why taking the full sequence test is important. Viewing partial haplogroups can be deceiving.

Catherine and Edmee LeJeune’s matrilineal descendants who only tested at the HVR1 or HVR1+HVR2 level receive a predicted haplogroup of U6a, born about 21,000 years ago. That’s because the full 16,569 locations of the mitochondria need to be tested in order to obtain a full haplogroup, as opposed to about 500 locations in the HVR1 and HVR1/2, each, respectively.

U6a – The Result for HVR1/HVR2-Only Testers

So, let’s look at what haplogroup U6a reveals, given that it’s what early LeJeune descendants who ordered the lower-level tests will see.

In the Table View for U6a, below, you see that the top 5 counties listed by haplogroup frequency are five North African countries.

A total of 801 people are assigned to haplogroup U6a, meaning the majority, 757, report their ancestors to be from someplace else. If two people from the Western Sahara (Sahrawi) comprise 67% of the people who tested, we know there are only three people who have tested and selected that location for their ancestors.

If you didn’t understand how the display works, you’d look at this report and see that the “top 5” countries are North African, and it would be easy to interpret this to mean that’s where Catherine and Edmee’s ancestors are from. That’s exactly how some people have interpreted their results.

Scrolling on down the Table View, 50 testers report France, and 10 report the US, respectively, with France showing a Haplogroup Frequency of 1% and the US <1%.

The balance of U6a testers’ ancestors are from a total of 57 other countries, plus another 366 who did not select a location. Not to mention that U6a was born 21,000 years ago, and a lot has happened between then and the 1620/1630s when Catherine and Edmee were born to a French mother.

The real “problem” of course is that haplogroup U6a is only a partial haplogroup.

The U6a map shows the highest frequency based on the number of testers per country, which is why it’s dark red, but the Table View reports that the actual number of U6a testers reporting any specific country. France has 50. Next is the US, also with 50, which often means people are brick-walled here. You can view the U6a table for yourself, here.

Why is this relevant for Catherine and Edmee LeJeune? It’s very easy to misinterpret the map, and for anyone viewing U6a results instead of U6a7a1a results, it’s potentially genealogically misleading.

Use Country Frequency with discretion and a full understanding of what you’re viewing, especially for partial haplogroups from HVR1/HVR2 results or autosomal results from any vendor.

If someone tells you that the LeJeune sisters are from someplace other than France, ask where they found the information. If they mention Africa, Morocco or Portugal, you’ll know precisely where they derived the information.

This information is also available on your Maternal Line Ancestry page, under “See More,” just beneath the Matches tab. Haplogroup Origins and Ancestral Origins present the same information in a different format.

Discover is a significant improvement over those reports, but you’ll still need to read carefully, understand the message, and digest the information.

Takeaways from Country Frequency

  • Evaluate the results carefully and be sure to understand how the reports work.
  • Use complete, not partial haplogroups when possible.
  • The Haplogroup Frequency is the number of people assigned to this haplogroup divided by the entire number of people in the database who report that country location for their matrilineal ancestor. It is NOT the percentage of people in ONLY haplogroup U6a7a1a from a specific country.
  • Table view shows the number of testers with this haplogroup, with the percentage calculated per the number of people who have tested in that country location.
  • The Map shows the highest frequency based on the number of testers per country.
  • Use the map in conjunction with the haplogroup age to better understand the context of the message.

Globetrekker, which has not yet been released, will help by tracking your ancestors’ paths from their genesis in Africa to where you initially find that lineage.

Before we move on to the Mitotree, let’s take a minute to understand genetic trees.

About Genetic Trees

The Mitotree is a genetic tree, also called a phylogenetic tree, that generally correlates relatively closely with a genealogical tree. The more testers in a particular haplogroup, the more accurate the tree.

FamilyTreeDNA provides this disclaimer information about the genetic tree. The Mitotree you see is a nice and neat published tree. The process of building the tree is somewhat like making sausage – messy. In this case, the more ingredients, the better the result.

The more people that test, the more genetic information is available to build and expand the tree, and the more accurate it becomes.

The recent Mitotree releases have moved the haplogroup “dates” for the LeJeune sisters from about 21,000 years ago for HVR1/HVR2 U6a testers to 50 CE for full sequence testers, and this may well be refined in future tree releases.

Mutations

Mutations and how to interpret them can be tricky – and this short section is meant to be general, not specific.

Sometimes mutations occur, then reverse themselves, forming a “back mutation”, which is usually counted as a branch defining a new haplogroup. If a back mutation happens repeatedly in the same haplogroup, like a drunken sailor staggering back and forth, that mutation is then omitted from haplogroup branch formation, but is still counted as a mismatch between two testers.

A heteroplasmy is the presence of two or more distinct results for a specific location in different mitochondria in our bodies. Heteroplasmy readings often “come and go” in results for different family members, because they are found at varying threshold levels in different family members, causing mismatches. Heteroplasmies are currently counted only if any person has 20% or greater of two different nucleotides. So, if you have a 19% heteroplasmy read for a particular location, and your sister has 21%, you will “not” have a heteroplasmic condition reported, but she will, and the location will be reported as a mismatch.

If you have a heteroplasmy and another family member does not, or vice versa, it’s counted as as a “mismatch,” meaning you and that family member will find yourselves in different haplotype clusters. Hetroplasmies do not presently define new tree branches. I wrote about heteroplasmies, here.

Takeaways from the Genetic Tree Disclaimer

  • DNA is fluid, mutations happen, and all mutations are not created equal.
  • Thankfully, you really don’t need to understand the nitty-gritty underpinnings of this because the scientists at FamilyTreeDNA have translated your results into reports and features that take all of this into consideration.
  • Testing more people helps refine the tree, which fills in the genetic blanks, refining the dates, and expanding branches of the tree.

Resources:

Ok, now let’s look at the Time Tree

Time Tree

The Time Tree displays your haplogroup on the Mitotree timeline. In other words, it shows us how old the haplogroup is in relation to other haplogroups, and testers.

The Time Tree displays the country locations of the ancestors of testers who are members of that and descendant or nearby haplogroups. You can view the haplogroup U6a7a1a Time Tree, here, and follow along if you wish. Of course, keep in mind that the tree is a living, evolving entity and will change and evolve over time as updated tree versions are released.

Mousing over the little black profile image, which is the person in whom this haplogroup was born, pops up information about the haplogroup. Additionally, you’ll see black bars with a hashed line between them. This is the range of the haplogroup formation date. Additional details about the range can be found on the Scientific Details tab, which we’ll visit shortly.

On your Matches tab, remember that each match has both a haplogroup and a haplogroup cluster F# listed.

On the Time Tree, individual testers are shown at right, with their selected country of origin. In this case, you’ll see the person who selected “Native American” at the top, followed by France, Canada, the US, and other flags.

Haplogroup U6a7a1a includes several haplotype clusters, designated by the rounded red brackets. In this view, we can see several people who have haplotype cluster matches. Everyone has a haplotype assignment, but a haplotype cluster is not formed until two people match exactly.

In the Time Tree view, above, you can see two clusters with two members each, and the top of a third cluster at the bottom.

In case you’re wondering why some of the globes are offset a bit, they positionally reflect the birth era of the tester, rounded to the closest 25 years, if the birth year is provided under Account Settings. If not, the current tester position defaults to 1950.

Scrolling down to the next portion of the window shows that the third cluster is VERY large. Inside the cluster, we see Belgium, Canada, and France, but we aren’t even halfway through the cluster yet.

Continuing to scroll, we see the cluster number, F7753329, in the middle of the cluster, along with the French flag, two from Ireland, four from the US, and the beginning of the large unknown group.

In this fourth screenshot, at the bottom of the display, we see the balance of haplotype cluster #F7753329, along with eight more people who are not members of that haplotype cluster, nor any other haplotype cluster.

Finally, at the bottom, we find haplogroup U6a7a1a2, a descendant haplogroup of U6a7a1a. Are they descendants of the LeJeune sisters?

Looking back at our tester’s match list, the two people who belong to the new haplogroup U6a7a1a2 haven’t provided any genealogical information. No EKA or tree, unfortunately. The haplogroup formation date is estimated as about 1483, but the range extends from about 1244-1679 at the 95th percentile. In other words, these two people could be descendants of:

  • Either Catherine or Edmee LeJeune, but not both, since all of their descendants would be in U6a7a1a2.
  • An unknown sister to Catherine and Edmee.
  • A descendant line of an ancestor upstream of Catherine and Edmee.

Takeaways from the Time Tree

  • The visualization of the matches and haplotype clusters illustrates that the majority of the haplogroup members are in the same haplogroup cluster.
  • Given that two women, sisters, are involved, we can infer that all of the mutations in this haplotype cluster were common to their mother as well.
  • Haplotype cluster #F7753329 includes 19 testers from Catherine and 17 from Edmee.
  • Downstream haplogroup U6a7a1a2 was born in a daughter of haplogroup U6a7a1a, as early as 1244 or as late as 1679. Genealogy information from the two testers could potentially tell us who the mutation arose in, and when.
  • As more haplogroup U6a7a1a2 testers provide information, the better the information about the haplogroup will become, and the formation date can be further refined.

Smaller haplotype clusters have a story to tell too, but for those, we’ll move to the Match Time Tree.

Match Time Tree

The Match Time Tree is one of my favorite reports and displays your matches on the Time Tree. This feature is only available for testers, and you must be signed in to view your Match Time Tree.

By selecting “Share Mode”, the system obfuscates first names and photos so you can share without revealing the identity of your matches. I wrote about using “Share Mode” here. I have further blurred surnames for this article.

The Match Time Tree incorporates the tree view, with time, the names of your matches PLUS their EKA name and country, assuming they have entered that information. This is one of the reasons why the EKA information is so important.

This display is slightly different than the Time Tree, because it’s one of the features you only receive if you’ve taken the mtFull test and click through to Discover from your account.

The Time Tree view is the same for everyone, but the Match Time Tree is customized for each tester.

Your result is shown first, along with your haplotype cluster if you are a member of one.

You can easily see the names of the EKAs below the obfuscated testers’ names.

While we immediately know that descendants of both Catherine and Edmee are found in the large cluster #F7753329, we don’t yet know which ancestors are included in other haplotype clusters.

Haplogroup U6a7a1a includes two smaller haplotype clusters with 2 people each.

We know a few things about each of these clusters:

  • The people in each cluster have mutations that separate them from everyone else except the other person in their cluster
  • The results are identical matches to the other person in the cluster, including less reliable locations such as 309 and 315
  • There are other locations that are excluded from haplogroup formation, but are included in matching, unlike 309 and 315.
  • Given that they match only each other exactly, AND they did not form a new haplogroup, we know that their common unique mutation that causes them to match only each other exactly is unreliable or unstable, regardless of whether it’s 309, 315, a heteroplasmy, or another marker on the list of filtered or excluded variants.

Only the tester can see their own mutations. By inference, they know the mutations of the people in their haplotype cluster, because they match exactly.

If you’re a member of a cluster and you’re seeking to determine your common ancestor, you’ll want to analyze each cluster. I’ve provided two examples, below, one each for the red and purple clusters.

Red Haplotype Cluster #F3714849

Only one person in the red cluster has included their EKA, and the tree of the second person only reaches to three generations. Tracking that line backwards was not straightforward due to the 1755 expulsion of the Acadians from Nova Scotia.

The second person listed their EKA as Edmee LeJeune, but they have a private tree at MyHeritage, so their matches can’t see anything. I wonder if they realize that their matches can’t view their tree.

We are left to wonder if both people descend from Edmee LeJeune, and more specifically, a common ancestor more recently – or if the unstable mutation that they share with each other is simply happenstance.

E-mailing these testers would be a good idea.

Purple Haplotype Cluster #F2149611

Evaluating the purple cluster reveals that the common ancestor is Catherine LeJeune. The question is twofold – how are these two people related downstream from Catherine, and how unstable is their common mutation or mutations.

Fortunately, both people have nice trees that track all the way back to Catherine.

Unfortunately, their MRCA is Francoise, the daughter of Catherine. I say unfortunately, because two additional testers also descend from Francoise, and they don’t have the haplotype cluster mutation. This tells us that the cluster mutation is unreliable and probably not genealogically relevant because it occurred in two of Francoise’s children’s lines independently, but not all four.

In other words, that specific mutation just happened to occur in those two people.

This is exactly why some mutations are not relied upon for haplogroup definition.

Takeaways from the Match Time Tree

  • The time tree is a wonderful visualization tool that shows all of your matches, their EKAs and countries, if provided, in haplotype clusters, on the Time Tree. This makes it easy to see how closely people are related and groups them together.
  • On your match page, you can easily click through to view your matches’ trees.
  • You can use both haplotype clusters (sometimes reliable) and downstream haplogroups (reliable) to identify and define lineages on your family tree. For example, if a third person matches the two in haplogroup U6a7a1a2, the child haplogroup of U6a7a1a, and you could determine the common ancestor of any two of the three, you have a good idea of the genealogical placement of the third person as well.
  • You know that if people form a haplotype cluster, but not a new haplogroup, that their common haplotype cluster-defining mutation is less reliable and may not be genealogically relevant.
  • On the other hand, those less reliable mutations may not be reliable enough for haplogroup definition, but may be relevant to your genealogy and could possibly define lineage splits. Notice all my weasel words like “may,” “may not” and “possibly.” Also, remember our purple cluster example where we know that the mutation in question probably formed independently and is simply chance.
  • I can’t unravel the ancestors of the red cluster – and if I were one of those two people, especially if I didn’t know who my ancestor was, I’d care a lot that the other person didn’t provide a useful tree. Don’t forget that you can always reach out via email, offer to collaborate, and ask nicely for information.
  • We need EKAs, so please encourage your matches to enter their EKA, upload a tree or link to a MyHeritage tree, and enter a Wikitree ID in their FamilyTreeDNA profile, all of which help to identify common ancestors.

Resources:

Classic Tree

FamilyTreeDNA invented the Time Tree and Match Time Tree to display your results in a genealogically friendly way, but there is important information to be gleaned from other tree formats as well.

The Classic Tree presents the Mitotree, haplogroup and haplotype information in the more traditional format of viewing phylogenetic trees, combining their beneficial features. There’s a lot packed in here.

In this default view, all of the Display Options are enabled. We are viewing the LeJeune haplogroup, U6a7a1a, with additional information that lots of people miss.

The countries identified as the location of testers’ earliest known ancestors (EKA) are shown.

Listed just beneath the haplogroup name, five people are members of this haplogroup and are NOT in a haplotype cluster with anyone else, meaning they have unique mutations. When someone else tests and matches them, depending on their mutation(s), a new haplogroup may be formed. If they match exactly, then at least a new haplotype cluster will be formed.

Portions of three haplotype clusters are shown in this screenshot, designated by the F numbers in the little boxes.

Additional information is available by mousing over the images to the right of the haplogroup name.

Mousing over the badge explains the era in which the haplogroup was born. Rapid expansion was taking place, meaning that people were moving into new areas.

Mousing over the date explains that the scientists behind the Mitotree are 95% certain about the date range of the birth of this haplogroup, rounded to 50 CE. Remember, your common ancestor with ALL haplogroup members reaches back to this approximate date, but your common ancestor with any one, or a group, of testers is sometime between the haplogroup formation date, 50 CE, and the present day.

Mousing over the year shows the confidence level, and the date range at that level. These dates will probably be refined somewhat in the future.

If haplogroup members have private variants, it’s likely or at least possible that a new branch will split from this one as more people test

Mousing over the star displays the confidence level of the structure of this portion of the Mitotree based on what could be either confusing or conflicting mutations in the tree. For haplogroup U6a7a1a, there’s no question about the topology, because it has a 10 of 10 confidence rating. In other words, this branch is very stable and not going to fall off the tree.

Every haplogroup is defined by at least one mutation that is absent in upstream branches of the tree. Mutations are called variants, because they define how this sample, or branch, varies from the rest of the branches in the Mitotree.

These two mutations, A2672G and T11929C, are the haplogroup-defining mutations for U6a7a1a. Everyone in haplogroup U6a7a1a will have these two mutations in addition to all of the mutations that define directly upstream haplogroups (with extremely rare exceptions). Haplogroup-defining mutations are additive.

There may be more haplogroup-defining mutations than are displayed, so click on the little paper icons to copy to your clipboard.

You can view upstream haplogroups and downstream haplogroups, if there are any, by following the back arrows to upstream haplogroups, and lines to downstream haplogroups.

For example, I clicked on the arrow beside haplogroup U6a7a1a to view its parent haplogroup, U6a7a1, and a second time to view its parent, haplogroup U6a7a. If I click on the back arrow for U6a7a, I’ll continue to climb up the tree.

Beneath U6a7a, you can see the haplogroup branches, U6a7a1a and U6a7a2.

Beneath U6a7a1, you’ll notice:

  • People who don’t share haplotype clusters with anyone
  • Three haplotype clusters
  • Five descendant haplogroups from U6a7a1, including the LeJeune sister’s haplogroup U6a7a1a.

To expand any haplogroup, just click on the “+”.

You may see icons that are unfamiliar. Mouse over the image or click on the “Show Legend” slider at upper right to reveal the decoder ring, I mean, legend.

You can read more about the symbols and how haplogroups are named, here, and see more about types of mutations in the Scientific Details section.

Takeaways from the Classic Tree

  • The Classic Tree provides a quick summary that includes important aspects of a haplogroup, including when it was formed, which mutations caused it’s formation, and each branch’s confidence level.
  • It’s easy to back your way up the tree to see where your ancestor’s founding haplogroups were located, which speaks to your ancestor’s history. Patterns, paths, and consistency are the key.
  • Ancient DNA locations in your tree can provide a very specific location where a haplogroup was found at a given point in time, but that doesn’t necessarily mean that’s where the haplogroup was born, or that they are your ancestor. We will get to that shortly.
  • You can share this page with others using the “Share Page” function at the top right.

Ancestral Path

The Ancestral Path is a stepping-stone chart where you can view essential information about each haplogroup in one row, including:

  • Age and era
  • Number of years between haplogroups
  • Number of subclades
  • Number of modern-day testers who belong to this haplogroup
  • Number of Ancient Connections that belong to this haplogroup, including all downstream haplogroups

This “at a glance” history of your haplogroup is the “at a glance” history of your ancestors.

The number in the column titled “Immediate Descendants”, which is the number of descendant haplogroups, tells a story.

If you see a large, or “larger” number there, that indicates that several “child” haplogroups have been identified. Translated, this means that nothing universally terrible has occurred to wipe most of the line out, like a volcano erupting, or a famine or plague that would constitute a constraining bottleneck event. Your ancestors’ children survived and apparently thrived, creating many descendant downstream haplogroups, known as an expansion event.

If you see a smaller number, such as rows 5, 7, 8, 9, and 13, each of which have only two surviving branches, yours and another, several branches probably didn’t survive to the present day. This may reflect a bottleneck where only a few people survived or the lines became extinct over time, having no descendants today. Either that, or the right people haven’t yet tested. Perhaps they are living in a particularly undersampled region of the world, a tiny village someplace, or there aren’t many left.

The two most recent haplogroups have the most subclades, indicating that your ancestors were successfully reproducing in the not-too-distant past. Mutations occurred because they randomly do, creating new haplogroups, and several haplogroup members have tested today. Hopefully, genealogy can connect us further.

The next column, “Tested Modern Descendants,” tallies the total number of testers as it rolls up the tree. So, each haplogroup includes the testers in its downstream (child) haplogroups. The 127 people in haplogroup U6a7a1a include the two people in haplogroup U6a7a1a2, and the 226 people in haplogroup U6a7a1 include the 127 people in haplogroup U6a7a1a.

Looking at other types of trees and resources for each haplogroup can suggest where our ancestors were at that time, perhaps correlating with world or regional history that pertains to the lives of those ancestors.

In our case, the LeJeune sisters’ ancestors did well between 3450 years ago through the formation of U6a7a1a, about 1950 years ago. 3500 years ago, in Europe, settlements were being fortified, leadership was emerging as complex social patterns formed, and trade networks developed that spanned the continent and beyond.

Between 20,000 and 3,450 years ago, not so much. This correlates to the time when early European farmers were moving from Anatolia, bringing agriculture to Europe en masse. However, they were not the first people in Europe. Early modern humans arrived and lived in small groups about 50,000 years ago.

And they very nearly didn’t survive. Many lines perished.

Takeaways from the Ancestral Path

  • The Ancestral Path shows the stepping stones back to Mitochondrial Eve, dropping hints along the way where expansions occurred, meaning that your ancestors were particularly successful, or conversely, where a bottleneck occurred and the lineage was in jeopardy of extinction.
  • In some cases, where a lot of time has passed between haplogroups, such as 8,000 years between U and U6, we’re seeing the effect of lineages dying out. However, with each new tester, there’s the possibility of a previously undiscovered branch split being discovered. That’s precisely what happened with haplogroup L7.

Migration Map

The Discover Migration Map shows the path that your ancestor took out of Africa, and where your base ancestral haplogroup was formed.

Mousing over the little red circle displays the haplogroup, and the area where it originated. Based on this location where U6 was found some 31,000 years ago, we would expect to find U6 and subgroups scattered across North Africa, the Levant, and of course, parts of Eurasia and Europe.

It’s interesting that, based on what we know using multiple tools, it appears that haplogroup U initially crossed between the Horn of Africa and the Arabian Peninsula, at the present-day Strait of Bab-el-Mandeb. Today, that crossing is about 15 nautical miles, but the sea level was much lower during earlier times in history, including the last glacial maximum. Humans would have seen land across the water, and could potentially have swum, drifted, or perhaps used early boats.

Over the next 10,000+ years, haplogroup U trekked across the Arabian peninsula into what is present-day Iran, probably moving slowly, generation by generation, then turning back westward, likely in a small group of hunter-gatherers, crossing the Nile Delta into North Africa, present-day Egypt.

They probably fished along the Nile. Food would have been plentiful along rivers and the sea.

It’s exciting to know that the ancestors of the LeJeune sisters lived right here, perhaps for millennia.

There’s more, however.

The Migration Map shows the location of the genetically closest Ancient DNA results to your haplogroup, obtained from archaeological excavations. This mapped information essentially anchors haplogroup branches in locations in both space and time.

Ancient DNA samples are represented by tiny brown trowels. Clicking on each trowel provides summary information about the associated sample(s) in that location.

Takeaways from the Migration Map

  • Scientists have estimated the location where your base haplogroup originated. For the LeJeune sisters, that’s haplogroup U6 in North Africa along the Mediterranean Sea.
  • The trowels show the locations of the genetically closest archaeological samples, aka Ancient Connections, in the FamilyTreeDNA data base.
  • These Ancient Connections displayed on the map may change. New samples are added regularly, so your older samples, except for the oldest two, which remain in place for each tester, will roll off your list when genetically closer Ancient Connections become available.
  • There are no Ancient Connections for the LeJeune sisters in France today, but keep in mind that Europe is closely connected. Today’s French border is only about 25 miles as the crow flies from Goyet, Belgium. France, sea to sea, is only about 500 miles across, and at its closest two points, less than 250 miles.
  • Samples found at these locations span a large timeframe.

There’s a LOT more information to be found in the Ancient Connections.

Ancient Connections

Ancient Connections is one of my favorite Discover features. This information would never have been available, nor synthesized into a usable format, prior to the introduction of Mitotree and mtDNA Discover. Ancient Connections unite archaeology with genealogy.

  • The first thing I need to say about Ancient Connections is that it’s unlikely that these individuals are YOUR direct ancestors. Unlikely does not mean impossible, but several factors, such as location and timeframe need to be considered.
  • What is certain is that, based on their mitochondrial haplogroup, you SHARE a common ancestor at some point in time.
  • Ancient samples can be degraded, with missing genetic location coverage. That means that not every mutation or variant may be able to be read.
  • Different labs maintain different quality criteria, and location alignments may vary, at least somewhat, lab to lab. While this is always true, it’s particularly relevant when comparing ancient DNA results which are already degraded.
  • Samples are dated by archaeologists using a variety of methodologies. FamilyTreeDNA relies on the dates and historical eras provided in the academic papers, but those dates may be a range, or contain errors.
  • Obtaining information from ancient DNA samples isn’t as easy or straightforward as testing living people.

However, the resulting information is still VERY useful and incredibly interesting – filling in blanks with data that could never be discerned otherwise.

Many people mistakenly assume that these Ancient Connections are their ancestors, and most of the time, not only is that not the case, it’s also impossible. For example, a woman who lived in 1725 cannot be the ancestor of two sisters who were born in 1624 and 1633, respectively.

When you click on Ancient Connections, you see a maximum of about 30 Ancient Connections. Information about the genetically closest burial is displayed first, with the most distant last on the list.

Please note that the final two are the oldest and will (likely) never change, or “roll off” your list, unless an even older sample is discovered. When new samples become available and are genetically closer, the oldest other samples, other than the oldest two, do roll off to make space for the closer haplogroups and their corresponding samples.

Obviously, you’ll want to read every word about these burials, because nuggets are buried there. I strongly encourage you to read the associated papers, because these publications reveal snippets of the lives of your haplogroup ancestors and their descendants.

The small pedigree at right illustrates the relationship between the ancient sample and the haplogroup of the tester. Three things are listed:

  1. El Agujero 8, the name assigned by the authors of the paper that published the information about this ancient sample
  2. The haplogroup of the LeJeune descendant who tested
  3. The haplogroup of their common ancestor.

If no haplogroup is specifically stated for the ancient sample, the sample is the same haplogroup as the common shared ancestor (MRCA), meaning the tester and the ancient sample share the same haplogroup.

The Time Tree beneath the description shows the tester’s haplogroup, (or the haplogroup being queried), the ancient sample, and their common ancestral haplogroup.

Let’s analyze this first sample, El Agujero 8.

  • The person whose remains were sampled lived about 1375 years ago (I’ve averaged the range), in the Canary Islands, and is part of the Guanche culture.
  • The Guanche are the indigenous people of the Canary Islands, already established there before the arrival of Europeans and the Spanish conquest of the 1400s.
  • The Guanche people are believed to have arrived in the Canaries sometime in the first millennium BCE (2000-3000 years ago) and were related to the Berbers of North Africa.
  • This makes sense if you consider the Migration map and geographic proximity.
  • Haplogroup U6a7a1, the haplogroup of El Agujero 8, is the shared ancestral haplogroup with the LeJeune sisters.
  • That woman, U6a7a1, lived around 1450 BCE, or 3450 years ago, probably someplace in North Africa, the Mediterranean basin, or even in the Nile Delta region, given the correlation between the Canary Islands settlement, the Berbers, and the Migration Map.
  • This does NOT mean that the ancestor of the LeJeune sisters lived in the Canary Islands. It means that a descendant of their MRCA, haplogroup U6a6a1, the shared common ancestor with the LeJeune sisters, lived in the Canary Islands.

Ancient Connections Chart Analysis Methodology

I create an Ancient Connection chart for each haplogroup I’m dealing with. We’re analyzing the LeJeune sisters today, but I track and analyze the haplogroup for every ancestor whose haplogroup I can find, or for whom I can find a descendant to test.

In this chart, YA=years ago and is based on the year 2000. KYA=thousand years ago, so 10 KYA is 10,000 years ago.

Name Person Lived Location & Culture Haplogroup, Date & Age Shared (MRCA) Haplogroup, Date & Age Note
LeJeune Sisters Born 1624 & 1633 French Acadian U6a7a1a,

50 CE,

1950 YA

U6a7a1a,

50 CE,

1950 YA

In Acadia by 1643/44
El Agujero 8 1375 CE Canary Islands, Guanche U6a7a1

1450 BCE, 3450 YA

U6a7a1 1450 BCE, 3450 YA Guanche arrived in Canaries in 1st millennium BCE, related to Berbers
Djebba 20824 6000 BCE Jebba, Bājah, Tunisia, Neolithic U6a3f3’4’5

c 5000 BCE, 7000 YA

U6a1”9

19,000 BCE, 21,000 YA

This archaeology site is on the northernmost point of North Africa
Djebba 20825 5900 BCE Djebba, Bājah, Tunisia, Neolithic U6a1”9

19,000 BCE, 21,000 YA

U6a1”9

19,000 BCE, 21,000 YA

This archaeology site is on the northernmost point of North Africa
Egyptian Mummy 2973 200 BCE Abusir el-Meleq, Giza, Egypt, Ptolemaic Kingdom U6a3h^,

1450 BCE,

3450 YA

U6a1”9

19,000 BCE, 21,000 YA

Nile Delta probably, paper says they share ancestry with near easterners
Egyptian Mummy 2888 100 BCE Abusir el-Meleq, Giza, Egypt, Ptolemaic Kingdom U6a2a’c,

11,000 BCE,

13,000 YA

U6a1”9

19,000 BCE, 21,000 YA

Nile Delta probably, paper says they share ancestry with near easterners
Segorbe Giant (6’3”) 1050 CE Plaza del Almudín, Valencia, Spain, Islamic necropolis burial U6a1a1, 14,000 BCE, 16,000 YA

 

U6a1”9

19,000 BCE, 21,000 YA

Paper says his genetic makeup is Berber and Islamic Spain, buried in Islamic style on right side facing Mecca.
Sweden Skara 1050 CE Varnhem, Skara, Sweden, Viking Swedish culture U6a1a3a, 7350 BCE, 9350 YA, U6a1”9

19,000 BCE, 21,000 YA

Viking burial

 

Chapelfield 696 1180 CE Chapelfield, Norwich, England, Ashkenazi Jewish Medieval age U6a1b1b. 400 BCE,

2400 YA

 

U6a1”9

19,000 BCE, 21,000KYA

Possibly the 1190 antisemitic Norwich massacre
Montana Mina 38 1200 CE Montana Mina, Lanzarote, Spain (Canary Islands), Guanche culture U6a1a1b1 U6a1”9

19,000 BCE, 21,000 YA

Guanche arrived in Canaries in 1st millennium BCE, related to Berbers
Amina 1725 CE Gaillard Center, Charleston, South Carolina, Enslaved African American burials U6a5b’f’g,

9550 BCE, 11,550 YA,

U6a1”9

19,000 BCE, 21,000 YA

Remains of pre-Civil War enslaved Africans unearthed in Charleston, SC
Doukanet el Khoutifa 22577 4400 BCE Doukanet el Khoutifa, Mars, Tunisia, Maghrebi cultural group U6b,

6500 BCE, 8500 YA

 

U6a’b’d’e, 23,000 BCE, 25,000 YA Late Stone Age, shows some admixture with European Hunter-Gatherers, possibly back and forth from Sicily
Guanche 12 625 CE Tenerife, Spain (Canary Islands), Guanche, Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Guanche arrived in the Canaries in 1st millennium BCE, related to Berbers
Guanche 14 775 CE Tenerife, Spain (Canary Islands), Guanche, Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Antocojo 27 875 CE Antocojo, La Gomera, Spain (Canary Islands) U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Guanche 13 900 CE Cave, Tenerife, Spain (Canary Islands), Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Guanche 1 1090 CE Cave, Tenerife, Spain (Canary Islands), Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Barranco Majona 30 1325 CE Barranco Majona, La Gomera, Spain (Canary Islands), Guanche late Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Kostenki 14 36,000 BCE Markina Gora, Kostyonki, Voronezh Oblast, Russia U2,

43,000 BCE, 45,000 YA

 

U,

43,000 BCE, 45,000 YA

European/Asian steppe earliest hunter-gatherers. Farming didn’t arrive until 10 KYA. Admixture from Asia as well.
Kostenki 12 31,000 BCE Volkovskaya, Voronezh region, Russian Federation. U2c’e,

43,000 BCE, 45,000 YA

 

U,

43,000 BCE, 45,000 YA

Early hunter-gatherer
Krems 3 29,000 BCE Wachtberg in Krems, Lower Austria, Austria, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Endured the ice age, sophisticated toolmaking, Venus figures, mobile lifestyle, mammoth hunters
Krems Twin 1 28,800 BCE Left bank of the Danube, Krems-Wachtberg, Austria, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Double grave for twins, 1 newborn, one age about 50 days
Krems Twin 2 28,800 BCE Left bank of the Danube, Krems-Wachtberg, Austria, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Ditto above
Vestonice 13 28,900 BCE Pavlovské Hills, South Moravia, Czech Republic, Grevettian culture U8b^,

37,000 BCE, 39,000 YA

 

U,

43,000 BCE, 45,000 YA

Ice Age Europe, few samples before farming introduced. Believe these Gravettian individuals are from a single founder population before being displaced across a wide European region.
Vestonice 14 28,900 BCE Dolni Vestonice, Brezi, Czech Republic, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Ditto above
Vestonice 16 28,900 BCE Dolni Vestonice, Brezi, Czech Republic, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Ditto above
Grotta delle Mura child 15,100 BCE Grotta delle Mura, Bari, Italy, Paleolithic Italian culture U2”10,

43,000 BCE, 45,000 YA

U,

43,000 BCE, 45,000 YA

This baby, interred in a small shoreline cave, was less than 9 months old and had blue eyes
Goyette Q2 13,100 BCE Troisième Caverne, Goyet, Belgium, Magdaleian culture named after the La Madeleine rock shelter in France U8a,

10,000 BCE,

12,000 YA

 

U,

43,000 BCE, 45,000 YA

These hunter-gatherer people may have been responsible for the repopulation of Northern Europe. Cave art, such as that at Altamira, in Northern Spain is attributed to the Magdalenian culture.
Villabruna 1 12,000 BCE Villabruna, Italy, Paleolithic culture U5b2b,

9700 BCE,

11,700 YA

 

U,

43,000 BCE, 45,000 YA

Rock shelter in northern Italy where this man was buried with grave goods typical of a hunter and covered in painted stones with drawings. The walls were painted in red ochre.
Oberkasel 998 12,000 BCE Oberkassel , Bonn, Germany, Western Hunter-Gatherer culture U5b1 U,

43,000 BCE, 45,000 YA

Double burial found in a quarry with 2 domesticated dogs and grave goods. Genis classification was uncertain initially as they were deemed, “close to Neanderthals.”

Creating a chart serves multiple functions.

  1. First, it allows you to track connections methodically. As more become available, older ones fall off the list, but not off your chart.
  2. Second, it allows you to analyze the results more carefully.
  3. Third, it “encourages” you to spend enough time with these ancient humans to understand and absorb information about their lives, travels, and migrations – all of which relate in some way to your ancestors.

When creating this chart, I looked up every shared haplogroup to determine their location and what could be discerned about each one, because their story is the history of the LeJeune sisters, and my history too.

Ok, so I can’t help myself for a minute here. Bear with me while we go on a little Ancient Connections tour. After all, history dovetails with genetics.

How cool is it that the LeJeune sisters’ ancestor, around 20,000 years ago, who lived someplace in the Nile Delta, gave birth to the next 1000 (or so) generations?

Of course, the Great Pyramids weren’t there yet. They were built abotu 4600 years ago.

Those women gave birth to two women about 2200 years ago whose mummified remains were found in the Pyramids at Giza. The associated paper described Egypt in this timeframe as a cultural crossroads which both suffered and benefitted from foreign trade, conquest and immigration from both the Greeks and Romans.

You can read more about burials from this timeframe in The Beautiful Burial in Roman Egypt, here. A crossroads is not exactly what I was expecting, but reading the papers is critically important in understanding the context of the remains. This book is but one of 70 references provided in the paper.

Some burials have already been excavated, and work continues in the expansive pyramid complex.

The Egyptian sun is unforgiving, but Giza eventually gives up her secrets. Will more distant cousins of the LeJeune sisters be discovered as burial chambers continue to be excavated?

We know little about the lives of the women interred at Giza, but the life of another Ancient Connection, Amina, strikes chords much closer to home.

Amina, an enslaved woman, is another descendant of that woman who lived 20,000 years ago. She too is related to the Giza mummies.

Amina was discovered in a previously unknown burial ground in downtown Charleston, SC, that held the remains of enslaved people who had been brought, shackled, from Africa to be sold. Amina’s remains convey her story – that she was kidnapped, forced into the Middle Passage, and miraculously survived. She succumbed around 1725 in Charleston, SC, near the wharf, probably where her prison ship docked.

Charleston was a seaport where more than a quarter million enslaved people disembarked at Gadsden’s Wharf, awaiting their fate on the auction block. The location where Amina’s burial was found is only about 1000 feet from the wharf and is now, appropriately, considered sacred ground. Ohhh, how I’d like to share this information with Amina.

A hundred years earlier, a different ancestor of that women who lived 20,000 years ago gave birth to the mother of the LeJeune sisters, someplace in France.

Moving further back in time, another distant cousin was unearthed at the Kostyonki–Borshchyovo archaeological complex near the Don River in Russia.

Photographed by Andreas Franzkowiak (User:Bullenwächter) – Archäologisches Museum Hamburg und Stadtmuseum Harburg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=58260865

Markina Gora is an incredibly famous location yielding both specimens included here, as well as this famous Venus figurine from the Gravettian culture, dating from about 27,000 years ago.

Bust of Kostenki 14 reconstructed from the burial.

The earliest of these hunter-gatherers in Europe, believed to be a small group of humans, interbred with Neanderthals. Kostenki 14 carried Neanderthal introgression dating back to about 54,000 years ago.

A layer of volcanic ash, thought to be from a volcano near Naples that erupted about 39,000 years ago, is found above the remains, speaking to events that our ancestors survived after this man lived.

I know we’ve traveled far back in history from the LeJeune sisters, but these ancient humans, the MRCA of each upstream haplogroup, are our ancestors, too.

What does all this mean?

At first glance, it’s easy to assume that all of the locations are relevant to our direct ancestors. Not only that, many people assume that all of these people ARE our ancestors. They aren’t.

Creating the Ancient Conenctions Chart should help you gain perspective about how these people are related to you, your ancestors, and each other.

Each individual person is connected to you and your ancestors in various ways – and their stories weave into yours.

Discover provides everyone has a mini-Timeline for each Ancient Connection. It’s easy to see that the tester, who tested in the modern era, since the year 1950, is not descended from El Agujaro 8, who lived in the 1300s and whose common (shared) haplogroup with the tester, U6a7a1, was born between 2100 BCE and 900 BCE, or between 4100 and 2900 years ago. The most probable date is about 3450 years ago.

The Timeline for each ancient sample includes:

  1. Your haplogroup’s mean birth year
  2. Ancient Connection’s birth year
  3. Ancient Connection’s haplogroup mean birth year, if different from the common haplogroup (in the example above, 3 and 4 are the same)
  4. Birth year of your common ancestor (MRCA), which is your common haplogroup

It’s easy to see the relevant information for each sample, but it’s not easy to visualize the trees together, so I’m creating a “rough” tree in Excel to help visualize the “big picture”, meaning all of the Ancient Connections.

How Do I Know Which Ancient Connections Even MIGHT Be My Ancestors and How We Are All Related?

That’s a great question and is exactly why I created this chart in an ancient haplogroup spreadsheet.

Click on any image to enlarge

In this chart, you can see the LeJeune sisters, in red, at the bottom, and their direct line hereditary haplogroups, in purple, descending from haplogroup U at the top.

Branching to the left and right from intersections with their purple hereditary haplogroups are other branches that the LeJeune sisters don’t share directly. However, the ancient remains that carry those haplogroups are “haplocousins” at a distant point in time, with our LeJeune sisters.

There only two burials that carry the same ancestral haplogroup as the LeJeune sisters:

  1. El Agujero 8, haplogroup U6a7a1 who lived in the Canary Islands in the year 1275
  2. Djebba 20825, who lived in Tunisia about 6,100 years ago

Clearly, Djebba, with a common haplogroup that lived about 21,000 years ago cannot be the ancestor of the LeJeune sisters, but they share a common ancestor. If Djebba was an ancestor of the LeJeune sisters, then Djebba would also descend from haplogroup U6a7, born about 20,600 years ago, like the LeJeune sisters do.

A cursory glance might suggest that since the sample, El Agujero 8 lived in the Canary Islands about 1275, haplogroup U6a7a1 was born there. However, if you read the papers associated with all of the samples found in the Canaries, Tunisia, Spain and other locations, you’ll discover that these populations moved back and forth across the Mediterranean. You’ll also discover that the earliest European haplogroup U samples found in Europe are believed to be the founders of haplogroup U in Europe. It’s possible that U6 dispersed into Italy and Spain, regions with significant exchange with North Africa.

It’s extremely unlikely that El Agujero 8, who lived about the year 1275 CE, was the ancestor of the LeJeune sisters, but it’s not entirely impossible. What’s more likely is that they descended from a common population that moved between Spain, the Canaries, and North Africa where other similar burials are found, like Tunisia. We know that Rome largely conquered France during the Gallic Wars (56-50 BCE), so it’s not terribly surprising that we find haplogroup U6a7a1 and descendants scattered throughout Europe, the Iberian peninsula, the Roman empire, and North Africa.

Sometime between the birth of haplogroup U6a7a1, about 3450 years ago, the descendants of that woman found their way both to France before the 1600s and also to the Canaries before 1275.

Takeaways from Ancient Connections

  • I recommend that you read the associated academic papers and publications that provide the Ancient Connections mitochondrial haplogroups. Those publications are chock full of important cultural information.
  • Globetrekker, which won’t be released until some time after the next release of the Mitotree, will help with tracking the path of your ancestors, especially where it’s complex and uncertain.
  • The “haplosisters” and “haplocousins” of the French LeJeune sisters are quite diverse, including Egyptian pyramid burials in Giza, a Muslim necropolis burial in Spain, a Viking in Sweden, indigenous Canary Islanders, a Tunisian site on the Northern-most tip of Africa, a Jewish burial in England, an enslaved woman in South Carolina, the Markina Gora site in Russia, caves in Austria, the Czech Republic, Belgium, Germany and Italy.
  • Ancient Connections are more than just interesting. On another genealogical line, I found a necropolis burial with my ancestor’s haplogroup located about 9 km from where my ancestor is believed to have lived, dating from just a few hundred years earlier.
  • FamilyTreeDNA adds more Ancient Connections weekly.

Resources

Notable Connections

Notable Connections are similar to Ancient Connections, except they are generally based on modern-day or relatively contemporary testers and associated genealogy. Some samples are included in both categories.

Three Notable Connections are included with the public version of Discover, and additional Notable Connections are provided, when available, for testers who click through from their account.

Some Notable Connections may be close enough in time to be useful for genealogy based on their haplogroup, their haplogroup history, and the tester’s history as well.

In this case, the closest two Notable Connections are both included in Ancient Connections, so we know that the rest won’t be closer in time.

The common ancestor, meaning common haplogroup, of Cheddar Man and the rest, reaches all the way back to haplogroup U, born about 45,000 years ago, so these particular Notable Connections can be considered “fun facts.”

However, if the first (closest) notable connection was a famous person who lived in France in the 1600s, and was the same or a close haplogroup, that could be VERY beneficial information.

Takeaways from Notable Connections

  • Mostly, Notable Connections are just for fun – a way to meet your haplocousins.
  • Notable Connections are a nice way to emphasize that we are all connected – it’s only a matter of how far back in time.
  • That said, based on the haplogroup, location and date, you may find Notable Connections that hold hints relevant to your ancestry.

Scientific Details

Scientific Details includes two pages: Age Estimates and Variants.

Scientific Details Age Estimates

Haplogroup ages are calculated using a molecular clock that estimates when the mutation defining a particular haplogroup first arose in a woman.

Since we can’t go back in time, test everyone, and count every single generation between then and now – scientists have to reconstruct the phylogenetic tree.

The more people who test, the more actual samples available to use to construct and refine the Mitotree.

The “mean” is the date calculated as the most likely haplogroup formation date.

The next most likely haplogroup formation range is the 68% band. As you can see, it’s closest to the center.

The 95% and 99% likelihood bands are most distant.

I know that 99% sounds “better” than 68%, but in this case, it isn’t. In fact, it’s just the opposite – 99% takes in the widest range, so it includes nearly all possibile dates, but the center of the range is the location most likely to be accurate.

The full certainty range is the entire 100% range, but is extremely broad. The mean is  the date I normally use, UNLESS WE ARE DEALING WITH CONTEMPORARY DATES.

For example, if the LeJeune sisters’ haplogroup was formed in 1550 CE at the mean, I’d be looking at the entire range. Do their approximate birth years of 1624 and 1633 fall into the 68% range, or the 95% range, and what are the years that define those ranges?

Scientific Details Variants

Next, click on the Variants tab.

To view your haplotype cluster, the F#, and your private variants, slide “Show private variants” at upper right above the black bar to “on.” This feature is only available for testers who sign in and click through to mtDNA Discover from their page.

The Variants tab provides lots of information, beginning with a summary of your:

  • Haplotype cluster F number, which I’ve blurred
  • Private variants, if any
  • End-of-branch haplogroup information

The most granular information is shown first.

Your haplotype cluster number is listed along with any private variants available to form a new haplogroup. In this case, there are no private variants for these haplotype cluster members. Every cluster is different.

Just beneath that, listed individually, are the variants, aka SNPs, aka mutations that identify each haplogroup. The haplogroup with the red square is yours.

Everyone in this haplogroup shares these two mutations: A2672G and T11929C. Because two variants define this haplogroup, it’s possible that one day it will split if future testers have one but not the other variant.

Information in the following columns provides details about each mutation. For example, the first mutation shown for haplogroup U6a7a1a is a transition type SNP mutation in the coding region, meaning it’s only reported in the full sequence test, where the A (Adenine) nucleotide, which is ancestral, mutated to a G (Guanine) nucleotide which is derived. This is essentially before (reference) and after (derived).

If you mouse over the Weight column, you’ll see a brief explanation of how each mutation is ranked. Essentially, rarer mutation types and locations are given more weight than common or less stable mutation types and/or locations.

Mutations with orange and red colors are less stable than green mutations.

Following this list from top to bottom essentially moves you back in time from the most recently born haplogroup, yours, to haplogroup L1”7, the first haplogroup in this line to branch from Mitochondrial Eve, our common ancestor who lived about 143,000 years ago in Africa.

View More

Clicking on the “View More” dropdown exposes additional information about the various types of mutations and Filtered Variants. Filtered Variants, in the current version of the Mitotree, are locations combined with specific mutation types that are excluded from branch formation.

Please note that this list may change from time to time as the tree is updated.

Takeaways from Scientific Details

  • Based on the Age Estimate for haplogroup U6a7a1a, it’s most likely to have formed about the year 29, but could have formed anytime between about 186 BCE and 230 CE. While this range may not be terribly relevant for older haplogroups, ranges are very important for haplogroups formed in a genealogical era.
  • People who are members of this example haplotype cluster do not have any private variants, so they are not candidates to receive a new haplogroup unless the upstream tree structure itself changes, which is always possible.
  • A significant amount of additional scientific information is available on these two tabs.
  • A list of locations currently excluded from haplogroup formation is displayed by clicking on the “View more” dropdown, along with information about various types of mutations. This list will probably change from time to time as the tree is refined.

Compare

Compare is a feature that allows you to compare two haplogroups side by side.

Let’s say we have an additional woman named LeJeune in Acadia, aside from Catherine and Edmee. As it happens, we do, and for a very long time, assumptions were made that these three women were all sisters.

Jeanne LeJeune dit Briard was born about 1659 and died after 1708. She is the daughter of unknown parents, but her father is purported to be Pierre LeJeune born about 1656, but there’s no conclusive evidence about any of that.

Jeanne LeJeune dit Briard married twice, first to Francois Joseph. Their daughter, Catherine Joseph’s marriage record in 1720 lists Jeanne, Catherine’s mother, as “of the Indian Nation.”

Several direct matrilineal descendants of Jeanne LeJeune dit Briard have joined the Acadian AmerIndian DNA Project, revealing her new Mitotree haplogroup as haplogroup A2f1a4+12092, which is Native American.

If Jeanne LeJeune dit Briard born about 1659, and Edmee and Catherine LeJeune, born about 1624 and 1633, respectively, are full or matrilineal half-siblings, their mitochondrial DNA haplogroups would match, or very closely if a new branch had formed in a descendant since they lived.

Let’s use the Compare feature to see if these two haplogroups are even remotely close to each other.

Click on “Compare.”

The first haplogroup is the one you’re searching from, and you’ll choose the one to compare to.

Click on “Search a haplogroup” and either select or type a haplogroup.

The two haplogroups are shown in the little pedigree chart. The origin dates of both haplogroups are shown, with their common shared ancestor (MRCA) positioned at the top. The most recent common, or shared, ancestor between Jeanne LeJeune dit Briard, who was “of the Indian Nation” and Catherine and Edmee LeJeune is haplogroup N+8701, a woman born about 53,000 years ago.

There is absolutely NO QUESTION that these three women DO NOT share the same mother.

Jeanne LeJeune dit Briard is matrilineally Native, and sisters Caterine and Edmee LeJeune are matrilineally European.

Takeaways from Compare

  • The MRCA between Jeanne LeJeune dit Briard and sisters, Edmee and Catherine LeJeune is about 53,000 years ago.
  • Jeanne was clearly not their full or maternal sister.
  • Compare provides an easy way to compare two haplogroups.

Suggested Projects

Projects at FamilyTreeDNA are run by volunteer project administrators. Some projects are publicly viewable, and some are not. Some project results pages are only visible to project members or are completely private, based on settings selected by the administrator.

When testers join projects, they can elect to include or exclude their results from the public project display pages, along with other options.

The “Suggested Projects” report in Discover provides a compilation of projects that others with the haplogroup you’re viewing have joined. Keep in mind that they might NOT have joined due to their mitochondrial DNA. They may have joined because of other genealogical lines.

While these projects aren’t actually “suggested”, per se, for you to join, they may be quite relevant. Viewing projects that other people with this haplogroup have joined can sometimes provide clues about the history of the haplogroup, or their ancestors, and therefore, your ancestors’ journey.

Remember, you (probably) won’t match everyone in your haplogroup on your matches page, or the Match Time Tree, so projects are another avenue to view information about the ancestors and locations of other people in this haplogroup. The projects themselves may provide clues. The haplogroup projects will be relevant to either your haplogroup, or a partial upstream haplogroup.

The haplogroup U6 project includes multiple U6 daughter haplogroups, not just U6a7a1a, and includes testers whose ancestors are from many locations.

The U6 project has labeled one group of 38 members the “Acadian cluster.” Of course, we find many descendants of Catherine and Edmee LeJeune here, along with testers who list their earliest known ancestor (EKA) as a non-Acadian woman from a different location.

The ancestors of Martha Hughes, who lived in Lynn, Massachusetts, and Mary Grant from Bathhurst, New Brunswick may well be descendants of Edmee or Catherine.

Or, perhaps they are a descendant of another person who might be a connection back to France. If you’re the Hughes or Grant tester, you may just have tested your way through a brick wall – and found your way to your LeJeune ancestors. If you’re a LeJeune descendant, you might have found a link through one of those women to France. Clearly, in either case, additional research is warranted.

For descendants of Catherine and Edmee, you’re looking for other testers, probably from France, whose ancestors are unknown or different from Edmee and Catherine. That doesn’t mean their genealogy is accurate, but it does merit investigation.

Check to see if someone with that EKA is on your match list, then check their tree.

For Catherine and Edmee LeJeune, other than Martha and Mary, above, there was only one EKA name of interest – a name of royalty born in 1606. However, research on Marie Bourbon shows that she was not the mother of the LeJeune sisters, so that tester is either incorrect, or confused about what was supposed to be entered in the EKA field – the earliest known direct matrilineal ancestor.

You may also find people in these projects who share your ancestor, but have not upgraded to the full sequence test. They will have a shorter version of the haplogroup – in this case, just U6a. If they are on your match list and their results are important to your research, you can reach out to them and ask if they will upgrade.

If you’re working on an ancestor whose mitochondrial DNA you don’t carry, you can contact the project administrator and ask them to contact that person, offering an upgrade.

Takeaways from Suggested Projects

  • Suggested Projects is a compilation of projects that other people with this haplogroup have joined. Haplogroup-specific projects will be relevant, but others may or may not be.
  • Testers may have joined other projects based on different lineages that are not related to their mitochondrial line.

We’re finished reviewing the 12 Discover reports, but we aren’t finished yet with the LeJeune analysis.

Another wonderful feature offered by FamilyTreeDNA is Advanced Matching, which allows you to search using combinations of tests and criteria. You’ll find Advanced Matching on your dashboard.

Advanced Matching

Advanced Matching, found under “Additional Tests and Tools,” is a matching tool for mitochondrial DNA and other tests that is often overlooked.

You select any combination of tests to view people who match you on ALL of the combined tests or criteria.

Be sure to select “yes” for “show only people I match in all selected tests,” which means BOTH tests. Let’s say you match 10 people on both the mitochondrial DNA and Family Finder tests. By selecting “Yes,” you’ll see only those 10 people. Otherwise you’ll get the list of everyone who matches you on both tests individually. If you have 100 mitochondrial matches, and 2000 autosomal matches, you’ll see all 2100 people – which is not at all what you want. You wanted ONLY the people who match you on both tests – so be sure to select “yes.”

The combination of the FMS, full sequence test, plus Family Finder displays just the people you match on both tests – but keep in mind that it’s certainly possible that you match those people because of different ancestors. This does NOT mean you match on both tests thanks to the LeJeune sisters. You could match another tester because of a different Acadian, or other, ancestor.

This is especially true in endogamous populations, or groups, like the Acadians, with a significant degree of pedigree collapse.

Advanced Matching Tip

You can also select to match within specific projects. This may be especially useful for people who don’t carry the mitochondrial DNA of the LeJeune sisters, but descend from them.

Switching to my own test, I’ve selected Family Finder, and the Acadian AmerIndian Project, which means I’ll see everyone who matches me on the Family Finder test AND is a member of that project.

Given that I’ve already identified the haplogroup of Catherine LeJeune, I can use known haplogroups to filter autosomal matches, especially in focused projects such as the Acadian AmerIndian Project. This helps immensely to identify at least one way you’re related to other testers.

By clicking on the match’s name, I can see their EKA information. By clicking on their trees, I can verify the ancestral line of descent.

Of course, in Acadian genealogy, I’m probably related to these cousins through more than one ancestor, but using Advanced Matching, then sorting by haplogroup is a great way to identify at least one common ancestor!

Takeaways from Advanced Matching

  • Advanced Matching is a wonderful tool, but make sure you’re using it correctly. Click “Yes” to “Show only people I match in all selected tests.” Please note that if you select all three levels of mtDNA test, and you don’t match at the HVR1 level due to a mutation, that person won’t be shown as a match because you don’t match them on all test levels selected. I only select “FMS” and then my second test.
  • You may match someone on either Y-DNA or mitochondrial DNA and the autosomal Family Finder through different ancestral lines.
  • Advanced Matching is a great way to see who you match within a project of specific interest – like the Acadian AmerIndian Project for the LeJeune sisters.
  • You will match people outside of projects, so don’t limit your analysis.

Drum Roll – LeJeune Analysis

It’s finally time to wrap up our analysis.

The original questions we wanted to answer were:

  • Were Edmee and Catherine LeJeune actually sisters?
  • Was their mother Native American?
  • Was the third woman, Jeanne LeJeune dit Briard, also their sister?
  • Are there any other surprises we need to know about?

We now have answers, so let’s review our evidence.

  • Based on the haplogroup of Edmee and Catherine LeJeune both, U6a7a1a, which is clearly NOT of Native American origin, we can conclude that they are NOT Native American through their matrilineal side.
  • Native American haplogroups are subsets of five base haplogroups, and U is not one of them.

There’s other information to be gleaned as well.

  • Based on the haplogroup of Jeanne LeJeune dit Briard, A2f1a4+12092, plus her daughter’s marriage record, we can conclude that (at least) her mother was Native American.
  • Based on Jeanne’s Native American haplogroup alone, we can conclude that she is not the full sister of the Catherine and Edmee LeJeune.
  • Based on Jeanne’s birth date, about 1659, it’s clear that she cannot be the full sibling of Catherine born about 1633, and Edmee LeJeune, born about 1624, and was probably a generation too late to be their paternal half sister. Later lack of dispensations also suggests that they were not half-siblings.
  • Based on the known Acadian history, confirmed by contemporaneous records, we can state conclusively that Edmee LeJeune was born in France and Catherine probably was as well. The first Acadian settlement did not occur until 1632, and the first known families arrived in 1636.
  • Based on the fact that Catherine and Edmee’s haplogroups match, and many of their descendants’ mitochondrial DNA matches exactly, combined with later dispensations, we can conclude that Catherine and Edmee were sisters.
  • We can conclusively determine that Catherine and Edmee were NOT Native on their matrilineal side, and given that they were born in France, their father would have been European as well. However, we cannot determine whether their descendants married someone who was either Native or partially Native.
  • We know that information for partial haplogroup U6a, provided for HVR1 and HVR1+HVR2-only testers is not necessarily relevant for full sequence haplogroup U6a7a1a.
  • The recent Mitotree release has moved the haplogroup “dates” for the LeJeune sisters from about 21,000 years ago for HVR1/HVR2 U6a testers to 50 CE for full sequence testers,. These dates may well be refined in future tree releases.
  • Having multiple testers has provided us with an avenue to garner a massive amount of information about the LeJeune sisters, in spite of the fact that their haplogroup was born about 50 CE.
  • The LeJeune sisters are related to, but not descended from many very interesting Ancient Connections. Using our Ancient Connections spreadsheet, we can rule out all but one Ancient Connection as being a direct ancestor of the LeJeune sisters, but they are all “haplocousins,” and share common ancestors with the sisters.
  • While we cannot rule out the genetically closest Ancient Connection, El Agujero 8, who lived about 1275 CE in the Canary Islands as their direct ancestor, it’s very unlikely. It’s more probable that they share a common ancestor in haplogroup U6a7a1 who lived about 3450 years ago, whose descendants spread both into France by the 1600s and the Canary Islands by the 1200s.

By now, you’re probably thinking to yourself that you know more about my ancestors than your own. The good news is that mitochodnrial DNA testing and mtDNA Discover is available for everyone – so you can learn as much or more about your own ancestors.

Spread Encouragement – Be a Positive Nellie!

Unfortunately, sometimes people are discouraged from mitochondrial DNA testing because they are told that mitochondrial haplogroups are “too old,” and matches “are too distant.” Remember that the MRCA of any two people, or groups of people is sometime between the haplogroup formation date, and the current generation – and that’s the information we seek for genealogy.

Furthermore, it’s those distant matches, beyond the reach of autosomal matching, that we need to break down many brick walls – especially for female ancstors. I offer testing scholarships for ancestors whose mitochondrial DNA is not yet represented. It’s information I can’t obtain any other way, and I’ve broken through many brick walls!

We don’t know what we don’t know, and we’ll never know unless we take the test.

Imagine how much could be gained and how many brick walls would fall if everyone who has tested their autosomal DNA would also take a mitochondrial DNA test.

Which ancestors mitochodrial DNA do you need? The best place to start is with your own, plus your father’s, which gives you both grandmother’s mtDNA and directly up those lines until you hit that brick wall that needs to fall.

Additional Resources

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The Mystery of the Blue Fugates and Smiths: A Study in Blue Genes and Pedigree Collapse

The story of the Blue Fugates, an Appalachian family, is quite interesting, from a genetic perspective, a genealogical perspective, and a genetic genealogy perspective.

Who Are the Blue Fugates?

Martin Fugate, supposedly an orphan from France, and his bride, Elizabeth Smith, who had married by 1840, have long been attributed as the progenitors of the Blue Fugate Family of Troublesome Creek, in and around Perry County, Kentucky.

Their descendants were known as “The Blue Fugates” and also “The Blue People of Kentucky” because some of their children and descendants carried a recessive autosomal genetic trait, Methemoglobinemia.

Methemoglobinemia causes the skin to appear blue due to an oxygen deficiency in the red blood cells. Some people only exhibit this characteristic, or even just blue tinges in their fingernails and lips, when they are cold or agitated, such as when infants cry. Yet others are very, very blue.

Inheritance

In order for someone to exhibit the autosomal recessive trait of blueness due to Methemoglobinemia, they must inherit a copy of the gene from BOTH PARENTS. That’s why this trait is so rare.

  • If the parents have only one copy each, they are carriers and will not have the condition themselves.
  • If one parent carries either one or two copies, and the other parent does NOT carry a copy, their offspring CANNOT carry two copies of the mutation and will not be blue.
  • If both parents carry a copy, and both parents pass their copy on to their offspring, the offspring will probably exhibit some level of blueness – from just a tinge when they are cold, ill or or upset, to very, very blue.

I’m not a physician, so I’m not delving into the medical specifics of Methemoglobinemia, but suffice it to say that levels of 10-20% of methemoglobin in the blood produce blue skin, higher levels can produce more severe medical conditions, and levels beneath that may not be visually detectible.

What’s important for the genealogy aspect of this story is that both parents must carry a copy AND pass their copy on for the condition to express in their offspring.

We’ve learned a lot since the 1800s when this was first observed in various members of the Fugate family in Perry County, KY, and since the 1960s when this phenomenon was first studied in the Fugate family and their descendants. To be clear, there are also references to the blue Combs and blue Ritchies in and around Perry County – but the common factor is that they have ancestors that descend from the Fugate family AND the Smith family ancestors, both.

During my research, I’ve proven some of what was initially accepted as fact was incorrect – and I’d like to correct the record. Bonus points too, because it’s just such a great genealogy story!

My Interest

I’ve been inordinately interested in the Fugate family for a long time – but not because of their famous blueness.

The Fugate family has been found for more than 225 years alongside my Cook, Claxton, Campbell, and Dobkins families. First, in Russell County, VA, where Josiah Fugate was granted land along Sword’s Creek in 1801 that adjoined Harry Smith, Richard Smith, and others, including my brick-wall ancestor, Joel Cook. Keep in mind that we have never discovered the birth surname of Joel’s wife or Joel’s parents.

Joel’s daughter, Sarah, married James Claxton about 1799 or 1800 in Russell County, and in February of 1802, James Claxton and Zachariah Fugate, among others, were ordered to view and lay out a new road. They were clearly neighbors, living on the same road, and knew each other well. We don’t know who James’ parents were either.

The Fugates first lived adjacent to the Cook, Riley, Stephens, and Claxton families on Mockason Creek in Russell County, then later migrated with the same group of families to Claiborne County where they lived along the Powell River near the Lee County, VA line, and are very closely associated with the Dobkins and Campbell lines.

Sometime between 1802 and 1805, several Russell County families moved 110 miles down the mountain range and settled together on the Powell River in Claiborne County, TN.  About the same time, others from the same cluster moved to what would eventually become Perry County, KY.

In 1805, the Fugates were ordered as road hands on the north side of Wallen’s Ridge in Claiborne County, the part that would become Hancock County in the 1840s, along with James Claxton and several Smiths.

In 1808, James Claxton witnessed a deed to Henley Fugate and John Riley.

The unsubstantiated family rumor, repeated as fact but with no source, has always been that William Fugate married the sister of my John Campbell. If that were true, tracking the Fugates would help me track my Campbells – yet another brick wall. Hence, my early interest in the Fugate family. Until now, I’ve never solved any part of that puzzle.

In 1827, in Claiborne County, Henry Cook, road overseer, is assigned John Riley, Henly Fugate, William Fugate, Fairwick Claxton (son of James who had died in 1815), and others. These families continued to be allied, living close to each other.

In 1842, William Fugate (1799-1855), born to William Fugate and Sarah Jane Stephens in Russell County, is involved in the estate of John Campbell, born about 1772, who had died in 1838. John Campbell was the husband of Jane “Jenny” Dobkins, daughter of Jacob Dobkins (1751-1835).

William Fugate of Claiborne County signed a deposition in 1851 saying he came to Claiborne County, TN, in 1826. Claiborne County is rugged terrain, located on the south side of the Cumberland Gap, where Virginia, Tennessee, and Kentucky intersect.

In 1853, both William Fugate and Jehiel Fugate are neck-deep in lawsuits surrounding the estate of Jacob Dobkins, who died in 1835, lived on Powell River, and whose daughters married John Campbell and his brother George Campbell

I recently discovered that this William Fugate was born about 1799 in Russell County, VA, and according to his son’s death certificate, William’s wife was Nancy Riley, which makes a lot of sense, given the proximity of these families. I must admit, I’m glad to solve this, but I’m also disappointed that he wasn’t married to John Campbell’s sister.

So, why does any of this matter in the Blue Fugate story?

In part, because I knew decades ago that Martin Fugate, of the Kentucky Blue Fugates, was not an orphan from France who had somehow made his way to the eastern shores of Maryland, then to Perry County, KY by 1820 when he supposedly received a land grant. That land grant date doesn’t square with Martin’s birth year of 1820 either, nor his marriage about 1840, both of which are substantiated by the census.

You can see from the information gleaned from Russell County that the Fugate family was there well before 1800. In fact, a Martin Fugate is shown on the 1789 tax list and other Fugates were there earlier, as early as 1771, according to extracted Russell County records in the book “The Fugate Family of Russell County, Virginia” by David Faris. The Fugate descendants continued to press on westward from there. Fugate, unlike Smith, Cook, and even Campbell, is not a common surname.

“Orphan” stories are often early ways that people said “I don’t know”, without saying, “I don’t know where he came from”, so they speculated and said “maybe he was an orphan.” Then that speculation was eventually passed on as fact.

That might have been happening in Perry County in the 1960s, but in Claiborne County in the 1980s, family members were telling me, “Martin waren’t no orphan,” and would roll their eyes and sigh with great exasperation. You could tell this was far from the first time they had had to combat that story. To be clear, the Fugate family lived down along Little Sycamore Creek with my Estes, Campbell and other ancestral families. In the 1980s, I was finding the oldest people possible and talking to them.

Some records in Russell County, where the Fugates of Perry County, KY, and the Fugates of Claiborne County, TN, originated, did and do exist, so could have been researched in the 1960s, but you would have had to know where to look. No one back then knew that the Perry County Fugates originated in Russell County, so they wouldn’t have known to look there. Research wasn’t easy. If they had known to look in Russell County, they would have had to travel there in person to review records. Early records exist in Perry County, too, but in the 1960s, not even the census was available, and people simply didn’t remember back to the early to mid-1800s.

Truthfully, no one would ever have doubted those early stories that had been handed down. They were revered, in all families, and treated as gospel. Those stories were the only connection they had to their ancestors – and the generations inbetween who passed them on. Nope, no one was going to question what Grandpa or Uncle Joe said.

So, in the 1960s, when the Blue Fugates in Perry and adjacent Breathitt County, KY were first studied by Dr. Cawein and his nurse, Ruth Pendergrass, they gathered oral family history and constructed a family pedigree from that information. They documented who was blue from first-hand eye-witness accounts – which would only have stretched back into the late 1800s, best case.

It probably never occurred to anyone to validate or verify earlier information that was provided. Plus, it would have been considered rude. After all, they weren’t genealogists, and they were trying to solve a medical mystery. The information they collected did not conflict with what was known about the disease and how it was transmitted, so they had no reason to doubt its historical accuracy.

The Mystery of the Blue Fugates?

The Blue Fugates were a family renowned for their blue skin – at least some of them had blue skin. That’s part of what makes this story so interesting.

Originally, it was believed that only one progenitor couple was involved, Martin Fugate and his wife, Elizabeth Smith, but now we know there were two. Maybe I should say “at least two.”

Martin Fugate and his bride, Elizabeth Smith, whose first known child was born in 1841, according to the 1850 census, are progenitors of the Blue Fugate Family of Troublesome Creek, but they aren’t the only progenitors.

Martin was not shown in the Perry County, KY 1840 census, but two Zachariah Fugates are present, 8 Fugate families are found in neighboring Breathitt County, more than a dozen in Russell County and surrounding counties in Virginia, and four, including two William Fugates, in Claiborne County, TN. The younger of the two lived next door to John Dobkins, son of deceased Jacob Dobkins.

Martin Fugate (c1820-1899) of Perry County and his second cousin, Zachariah Fugate (1816-1864), who each married a Smith sister, are both progenitors of the Blue Fugates through their common ancestor, their great-grandfather, Martin Fugate, who was born in 1725 and died in 1803 in Russell County, VA.

Obviously, if Martin (c1820-1899) had a Fugate second cousin who also lived in Perry County, Martin wasn’t an orphan. That knowledge is due to more recently available information, like census and other data – and that’s part of what I want to correct.

In 1948, Luke Combs, from Perry County, KY, took his sick wife to the hospital, but Luke’s blueness caused the medical staff to focus on him instead, thinking he was experiencing a medical emergency. He wasn’t. His skin was just blue. In 1974, Dr Charles H. Behlen II said, ‘Luke was just as blue as Lake Louise on a cool summer day.’ The Blue Fugates were “discovered” by the rest of the world, thanks to Luke, but they were nothing new to local people, many of whom did not welcome the notoriety.

In the 1960s, hematologist Madison Cawein III, with the assistance of Ruth Pendergrass, studied 189 members of the extended Fugate family, treated their symptoms, and published his findings. He included a pedigree chart, but not everyone was keen on cooperating with Dr. Cawein’s research project.

The Fugate family history collected for the study was based on two things:

  • Personal knowledge of who respondents knew was blue
  • Remembered oral history beyond the reach of personal knowledge.

That remembered oral history reported that Martin Fugate and Elizabeth Smith’s youngest son, Zachariah Fugate (born in 1871), married his mother’s (older) sister, Mary Smith, (born about 1820), and had a family. I’ve added the dates and information in parentheses, or they would have immediately known that marriage was impossible. Or, more directly, even if they married when Zachariah was 14, Mary would have been 70 years old, and they were certainly not going to produce offspring. This is the second piece of information I want to correct. That marriage never happened, although people were accurate that:

  • Martin Fugate and his wife, Elizabeth Smith, did have a son named Zachariah Fugate
  • One Zachariah Fugate did marry Mary Smith, sister of Elizabeth Smith

It’s just that they were two different Zachariah Fugates, born 75 years apart. Same name confusion strikes again.

I constructed this census table of Martin Fugate with Elizabeth Smith, and Zachariah Fugate with Mary Smith. They lived next door to each other in Perry County – and it seemed that every family reused the same “honoring” names for their children – and had been doing such for generations.

In the 1960s, when the information was being compiled for Dr. Cawein, the census and other documents that genealogists rely on today were not readily available.

Furthermore, genetically, for the mystery Dr. Cawein was attempting to solve, it didn’t really matter, because it was still a Smith female marrying a Fugate male. I know that it made no difference today, but he wouldn’t have known that then. To track down the source of the blueness, he needed to identify who was blue and as much about their ancestors as possible.

The Zachariah Fugate (1816-1864) who married Elizabeth Smith’s sister, Mary Smith, was Martin Fugate’s second cousin by the same name, Zachariah. Both Martin (c1820-1899) and his second cousin, Zachariah (c1816-1864), married to Smith sisters, had blue children, which helps cement the fact that the responsible genes were passed down through BOTH the Fugate and Smith lines, and weren’t just random mutations or caused by environmental or other factors.

Proof

In case you’re wondering exactly how I confirmed that Martin and Zachariah did indeed marry Elizabeth and Mary Smith – their children’s birth and death records confirmed it. These records correlate with the census.

Unlike most states, Kentucky has some pre-1900 birth and death records.

Wilson Fugate’s birth in February, 1855 was recorded, naming both of his parents, Martin Fugate and Elizabeth Smith.

Martin Fugate and Elizabeth Smith’s son, Henley or Hendley, died in 1920, and his death certificate gave the names of both parents. Betty is a nickname for Elizabeth.

On the same page with Wilson Fugate’s birth, we find a birth for Zachariah Fugate and Mary Smith, too.

Hannah Fugate was born in December 1855.

Zachariah Fugate and Mary Smith’s son, Zachariah died in 1921, and his death certificate gives his parents as Zach Fugate and Polly Smith, a nickname for Mary.

There are more death records for children of both sets of parents.

Both couples, Martin Fugate and Elizabeth Smith, and Zachariah Fugate and Mary Smith, are progenitors of the Blue Fugate family.

Of Martin’s 10 known children, 4 were noticeably “blue” and lived long, healthy lives. At least two of Zachariah’s children were blue as well.

Some people reported that Martin, himself, had deep blue skin. If so, then both of his parents would have carried that genetic mutation and passed it to him.

Unfortunately, color photography didn’t exist when Martin (c1820-1899), lived, so we don’t know for sure. For Martin’s children to exhibit blue skin, they would have had to inherit a copy of the gene from both parents, so we know that Martin’s wife, Elizabeth, also inherited the mutation from one of her parents. Ditto for Zachariah Fugate and Mary Smith. The chances of two families who both carry such a rare mutation meeting AND having two of their family members marry are infinitesimally small.

Dr. Cawein’s Paper

In 1964, Dr. Cawein published his findings, but only with a pedigree chart with no names. What was included was an explanation about how remote and deep the hills and hollows were, and that out-migration was almost impossible, explaining the propensity to marry cousins.

Legend:

  • Measured – Found to have elevated methemoglobin
  • Measured – Found to have decreased methemoglobin
  • Not measured – Reported to be “blue”
  • Measured – Found to be normal

Cawein further stated that data was collected by interviewing family members who personally knew the individual in question and could say if they were actually blue.

Cawein erroneously reported that “Martin Fugate was an orphan born about 1800, landed in Maryland, obtained a land grant in Perry County, KY in 1820, and married a local gal. From 1820 to about 1930, the population consisted of small, isolated groups living in creek valleys and intermarriage was quite common.” Bless his heart.

Later, geneticist Ricky Lewis wrote about the Blue Fugates, sharing, among other things, the provenance of that “blue” family photo that circulates on the internet, revealing that it is a composite that was assembled and colorized back in 1982. She also erroneously stated that, “after extensive inbreeding in the isolated community—their son married his aunt, for example—a large pedigree of “blue people” of both sexes arose.” Bless her heart too.

Dr. Lewis is incorrect that their son married his aunt – but she’s right that intermarriage between the families is responsible for the blue descendants. In colonial America, and elsewhere, cousin marriages were fairly common – everyplace. You married who you saw and knew. You saw your family and neighbors, who were generally your extended family. No left-handed apology needed.

Pedigree collapse, sharing the same ancestors in multiple places in your tree, is quite common in genealogy, as is endogamy among isolated populations.

Today, things have changed somewhat. People move into and out of an area. The younger generation moves away a lot more and has for the past 100+ years. Most people know their first cousins, but you could easily meet a second or third cousin and never know you were related.

While early stories reported that Martin Fugate (c1820-1899) was an orphan from France, mysteriously appearing in Kentucky around 1820, later genealogical evidence as well as genetic research proves that Martin Fugate was actually born about 1820, in Russell County, VA and his ancestors, over several generations, had followed the typical migration path across Virginia into Kentucky.

We’ve also proven that Martin’s son, Zachariah (born 1871) was not the Zachariah who married Elizabeth Smith’s sister, Mary, who was 50 years old when Zachariah was born.

What else do we know about these families?

The Back Story

Compared to the Smith story, the Fugate story was “easy.”

Don’t laugh, but I spent several days compiling information and charting this in a way I could see and understand in one view.

I hesitate to share this, but I’m going to because it’s how I think. I also put together a very basic Fugate tree at Ancestry, here. Many children and siblings are missing. I was just trying to get this straight in my mind.

Click to enlarge any image

This spreadsheet is color-coded:

  • The text of each lineage has a specific color. For example, Fugates are blue.
  • Some people (or couples) are found in multiple descendants’ lines and are duplicated in the tree. Duplicated people also have a cell background color. For example, Mahala Richey (Ritchey, Ritchie) is highlighted yellow. James and Alexander Richey have green text and apricot background because they are duplicated.
  • The generation of parents who had blue children is marked with black boxes and the label “Blue Kids.”
  • Only the blue kids for this discussion are listed below those couples.
  • The bluest person was Luna Fugate (1886-1964).
  • While Luna’s husband, John Stacey, also descended from the Smith/Combs line, only one of their children expressed the blue trait. That child’s lips turned blue when they cried. John and Luna were actually related in three ways. Yes, my head hurts.
  • The last known “blue” person was Luna Fugate’s great-grandchild, whose name I’ve obfuscated.

Ok, let’s start with the blue Fugates on our spreadsheet. You’ll probably want to follow along on the chart.

Martin Fugate (1725-1803) and wife Sarah, had several children, but only two, the ones whose grandchildren married Smith sisters are known to have had blue children.

On our chart, you can see that Martin (1725-1803) is blue, and so is Son 1, William Fugate and Sarah Stephens, along with Son 2, Benjamin Fugate and Hannah Devers. Both William and Benjamin are mentioned in Martin’s estate in 1803 in Russell County, VA.

Two generations later, Martin Fugate (c1820-1899) and Elizabeth Smith had four blue children, and Zachariah Fugate (c1816-1864) and Mary Smith had at least two blue children. Furthermore, Zachariah Fugate’s sister, Hannah (1811-1877), married James Monroe Richie.

The Richey’s are green, and you can see them on both the left and right of the chart. Hannah’s husband descended from the same Richey line that Elizabeth Smith did. It was no surprise when their child, Mahala Ritchie (1854-1922), married Levi Fugate, to whom she was related three ways, they became the parents of a blue child. Their daughter, Luna Fugate, was known as “the Bluest of the Blue Fugates.”

Mahala Ritchie (1854-1922) could have inherited her blue gene (or genes) from either her mother Hannah Fugate, or her father, James Monroe Ritchie, or both. We don’t know if Hannah was blue or not.

We do know that Mahala married Levi Fugate, her third cousin through the Fugate line, and her third and fourth cousin also through the Richie and Grigsby lines, respectively. This is the perfect example of pedigree collapse.

You can see the purple Grigsby lines in the center and to the right of the pedigree chart too, with Benjamin Grigsby, highlighted in blue, being common to both lineages.

Zachariah Fugate (1816-1864) and Mary Smith had at least two blue sons, but I am not tracking them further. Suffice it to say that Blue John married Letha Smith, his first cousin, the granddaughter of Richard Smith and Nancy Elitia Combs. Lorenzo, “Blue Anze”, married a Fugate cousin, so it’s no surprise that Zachariah and Mary were also progenitor couples of the Blue Fugates.

Martin’s son, Levi Fugate, married Mahala Ritchie, mentioned above, and had Luna Fugate who would have been personally known to Dr. Cawein. Luna, pictured above, at left, was known as the bluest of the Blue Fugates.

Luna married John Stacey who some thought wasn’t related to Luna, so it was confusing why they had one child that was slightly blue. However, John turns out to be Luna’s second cousin, third cousin once removed and first cousin once removed through three different lines. His great-grandparents were Richard Smith and Nancy Combes. Since one of their children had a slight blue tinge, John, while not visibly blue himself, clearly carried the blue gene.

Where Did the Blue Gene Come From?

The parents of Elizabeth Smith and Mary Smith were Richard Smith and Nancy (Eletia) Combs. His Smith ancestors include both the Richeys and Caldwells.

James Richey (1724-1888) married Margaret Caldwell (1729-1802) and his father, Alexander Richey (1690-1749) married Jeanne Caldwell (1689-1785). While the Caldwell females weren’t closely related, Jeanne was the daughter of Joseph Alexander Caldwell (1657-1730) and Jane McGhie, and Margaret Caldwell (1729-1802) was the great-granddaughter of that couple. The Caldwells are shown in magenta, with both Richey/Caldwell couples shown as duplicates. The Richey are highlighted in apricot, and the Caldwell’s with a light grey background. It was difficult to show how these lines connect, so that’s at the very top of the pedigree chart.

When just viewing the Smith-Combs line, it’s easier to view in the Ancestry pedigree.

The Smith, Richey, Combs, Grigsby, and Caldwell lines are all repeated in different locations in the trees, such as with Hannah Fugate’s husband. These repeated ancestors make it almost impossible for us to determine where in the Smith ancestral tree that blue gene originated.

We don’t know which of these ancestral lines actually contributed the blue gene.

Can We Figure Out Where the Blue Gene Came From?

How could we potentially unravel this mystery?

We know for sure that the blue gene in the Fugate side actually descends from Martin Fugate who was born in 1725, or his wife, Sarah, whose surname is unknown, because their two great-grandchildren, Martin (c1820-1899) and Zachariah (1816-1864) who both married Smith sisters had blue children. For those two intervening generations between Martin Fugate (1725-1803) and those two great-grandsons, that blue gene was quietly being passed along, just waiting for a blue Fugate gene carrier to meet another blue gene carrier. They found them in the Smith sisters.

None of Martin (1725-1803) and Sarah’s other children were known to have had any blue children or descendants. So either they didn’t carry the blue gene, or they didn’t marry someone else who did – that we know of.

We can’t tell on the Smith side if the blue gene descends from the Smith, Richey, Grigsby or Caldwell ancestors, or maybe even an unknown ancestor.

How can we narrow this down?

If a Fugate in another geographic location married someone from one of these lineages, say Grigsby, for example, and they had blue offspring, and neither of them shared any of the other lineages, then we could narrow the blue gene in the Smith line to the Grigsby ancestor.

Unfortunately, in Perry and surrounding counties in Kentucky, that would be almost impossible due to intermarriage and pedigree collapse. Even if you “think you know” that there’s no connection through a third line, given the deep history and close proximity of the families, the possibility of unknown ancestry or an unexpected parent is always a possibility.

Discover

While the blue gene is not connected to either Y-DNA or mitochondrial DNA, we do have the Fugate’s Y-DNA haplogroup and the Smith sisters’ mitochondrial DNA.

Y-DNA

The Big Y-700 haplogroup for the Martin Fugate (c1820-1899) line is R-FTA50432, which you can see, here..

You can see the Blue Fugate Family by clicking on Notable Connections.

If you’re a male Fugate descendant who descends from anyone other than Martin Fugate (c1820-c1899), and you take a Big Y test, you may well discover a new haplogroup upstream of Martin (c1820-1899) that represents your common Fugate ancestor.

If you descend from Martin, you may find youself in either of the two haplogroups shown for Martin’s descendants, or you could split the line to form a new haplogroup.

We don’t have the mitochondrial DNA of Martin Fugate (c1820-1899), which would be the mitochondrial DNA of his mother, Nancy Noble. We also don’t have the the mtDNA of Mary (Polly) Wells, the mother of Zachariah Fugate (c1816-1864). If you descend from either of these women in a direct matrilineal line, through all women, please take a mitochondrial DNA test and reach out. FamilyTreeDNA will add it as a Notable Connection.

We do, however, have the mitochondrial DNA of Elizabeth and Mary Smith

Mitochondrial DNA of Elizabeth and Mary Smith

The mitochondrial DNA of both Elizabeth and Mary Smith follows their mother’s line – Nancy Combs through Nancy (Eletia?) Grigsby. Nancy’s mother is unknown, other than the possible first name of Margaret.

Nancy Grigsby’s descendant is haplogroup K1a61a1, which you can see here.

The Blue Fugates show under Notable Connections.

The Smith sisters’ haplogroup, K1a61a1, tells us immediately that their ancestor is European, eliminating other possibilities.

The time tree on Discover is quite interesting

Haplogroup K1a61a1 was formed about the year 1400. Descendants of this haplogroup are found in the UK, Scotland, England, several unknown locations, and one person who selected Native American, which is clearly in error. Haplogroup K is not Native American.

By focusing on the haplotype clusters, identified by the F numbers in the elongated ovals, our tester may be able to identify the mother of Nancy Grigsby, or upstream lineages that they can work back downstream to find someone who married Thomas Grigsby.

This story is far from over. In fact, a new chapter may just be beginning.

If you’re a Fugate, or a Fugate descendant, there’s still lots to learn, even if autosomal DNA is “challenging,” to say the least, thanks to pedigree collapse. Testing known females lineages can help us sort which lines are which, and reveal their hidden stories.

Other resources if you want to read more about the Fugates: The Blue People of Troublesome Creek, Fugates of Kentucky: Skin Bluer than Lake Louise, Those Old Kentucky Blues: An Interrupted Case Study, and Finding the Famous Paintings of the Blue People of Kentucky.

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Genealogy Proof Series – Creating Genealogy Proof Tables

This is the fifth article in the Genealogy Proof Series.

For maximum advantage, I recommend reading these articles in publication order.

In earlier articles, we’ve detailed how to gather resources for specific locations, how and where to search for surnames and the process of extracting and recording information from those sources.

Now, it’s time to use that information and assemble it in a logical way to provide “proof” that the person by the name of “John Smith,” or whoever you’re seeking, is actually YOUR John Smith.

I use a technique that I call Genealogy Proof Tables. We will cover two types here. You’ll need the first one to complete the second one.

Genealogy Proof Tables

Genealogy proof tables have two purposes:

  • Individual Proof Tables – For an individual ancestor, to compile the various pieces of evidence to prove a connection to their parent or parents and their child or children.
  • Lineage Proof Table – Evidence for an entire lineage, proving connections between all of the individuals in the lineage, one by one in both directions. For a lineage proof table we prove a connection to the parent and also to the descendant that is your ancestor for each generation.

Please note that sometimes you actually wind up disproving a relationship, or realizing you need more information, but that’s equally as important. Nothing worse than wasting time by barking up the wrong tree.

A genealogy proof table is a working document that can be used to focus on each ancestor in every ancestral line. What’s included in a proof table varies by which records are available, the timeframe and circumstances.

You may want to prepare proof tables to help yourself focus and evaluate your data. Proof tables can be sent to someone who asks questions like:

  • How do you know that?
  • What is your proof?
  • What are your sources to identify John as the son of George?

People should be asking those questions, and researchers should be able to answer them. You need to answer them for yourself for your own ancestors, even if no one asks.

The answer to these questions may well be that you’re still working on “proof,” but you’ll at least want to have documented everything available to date. For me, doing these exercises helps me think about what’s still missing and looking for additional sources if I actually don’t have “proof.”

Generally, I create a proof table for a specific ancestor, which I then roll up into a comprehensive proof table for the line. This approach helps me identify which pieces of evidence are conclusive and which ones are not.

The purpose of a proof table is to compile and rank information about that ancestor’s connection to their parents, including negative evidence. It’s not meant to be “everything I know” about that ancestor, just the things that relate to proving that this ancestor is in FACT the child of his parent or parents.

What is Proof?

Isn’t this the question of the ages for genealogists? I wrote an article, Ancestors: What Constitutes Proof?, here. In that article, I’ve provided a list of what isn’t proof and some challenges you may face.

Aside from what I’ll term normal genealogy roadblocks to be overcome, there are other challenges as well.

For example, you can have a birth certificate, a death certificate, a will, and personal knowledge that a person lived with their parents – but that child could have been adopted, or the father might not have been the biological father.

In this case, paper proof, no matter how compelling, isn’t actual proof. It can prove the identity of the person, but alone, cannot prove a biological relationship connection.

Sometimes, DNA evidence outweighs everything else, but without DNA evidence, paper proof is the closest we can get. The BCG defines the Genealogical Proof Standard, here.

We need our evidence to be as conclusive as possible.

What does Conclusive Mean?

Conclusive evidence means that any other evidence cannot reliably contradict it, or it’s so strong that it overbears any other evidence. (Thank you Bar Prep Hero.)

In a nutshell, that’s your goal – and all evidence is not created equal.

Evidence is Weighted

Some evidence is better or more solid than other evidence.

Furthermore, sometimes one single piece of evidence isn’t conclusive, but multiple pieces of evidence, taken together, create a body of work and are considered a “preponderance of evidence.” Having said that, I often cringe when I hear that term because sometimes it means there really isn’t good evidence or not enough research has been done.

How good is good enough? You can only work with what’s available and what you have. Unfortunately, one cannot unburn the courthouse!

Sometimes, you’ll need to use DNA evidence. From my perspective, you ALWAYS need to utilize DNA evidence to confirm at least the closest generations.

By closest, I mean that second cousins or closer always match, and you can often reliably use autosomal DNA within, minimally, 5 or 6 generations, but circumstances vary.

Many times I have solid matches to descendants of ancestors 9 or 10 generations in the past, but as you can see in this graphic created by Dr. Paul Maier at FamilyTreeDNA, beginning at eight generations, you may not inherit any DNA from a particular ancestor. Of course, to match someone else, you both need to have inherited the same DNA segment(s) from that ancestor.

You can almost always use Y-DNA to establish relationships beyond what autosomal can confirm, but with both Y-DNA and mitochondrial DNA, you need someone who is appropriately descended from the ancestor in question, as illustrated in this three-generation chart. Sometimes, you need two people descended from that ancestor, preferably through different children, because their Y-DNA or mitochondrial DNA needs to match.

Every situation is different.

How Much Evidence is Enough?

It depends.

Enough for what?

  • Enough to prove that your parent is the child of their parents?
  • Enough to prove to yourself that you’re searching in the right ancestral line?
  • Enough to prove that this John Doe is the same John Doe that moved from Virginia to someplace else, or conversely, the John Doe in Missouri is the one who moved from Virginia?
  • Enough to quality for a lineage society?

Again, from my perspective, enough is not enough until you have looked at every piece of evidence that even MIGHT be relevant for that ancestor.

Essentially, all of this is a bit fluid, so let’s look at an example.

Individual Proof Table

Let’s begin with a proof table for one person.

I’m going to create a proof table to attempt to prove that my paternal grandfather, William George Estes, is the son of Lazarus Estes and Elizabeth Vannoy.

I’ll be using actual documents and information from my files.

If you want to read my 52 Ancestors articles about these people, you can find William George Estes, here, Lazarus Estes, here, and Elizabeth Vannoy, here. I’m not specifically trying to prove that my father, William Sterling Estes, is the son of William George Estes, but some documents cover both men – plus, there’s the possibility of same-name confusion, given that both of their first names are William. I swear, every generation in this family has both Johns and Williams.

To begin, there are a few mandatory categories on every chart. For example, I always use the census when it’s available. You should include these categories even if you don’t have evidence for them, because it reminds you if you’ve searched and the search came up with nothing.

Some categories would be expanded, such as Organizational Societies. For example, if there’s a separate History and Genealogy Society for that county, you would want to check both, as well as the local library and regional or state organizations.

You’ll notice that I’ve assigned a weight to each piece of evidence. Weighting is subjective. Aunt Margaret was the daughter of Wiliam George Estes, so she should know – but often, she didn’t provide any source, like a document or Bible, and she was a bit “eccentric.” In some circumstances, I might weigh what she provided as a 5, but in the first item, I only gave it a 4 because she provided other dates that I found to be erroneous. Memories do fail people.

Red items are direct, confirming evidence of the relationship and that the William George Estes, my grandfather, is the same William George Estes who is the son of Lazarus Estes. Names are spelled or misspelled the way they are in the original source.

William George Estes Information Source Weight (1-5) Comments
Birth March 30, 1873 Aunt Margaret 4 Birth certificates not available in 1873
Father Lazarus Estes
Mother Elizabeth Vannoy
Identity of Parents From letters and discussions 1980s, 1990s Aunt Margaret, Aunt Minnie, children and grandchildren of William G. Estes 5 They knew their grandparents
1880 Census Wm. G. Estis age 7, listed with parents Lazarus and Elisibeth Estis, and siblings, including sister Cornie Claiborne County, TN Dist 8, page 107 on Ancestry 5 Family lives between William G.’s future wife’s uncles
1890 Census destroyed
Marriage Ollie Bolton, Sept 26, 1892. Claiborne County Marriage Index, page 382 5 No parents given
1900 census William G. age 27, with wife, Ollie, and two children Claiborne County, TN Dist 8, page 113 5 Lives next door to Lazarus and Elizabeth Estes and next to his sister Cornie and her husband
1910 census Age 38, with Ollie and two children, Estle and Robert Claiborne County, Civil Dist 4 5 Lives beside sister Cornie and her husband, three houses from Lazarus
Home Location – 1913 Family photos taken in 1913 and labeled “Fowler” Provided by Margaret 5 Written on the back of the family pictures
Home Location Fowler, Indiana Sept 1915 Newspaper article 5 Sons Wm. and Joe ran away and were returned to parents in Fowler
William G. Estes’s divorce from Ollie Fowler, Indiana Aunt Margaret 3 Ollie caught him cheating with her cousin Joyce Hatfield, who was visiting them in Indiana
Divorce from Ollie Unknown, maybe 1916 or 1917 Inferred
Children William S. and Joe “run away” to their grandparents 1915/1916 Fowler, Indiana to Claiborne County, TN Aunt Margaret’s letter, Uncle George, 1915 newspaper articles stated that they tried to run away but got caught 5 Margaret said that when William G. and Ollie divorced,  neither wanted sons Wm. and Joe, 13 and 11, and the boys jumped trains to make their way back to their grandparents, Lazarus and Elizabeth
William George returned to Claiborne County 1916/1917 ish Uncle George Estes, family historian 5 Lazarus was furious when William G. returned after cheating on Ollie and abandoning the boys and threw William G. out of Estes Holler
Move to Harlan County, KY After being thrown out of Estes Holler when he and Ollie divorced Uncle George, Aunt Margaret, Estel’s daughter 5 Settled in Harlan County, KY, just over the border from Claiborne Co., TN
Divorce from Ollie Unknown, about 1916/1917ish Fowler, Ind newspaper August 30, 1917 2 Ollie listed without Wm G and as visiting where she used to live
Marriage Joyce Hatfield, unknown if or when/where married Census, daughter Virginia’s birth Nov. 1918. 3 Inferred, no document found
Child Irene’s Death* August 1, 1916 – Irene Estes, mother Joyce Fury Shawnee, Claiborne Co., TN Informant of the death of daughter, Irenia.

*Please note that this has since been disproven. This William B. Estes who married Josie Fury is not our William G. Estes who married Joicie Hatfield.

Military/draft Registration – signed Sept. 12, 1918, gives birthdate as March 30, 1873 Tazewell, Claiborne County, TN 5 Wife is listed Joisce Estes.
1920 census Age 47, lives with Joise and daughter Virginia Claiborne Civil District 4 5 Future third wife, Crosha Brewer, and her child are living with them as lodgers
Divorce Joice Hatfield Unknown, approx 1921 or 1922 inferred Based on Crosha’s children’s ages
Son William S. Estes’s marriage to Martha Dodder Dec. 12, 1921 Calhoun County, MI 5 Parents are given as Ollie Estes and W. G. Estes
Wm G. Estes child with Croshia Brewer Josephine born March 19, 1923 Springdale, Arkansas 5 Birth certificate, death certificate, census
William George Estes Marriage Croshia Louise Brewer, Feb. 3, 1925, Wise County, VA VA Marriage Registers, page 171 5 Parents given as Lazarus & Elizabeth Estes
1930 census Cannot find the family
1940 census Age 67, living with Crochie and their 2 daughters Harlan Co., KY Lynch dist 5
1940s or 50s Photo with “his sister Cornie” and also one with “Worth Epperson” Claiborne County, TN 5 Photo is labeled and provided by Cornie’s family, who knew him
1950 census 76, lives with Crocie, daughter and boarder Harlan County, KY 5 My mother visited William G. and Crocie with my father in the 1950s.
Cornie Estes Epperson’s 1958 death certificate Born June 22, 1878 to Lazarus Estes and Betty Vannoy, age 79, died Feb. 18, 1958 Death Certificate 5 Correlates to census dates and other data indicating she is the daughter of Lazarus and sister of William G.
Cornie Epperson Obituary Gives Will Estes, of Lynch, KY as her brother. Newspaper clipping 4 Does not give her paents
William Sterling Estes obituary Aug. 28, 1963, Star Press in Muncie, Indiana, page 3 Residence Dunkirk, IN 4 Lists surviving father as W. G. Estes, Cumberland, KY
William George Estes’s death Nov 29, 1971, lived in Harlan Co., KY Kentucky Death Index 5 Parents not given
Obituary Parents not given, living children include Estil, Virginia, Margaret, and Minnie, their locations provided Nov. 30, 1971, Middlesboro Tribune 4 His nephew, Cornie Estes Epperson’s son, Kermit Epperson is a pallbearer
Social Security Claims Index for William G. Jan. 15, 1972 claim, birth 1873 Ancestry 5 SS # given, but no parents given
Social Security Claims Index for my father, William Sterling Estes No claim filed
Will No, rechecked film at FamilySearch 7-8-2024.
Legal No, checked court index in Harlan County
Land Tax No tax lists
Personal Tax No tax lists
Deeds Yes, 1915 deed from Lazarus to Cornie and Worth Epperson where they must pay his other heirs Claiborne County deed book, in person 5 Cornie Estes Epperson to pay William Estes $120
William George Estes signed receipt and release On July 22, 1957, Will signed on the edge of the above deed, releasing the claim on the deed and stating that the $120 had been paid. 5 Confirms his relationship to Lazarus Estes and Cornie Estes Epperson
Sibling Documents Have not looked extensively beyond Cornie
Newspapers Need to revisit when Claiborne County, TN newspapers are digitized
Organizational Searches such as Historical Societies Have not looked recently, need to recheck local libraries
DNA ThruLines to John Y. Estes, father of Lazarus Estes Ancestry 5 Proven via 35 cousin connections to Lazarus’s parents through 3 of John’s siblings
DNA Lazarus Estes ThruLines at Ancestry through Lazarus’s children Ancestry 5 20 matches, 9 through William George, 7 through Cornie, 5 through Charlie Thomas Estes
DNA at FamilyTreeDNA My autosomal matches to Buster Estes, Lazarus’s grandson FamilyTreeDNA 5 Including 556 matches in common and many triangulated segments to descendants of Wm. G., Lazarus, John Y. Estes and upstream ancestors
Other Relationship to wives and children Letters from Aunt Margaret 3 or 4 Clearly states relationship of William G. and Lazarus
Other Relationship to wives and children Letters from William G. to my father 3 or 4 Clearly states relationship of William G. with his siblings and family members

Some types of information are notably unreliable. For example, obituaries may omit people or confuse relationships. William George Estes’s obituary omits his daughter and incorrectly notes her husband, his son-in-law, as William’s child.

Death certificates often give parents incorrectly, especially the mother’s birth surname.

The names of parents in both obituaries and on death certificates are often third-hand information provided by people who are at least two generations removed and are under significant stress at that time. My mother’s obituary was republished two times due to errors made AFTER I provided correct information.

We have several pieces of information that strongly suggest that the William George Estes who was born to Lazarus Estes and Elizabeth Vannoy is the same William George Estes that married Ollie Bolton, but there’s more.

We know for sure that William Estes, who married Croshie/Crosha Brewer, is the same person because his parents are given in the county marriage record book. This is first-hand information and judged to be more reliable because we can reasonably expect that William George knew who his parents were, or at least who they were supposed to be.

If we discount entirely the fact that my aunts personally knew Lazarus as their grandfather, and look only at the paper evidence, we just need to tie William George in his later life to the same William George in his earlier life.

Here’s a photo passed from William George’s daughters to me. Cornie Epperson’s grandchildren had this same photo showing William George Estes with his sister, Cornie Epperson.

Here’s another with Will Estes and Cornie’s husband, Worth Epperson.

Cornie’s children told many stories about their Uncle Will, who rode the bus from Harlan County to Claiborne County, as he didn’t drive. The legendary favorite story was about the time that Will had a bullet in his shirt pocket. It accidentally got mixed into his pipe tobacco, which he put into his pipe and was smoking on the bus.

Yes, the bullet blew up. No one was hurt, and miraculously, the driver didn’t crash. Nevertheless, Will was banished from riding the bus forever thereafter.

That story alone connects the William George Estes living in Lynch, in Harlan County, as the same person, as do his children from all three wives. So do letters from my aunt to family members discussing several people involved, and letters from Will himself in the early 1960s detailing some pretty spicy antics.

However, we’re looking for more than oral history. What other documents do we have?

The Smoking Deed

This deed serves, in essence, as the will of Lazarus Estes and his wife, both of whom conveyed this deed.

Thankfully, it identifies both Cornie and William as their heirs, along with several other children, although it never actually states that the people mentioned are their children. The census confirms that these people, Cornie and William George, along with Martha (Estes) Norris, Charlie Estes, and Lum (James Columbus) Estes mentioned, are their children.

If you’re still wondering if William George Estes is their son, notice the release of lien, stamped on the upper left-hand side of the page decades later, in 1957, with his signature.

This signature matches Will’s other handwriting on letters that he sent in the 1960s, in my possession, and on my father’s delayed birth certificate signed in 1952.

This document provides their relationship, the type of evidence submitted, and both of their addresses and signatures. Evidence doesn’t get much better than this.

For additional signature confirmation, William G. signed his 1918 draft registration in Claiborne County. In Harlan County, KY, in 1957, he signed the delayed birth certificate for his son, Estle, who was born in Springdale, Arkansas, in November of 1894.

When Evidence Isn’t Conclusive

Unfortunately, this situation happens often, especially with generations further back in time where less information is available. Let’s look at an example.

Genealogists tried for years, decades actually, to identify the parents of John R. Estes.

His son was named John Y. Estes.

No one knew what the R. stood for, nor what the Y. stood for. Truthfully, we still don’t, at least not for sure.

Here’s what was said:

  • John R. Estes’s mother was Mary Younger, who was married to George Estes. This claim was made because John R.’s son was named John Y. Estes, the Y. standing for “Younger.” That was the hypothesis, but it was stated as fact.
  • The middle initial R in John R. Estes stands for Regan or Reagan because his grandson, John Reagan Estes, son of John Y. Estes, was “named for his grandfather.” This was told to me by his grandchildren who were living in the early 1990s, as information they were told.

I fully understand why one would think those are possibilities or why conclusions might be drawn. They are clearly possibilities, but without additional evidence, that’s all they are. Eventually, that possibility begins to be passed along as a fact. Then, people don’t want to question what was passed down from “people who should know.”

So, let me play devil’s advocate here.

The Y in John Y. could stand for any number of things. For example, the surname Yancey is also found in Halifax County, Virginia. Y could have come from anyplace. At that point in time, we were searching for the parents of John R. Estes, so Mary Younger seemed to make sense.

Having said that, we now know that John Y. Estes’s grandmother WAS Mary Younger, BUT, that does NOT mean that the Y. stands for Younger, nor does it serve as any kind of concrete evidence.

Might it stand for Younger? Yes, of course. But the Y itself serves only as a potential hint.

Can you use it for evidence? Nope, not without more information. I’ve searched high and low, so if you find “Younger” in a reliable record for this man, by all means, let me know. While confirmation would be wonderful, we really don’t NEED to know like we do with Reagan.

John Reagan Estes (1871-1960), the son of John Y. Estes, could well have been named for his grandfather, John R. Estes (1787-1885). John was his father’s first name as well as his grandfather’s. That does NOT mean that that Reagan was John R. Estes’s middle name. We have no idea where Reagan comes from. If I had a letter from John Reagan’s mother or sister, for example, saying John Reagan was named for his grandpa Estes, who was also named John Reagan, that would be evidence because we have a contemporaneous source and know the information wasn’t assumed or constructed later to “fit” the question about John R. Estes’s middle name.

I have dug for years for any Reagan connection to the Estes line, or to the wives’ lines in upstream generations in Virginia, hoping to prove that Reagan genealogical connection. I have never found it, although that clearly doesn’t mean it’s not there. For all we know, Reagan could have been the name of the preacher or the doctor who delivered someone. It may or may not have anything to do with John R. Estes, and even if it does, Reagan may not be an ancestral surname.

So, if you’re taking yourself down the path of ascribing too much weight to information that may or may not be evidence – don’t. What you can do that’s beneficial is more research. If you think the Y or the R might be a hint, DIG!!! You just might find that evidence. If you haven’t utilized the new FamilySearch full-text AI search, by all means, do. These are the perfect types of situations to research using this amazing tool.

Treat everything as a hint, but it’s not evidence until it’s confirmed.

While we’ve since proven that, indeed, John R. Estes is the son of Mary Younger using other types of evidence, the middle initial R. and the middle name Reagan two generations later still is and may remain a mystery.

In the Weeds

At this point, you might be thinking that we are SO FAR DOWN IN THE WEEDS, and you’d be right, but the answers to our specific question are found here.

Our original goal was to prove that William George Estes was the son of Lazarus Estes and Elizabeth Vannoy.

The items bolded in red in the Individual Proof Table for William George Estes, above, individually and certainly cumulatively “prove” that relationship, as far as a paper trail can go.

The other information, especially taken together, supports that and, more importantly, does not dispute or provide contradictory or conflicting evidence about any of the other evidence. In other words, we have concensus.

Lineage Proof Table

The table below is designed to document the proof that the individual listed under the name column is, in fact, the child of the father and mother below. Other information from the Individual Proof Table that we completed above is omitted because it’s not needed in a Lineage Proof Table.

The Proof rows between the child and their parents are the proof, or the best evidence we have, that connects the child conclusively to the parent or parents. Sometimes that proof can arrive indirectly, such as a sibling’s obituary that lists your ancestor as their sibling – allowing you to connect the sibling who died and your ancestor both to their parents through the census or other documents.

Proof listed will vary and could be personal knowledge (someone you knew within your lifetime), a Bible, a will, a deed, an obituary, a church baptismal document, a pension application, census records, and more.

The best proof, of course, is multiple contemporaneous pieces of evidence.

Proof can also be negative proof. For example, if there was a will but this person was missing, that should be noted. However, that alone is NOT negative proof, as sometimes a child who had already received their inheritance was not mentioned. It does need to be listed because, when combined with other evidence, it may become very important. So is the wording of the will. For example, does it say “all my children,” but omit the person you’re searching for?

Proofs also must take into consideration things like individuals with the same name. In other words, we need to prove that THAT particular John was the son of THAT particular George.

There are times when one must dig deeply as well as far and wide, using siblings and the FAN (friends and neighbors) methodology to reveal a nugget or put enough information together from multiple sources to prove a relationship collectively. For example, I have found proof two generations downstream in Virginia chancery suits that detail the descendants of someone who died and left a will two or three generations earlier.

If this Lineage Proof Table was for my own use, I would utilize a spreadsheet, and I would provide links and more detailed information. For ease of use in this article, I’ve constructed a chart here.

The entire purpose of this lineage document is to unquestionably connect the generations. If these proofs are strong and unquestionable, the only piece of evidence that could upend all of them, together, is an unknown DNA event where a parent or parents are not the individuals reflected in the non-genetic proofs.

Name Birth & Loc Death & Loc Father Mother DNA Confirmed
Me William Sterling Estes Separate lineage proof for mother’s line Father confirmed via paternal half-sister’s children and cousins’ autosomal DNA matches..
Proof My birth certificate, newspaper announcements
Proof Father’s obituary
Proof Social Security application after my father’s death
Proof Personal knowledge, photos, and memories
Proof DNA match at the expected level to my half-sister’s descendants and our upstream Estes relatives
William Sterling Estes Oct. 1, 1902 or 3, Tazewell, TN Aug. 27, 1963, Jay County, IN William George Estes 1873-1971 Ollie Bolton 1874-1955 Autosomal DNA matches to multiple Estes cousins & half-sister’s children
Proof Census and newspaper articles identifying my father as his parents’ child
Proof My father’s marriage license, personal knowledge, and his delayed birth certificate
Proof Death certificate and obituary
Proof Aunts’ knowledge and family letters
William George Estes March 30, 1873, Tazewell, TN Nov. 29, 1971, Harlan Co., KY Lazarus Estes 1845-1916/1918 Elizabeth Vannoy 1846-1918 Autosomal DNA triangulated to multiple descendants of both Lazarus Estes and Elizabeth Vannoy.
Proof Deed to Worth and Cornie Epperson where Lazarus lists William George Estes as one of his heirs – Claiborne Co., Deed Book M2, page 371.
Proof Various censuses showing parents and siblings, including sister Cornie Estes Epperson
Proof Marriage license to Crocie Brewer lists his parents
Proof Cousin George Estes knew these people and was at the funeral of Lazarus when he was a child, plus Aunt Margaret’s letters
Lazarus Estes May 1845, Claiborne Co., TN 1916-1918, Claiborne Co., TN John Y. Estes 1818-1895 Rutha Dodson 1820-1903 Y-DNA confirmed to haplogroup of Moses Estes, autosomal triangulated to descendants of Lazarus and Elizabeth and upstream ancestors through multiple matches.
Proof 1850 and 1860 census with his parents, 1870 census where he lives one house from parents with wife and children, 1880 census where his wife is still living a few houses from his parents, with their children, and John is found in Montague Co., TX
Proof October 1865 deed where John Y. Estes deeds all his possessions to his eldest son, Lazarus. Claiborne Co., Deed book B1, page 37
John Y. Estes December 29, 1818, Halifax Co., VA Sept. 19, 1895, Montague Co., TX John R. Estes 1785/88-1885 Nancy Ann Moore c 1785-1860/1870 Y-DNA confirmed through multiple sons. Autosomal triangulates to several descendants through multiple lines of other children.
Proof Personal written knowledge of Claiborne County attorney, P. G. Fulkerson, published in the local newspaper who listed parents, wife, siblings, and children of John Y. Estes and wife and children of John R. Estes
Proof John R. Estes signed as a witness for John Y. Estes in 1865 when he deeded goods to son Lazarus “for natural love and affection.” In 1850 census John R. Estes lives near sons Jechonias and John Y. Estes
Proof John Y. Estes’s and John R. Estes’s death conveyed in letters between family in Claiborne County, TN, Texas, and Oklahoma
John R. Estes 1785-1788, Halifax Co., VA May 1885, Claiborne Co., TN George Estes 1763-1869 Mary Younger  ~1775-1820/1830 Y-DNA confirmed through multiple lines. Autosomal confirmed triangulation of multiple lines of his children and his ancestors. Descendants’ DNA triangulates to that of Nancy Ann Moore’s ancestors.
Proof Halifax County 1812 personal property tax list where John R. Estes is listed as the son of George Estes and lives next to him.
Proof Halifax Co., VA chancery suit dealing with property of Moses Estes, father of George Estes, lists John R. and his wife’s name and location in Tennessee as Moses’s descendants.
Proof War of 1812 pension application
George Estes Feb. 3, 1763, Amelia Co., VA July 1859, Halifax Co., VA Moses Estes Jr. 1742-1813 Luremia Combs c1742-1820/1830 Y-DNA haplogroup descended from Moses Estes Sr. 1711-1787 and autosomal from his maternal and paternal lines, both.

I’ll stop here because you clearly understand the process. If I were applying for membership in a lineage society, I would simply continue this chart until I reached the individual in question. In this example, George Estes is a Revolutionary War soldier, so I could apply for DAR membership, assuming I meet their various criteria.

Another aid in documenting your ancestors is lineage organizations and their records, but keep in mind that their evidence, especially that submitted decades ago, may not be sufficient today.

DNA Confirmation

DNA can either confirm this relationship, even without a paper trail, or conversely, it can burn it all down.

The closer in time a DNA relationship is, the more likely you’ll be able to confirm it using autosomal DNA.

Sometimes, Y-DNA is a consideration, and it certainly would be in this circumstance, except that I’m not a male, and we don’t have a living Estes male descended directly from William George Estes (through all males) to test.

Mitochondrial DNA can’t be used in this circumstance either since William George Estes’s children have their mother’s mitochondrial DNA, not his.

For the purposes of today’s proof, I used the Family Finder autosomal DNA test.

Buster Estes, now deceased, grandson of Lazarus Estes through his son Charlie Tomas Estes, is my 1C1R, (first cousin once removed). He tested both his Y-DNA and took the autosomal  Family Finder test for me many years ago.

Additionally, Cornie Epperson’s grandchild and great-grandchild, my second cousin and 2C1R, agreed to autosomal DNA testing for me as well. Cornie’s grandchild agreed to test their mitochondrial DNA, which descends from Elizabeth Vannoy – for which I remain immensely grateful.

All of these cousins match me, as well as each other, appropriately, as would be expected for their respective relationships to me and to each other.

Since then, additional descendants of Lazarus Estes and Elizabeth Vannoy have tested and match others at the appropriate, expected level.

I also match other descendants of Elizabeth Vannoy’s parents, as do my cousins, so I can literally walk both Estes and Vannoy segments back in time.

In this case, NOT matching close Estes relatives would conclusively prove that I’m NOT related to the more distant Estes family.

However, if I didn’t match, it’s also possible that my father would not have matched those people either. I don’t have a full sibling through my father, but I do have a half-sibling whose descendants I match appropriately for the expected relationship. That proves that I’m my father’s biological child.

My half-sister died before DNA testing. NOT matching my sister’s descendants would confirm that we were not sisters, meaning we did not share the same father. One or the other of us would probably match Estes descendants, such as our second cousins. Fortunately, we match each other and Estes descendants.

Unfortunately, my half-brother Dave did not match me, nor any Estes family members, providing that we did not share a biological father – a heartbreaking discovery. He’s still my brother though, just not biologically, and I loved him dearly. (For the record, I found Dave’s father and his family after his death.)

I can prove that my father descends from his father because I also match the descendants of my father’s paternal half-siblings, as expected.

I also match (and triangulate with) the descendants of my grandfather’s sibling, Cornie Epperson, as expected, which proves my connection back to Lazarus and, therefore, my father and grandfather’s connection to Lazarus, too.

By the time we reach John R. Estes, son of George Estes, we can also use Y-DNA. While I personally can’t test for the Estes Y-DNA, a descendant of John R. Estes has taken the Big Y-700 test, needed for this level of detail, and they match the unique mutation (R-ZS3700) that occurred between Abraham Estes and his son Moses Estes Sr., then descended through Moses Jr. to George to John R., then on to our tester, confirming this paternal lineage.

Furthermore, I and other descendants of Lazarus Estes autosomally match Y-DNA descendants of John R. Estes as would be expected of 3rd or 4th cousins.

Therefore, by proxy, using both Y-DNA and Family Finder, we are all confirmed to descend from this entire Estes lineage, to and including Lazarus Estes and his son, William George Estes, through my father to me.

Whew!!!

Summary

Yes, it was a long, detailed path to get here using both traditional genealogical research and DNA results, but we did, and that’s really all that matters. I probably provided more examples than I really needed to, but I’m trying to answer as many “what about this” questions as I can, in advance. The Proof Table methodology isn’t cast in concrete and is easy to replicate and adapt based on your situation and the records at hand.

My final word of caution would be to make sure you don’t discount or omit negative evidence inadvertently. I made that mistake when I was less experienced because I didn’t realize the importance of negative evidence.

I’ve seen situations where a resource was not recorded because there “was nothing there,” when the fact that “nothing was there” is in itself important negative evidence that needs to be weighed and considered.

That’s one reason why preparing a list of all the resources in a particular area is so important. When you discover new resources or they become available, be sure to record and check those resources. For example, if a tax list for a particular county or district is uncovered, record that resource, even if the person you’re seeking isn’t listed there. The next question to ask is why they would not be listed, which may lead you to seek out or perhaps reevaluate other information.

Future Topics

I have three more articles planned in this series and expect to publish the next one in the winter.

  • DNA as Proof – or Not
  • Leveling up
  • Writing it Up

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Great News – Both e-Pub and Print Version of “The Complete Guide to FamilyTreeDNA” Now Available Worldwide  

  • Anyone, anyplace, can order the full-color, searchable, e-pub version of The Complete Guide to FamilyTreeDNA – Y-DNA, Mitochondrial, Autosomal and X-DNA from the publisher, Genealogical.com, here.
  • Customers within the US can order the black and white print book from the publisher, here.
  • Customers outside the US can order the print book from their country’s Amazon website. The publisher does not ship print books outside the US due to customs, shipping costs, and associated delays. They arranged to have the book printed by an international printer so that it can be shipped directly to Amazon for order fulfillment without international customers incurring additional expenses and delays. If you ordered the book previously from Amazon and a long delivery time was projected, that should be resolved now and your book should be arriving soon.

Comprehensive

This book is truly comprehensive and includes:

  • 247 pages
  • More than 267 images
  • 288 footnotes
  • 12 charts
  • 68 tips
  • Plus, an 18-page glossary

To view the table of contents, click here. To order, click here.

Thank you, everyone, for your patience and your support.

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Complete Guide to FamilyTreeDNA Released in Hardcopy

Just what many of you have been waiting for! The hardcopy print version of the Complete Guide to FamilyTreeDNA has just been released.

As shown in the table of contents below, The Complete Guide to FamilyTreeDNA contains lots of logically organized information! It includes basic education about genetic genealogy and how it works, instructions on using the FamilyTreeDNA tests and tools, plus an extensive glossary.

Enjoy!

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Announcing: The Complete Guide to FamilyTreeDNA; Y-DNA, Mitochondrial, Autosomal and X-DNA

I’m so very pleased to announce the publication of my new book, The Complete Guide to FamilyTreeDNA – Y-DNA, Mitochondrial, Autosomal and X-DNA.

For the first time, the publisher, Genealogical.com, is making the full-color, searchable e-book version available before the hardcopy print version, here. The e-book version can be read using your favorite e-book reader such as Kindle or iBooks.

Update: The hardcopy version was released at the end of May and is available from the publisher in the US and from Amazon internationally.

This book is about more than how to use the FamilyTreeDNA products and interpreting their genealogical meaning, it’s also a primer on the four different types of DNA used for genealogy and how they work:

  • Autosomal DNA
  • Mitochondrial DNA
  • Y-DNA
  • X-DNA

There’s a LOT here, as shown by the table of contents, below

This book is chocked full of great information in one place. As an added bonus, the DNA glossary is 18 pages long.

I really hope you enjoy my new book, in whatever format you prefer.

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Pedigree Collapse and DNA – Plus an Easy-Peasy Shortcut

Pedigree collapse can be responsible for you sharing more DNA than expected with another person.

What is pedigree collapse?

Pedigree collapse occurs when you descend from the same ancestor(s) through more than one path. In other words, you descend from those ancestors through two different children. Therefore, when matching with someone else who descends through those ancestors, you may share more DNA than would be expected from that level of relationship on the surface, meaning without pedigree collapse.

Endogamy is different and means that you descend from a community of ancestors who descend from the same group of ancestors. Often out-marriage is discouraged or otherwise impossible, so all of the group of people share common ancestors, which means they often match on segments without sharing close ancestors. Examples of descent from endogamous populations are Jewish, Amish, Brethren, Acadian, Native Hawaiian, Māori, and Native American people, among others.

I wrote about the difference between pedigree collapse and endogamy in the article, What’s the Difference Between Pedigree Collapse and Endogamy?

I’ve also written about endogamy in the following articles:

Degrees of Consanguinity

If you’re a genealogist, and especially if you’ve worked with Catholic church records, you’ve probably heard of “degrees of sanguinity,” which are prohibited blood relationships in marriage. For example, siblings are prohibited from marrying because they are too closely related, according to church doctrine.

By SVG remake by WClarke based on original by User:Sg647112c – Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=54804980

Today, we think of the genetic results of inbreeding, but originally, relationships (and consanguinity) also had to do with inheritance.

Essentially, marriages are prohibited by degree of sanguinity, and that degree is calculated based on this relationship chart. Prohibited degrees of consanguinity changed over time. Sometimes, a priest granted dispensation for a couple to wed who was of a prohibited degree of sanguinity. That’s a genealogy goldmine because it tells you where to look for common ancestors. It also tells you something else – that you may share more DNA with other descendants of that couple than one would otherwise expect.

More Than You Ever Expected

Recently, I’ve been working with an academic research team on a very interesting ancient DNA case that involves pedigree collapse. Doing the genealogy and genetic work on how much DNA was expected in a match without pedigree collapse, and how much was expected with pedigree collapse, was very interesting.

The team was working to confirm relationships between people in a cemetery. The burials shared more DNA than anticipated for who the people were believed to be. Enter pedigree collapse.

I can’t disclose the circumstances just yet – but I will as soon as possible. It’s an extremely interesting story.

We needed to ensure that readers, both academic and more generally understood pedigree collapse and our calculations. Why did burials share higher than expected DNA than indicated by the expected relationships? This puzzle becomes much more interesting when you add in pedigree collapse.

Academic researchers and scientists have access to models and mathematical algorithms that normal air-breathing humans don’t have easy access to.
So, what do you do if you and a match have a known pedigree collapse in your tree? How much DNA can you expect to share, and how do you calculate that?

These are all great questions, so let’s take a look.

I’m sharing the PowerPoint slides I prepared for our team on this topic. I’ve removed anything that would identify or even hint at the project and modified the slides slightly for easier consumption.

This presentation has never been given publicly, so you’re first! It seemed a waste to do this work and not share it!

Pedigree Collapse and DNA

Pedigree collapse occurs when you share an ancestor or ancestors through different pathways. In this case, the person at the bottom is the child of parents who were third cousins, but the father’s grandparents were also first cousins.

First cousin marriages were common in the not-too-distant past. Today, you could easily marry your third or fourth cousin and not even realize it unless someone in your family just happened to be a genealogist.

Genealogists use various tools to calculate the expected amount of shared DNA in relationships – first cousins, siblings, or half-siblings, for example. Both the Shared cM Project at DNAPainter and SegcM at DNA-Sci Tools provide tools.

Take a look at the article, DNA: In Search of…Full and Half-Siblings, for some great examples.

First cousins share common grandparents. Their child inherits DNA from two paths that lead back to the same ancestors. Some of that DNA will be the same, meaning the child will or can inherit the same ancestral segment from both parents, and some will be different segments from those ancestors that the parents do not share with each other.

Inheritance – How It Works

Let’s look at inheritance to see how this happens.

Let’s start with full and half-siblings.

Each child inherits half of their DNA from each parent, but not entirely the same half (unless they are identical twins.)

Therefore, full siblings will match on about 50% of their DNA, which is illustrated by the segments on the chromosome browser. However, and this will be important in a minute, about 25% of their DNA is exactly the same, when compared to each other, on the chromosome inherited from their father and mother at the same location.

On the chromosome browser, you can see that three siblings do match. One sibling (the grey background chromosomes) is the person both other full siblings are being compared to, in the example above.

What you can’t determine is whether they share the exact same DNA on both their mother and father’s Chromosome 1, where the matches overlap, for example. We know they both match their sibling, but the top person could match the sibling due to a match from their paternal chromosome in that location, and the bottom person could match due to their maternal chromosome. There’s no way to know, at least not from that view.

The areas where the siblings share exactly the same DNA on both their maternal and paternal chromosome, both, with each other are called Fully Identical REgions (FIR), as compared to Half Identical Regions (HIR) where the siblings match on either their maternal or paternal copy of the chromosome, but not both.

23andMe used to provide a tool that displayed both types of matches.

Since the data exposure incident at 23andMe, they no longer provide this lovely tool, and since that help page is now gone as well, I doubt this view will ever be returned. Fortunately, I grabbed a screenshot previously.

The dark purple segments are fully identical, meaning that these two full siblings match on both their maternal and paternal chromosomes in that location. The magenta are half identical, which means they match on EITHER the maternal or paternal chromosome in that location but not on both chromosomes. Of course, no color (light grey) means there is no match at that location.

Please note that because 23andMe counts fully identical regions (FIR) twice, their total matching cMs are elevated. The other companies do NOT count those regions twice.
GEDmatch also shows both full and half-identical regions as described more fully, here.

In this full-sibling example from GEDmatch, the green segments are fully identical regions across both the maternal and paternal chromosomes.

The definition of FIR is that two people match on both their mother’s and father’s DNA on the same chromosome. Therefore, in following generations, there technically should not be FIR matches, but in some instances we do find FIR matches outside of full siblings.

Moving down another generation, first cousins may share SOME fully identical DNA, especially if they are from an endogamous population or their mothers are related, but less, and it’s generally scattered.

Here’s my Mom’s GEDmatch comparison to her first cousin. The purple-legend segment shows a match, and the green within that match shows fully identical locations.

You can easily see that these are very scattered, probably representing “chance” or population-based fully identical matching locations within a segment. Comparatively, the green FIR segments for full siblings are dense and compact, indicating a segment that is fully identical.

Evaluating matches for dense FIR segments (known as runs of homozygosity – ROH) is a good indicator of parental relatedness.

Double Cousins

Of course, if these people were double first cousins, where the wives of the siblings were sisters to each other – the first cousins would have large patches of dense green FIR segments.

First cousins share grandparents.

Double first cousins occur when two people share both sets of grandparents, meaning that brothers marry sisters. Normal first cousins share about 12.5% of their DNA, but double first cousins share about 25% of their DNA.

In this case, Sharon and Donna descend from two brothers, James and Henry, who were sons of Joseph and Jane. In this scenario, James and Henry married unrelated women, so Sharon and Donna are first cousins to each other.

Double first cousins share both sets of grandparents so they would inherit FIR from both sets of siblings.

You need to be aware of this, but for now, let’s stick with non-double relationships. You’re welcome!

DNA Inheritance

Here’s a different example of DNA inheritance between two siblings.

  1. You can see that in the first 50 cM segment, both siblings inherited the same DNA from both parents, so they match on both their mother’s and father’s chromosomes. They match on both the 50 cM green and 50 cM pink segments. 23andMe would count that as 100 cMs, but other vendors only count a segment IF it matches, NOT if it matches twice. So, other vendors count this as a 50 cM match.
  2. In column two, these two people don’t match at all because they inherited different DNA from each parent. In this example, Person 1 inherited their maternal grandmother’s segment, and Person 2 inherited their maternal grandfather’s segment.
  3. In column three, our siblings match on their paternal grandmother’s segment.
  4. In column four, no match again.

How much can we expect to inherit at different levels – on average?

Different tools differ slightly, and all tools provide ranges. In our example, I’ve labeled the generations and how much shared DNA we would expect – WITHOUT pedigree collapse.

Ancestral couple Inherited cM Inherited %
Gen 1 – Their children 3500 cM 50
Gen 2 – Grandchildren 1750 cM 25
Gen 3 – Great-Grandchildren 875 cM 12.5
Gen 4 – GG-Grandchildren 437.5 6.25
Gen 5 – GGG-Grandchildren 218.75 3.125
Gen 6 – GGGG-Grandchildren 109.375 1.5625
Gen 7 – GGGG-Grandchildren 54.6875 .078125

Please note that this is inherited DNA, not shared (matching) DNA with another person.

Adding in pedigree collapse, you can see that we have three Gen 1 people involved, three Gen 2 descendants, and two Gen 3 and Gen 4 people.

Each of those people inherit and pass on segments from our original couple at the top.
We have three distinct inheritance paths leading from our original couple to Gen 5.
We have a first cousin marriage at Gen 2, at left, which means that their child, Gen 3, will have an elevated amount of the DNA of their common ancestors.

In Gen 4, two people marry who both descend from a common couple, meaning their child, Gen 5, descends from that couple in three different ways.

Did your eyes just glaze over? Well, mine did, too, which is why I had to draw all of this out on paper before putting it into PowerPoint.

The Gen 5 child inherits DNA from the ancestral couple via three pathways.
The next thing to keep in mind is that just because you inherit the DNA from an ancestor does not mean you match another descendant. Inheritance is not matching.

You must inherit before you can match, but just because you and someone else have inherited a DNA segment from a common ancestor does not guarantee a match. Those segments could be in different locations.

Categories of DNA

When dealing with inheritance and descent, we discuss four categories of DNA.

  • In the first generation, full siblings will, in about 25% of their locations, share the same DNA that has been inherited from both parents on the same chromosome. In other words, they match each other both maternally and paternally at that location. Those are FIR.
  • The DNA you inherit from an ancestor.
  • The DNA that both you and your cousin(s) inherit from a common ancestor and match on the same location. This is shared DNA.
  • The DNA that both you and your cousin(s) inherit from a common ancestor, but it’s not in the same location, so you do not match each other on that segment. Just because you inherit DNA from that ancestor does not necessarily mean that your cousin has the same DNA from that ancestor. This is inherited but not shared.

Inheritance is Not The Same as Matching

Inheritance is not the same thing as matching.

Inheriting our ancestor’s DNA isn’t enough. We need to match someone else who inherited that same segment in order to attribute the segment to that specific ancestor.

Depending on how close or distant the relationship, two people may share a lot of DNA (like full siblings), or one segment in more distant matches, or sometimes none at all. As we reach further back in time, we inherit less and less of our increasingly distant ancestors’ DNA, which means we match increasingly fewer of their descendants. I wrote about determining ancestral percentages in the article,  Ancestral Percentages – How Much of Them is in You?

Based on how much DNA we share with other known relatives, we can estimate relationships.

Pedigree collapse, where one descends from common ancestors more than once, increases the expected amount of inherited DNA, which in turn increases the probability of a shared match with other descendants.

Ancestral Couple Matching Between Shared DNA ~cM Shared DNA ~% Range (Shared cM Project) FIR – Identical DNA
Generation 1 Full Siblings 2600 50 1613-3488 25%
Generation 2 First Cousins 866 12.5 396-1397 0
Generation 3 Second Cousins 229 3.125 41-592 0
Generation 4 Third Cousins 73 0.78125 0-234 0

Here’s an example through third cousins, including expected FIR, fully identical regions where full siblings match each other on both their maternal and paternal chromosomes in the same location.

I provided a larger summary chart incorporating the information from public sources, here, minus FIR.

Of course, double cousins, where two pairs of siblings marry each other, represent another separate level of complexity. DNA-Sci’s Double Cousin Orogen explains this here and also provides a tool.

Double cousins, meaning when two pairs of siblings marry each other, are different from doubly related.

Doubly related means that two people descend from common ancestors through multiple paths, meaning multiple lines of descent. Doubly related is pedigree collapse. Double cousins is pedigree collapse on steroids.

Pedigree Collapse, aka Doubly Related

Calculating expected inherited DNA from multiple lines of descent is a bit more challenging.

A handy-dandy chart isn’t going to help with multiple relationships because the amount of expected shared DNA is based on the number of and distance of relationships.

Please note that this discussion excludes X-DNA matching which has its own inheritance path.

It’s time for math – but I promise I’ll make this relatively easy – pardon the pun.

What’s Behind the Math?

So, here’s the deal. I want you to understand why and how this works. You may not need this information today, but eventually, you probably will. This is one of those “refer back to it” articles for your personal library. Read this once as a conceptual overview, then read it again if you need to work through the relationships.

This is easy if you take it one step at a time.

First, we calculate each path separately.

In the first generation, full siblings inherit identical (FIR) DNA on both their mother’s and father’s chromosomes.

In the second generation, the male inherits the maternal segment, and the female inherits the paternal segment.

In the third generation, their child inherits those segments intact from both of their parents. The child inherits from the ancestral couple twice – once through each parent.

In generation 1, those two segments were FIR, fully identical regions. Both of those men married unrelated wives. When their children, Gen 2, were born, they had either the maternal or paternal segment from their father because they had an entirely different segment in that location from their mother.

However, the child in Gen 3 inherited the original green segment from their father and the original pink segment from their mother – reuniting those FIR segments in later generations.

First Cousin’s Child

Let’s calculate the inheritance for the child of those two first cousins who married.

Ancestral couple Inherited cM Inherited %
Gen 3 – Great-Grandchildren 875 cM 12.5
Gen 3 – Great-Grandchildren 875 cM 12.5
Total 1750 cM 25

Normally, a Gen 3 person inherits roughly 875 cM, or 12.5% of their great-grandparent’s DNA. However, since their grandparents were first cousins, they inherit about twice that amount, or 1750 cM.

While a Gen 3 person inherits as much as a grandchild (25%) normally would from the original couple, they won’t match on all of that DNA. When matching, we need to subtract some of that DNA out of the equation for two reasons:

  • In the first generation, between siblings, some of their DNA was fully identical and cannot be identified as such.
  • In the second generation, they will each have some parts of the ancestral couple’s DNA that will not match the other person. So, they inherit the same amounts from their common ancestors, but they can only be expected to match on about 25% of that amount two generations later.

However, the child of first cousins who marry inherits more DNA of the common ancestors than they would if their parents weren’t related. It’s just that some of that DNA is the same, potentially on the maternal and paternal chromosomes again, and some won’t match at all.

While matching DNA is the whole point of autosomal DNA testing, fully identical DNA matching regions (FIR) cannot be identified that way. For the most part, other than identifying full and half-siblings, sometimes pedigree collapse, and parent-relatedness, fully identical DNA isn’t terribly useful for genealogy. However, we still need to understand how this works.

It’s OK if you just want to say, “I know we’ll share more DNA due to pedigree collapse,” but if you want to know how much more to expect, keep reading. I’d really like for you to understand use cases and be able to track those segments.

Remember, we will learn a super-easy shortcut at the end, so for now, just read. It’s important to understand why the shortcut works.

Sibling Inheritance Versus Matching

In order to compare apples to apples, sometimes we need to remove some portion of DNA in our calculations.

Remember story problems where you had to “show your work”?

Calculating Expected DNA

Here’s the step-by-step logic.

Ancestral couple Inherited Non-Identical cM Inherited %
Gen 1 first son 3500 50
Gen 1 second son 3500 50
Less identical segments (FIR) -1750 (subtracted from one child for illustration) 25
Gen 2 son 1750 25
Gen 2 daughter married Gen 2 son 875 12.5
Gen 3 – Their child path through Gen 2 son 875 cM 12.5
Gen 3 – Their child path through Gen 2 mother 437.5 cM 6.25
Their child total without removing identical segments 1750 cM 25
Their child total after removing identical segments 1312.5 18.75

Category cMs Most Probable Degree Relationship
No Pedigree Collapse 875 98% Great grandparent or great-grandchild, great or half aunt/uncle, great or half niece/nephew, 1C 3
Pedigree Collapse without identical segment removal 1750 100% Grandparent, grandchild, aunt/uncle, half-sibling, niece/nephew 2
Pedigree Collapse after identical segment removal 1312.5 56% grandparent, grandchild, aunt/uncle, niece/nephew, half-sibling 2

Just because you HAVE this much shared (and/or identical) DNA doesn’t mean you’ll match on that DNA.

Next, let’s look at Gen 5 child who inherited three ways from the ancestors.

If you think, “This will never happen,” remember that it did, which is why I was working through this story problem. It’s not uncommon for families to live in the same area for generations. You married who you saw – generally, your family and neighbors, who were likely also family.

Let’s take a look at that 5th generation child.

The more distantly related, the less pedigree collapse affects matching DNA. That’s not to say we can ignore it.

Here’s our work product. See, this isn’t difficult when you take it step by step, one at a time.

Ancestral couple Inherited Non-Identical cM Inherited %
Gen 3 Child total after removing identical segments 1312.5 18.75
Gen 4 father – half of Gen 3 father 656.25 9.375
Gen 5 child – half of Gen 4 father 328.125 4.6875
Gen 5 child – mother’s side calculated from ancestral couple normally 218.75 3.125
Total for Gen 5 Child 546.875 7.8125

Inheritance Ranges

Lots of factors can affect how much DNA a person in any given generation inherits from an ancestor. The same is true with multiple paths from that same ancestor. How do we calculate multiple path inheritance ranges?

As with any relationship, we find a range, or combined set of ranges for Gen 5 Child based on the multiple pathways back to the common ancestors.

Gen 5 Child Inherited Non-Identical cM Inherited %
Without removing either paternal or maternal identical cMs 656.25 9.375
After removing paternal identical cMs only 546.875 7.8125

 

After removing maternal cMs only 546.875 7.8125

 

After removing both paternal and maternal identical cMs 362.50 6.25
Normal Gen 5 no pedigree collapse 218 3.125

What About Matching?

Inheritance and matching are different. Most of the time, two people are unlikely to share all of the DNA they inherited from a particular ancestor. Of course, inheriting through multiple paths increases the likelihood that at least some DNA from that ancestor is preserved and that it’s shared with other descendants.

Two people aren’t expected to match on all of the segments of DNA that they inherit from a particular ancestor. The closer in time the relationship, the more segments they will inherit from that ancestor, which increases the chances of matching on at least one or some segments.

Clearly, pedigree collapse affects matching. It’s most pronounced in closer relationships, but it may also be the only thing that has preserved that ONE matching segment in a more distant relationship.

So, how does pedigree collapse actually affect the likelihood of matching? What can we actually expect to see? Is there a name for this and a mathematical model to assist with calculations?

I’m so glad you asked! It’s called Coefficient of Relationship.

Coefficent of Relationship

My colleague, Diahan Southard, a scientist who writes at YourDNAGuide has authored two wonderful articles about calculating the statistical effects of pedigree collapse.

You can also read another article about the methodology of calculating coefficient of relationship, here, on WaybackMachine.

Diahan is a math whiz. I’m not, so I needed to devise something “quick and dirty” for my own personal use. I promised you a “cheat sheet,” so here’s the methodology.

Two Inheritance Paths – First and Third Cousins

Let’s look at an example where two people are both first cousins and third cousins because their grandparents were also first cousins.

Let’s calculate how these two people are related. They are first cousins and also third cousins.

When calculating the effects of pedigree collapse, we calculate the first relationship normally, then calculate the second relationship and add a portion of the result.

Here’s the math.

Using the Shared cM Project for the expected amount of shared DNA for both relationships, we’ve calculated the expected range for this pedigree collapse relationship.

Tying this back to degrees of relatedness.

Let’s look at ways to do Quick Calculations using the publicly available Shared cM charts and my composite tables, here.

Using Average Shared DNA

This first methodology uses average expected amount of shared, meaning matching, DNA. Please note, I’m not necessarily expecting you to DO this now, just read to follow.

Using Average Inherited DNA

Here’s a second method using average inherited DNA, meaning people wouldn’t be expected to match on all of the inherited DNA – just a portion.

You can’t always use the shared cM charts because all relationships aren’t represented, so you may need to use the amount of expected inherited DNA instead of shared DNA amounts.

Methodology Differences

Remember, none of these methodologies are foolproof because DNA inheritance is random. You may also have additional relationships that you’re aware of.

So, what’s the easiest method? Neither, actually. I’ve found an even easier method based on these proven methodologies.

Easy-Peasy Pedigree Collapse Shortcut Range Calculation in 4 Steps

Now that you understand the science and reasoning behind all of this, you can choose from multiple calculation methodologies after drawing a picture of the relevant tree.

You’re probably wondering, “What’s the easiest way to do this?”

  • These quick calculation methods are the easiest to work with for non-scientists and non-math whizzes. These are the calculations I use because, taking into account random recombination, you can’t do any better than get close.
  • Also, remember, if you’re dealing with double relationships, meaning double first cousins, you’ll need to take that into consideration, too.
  • If endogamy is involved, your matches will be higher yet, and you should use the highest calculations below because you need to be on the highest end of the range – and that may still not be high enough.

In these Easy-Peasy calculations, you calculate for the lowest, then the highest, and that’s your range. Please note that these are options, and truly, one size does not fit all.

  1. For the lowest end of the range, simply use the average of the highest relationship. In this case, that would be 1C, which is 866 cM. Remember that you may not share DNA with third cousins. 10% of third cousins don’t share any DNA, and 50% of fourth cousins don’t.
  2. For the highest end of the range, find the second relationship in the Shared cM chart, divide the average by half, and add to the value from the closest relationship. In this case, half of the 3C value of 76 is 38.
  3. Add 38 to 866 for the highest end of the range of 904.
  4. If there’s yet another path to ANY shared ancestor, add half that amount too to calculate the high end of the range – unless it’s 4C or more distant, then don’t add anything.

You can see that this easy-peasy range calculation for pedigree collapse compares very well to the more complex but still easy calculations.

  • Easy-peasy calculation: 866-904
  • Other calculation methods: 850-903
  • For this same relationship combination, Diahan’s statistical calculation was 850 cM.

Back to Genealogy

What’s the short story about how pedigree collapse affects genealogy?

Essentially, in close generations, meaning within a few generations of two first cousins marrying, descendants can expect to inherit and share significantly more DNA of the common ancestors, but not double the amount. As we move further away from those marriages in time, the effect becomes less pronounced and more difficult to detect. You can see that effect when calculating multiple paths where at the fourth cousin level, or more distant, those cousins have a 50% or greater possibility of not sharing DNA segments.

Of course, with multiple paths to the same ancestor, your chances of inheriting at least some segments from the common ancestor are increased because their DNA descends through multiple paths.

Today, close marriages are much less common and have been for several generations in many cultures, so we see fewer instances where pedigree collapse makes a significant difference.

Within a population or group of people, if pedigree collapse becomes common, meaning that there are multiple paths leading back to common ancestors, like our three-path example, DNA segments from the common ancestors are found among many people. Significant pedigree collapse becomes endogamy, especially if marriage outside of the group is difficult, impossible, or discouraged.

Normally, pedigree collapse is not recorded in actual records. It’s left to genealogists to discover those connections.

The exception, of course, is those wonderful Catholic parish records where the priest granted dispensations. Sometimes, that’s our only hint to earlier genealogy. In the case of the marriage of Marie-Josesphe LePrince to Jacques Forest, the priest wrote “dispense 3-3 consanguinity,” which tells us that they shared great-grandparents. It also tells us that their grandparents were siblings, that the bride and groom were second cousins, and that their children and descendants inherited an extra dose of DNA from their common great-grandparents.

How does that affect me today? Given that I’m their seventh-generation descendant – probably not at all. Of course, they are Acadian, and the Acadians are highly endogamous, which means I match many Acadians because all Acadians share the DNA of just a few founders, making it almost impossible to track segments to any particular ancestor. If it weren’t for endogamy, I would probably match few, if any, of their descendants.

Now, when you see those Catholic church dispensations or otherwise discover pedigree collapse, you can be really excited, because you understand the effects of pedigree collapse and how to calculate resulting matches! You might, just might, have retained a DNA segment from those ancestors because you inherited segments through multiple paths – increasing the probability that one survived.

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Which DNA Test Should I Buy? And Why?

Which DNA test should I buy, and why?

I receive questions like this often. As a reminder, I don’t take private clients anymore, which means I don’t provide this type of individual consulting or advice. However, I’m doing the next best thing! In this article, I’m sharing the step-by-step process that I utilize to evaluate these questions so you can use the process too.

It’s important to know what questions to ask and how to evaluate each situation to arrive at the best answer for each person.

Here’s the question I received from someone I’ll call John. I’ve modified the wording slightly and changed the names for privacy.

I’m a male, and my mother was born in Charleston, SC. My maternal grandmother’s maiden name was Jones and a paternal surname was Davis. The family was supposed to have been Black, Dutch, Pennsylvania Dutch, and Scots-Irish…only once was I told I was 3/16 Indian, with Davis being 3/4 and Jones being full Indian.

Do I have enough reasonable information to buy a test, and which one?

Please note that it’s common for questions to arrive without all the information you need to provide a sound answer – so it’s up to you to ask those questions and obtain clarification.

Multiple Questions

There are actually multiple questions here, so let me parse this a bit.

  1. John never mentioned what his testing goal was.
  2. He also never exactly said how the paternal line of Davis was connected, so I’ve made an assumption. For educational purposes, it doesn’t matter because we’re going to walk through the evaluation process, which is the same regardless.
  3. John did not include a tree or a link to a tree, so I created a rudimentary tree to sort through this. I need the visuals and normally just sketch it out on paper quickly.
  4. Does John have enough information to purchase a test?
  5. If so, which test?

There is no “one size fits all” answer, so let’s discuss these one by one.

Easy Answers First

The answer to #4 is easy.

Anyone with any amount of information can purchase a DNA test. Adoptees do it all the time, and they have no prior information.

So, yes, John can purchase a test.

The more difficult question is which test, because that answer depends on John’s goals and whether he’s just looking for some quick information or really wants to delve into genealogy and learn. Neither approach is wrong.

Many people think they want a quick answer –  and then quickly figure out that they really want to know much more about their ancestors.

I wrote an article titled DNA Results – First Glances at Ethnicity and Matching for new testers, here.

Goals

Based on what John said, I’m going to presume his goals are probably:

  • To prove or disprove the family oral history of Black, Dutch, Pennsylvania Dutch (which is actually German,) Scots-Irish, and potentially Native American.
  • John didn’t mention actual genealogy, which would include DNA matches and trees, so we will count that as something John is interested in secondarily. However, he may need genealogy records to reach his primary goal.

If you’re thinking, “The process of answering this seemingly easy question is more complex than I thought,” you’d be right.

Ethnicity in General

It sounds like John is interested in ethnicity testing. Lots of people think that “the answer” will be found there – and sometimes they are right. Often not so much. It depends.

The great news is that John really doesn’t need any information at all to take an autosomal DNA test, and it doesn’t matter if the test-taker is male or female.

To calculate each tester’s ethnicity, every testing company compiles their own reference populations, and John will receive different results at each of the major companies. Each company updates their ethnicity results from time to time as well, and they will change.

Additionally, each company provides different tools for their customers.

The ethnicity results at different companies generally won’t match each other exactly, and sometimes the populations look quite different.

Normally, DNA from a specific ancestor can be found for at least 5 or 6 generations. Of course, that means their DNA, along with the DNA from all of your other ancestors is essentially combined in a communal genetic “pot” of your chromosomes, and the DNA testing company needs to sort it out and analyze your DNA for ethnicity.

DNA descended from ancestors, and their populations, further back in people’s trees may not be discerned at all using autosomal DNA tests.

A much more specific “ethnicity” can be obtained for both the Y-DNA line, which is a direct patrilineal line for men (blue arrow,) and the mitochondrial DNA line (pink arrows,) which is a direct matrilineal line for everyone, using those specific tests.

We will discuss both of those tests after we talk about the autosomal tests available from the four major genealogy DNA testing companies. All of these tools can and should be used together.

Let’s Start with Native American

Let’s evaluate the information that John provided.

John was told that he “was 3/16 Indian, with Davis being 3/4 and Jones being full Indian.”

We need to evaluate this part of his question slightly differently.

I discussed this in the article, Ancestral DNA Percentages – How Much of Them is in You?

First, we need to convert generations to 16ths.

You have two ancestors in your parent’s generation, four in your grandparents, and so forth. You have 16 great-great-grandparents. So, if John was 3/16th Native, then three of his great-great-grandparents would have been fully Native, or an equivalent percentage. In other words, six ancestors in that generation could have been half-Native. Based on what John said, they would have come from his mother’s side of the tree. John is fortunate to have that much information to work with.

He told us enough about his tree that we can evaluate the statement that he might be 3/16ths Native.

Here’s the tree I quickly assembled in a spreadsheet based on John’s information.

His father, at left, is not part of the equation based on the information John provided.

On his mother’s side, John said that Grandfather Davis is supposed to be three-quarters Native, which translates to 12/16ths. Please note that it would be extremely beneficial to find a Y-DNA tester from his Davis line, like one of his mother’s brothers, for example.

John said that his Grandmother Jones is supposed to be 100% Native, so 16/16ths.

Added together, those sum to 28/32, which reduces down to 14/16th or 7/8th for John’s mother.

John would have received half of his autosomal DNA from his mother and half from his non-Native father. That means that if John’s father is 100% non-Native, John would be half of 14/16ths or 7/16ths, so just shy of half Native.

Of course, we know that we don’t always receive exactly 50% of each of our ancestors’ DNA (except for our parents,) but we would expect to see something in the ballpark of 40-45% Native for John if his grandmother was 100% Native and his grandfather was 75%.

Using simple logic here, for John’s grandmother to be 100% Native, she would almost assuredly have been a registered tribal member, and the same if his grandfather was 75% Native. I would think that information would be readily available and well-known to the family – so I doubt that this percentage is accurate. It would be easy to check, though, on various census records during their lifetimes where they would likely have been recorded as “Indian.” They might have been in the special “Indian Census” taken and might be living on a reservation.

It should also be relatively easy to find their parents since all family members were listed every ten years in the US beginning with the 1850 census.

The simple answer is that if John’s grandparents had as much Native as reported, he would be more than 3/16th – so both of these factoids cannot simultaneously be accurate. But that does NOT mean neither is accurate.

John could be 7/8th or 40ish%, 3/16th or 18ish%, or some other percentage. Sometimes, where there is smoke, there is fire. And that seems to be the quandary John is seeking to resolve.

Would  Ethnicity/Population Tests Show This Much Native?

Any of the four major testing companies would show Native for someone whose percentage would be in the 40% or 18% ballpark.

The easiest ethnicities to tell apart from one another are continental-level populations. John also stated that he thinks he may also have Black ancestry, plus Dutch, Pennsylvania Dutch (German), and Scots-Irish. It’s certainly possible to verify that using genealogy, but what can DNA testing alone tell us?

How far back can we expect to find ethnicities descending from particular ancestors?

In this table, you can see at each generation how many ancestors you have in that generation, plus the percentage of DNA, on average, you would inherit from each ancestor.

All of the major DNA testing companies can potentially pick up small trace percentages, but they don’t always. Sometimes one company does, and another doesn’t. So, if John has one sixth-generation Native American ancestor, he would carry about 1.56% Native DNA, if any.

  • Sometimes a specific ethnicity is not found because, thanks to random recombination, you didn’t inherit any of that DNA from those ancestors. This is why testing your parents, grandparents, aunts, uncles, and siblings can be very important. They share your same ancestors and may have inherited DNA that you didn’t that’s very relevant to your search.
  • Sometimes it’s not found because the reference populations and algorithms at that testing company aren’t able to detect that population or identify it accurately, especially at trace levels. Every DNA testing company establishes their own reference populations and writes internal, proprietary ethnicity analysis algorithms.
  • Sometimes it’s not found because your ancestor wasn’t Native or from that specific population.
  • Sometimes it’s there, but your population is called something you don’t expect.

For example, you may find Scandinavian when your ancestor was from England or Ireland. The Vikings raided the British Isles, so while some small amount of Scandinavian is not what you expect, that doesn’t mean it‘s wrong. However, if all of your family is from England, it’s not reasonable to have entirely Scandinavian ethnicity results.

It’s also less likely as each generation passes by that the information about their origins gets handed down accurately to following generations. Most non-genealogists don’t know the names of their great-grandparents, let alone where their ancestors were from.

Using a 25-year average generation length, by the 4th generation, shown in the chart above, you have 16 ancestors who lived approximately 100 years before your parents were born, so someplace in the mid-1800s. It’s unlikely for oral history from that time to survive intact. It’s even less likely from a century years earlier, where in the 7th generation, you have 128 total ancestors.

The best way to validate the accuracy of your ethnicity estimates is by researching your genealogy. Of course, you need to take an ethnicity test, or two, in order to have results to validate.

Ethnicity has a lot more to offer than just percentages.

Best Autosomal Tests for Native Ethnicity

Based on my experience with people who have confirmed Native ancestry, the two best tests to detect Native American ethnicity, especially in smaller percentages, are both FamilyTreeDNA and 23andMe.

Click images to enlarge

In addition to percentages, both 23andMe and FamilyTreeDNA provide chromosome painting for ethnicity, along with segment information in download files. In other words, they literally paint your ethnicity results on your chromosomes.

They then provide you with a file with the “addresses” of those ethnicities on your chromosomes, which means you can figure out which ancestors contributed those ethnicity segments.

The person in the example above, a tester at FamilyTreeDNA, is highly admixed with ancestors from European regions, African regions and Native people from South America.

Trace amounts of Native American with a majority of European heritage would appear more like this.

You can use this information to paint your chromosome segments at DNAPainter, along with your matching segments to other testers where you can identify your common ancestors. This is why providing trees is critically important – DNA plus ancestor identification with our matches is how we confirm our ancestry.

This combination allows you to identify which Native (or another ethnicity) segments descended from which ancestors. I was able to determine which ancestor provided that pink Native American segment on chromosome 1 on my mother’s side.

I’ve provided instructions for painting ethnicity segments to identify their origins in specific ancestors, here.

Autosomal and Genealogy

You may have noticed that we’ve now drifted into the genealogy realm of autosomal DNA testing. Ethnicity is nice, but if you want to know who those segments came from, you’ll need:

  • Autosomal test matching to other people
  • To identify your common ancestor with as many matches as you can
  • To match at a company who provides you with segment information for each match
  • To work with DNAPainter, which is very easy

The great news is that you can do all of that using the autosomal tests you took for ethnicity, except at Ancestry who does not provide segment information.

Best Autosomal Test for Matching Other Testers

The best autosomal test for matching may be different for everyone. Let’s look at some of the differentiators and considerations.

If you’re basing a testing recommendation solely on database size, which will probably correlate to more matches, then the DNA testing vendors fall into this order:

If you’re basing that recommendation on the BEST, generally meaning the closest matches for you, there’s no way of knowing ahead of time. At each of the four DNA testing companies, I have very good matches who have not tested elsewhere. If I weren’t in all four databases, I would have missed many valuable matches.

If you’re basing that recommendation on which vendor began testing earliest, meaning they have many tests from people who are now deceased, so you won’t find their autosomal tests in other databases that don’t accept uploads, the recommended testing company order would be:

If you’re basing that recommendation on matches to people who live in other countries, the order would be:

Ancestry and 23andMe are very distant third/fourth because they did not sell widely outside the US initially and still don’t sell in as many countries as the others, meaning their testers’ geography is more limited. However, Ancestry is also prevalent in the UK.

If you’re basing that recommendation on segment information and advanced tools that allow you to triangulate and confirm your genetic link to specific ancestors, the order would be:

Ancestry does NOT provide any segment information.

If you’re basing that recommendation on unique tools provided by each vendor, every vendor has something very beneficial that the others don’t.

In other words, there’s really no clear-cut answer for which single autosomal DNA test to order. The real answer is to be sure you’re fishing in all the ponds. The fish are not the same. Unique people test at each of those companies daily who will never be found in the other databases.

Test at or upload your DNA to all four DNA testing companies, plus GEDmatch. Step-by-step instructions for downloading your raw data file and uploading it to the DNA testing companies who accept uploads can be found, here.

Test or Upload

Not all testing companies accept uploads of raw autosomal DNA data files from other companies. The good news is that some do, and it’s free to upload and receive matches.

Two major DNA testing companies DO NOT accept uploads from other companies. In other words, you have to test at that company:

Two testing companies DO accept uploads from the other three companies. Uploads and matching are free, and advanced features can be unlocked very cost effectively.

  • FamilyTreeDNA – free matching and $19 unlock for advanced features
  • MyHeritage – free matching and $29 unlock.for advanced features

I recommend testing at both 23andMe and Ancestry and uploading one of those files to both FamilyTreeDNA and MyHeritage, then purchasing the respective unlocks.

GEDmatch

GEDmatch is a third-party matching site, not a DNA testing company. Consider uploading to GEDmatch because you may find matches from Ancestry who have uploaded to GEDmatch, giving you access to matching segment information.

Other Types of DNA

John provided additional information that may prove to be VERY useful. Both Y-DNA and mitochondrial DNA can be tested as well and may prove to be more useful than autosomal to positively identify the origins of those two specific lines.

Let’s assume that John takes an autosomal test and discovers that indeed, the 3/16th Native estimate was close. 3/16th equates to about 18% Native which would mean that three of his 16 great-great-grandparents were Native.

John told us that his Grandmother Jones was supposed to be 100% Native.

At the great-great-grandparent level, John has 16 ancestors, so eight on his mother’s side, four from maternal grandmother Jones and four from his maternal grandfather Davis.

John carries the mitochondrial DNA of his mother (red boxes and arrows,) and her mother, through a direct line of females back in time. John also carries the Y-DNA of his father (dark blue box, at left above, and blue arrows below.)

Unlike autosomal DNA which is admixed in every generation, mitochondrial DNA (red arrows) is inherited from that direct matrilineal line ONLY and never combines with the DNA of the father. Mothers give their mitochondrial DNA to both sexes of their children, but men never contribute their mitochondrial DNA to offspring. Everyone has their mother’s mitochondrial DNA.

Because it never recombines with DNA from the father, so is never “watered down,” we can “see” much further back in time, even though we can’t yet identify those ancestors.

However, more importantly, in this situation, John can test his own mitochondrial DNA that he inherited from his mother, who inherited it from her mother, to view her direct matrilineal line.

John’s mitochondrial DNA haplogroup that will be assigned during testing tells us unquestionably whether or not his direct matrilineal ancestor was Native on her mother’s line, or not. If not, it may well tell us where that specific line originated.

You can view the countries around the world where Y-DNA haplogroups are found, here, and mitochondrial haplogroups, here.

If John’s mitochondrial DNA haplogroup is Native, that confirms that one specific line is Native. If he can find other testers in his various lines to test either their Y-DNA or mitochondrial DNA, John can determine if other ancestors were Native too. If not, those tests will reveal the origins of that line, separate from the rest of his genealogical lines.

Although John didn’t mention his father’s line, if he takes a Y-DNA test, especially at the Big Y-700 level, that will also reveal the origins of his direct paternal line. Y-DNA doesn’t combine with the other parent’s DNA either, so it reaches far back in time too.

Y-DNA and mitochondrial DNA tests are laser-focused on one line each, and only one line. You don’t have to try to sort it out of the ethnicity “pot,” wondering which ancestor was or was not Native.

My Recommendation

When putting together a testing strategy, I recommend taking advantage of free uploads and inexpensive unlocks when possible.

  • To confirm Native American ancestry via ethnicity testing, I recommend testing at 23andMe and uploading to FamilyTreeDNA, then purchasing the $19 unlock. The free upload and $19 unlock are less expensive than testing there directly.
  • For matching, I recommend testing at Ancestry and uploading to MyHeritage, then unlocking the MyHeritage advanced features for $29, which is less expensive than retesting. Ancestry does not provide segment information, but MyHeritage (and the others) do.

At this point, John will have taken two DNA tests, but is now in all four databases, plus GEDmatch if he uploads there.

  • For genealogy research on John’s lines to determine whether or not his mother’s lines were Native, I recommend an Ancestry and a MyHeritage records subscription, plus using WikiTree, which is free.
  • To determine if John’s mother’s direct matrilineal female line was Native, I recommend that John order the mitochondrial DNA test at FamilyTreeDNA.
  • When ordering multiple tests, or uploading at FamilyTreeDNA, be sure to upload/order all of one person’s tests on the same DNA kit so that those results can be used in combination with each other.

Both males and females can take autosomal and mitochondrial DNA tests.

  • To discover what he doesn’t know about his direct paternal, meaning John’s surname line – I recommend the Big Y-700 test at FamilyTreeDNA.

Only males can take a Y-DNA test, so women would need to ask their father, brother, or paternal uncle, for example, to test their direct paternal line.

  • If John can find a male Davis from his mother’s line, I recommend that he purchase the Big Y-700 test at FamilyTreeDNA for that person, or check to see if someone from his Davis line may have already tested by viewing the Davis DNA Project. Like with mitochondrial DNA, the Y-DNA haplogroup will tell John the origins of his direct Davis male ancestor – plus matching of course. He will be able to determine if they were Native, and if not, discover the origins of the Davis line.
  • For assigning segments to ancestors and triangulating to confirm descent from a common ancestor, I recommend 23andMe, MyHeritage, FamilyTreeDNA and GEDmatch, paired with DNAPainter as a tool.

Shopping and Research List

Here are the tests and links recommended above:

More Than He Asked

I realize this answer is way more than John expected or even knew to ask. That’s because there is often no “one” or “one best” answer. There are many ways to approach the question after the goal is defined, and the first “answer” received may be a bit out of context.

For example, let’s say John has 2% Native ancestry and took a test at a vendor who didn’t detect it. John would believe he had none. But a different vendor might find that 2%. If it’s on his mother’s direct matrilineal line, mitochondrial DNA testing will confirm, or refute Native, beyond any doubt, regardless of autosomal ethnicity results – but only for that specific ancestral line.

Autosomal DNA can suggest Native across all your DNA, but Y-DNA and mitochondrial DNA confirm it for each individual ancestor.

Even when autosomal testing does NOT show Native American, or African, for example, it’s certainly possible that it’s just too far back in time or has not been passed down during random recombination, but either Y-DNA or mitochondrial DNA will unquestionably confirm (or refute) the ancestry in question if the right person is tested.

This is exactly why I attempt to find a cousin who descends appropriately from every ancestor and provide testing scholarships. It’s important to obtain Y-DNA and mitochondrial DNA information for each ancestor.

Which Test Should I Order?

What steps will help you decide which test or tests to take?

  1. Define your testing goal.
  2. Determine if your Y-DNA or mitochondrial DNA will help answer the question.
  3. Determine if you need to find ancestors another generation or two back in time to get the most benefit from DNA testing. In our example, if John discovered that both of his grandparents were enrolled tribal members, that’s huge, and the tribe might have additional information about his family.
  4. Subscribe to Ancestry and MyHeritage records collections as appropriate to perform genealogical research. Additional information not only provides context for your family, it also provides you with the ability to confirm or better understand your ethnicity results.
  5. Extend your tree so that you can obtain the best results from the three vendors who support trees; Ancestry, FamilyTreeDNA, and MyHeritage. All three use trees combined with DNA tests to provide you with additional information.
  6. Order 23andMe and Ancestry autosomal DNA tests.
  7. Either test at or upload one of those tests to MyHeritage, FamilyTreeDNA, and GEDmatch.
  8. If a male, order the Big Y-700 DNA test. Or, find a male from your ancestral line who has taken or will take that test. I always offer a testing scholarship and, of course, share the exciting results!
  9. Order a mitochondrial DNA test for yourself and for appropriately descended family members to represent other ancestors. Remember that your father (and his siblings) all carry your paternal grandmother’s mitochondrial DNA. That’s often a good place to start after testing your own DNA.
  10. If your parents or grandparents are alive, or aunts and uncles, test their autosomal DNA too. They are (at least) one generation closer to your ancestors than you are and will carry more of your ancestors’ DNA.
  11. Your siblings will carry some of your ancestors’ DNA that you do not, so test them too if both of your parents aren’t available for testing.

Enjoy!!!

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What Is a Sibling Anyway? Full, Half, Three-Quarters, Step, Adopted, Donor-Conceived & Twins

I’ve seen the term sibling used many different ways, sometimes incorrectly.

When referring to their own siblings, people usually use the term brother or sister, regardless of whether they are talking about a full, half or step-sibling. It’s a term of heart or description. It’s often genealogists who are focused on which type of sibling. As far as I’m concerned, my brother is my brother, regardless of which type of brother. But in terms of genetics, and genealogy, there’s a huge difference. How we feel about our sibling(s) and how we are biologically related are two different things.

Let’s cover the various types of siblingship and how to determine which type is which.

  • Full Siblings – Share both parents
  • Half-Siblings – Share only one parent
  • Three-Quarter Siblings – It’s complicated
  • Adopted Siblings
  • Donor-Conceived
  • Step-Siblings – Share no biological parent
  • Twins – Fraternal and Identical

Full Siblings

Full siblings share both parents and share approximately 50% of their DNA with each other.

You can tell if you are full siblings with a match in various ways.

  1. You share the same fairly close matches on both parents’ sides. For example, aunts or uncles or their descendants.

Why do I say close matches? You could share one parent and another more distant relative on the other parent’s side. Matching with close relatives like aunts, uncles or first cousins at the appropriate level is an excellent indicator unless your parents or grandparents are available for testing. If you are comparing to grandparents, be sure to confirm matches to BOTH grandparents on each side.

  1. Full siblings will share in the ballpark of 2600 cM, according to DNAPainter’s Shared cM Tool.

Keep in mind that you can share more or less DNA, hence the range. It’s also worth noting that some people who reported themselves as full siblings in the Shared cM project were probably half siblings and didn’t realize it.

  1. Full siblings will share a significant amount of fully identical regions (FIR) of DNA with each other, meaning they share DNA at the same DNA address from both parents, as illustrated above. Shared DNA with each other inherited from Mom and Dad are blocked in green. The fully identical regions, shared with both parents, are bracketed in purple. You can’t make this determination at FamilyTreeDNA, MyHeritage or Ancestry, but you can at both 23andMe and GEDmatch.

At GEDmatch, the large fully green areas in the chromosome browser “graphics and positions” display indicates full siblings, where DNA is shared from both parents at that location.

I wrote about the details of how to view fully identical regions (FIR) versus half identical regions (HIR) in the article, DNA: In Search of…Full and Half-Siblings.

  1. If your parents/grandparents have tested, you and your full sibling will both match both parents/grandparents. Yes, I know this sounds intuitive, but sometimes it’s easy to miss the obvious.

At FamilyTreeDNA, you can use the matrix tool to see who matches each other in a group of people that you can select. In this case, both siblings are compared to the father, but if the father isn’t available, a close paternal relative could substitute. Remember that all people who are 2nd cousins or closer will match.

  1. At Ancestry, full siblings will be identified as either “brother” or “sister,” while half-siblings do not indicate siblingship. Half-siblings are called “close family” and a range of possible relationships is given. Yes, Ancestry, is looking under the hood at FIR/HIR regions. I have never seen a full sibling misidentified as anything else at Ancestry. Unfortunately, Ancestry does not give customers access to their matching chromosome segment location data.
  2. Y-DNA of males who are full siblings will match but may have some slight differences. Y-DNA alone cannot prove a specific relationship, with very rare exceptions, but can easily disprove a relationship if two males do not match. Y-DNA should be used in conjunction with autosomal DNA for specific relationship prediction when Y-DNA matches.
  3. Y-DNA testing is available only through FamilyTreeDNA, but high-level haplogroup-only estimates are available through 23andMe. Widely divergent haplogroups, such as E versus R, can be considered a confirmed non-match. Different haplogroups within the same base haplogroup, such as R, but obtained from different vendors or different testing levels may still be a match if they test at the Big Y-700 level at FamilyTreeDNA.
  4. Mitochondrial DNA, inherited matrilineally from the mother, will match for full siblings (barring unusual mutations such as heteroplasmies) but cannot be used in relationship verification other than to confirm nonmatches. For both Y-DNA and mitochondrial DNA, it’s possible to have a lineage match that is not the result of a direct parental relationship.
  5. Mitochondrial DNA testing is available only through FamilyTreeDNA, but haplogroup-only estimates are included at 23andMe. Different base haplogroups such as H and J can be considered a non-match.
  6. A difference in ethnicity is NOT a reliable indicator of half versus full siblings.

Half-Siblings

Half-siblings share only one parent, but not both, and usually share about 25% of their DNA with each other.

You will share as much DNA with a half-sibling as you do some other close matches, so it’s not always possible for DNA testing companies to determine the exact relationship.

Referencing the MyHeritage cM Explainer tool, you can see that people who share 1700 cM of DNA could be related in several ways. I wrote about using the cM Explainer tool here.

Hints that you are only half-siblings include:

  1. At testing vendors, including Ancestry, a half-sibling will not be identified as a sibling but as another type of close match.
  2. If your parents or grandparents have tested, you will only match one parent or one set of grandparents or their descendants.
  3. You will not have shared matches on one parent’s side. If you know that specific, close relatives have tested on one parent’s side, and you don’t match them, but your other family members do, that’s a very big hint. Please note that you need more than one reference point, because it’s always possible that the other person has an unknown parentage situation.
  4. At 23andMe, you will not show fully identical regions (FIR).
  5. At GEDmatch, you will show only very minimal FIR.

Scattered, very small green FIR locations are normal based on random recombination. Long runs of green indicate that significant amounts of DNA was inherited from both parents. The example above is from half-siblings.

  1. At FamilyTreeDNA and 23andMe, most men who share a mother will also share an X chromosome match since men only inherit their X chromosome from their mother. However, it is possible for the mother to give one son her entire X chromosome from her father, and give the other son her entire X chromosome from her mother. Therefore, two men who do share a mother but don’t have an X chromosome match could still be siblings. The X is not an entirely reliable relationship predictor. However, if two men share an entire X chromosome match, it’s very likely that they are siblings on their mother’s side, or that their mothers are very close relatives.

Three-Quarter Siblings

This gets a little more complicated.

Three-quarter siblings occur when one parent is the same, and the other parents are siblings to each other.

Let’s use a real-life example.

A couple marries and has children. The mother dies, and the father marries the mother’s sister and has additional children. Those children are actually less than full siblings, but more than half-siblings.

Conversely, a woman has children by two brothers and those children are three-quarter siblings.

These were common situations in earlier times when a man needed a female companion to raise children and women needed a male companion to work on the farm. Neither one could perform both childcare and the chores necessary to earn a living in an agricultural society, and your deceased spouse’s family members were already people you knew. They already loved your children too.

Neither of these situations is historically unusual, but both are very difficult to determine using genetics alone, even in the current generation.

Neither X-DNA nor mitochondrial DNA will be helpful, and Y-DNA will generally not be either.

Unfortunately, three-quarter siblings’ autosomal DNA will fall in the range of both half and full siblings, although not at the bottom of the half-sibling range, nor at the top of the full sibling range – but that leaves a lot of middle ground.

I’ve found it almost impossible to prove this scenario without prior knowledge, and equally as impossible to determine which of multiple brothers is the father unless there is a very strong half-sibling match in addition.

The DNA-Sci blog discusses this phenomenon, but I can’t utilize comparison screenshots according to their terms of service.

Clearly, what we need are more known three-quarter siblings to submit data to be studied in order to (possibly) facilitate easier determination, probably based on the percentage frequency distribution of FIR/HIR segments. Regardless, it’s never going to be 100% without secondary genealogical information.

Three-quarter siblings aren’t very common today, but they do exist. If you suspect something of this nature, really need the answer, and have exhausted all other possibilities, I recommend engaging a very experienced genetic genealogist with experience in this type of situation. However, given the random nature of recombination in humans, we may never be able to confirm using any methodology, with one possible exception.

There’s one possibility using Y-DNA if the parents in question are two brothers. If one brother has a Y-DNA SNP mutation that the other does not have, and this can be verified by testing either the brothers who are father candidates or their other known sons via the Big Y-700 test – the father of the siblings could then be identified by this SNP mutation as well. Yes, it’s a long shot.

Three-quarter sibling situations are very challenging.

Step-siblings, on the other hand, are easy.

Step-Siblings

Step-siblings don’t share either parent, so their DNA will not match to each other unless their parents are somehow related to each other. Please note that this means either of their parents, not just the parents who marry each other.

One child’s parent marries the other child’s parent, resulting in a blended family. The children then become step-siblings to each other.

The terms step-sibling and half-sibling are often used interchangeably, and they are definitely NOT the same.

Adopted Siblings

Adopted siblings may not know they are adopted and believe, until DNA testing, that they are biological siblings.

Sometimes adopted siblings are either half-siblings or are otherwise related to each other but may not be related to either of their adoptive parents. Conversely, adopted siblings, one or both, may be related to one of their adoptive parents.

The same full and half-sibling relationship genetic clues apply to adopted siblings, as well as the tools and techniques in the In Search of Unknown Family series of articles.

Donor-Conceived Siblings

Donor-conceived siblings could be:

  • Half-siblings if the donor is the same father but a different mother.
  • Half-siblings if they share an egg donor but not a father.
  • Full siblings if they are full biological siblings to each other, meaning both donors are the same but not related to the woman into whom the fertilized egg was implanted, nor to her partner, their legal parents.
  • Not biologically related to each other or either legal parent.
  • Biologically related to one or both legal parents when a family member is either an egg or sperm donor.

Did I cover all of the possible scenarios? The essence is that we literally know nothing and should assume nothing.

I have known of situations where the brother (or brothers) of the father was the sperm donor, so the resulting child or children appear to be full or three-quarters siblings to each other. They are related to their legal father who is the mother’s partner. In other words, in this situation, the mother’s husband was infertile, and his brother(s) donated sperm resulting in multiple births. The children from this family who were conceived through different brothers and had very close (half-sibling) matches to their “uncles'” children were very confused until they spoke with their parents about their DNA results.

The same techniques to ascertain relationships would be used with donor-conceived situations. Additionally, if it appears that a biological relationship exists, but it’s not a full or half-sibling relationship, I recommend utilizing other techniques described in the In Search of Unknown Family series.

Twins or Multiple Birth Siblings

Two types of twin or multiple birth scenarios exist outside of assisted fertilization.

Fraternal twins – With fraternal or dizygotic twins, two eggs are fertilized independently by separate sperm. Just view this as one pregnancy with two siblings occupying the same space for the same 9 months of gestation. Fraternal twins can be male, female or one of each sex.

Fraternal twins are simply siblings that happen to gestate together and will match in the same way that full siblings match.

Please note that it’s possible for two of a woman’s eggs to be fertilized at different times during the same ovulation cycle, potentially by different men, resulting in twins who are actually half-siblings.

A difference in ethnicity is NOT a reliable indicator of fraternal or identical twins. Submitting your own DNA twice often results in slightly different ethnicity results.

Identical twins – Identical or monozygotic twins occur when one egg is fertilized by one sperm and then divides into multiple embryos that develop into different children. Those children are genetically identical since they were both developed from the same egg and sperm.

Two of the most famous identical twins are astronauts Mark and Scott Kelly.

Identical twins are the same sex and will look the same because they have the same DNA, except for epigenetic changes, but of course external factors such as haircuts, clothes and weight can make identical twins physically distinguishable from each other.

DNA testing companies will either identify identical twins as “self,” “identical twin” or “parent/child” due to the highest possible shared cM count plus fully matching FIR regions.

For identical twins, checking the FIR versus HIR is a positive identification as indicated above at GEDmatch with completely solid green FIR regions. Do not assume twins that look alike are identical twins.

Siblings

Whoever thought there would be so many kinds of siblings!

If you observe the need to educate about either sibling terminology or DNA identification methodologies, feel free to share this article. When identifying relationships, never assume anything, and verify everything through multiple avenues.

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New: In Search of Unknown Family Resource Page

When I started the “In Search of” series, I expected it to be 4 or 5 articles for people searching for unknown family members. It’s taken on a life of its own and expanded quite a bit.

As I progressed with the series, I realized that, in some cases, foundational articles were necessary before progressing to the “how to find” articles.

I’ve also added related articles – like how to sort through unexpected close matches when you don’t recognize the match and didn’t even know they existed before they appeared on your match list.

New Permanent Resource Page

I’ve created an In Search of Unknown Family Resource Page, here, to give these articles a permanent home and make them easy to find for:

  • Adoptees
  • People who discover they don’t match their family as expected
  • People dealing with endogamy
  • People who need to determine whether a sibling is a half or full sibling
  • People seeking an unknown parent
  • People seeking unknown grandparents
  • People who receive a relatively close unknown match

I’ll be adding several more articles over the next few months, but to date, I’ve published 8 articles in the series.

In Search of…Articles

The articles are listed in order of publication. I suggest reading them in order because the information presented and skill set is cumulative and provides you with the tools to make your search experience the most productive possible.

I wrote the article, Identifying Unknown Parents and Individuals Using DNA Matching as a primer explaining the process in general. In other words, how this process works. I recommend that you read that article first, as these article focuses on each vendors, test type, tools and step-by-step instructions for specific types of relationships.

  1. I introduced the “In Search of” series in the article, DNA: In Search of…New Series Launches.
  2. In DNA: In Search of…What Do You Mean I’m Not Related to My Family? – and What Comes Next?, we discussed the discovery that something was amiss when you don’t match a family member that you expect to match, then how to make sure a vial or upload mix-up didn’t happen. Next, I covered the basics of the four kinds of DNA tests you’ll be able to use to solve your mystery.
  3. In In Search of…Vendor Features, Strengths, and Testing Strategies, we discussed testing goals and strategies, including testing with and uploading to multiple autosomal DNA vendors, Y DNA, and mitochondrial DNA We reviewed the vendor’s strengths and the benefits of combining vendor information and resources.
  4. In DNA: In Search of…Signs of Endogamy, we discussed the signs of endogamy and various ways to determine if you or your recent ancestors descend from an endogamous population.
  5. In DNA: In Search of…Full and Half-Siblings, we discussed how to determine if a sibling match is a half or full sibling.
  6. In Connect Your DNA test, and Others, to Your Tree, I explained how to optimize your DNA tests to take advantage of the features offered by each primary DNA testing vendor.
  7. In How to Share DNA Results and Tree Access at Ancestry, I wrote step-by-step instructions for providing access to another person to allow them to view your DNA results, AND to share your tree – which are two different things. If you have a mystery match, and they are willing to allow you access, in essence “to drive,” you can just send them the link to this article that provides detailed instructions. Note that Ancestry has changed the user interface slightly with the rollout of their new “sides” matches, but I can’t provide the new interface screenshots yet because my account has not been upgraded.
  8. In In Search of…How Am I Related to That Close Match, we step through the process of narrowing down the possibilities of how an unexpectedly close match is related to you – and what to do next.
  9. Not all of your ancestors contribute an X chromosome to you. In the article, X Chromosome Master Class, I’ve described how you can utilize the X chromosome when seeking to identify certain people in your tree. Conversely, an X chromosome match can effectively eliminate some relationships.
  10. Looking for close family? In Search of…Your Grandparents provides step-by-step instructions to identify missing grandparents. You can use this same technique to identify unknown parents as well.

Yet to come are articles detailing the steps to identify unknown parents and grandparents. I’ll add them to the resource page when they are published as well.

Please feel free to share the resource page link, here, or this article with anyone who is searching.

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Thank you so much.

DNA Purchases and Free Uploads

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