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

Roberta’s Books:

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Mitotree Q&A for Everyone

I recently presented Mitotree Webinar – What It Is, How We Did It, and What Mitotree Means to You at Legacy Family Tree Webinars. It’s still free to view through June 13th, and after that, it’s available in the webinar library with a subscription. The 31-page syllabus is also a subscription feature.

Thank you to all 1000+ of you who attended and everyone else who has since watched the webinar – or will now.

We had a limited amount of time for Q&A at the end, so Geoff, our host, was kind enough to send me the list of questions from the Chat, and I’m doing the Q&A here. But keep in mind, please, that I’m assuming when I answer that you’ve watched the webinar or are familiar with how the new Mitotree and tools work.

That said, I think this Q&A can help everyone who is interested in mitochondrial DNA. Your genealogy gift from your mother and her female lineage.

Just a quick reminder that the mitochondrial DNA test tracks your direct matrilineal line only, meaning your mother’s mother’s mother’s line on up your tree until you run out of mothers. Of course, our goal is always to break through that brick wall.

This is a wonderful opportunity, because, unlike autosomal DNA, mitochondrial DNA is not admixed with the DNA of the other parent, so it’s a straight line look back directly up your mother’s female line.

Aha Moment!

Geoff said at the end that he had an aha moment during the webinar. Both males and females have mitochondrial DNA inherited from their mother, so we think of testing our own – but forget to obtain the mitochondrial DNA of our father. Testing your father’s mitochondrial DNA means obtaining your paternal grandmother’s mitochondrial DNA, so test your father to learn about his mother’s maternal line.

And it’s Father’s Day shortly.

Q&A

I’ve combined and summarized similar questions to make this short and sweet. Well, as short and sweet as I can make anything!

  • Can I benefit from Discover even if I don’t have a full sequence test?

You can benefit from the free FamilyTreeDNA Discover tool with any haplogroup, even a partial haplogroup. Be sure to click the down arrow and select mtDNA before entering the haplogroup if you’re using the public version.

However, to gain the most advantage from your test results and Discover, and to receive your closest matches, you need the full sequence test, called the mtFull, which you can purchase here. If you took one of the lower-level “Plus” tests, years ago, click here to sign in and upgrade or check your account to see if you have the full sequence test.

  • What benefits do I receive if I click through to Discover from my account versus using the public version of Discover?

Click any image to enlarge

If you click through to Discover directly from your FamilyTreeDNA account, you will receive features and additional information that are not available in the free, public version of Discover.

You’ll receive additional Notable Connections and up to 30 Ancient Connections based on how many are available and relevant for you.

You’ll also be able to view the Match Time tree, showing your matches, their earliest known ancestors, and where they fit in your haplogroup and haplotype cluster. In this example, two EKAs hinted at a common lineage, which turned out to be accurate after I did some digging.

I think the Match Time Tree is indispensable – the best thing since sliced bread!

The Scientific Details report is also customized for you with your Haplotype Cluster and your private variants.

  • Will a child and their mother always have the same haplogroup?

Yes, but if one of them has a mutation that the other doesn’t, or a heteroplasmy, they may be in a different haplotype cluster.

Also, they both need to have taken the full sequence test. Otherwise, the one who did not take the full sequence test will only have a partial haplogroup until they upgrade.

We will talk more about edge cases in Q&A on down the list.

Great question. Sign in to your account.

In the Maternal Line Ancestry section, which is mitochondrial DNA, check to see if both the Plus and Full boxes are pink. If so, you have taken both and you’ll have a new Mitotree haplogroup and haplotype cluster.

If the “Full” box is grey, you can either click there or at the top where it says “Add Ons and Upgrades” to upgrade to the full sequence test.

  • Why is it called the Million Mito Project? What were you counting?

When we first launched the project, we hoped for a million full sequence samples to build the initial tree. After removing duplicates, such as parent/child, partial sequence samples such as HVR1/2, unreliable samples from PhyloTree, and including FamilyTreeDNA  testers and academic samples, we had between one-third and half a million samples when we launched. The Mitotree and Discover are growing with new testers and groups of samples from archaeological studies, academic samples, and other publicly available resources, following quality analysis, of course.

  • Is there a way to confirm that I submitted an mtDNA to the Mito Tree project? I think I submitted my mom’s when you first started, but my husband recently tested, and I don’t remember if we opted him in at that time.

The science team at FamilyTreeDNA  is using all of the full sequence tests in the construction of the Mitotree, so you don’t need to do anything special.

  • Do or can haplotype F numbers (haplotype clusters) ever become haplogroups?

The answer is maybe. (I know – I’m sorry!)

If you have private variants in addition to your haplotype cluster, then yes, those are haplogroup seeds.

This is my result and I have no additional private variants left to use.

If you don’t have any private variants, or mutations, left over, then no, you won’t receive a new haplogroup for this reason. However, if for some reason the haplogroup splits upstream, you might receive a new haplogroup in the future due to that split.

In addition to the webinar, I wrote about haplotype clusters in the article, Mitochondrial DNA: What is a Haplotype Cluster and How Do I Find and Use Mine?

  • How can mitochondrial DNA and the Mitotree be useful for breaking down genealogy in various parts of the world?

There are two aspects to mitochondrial DNA testing.

The first is to connect genealogically, if possible. To do that, you’ll be paying attention to your matches EKAs (earliest known ancestors), their trees, and their locations. You may well need to do some genealogy digging and build out some trees for others.

The second aspect is to learn more about that lineage before you can connect genealogically. Where did they come from? Do they share a haplogroup with any Ancient Connections, and what cultures do they share? Where did they come from most recently in the world, and where do the breadcrumbs back in time lead?

I wrote about this in the article, New Mitotree Haplogroups and How to Utilize Them for Genealogy.

Sometimes, DNA testing of any type is simply a waiting game until the right person tests and matches you. That’s one reason it bothers me so much to see people “not recommend” mitochondrial DNA testing. We all need more testers so we can have more matches.

  • When will Globetrekker for mtDNA be available?

I don’t know and neither does the team. The Mitotree is still being refined. For example, we are adding thousands of samples to the tree right now from multiple locations around the world. I probably wouldn’t expect Globetrekker until the tree is officially out of Beta, and no, I don’t know when that will happen either. It’s difficult to know when you’re going to be “finished” with something that has never been done before.

While it’s not Globetrekker, you do have the Matches Map to work with, and the Migration Map in Discover, which also shows the locations of your Ancient Connections.

  • During the webinar, Roberta mentioned that her ancestor is German, but she discovered her ancestors were Scandinavian. Can you expand about the “event” that explained this unexpected discovery.

In my case, the church records for the tiny village where my ancestor lived in Germany begin right after the 30 Years’ War, which was incredibly destructive. Looking at Swedish troop movements in Germany, the army of Gustavus Adolphus of Sweden marched through the region with more than 18,000 soldiers. Women accompanied the baggage trains, providing essential, supportive roles and services to the soldiers and military campaign. I’ll never know positively, of course, but given that the majority of my full sequence matches are in Scandinavia, mostly Sweden, and not in Germany, it’s a reasonable hypothesis.

People often receive surprises in their results, and the history of the region plays a big role in the stories of our ancestors.

You don’t know what you don’t know, until you test and follow the paths ahd hints revealed.

  • Why do I have fewer matches in the HVR2 region than the HVR1 region?

Think of the mitochondria as a clock face.

The older (now obsolete) HVR1 test tested about 1000 locations, from about 11-noon and the HVR2/3 region tested another 1000 locations, from about noon-1 PM. The full sequence test tests the full 16,569 locations of the entire mitochondria.

Each level has its own match threshold. So, if you have one mutation at either the HVR1 or HVR2/3 level, combined, you are not considered a match. For example, you can match 10 people at the HVR1 level, and have a mutation in the HVR2 level that 4 people don’t share, so you’ll only match 6 people at the HVR2 level.

If you have one mutation in the HVR1 region, you won’t match anyone in either the HVR1 or HVR1/HVR2 regions.

At the full sequence level, you can have three mutation differences (GD 3) and still be considered a match.

So, the short answer is that you probably have a mutation that some of your matches at the HVR2 level don’t have.

In addition to matches on your Matches page, you will (probably) have haplogroup matches that aren’t on your match list, so check Discover for those.

  • I have HVR1/HVR2 matches, but none at the full sequence level. Why?

It’s possible that none of your matches have tested at that level.

You have no mutations in the HVR1/2 region, or you would not be a match. If your HVR1/2 matches have tested at the full sequence level, then you have more than 3 mutations difference in the coding region.

  • Why do I match people at the full sequence level but not HVR1/2?

The match threshold at the HVR1/2 level is 1, so if you have one mismatch, you’re not listed as a match. However, at the full sequence level, the GD (genetic distance) is 3 mismatches. This tells me you have a mismatch in the HVR1 region, which also precludes HVR2 matching, but less than 4 mutations total. Click on the little “i” button above each match level on the matches page.

  • Why don’t all of my matches show on the Match Time Tree?

Only full sequence matches can show on the Match Time Tree, because they are the only testers who can receive a full haplogroup.

  • How does a heteroplasmy interfere with mtDNA research?

Heteroplasmies, where someone carries two different nucleotides at the same location in different mitochondrial in their body, are both extremely fascinating and equally as frustrating.

Heteroplasmies can interfere with your matching because you might have a T nucleotide in a specific location, which matches the reference model, so no mutation – like 16362T. Your mother might have a C in that location, so T16362C, which is a mutation from T to C. Your aunt or sister might have both a T and a C, which means she is shown with letter Y, so 16362Y, which means she has more than 20% of both. All three of you probably have some of each, but it’s not “counted” as a heteroplasmy unless it’s over 20%.

The challenge is how to match these people with these different values accurately, and how heteroplasmies should “count” for matching.

I wrote about this in the article What is a Heteroplasmy and Why Do I Care?

Bottom line is this – if you are “by yourself” and have no matches, or you don’t match known relatives exactly, suspect a heteroplasmy. If you ask yourself, “What the heck is going on?” – rule out a heteroplasmy. Check out my article and this heteroplasmy article in the FamilyTreeDNA help center.

  • Someone asked about the X chromosome and may have been confusing it with mitochondrial DNA. The X chromosome is not the same as mitochondrial DNA.

The confusion stems from the fact that both are associated with inheritance from the maternal line. Everyone inherits their mitochondrial DNA from their mother. Men inherit their X chromosome ONLY from their mother, because their father gives them a Y chromosome, which makes them a male. Females inherit an X chromosome from both parents. And yes, there are medical exceptions, but those are unusual.

I wrote about this in the article, X Matching and Mitochondrial DNA is Not the Same Thing.

  • How do you determine the location of the last mutation? A tester and their aunt are from one country, and another man in the same haplogroup is from another country, but he has tested only the HVR1/HVR2 level.

There are really two answers here.

First, you can’t really compare your full sequence new Mitotree haplogroup with a partial haplogroup based on only the HVR1/2 test. Chances are very good that if he upgraded to a full sequence test, he would receive a more complete haplogroup, and one that might be near the tester’s haplogroup, but perhaps not the same.

For example, my full sequence haplogroup is J1c2f. I have matches with people who only tested at the HVR1/HVR2 level, but they can only be predicted to haplogroup J, with no subgroup, because they are missing about 14,000 locations that are included in the full sequence test.

Using the Discover Compare feature, comparing haplogroup J to J1c2f clearly shows that the mutations that define haplogroup J1c2f happened long after the mutation(s) that define haplogroup J.

You can use other Discover tools such as the Match Time Tree (if you click through from your account), the Time Tree, the Ancestral Path and the Classic Tree to see when the various haplogroups were born.

  • My mother took the full sequence test in 2016, so should I look for an upgrade now? She is deceased so can’t retest.

First, I’m sorry for your loss, but so glad you have her DNA tests.

The good news is that you ordered the full sequence right away, so you don’t need to worry about an upgrade failing later. In this case, there is no upgrade because the full sequence tests all 16,569 locations.

Additionally, had you needed an upgrade, or wanted to do a Family Finder test, for example, FamilyTreeDNA stores the DNA vials for future testing, so you could potentially run additional tests.

And lastly, since we’re talking mitochondrial DNA, which you inherit from your mother with no admixture from your father, your mtDNA should match hers exactly, so you could test in proxy for her, had she not already tested.

  • Has anything changed in Native American haplogroups?

Absolutely. About 75% of testers received a new haplogroup and that includes people with Native American matrilineal ancestors.

For example, my Native ancestor was haplogroup A2f1a, formed about 50 CE and is now A2f1a4-12092, formed about 1600 CE, so has moved 2 branches down the tree and about 1500 years closer. My ancestor was born about 1683. Her descendant has 58 full sequence matches, 22 in the same haplogroup, and 16 people in their haplotype cluster.

I’m so excited about this, because it helps provide clarity about her ancestors and where they were before she entered my genealogy by marrying a French settler.

  • Are mtDNA mutations the same or similar to autosomal SNPs?

A SNP is a single nucleotide polymorphism, which means a single variation in a specific location. So yes, a mutation is a change in a nucleotide at a genetic location in Y-DNA, autosomal DNA, or mitochondrial DNA.

  • Can we filter or sort our matches by haplotype on our match page?

Not yet. Generally, your closest matches appear at or near the top of your match list. Of course, you can use the Discover Match Time Tree and you can download your matches in a CSV file. (Instructions are further down in Q&A.)

  • Is there a way to make it more obvious that the EKA should be in their matrilineal line? There are so many men as EKAs!

So frustrating. The verbiage has been changed and maybe needs to be revised again, but of course, that doesn’t help with the people who have already entered males. We know males aren’t the source of mitochondrial DNA.

When I see males listed as an EKA, I send the match a pleasant note. I’m not sure they make the connection between what they entered and what is being displayed to their matches. If they have included or linked to a tree, I tell them who, in their tree, is their mtDNA EKA.

I’ve written about how to correctly add an Earliest Known Ancestor. I’ll update that article and publish again so that you can forward those instructions to people with no EKA, or male EKAs.

  • I love learning about my ancient connections. I have a new match due to the updates, who is from a neighboring area to my great-great-great-grandmother.

I love, love, LOVE Ancient Connections. They tell me who my ancestors were before I have any prayer of identifying them individually. Then I can read up on the culture from which they sprang.

I’ve also had two situations where Ancient Connections have been exceptionally useful.

One is an exact haplogroup match to my ancestor, and the burial was in a necropolis along the Roman road about 3-4 km outside the medieval “city” where my ancestor lived.

In a second case, there were two villages in different parts of the same country, hundreds of miles apart, and one burial from about 200 years before my ancestor lived was found about 10 km from one of those villages. While this isn’t conclusive, it’s certainly evidence.

  • What does the dashed line on the Time Tree mean?

Dashed lines on the time tree can mean two things.

The red dashed line, red arrow above, is the haplogroup formation date range and correlates to the dates at the top of Time Tree, not show in this screen shot. You can also read about those dates and how they are calculated on the Scientific Details tab in Discover.

The brown dashed lines, green arrow above, connect an ancient sample to its haplogroup, but the sample date is earlier than the estimated haplogroup.

At first this doesn’t make sense, until you realize that ancient samples are sometimes carbon dated, sometimes dated by proximity to something else, and sometimes dated based on the dates of the cemetery or cultural dig location.

Archaeological samples can also be contaminated, or have poor or low coverage. In other words, at this point in time, the samples are listed, but would need to be individually reviewed before shifting the haplogroup formation date. Haplogroup formation dates are based on present day testers.

  • A cousin and I have been mtDNA tested. What might be gained by testing our other six female cousins/10 or so male cousins?

Probably not much, so here’s how I would approach this.

I would test one cousin who descends from another daughter of the EKA, if possible. This helps to sift out if a haplogroup-defining mutation has occurred.

If you or that cousin has private variants left over after their haplotype cluster is formed,  testing a second person from that line may well results in a new haplogroup formation for that branch.

I absolutely would ask every single one of those cousins to take an autosomal test, however, because you never know what tools the future will bring, and we want to leverage every single segment of DNA that our ancestors carried. Testing cousins in the only way to find those.

  • In the Mitotree, I am grouped in a haplogroup that, according to the Mitotree Match Time Tree, branched off only about 200 years ago and has four mtDNA testers in it, including me. In fact, my earliest known maternal line ancestor I found using pen-and-paper genealogy was indeed born around 230 years ago and is also the known maternal ancestor for one of these three testers – confirming the Mitotree grouping is correct. But the other two matches in this haplogroup are completely unknown to me. Unfortunately, they do not have a tree online, and they did not respond to several messages. Is there any way to find out more about them using the new Mitotree tools?

First of all, this is great news. Having said that, I share your frustration. However, you’re a genealogist. Think of yourself as a sleuth.

I’d start by emailing them, but in this case, you already have. Tell them what you know from your line and ask if their line is from the same area? End with a question for them to answer. Share tidbits from Discover – like Ancient Connections maybe. Something to peak their interest.

Next, put on your sleiuh hat. I’d google their name and email address, and check Facebook and other social media sites. I’d check to see if they match me, or any cousins who have tested, on an autosomal test. If they do match autosomally, use shared matching and the matrix tool. If they are an autosomal match, I’d also check other testing sites to see if they have a tree there.

  • One webinar attendee is haplogroup H1bb7a+151 and is frustrated because they only have eight matches and don’t understand how to leverage this.

Of course, without knowing more, I can’t speak to what they have and have not done, and I certainly understand their frustration. However, in mitochondrial and Y-DNA, you really don’t want thousands of matches. It’s not autosomal. You want close, good matches, and that’s what the Mitotree plus haplotype clusters provide.

Your personal goals also make a lot of difference.

For me, I wanted to verify what I think I know – and received a surprise. I also want to go further back if possible. Then, I want to know the culture my ancestors came from.

First, step through every single one of Discover’s 13 tools and READ EVERY PAGE – not skim. These are chapters in your free book about your ancestor.

Their haplogroup was formed about 1200, so all of those matches will be since that time. The Ancient Connections tell me it’s probably British, maybe Irish – but they will see more from their account than I can see on the public version of Discover.

The Time Tree shows me one haplotype cluster, which is where the tester’s closest matches will probably be, barring a mutation or heteroplasmy.

Looking at the matches, e-mail people, look for common locations in their trees, and see if any of them are also autosomal matches using the Advanced Matching tool.

Looking at the 10 success story examples I used, one man was able to connect 19 of his matches into three groups by doing their genealogy for them. This doesn’t work for everyone, but it will never work if we don’t make the attempt.

  • An attendee would like to search on the Earliest Known Ancestor’s (EKA’s) name field.

I would like that too. You can search on surnames, but that’s often not terribly useful for mitochondrial DNA. The Match Time Tree shows the EKA for all full sequence testers.

In the upper right hand corner of your Matches page, there’s an “Export CSV” file link. Click there to download in a spreadsheet format. The EKA is a column in that file, along with both the new Mitotree haplogroup and haplotype F number, and it’s very easy to do a sort or text search from there.

  • Several questions about why people have so many more autosomal matches than either Y-DNA or mitochondrial.

There are several considerations.

First, autosomal testing became very popular, often based on ethnicity. There are many times more autosomal testers than there are either Y or mitochondrial.

Second, if you look back just six generations, you have 64 lineages. Y-DNA and mtDNA tests one line each and you don’t have to figure out which line. It also reaches back much further in time because it’s not admixed, so nothing washes out or rolls off in each generation like with autosomal.

Third, the Y-DNA and mitochondrial DNA tests are very specific and granular.

More is not necessarily better. You’re looking for refinement – and mitochondrial is just one line. No confusion. Think how happy you’d be if your autosomal matches weren’t all jumbled together and could be placed into 64 neat little baskets. Think how much time we spend sorting them out by shared matches and other criteria. Both Y-DNA and mitochondrial is already sorted out.

I’ve broken through several brick walls with unrecombined Y-DNA and mitochondrial DNA that could never be touched with autosomal – especially older lines where autosomal DNA is either gone or negligible.

  • You mentioned a Facebook group where I can ask questions about mitochondrial DNA?

The mitochondrial DNA Facebook group is the FamilyTreeDNA mtDNA Group, here.

  • To the webinar attendee who came to see me more than 20 years ago at Farmington Hills, Michigan, at one of my first, if not the first, genetic genealogy presentation – thank you!

Thank you for attending then when I really had no idea if ANYONE would come to hear about this new DNA “thing” for genealogy. I remember how nervous I was. And thank you for sticking around, continuing to research, and saying hello now!

Closing Comment

Mitochondrial DNA testing is different than autosomal, of course. It’s often the key to those females’ lines with seemingly insurmountable brick walls.

I attempt to collect the mitochondrial DNA of every ancestor. I trace “up the tree” to find people to test who descend from those ancestors through all women to the current generation, which can be males.

To find testers, I shop:

  • Autosomal matches at FamilyTreeDNA
  • Projects at FamilyTreeDNA
  • WikiTree
  • FamilySearch
  • Ancestry DNA matches
  • Ancestry Thrulines
  • Ancestry trees
  • MyHeritage DNA matches, where ther are a lot more European testers
  • MyHeritage Theories of Family Relativity
  • MyHeritage Cousin Finder
  • Relatives at RootsTech during the month before and after RootsTech when it’s available
  • Facebook Genealogy and family groups that appear relevant

When I find an appropriately descended person, I ask if they have already taken either the Y-DNA or mitochondrial DNA test, whichever one I’m searching for at that moment. If yes, hurray and I ask if they will share at least their haplogroup. If they haven’t tested, I tell them I’m offering a testing scholarship.

I will gladly explain the results if they will share them with me. Collaboration is key and a rising tide lifts all ships.

My mantra in all of this is, “You don’t know what you don’t know, and if you don’t test, you’ll never know.” I’ve missed testing opportunities that I desperately wish I hadn’t, so test your DNA and find testers to represent your ancestors.

I hope you enjoyed the webinar. It’s not too late to watch.

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Mitochondrial DNA: What is a Haplotype Cluster and How Do I Find and Use Mine?

A new feature called Haplotype Clusters was released with the new Mitotree and mtDNA Discover.

MtDNA Discover includes a dozen new reports for EVERY haplogroup. You can use the public version of Discover with any haplogroup.

However, there are additional included features for mtFull testers, and other information provided will be much more detailed and robust because the mtFull test is much more specific than any partial haplogroup.

If you have only taken the older partial-coverage HVR1 or HVR1/HVR2 tests at FamilyTreeDNA, you can sign in and upgrade, or if you have received a partial haplogroup from another source, you can take the mtFull test at FamilyTreeDNA.

OK, I’ve Taken the mtFull Test, So How Do I Access My Discover Reports?

Sign in to your FamilyTreeDNA account, then from your mtDNA dashboard, click through to Discover to access your Discover reports.

Discover reports are in addition to the tools in the mtDNA Results and Tools section of your dashboard on FamilyTreeDNA.

Definitions

Let’s start with some basic definitions.

  • Haplotype – Your individual DNA results at specific adjacent locations that are generally inherited together.

Other people may have the same haplotype as you. If they have mutations that you don’t have, or vice versa, then you have different haplotypes. People with the same haplotypes match exactly on whatever type of DNA is being discussed, such as Y-DNA or mitochondrial DNA, with no mutations or differences. Multiple people who match exactly are considered a Haplotype Cluster.

  • Haplogroup – A group of specific mutations that identify people who share a common genetic clan. Haplogroups, based on a series of mutations, can be traced forward and backward in time.

A haplogroup is a grouping of haplotypes with the same foundation mutations. You will share those mutations with other people in your haplogroup, but you may have other, different mutations that form your haplotype.

  • Other people will have the same haplogroup as you, because a group implies two or more.
  • You may or may not share a haplotype with other people. If you share the exact same haplotype with at least one other person, the two (or more) of you form a Haplotype Cluster

What is a Haplotype Cluster?

Haplotype Clusters are new and have been added to provide additional granularity to the new Mitotree, making results more genealogically useful.

In addition to your mitochondrial DNA haplogroup, you may also have a Haplotype Cluster if you took a full sequence mitochondrial DNA test, called the mtFull.

A mitochondrial DNA haplogroup, such as J1c2f for example, means that everyone within that haplogroup has the same foundation grouping of mutations. You may have additional mutations, or even some missing mutations, based on the older Phylotree Build 17, which was last updated in 2016.

Click to enlarge any image

To see your Extra and Missing Mutations in the Classic, or Phylotree build, on the FamilyTreeDNA mtDNA dashboard, click on “See More,” then on Mutations.

In the recently released Mitotree, which reconstructs the tree of humanity with more than 35,000 new branches, or haplogroups, many of those “extra” or “missing” mutations have been used in the definition of new haplogroups.

At FamilyTreeDNA, on your matches page, you’ll see your matches, like always. Matching has not changed.

You’ll notice that some are exact matches, and some may be “1 step” or more distant. That means they have one qualifying genetic mutation difference from you.

Some mutations have always been excluded from matching because they are unreliable. In my case, location 315.1C is one of those. You can read more about matching here. Matching has NOT been rerun with the release of the new Mitotree, but may be in the future.

The new Haplotype Clusters designate other people who you literally match exactly, with no differences – and no excluded marker locations.

So, let’s compare how I match people and what it means:

  • Haplogroup match – I match these people at the haplogroup level, which can reach back hundreds or even thousands of years ago. In addition, I may match them on both other relevant, reliable mutations, and/or unreliable mutations. On the current matching page, the mtDNA Haplogroup is the PhyloTree Build 17 haplogroup. Before Mitotree, matches to any other haplogroup were not displayed. Now, new haplogroups of my J1c2f matches, if they received a new haplogroup, are shown in the Mitotree Haplogroup column. My common ancestor with a match can have occurred anytime between when the haplogroup was formed and today.

Some people receive partial haplogroup level matches from other testing companies that also don’t include matching. A haplogroup match alone isn’t particularly useful except when it can eliminate a connection.

That’s why we need matching on the Matches page.

  • FamilyTreeDNA Matches Page Match – On the Matches page, I match these people at the haplogroup level as calculated based on Phylotree Build 17, as shown in the mtDNA Haplogroup Column at the Genetic Distance displayed. This means that I match them on the haplogroup markers PLUS possibly other markers.

My first match with Per, above, is listed as an exact match. Before Haplotype Clusters were introduced, I had no way of knowing if I matched him on all of my mutation locations, or just the ones that are NOT excluded from matching. But now I do.

My Haplotype Cluster number is F1752176. I know this because the little circle is checked and blue – meaning this person and I share both a haplogroup in the new Mitotree, and a Haplotype Cluster.

Ronald, above, is a match with a “1 step” Genetic Difference. I know for sure that I match him on the haplogroup markers. I also know that we don’t match on one non-excluded marker – but I have no idea which one. We may also match, or not, on some of the excluded markers. But we are not members of the same Haplotype Cluster. The blue circle is not checked.

You cannot be a member of more than one Haplotype Cluster, because everyone in a Haplotype Cluster must match exactly.

  • Haplotype Cluster – A Haplotype Cluster, if you have one, is a random F number assigned to people whose mitochondrial DNA matches exactly – and by exactly, I mean without excluding unstable or unreliable mutations.

You can see my Haplotype Cluster number, above, in the Mitotree Haplogroup column, in addition to my new Mitotree haplogroup – which is still J1c2f and did not change from the earlier version. In Mitotree, some people will receive new haplogroups, and some will not – based on your and other people’s mutations.

My match with Ronald is one step difference. Our haplogroup is the same, so that circle is checked, but Ronald belongs to a different Haplotype Cluster, so that circle is not checked, and he has a different F number. I can’t see his mutations that are different from mine, but I know he matches everyone else in his Haplotype Cluster exactly.

Let’s look at another example.

Click on any image to enlarge

Looking at my match list, I can see that beneath my matches’ haplogroup, which is the same as mine, F1752176 is checked and the checked circle is blue, which means that I share that Haplotype Cluster with those people. Everyone in that cluster has all of the same mutations in addition to the haplogroup-defining mutations, which is why both the haplogroup and haplotype circles are checked. I match both.

If I look at my Matches page, or the mtDNA Discover Time Tree, or Matches Time Tree, I can see that I have many exact haplotype matches, which means:

  • We all share haplogroup-defining mutations and
  • We match exactly on all other mutations as well

Before Haplotype Clusters were introduced, I had no way of knowing which of these people I matched exactly if no mutations were excluded.

To summarize, a Haplotype Cluster is a group of people who all match each other exactly within a haplogroup. People in Haplotype Clusters always match exactly, which INCLUDES mutations that are EXCLUDED from haplogroup formation and matching.

If you don’t match someone exactly, you’re not in the same Haplotype Cluster. You can either be in a different cluster, or no cluster at all if no one matches you exactly.

Everyone has a Haplotyupe Cluster number, but you will only be a member of a Haplotype Cluster if you have an exact match to at least one other person.

Don’t Ignore Other Clusters

The F number itself isn’t important. What is important is that Haplotype Clusters serve to focus your genealogy on that cluster first. However, understand that because the Haplotype Cluster does include unreliable or fast-mutating markers, it’s possible for you to share a more recent ancestor with people in a different cluster. It depends on the marker and the mutation, so don’t discount that possibility.

Who Can See Haplotype Cluster Mutations?

The only people who know the exact mutations of the people in a specific Haplotype Cluster are the members of that cluster – because they all match exactly.

If you scroll down your match list, you’ll notice that people, like Anastasia, who have a genetic distance of 1 step or greater have a different F Haplotype Cluster number, which is expected.

You may also notice that someone who is an “exact match” with you on the match list is assigned to a different Haplotype Cluster, such as Rose and Per. Rose is not in my Haplotype Cluster, but Per is, even though they are both “exact matches.”

Remember, “matching exactly” on the match list excludes unreliable mutation locations. Haplotype Clusters always match exactly and include all mutations. So, this tells me that I match Per on all mutation locations, regardless of their stability, and I match Rose on all stable locations, and we mismatch on at least one location that was excluded from matching.

However, the only people who know the exactly mutations of any other person are me and Per, because we both share a Haplotype Cluster. People in other clusters, or without a cluster, don’t know and can’t identify the mutations in clusters not their own.

  • The only thing I can tell about my match with Rose is that we don’t share one of the unreliable markers, because we are an “exact match” on the match list which excludes unstable markers. I have no idea whether I carry that unstable marker, or she does, or which marker it is.
  • The only thing I can tell about my match with Anastasia is that we don’t share at least one stable marker, because we are a “1-step” genetic distance, and we could also not share some of the unstable markers. I have no way of identifying those markers.
  • I know that I match Per exactly on all markers, including unstable or unreliable markers.

Included Versus Excluded Markers

Sometimes people who are listed as exact matches on your Matches page are assigned to different Haplotype Clusters. This is because mutations such as 309 and several others are included in Haplotype Clusters, but excluded from matching and haplogroup formation. The reason they are excluded is because they are sometimes unreliable – but they may be useful to your research. They aren’t always unreliable, but it varies on a case-by-case basis, including when the mutation occurred.

Location Haplogroup Formation Matching on Matches Page Haplotype Cluster
309 Excluded Excluded Included

Here’s an example using location 309. While some locations are excluded from matching, their inclusion in the formation of Haplotype Clusters may be very genealogically relevant to you – or perhaps not. That’s where genealogy research becomes important.

Haplotype Clusters give you the ability to focus your research on a specific group of people that you know do, in fact, match you exactly. Just keep in mind that some people in a different Haplotype Cluster, that don’t have a mutation at 309, for example, could have a closer common ancestor. That’s the nature of 309, 315 and other unstable SNPs, especially heteroplasmies, which tend to “come and go,” which I wrote about here. In other words, don’t ignore other Haplotype Clusters that appear on your match list – just begin with your own and evaluate using genealogy..

The Haplotype Cluster number itself isn’t important. What is important is that they serve to focus your genealogy efforts.

Where Else Can I Find My Haplotype Cluster

You can identify your Haplotype Cluster number by looking at your match list, as we have discussed, or by navigating to the Variants tab on the Scientific Details page.

On the variants tab, your haplogroup is marked with the solid red square, along with other information which I have truncated here.

Immediately above your haplogroup, you’ll see your Haplotype Cluster number, if you have one, along with any remaining private variants, aka mutations, that are haplogroup seeds and qualify to potentially become part of a haplogroup in the future.

In my case, this tells me that either all of my mutations are now included in a haplogroup definition, or they are excluded due to their instability or unreliability. Everyone else in this Haplotype Cluster is in exactly the same situation.

The only person who can see your Haplotype Cluster in Discover is you, if you are signed in to FamilyTreeDNA and you toggle “Show Private Variants” to “on.”

Haplotype Clusters as a Subset of Haplogroups

Haplogroups can and do have mutations “beneath” them, meaning haplogroup members may have different mutations or variants, in addition to the mutations used to form the haplogroup. Think of them as twigs or leaves on the tree.

Using the Classic Mitotree view in mtDNA Discover, you’ll notice that haplogroup J1c2f contains six Haplotype Clusters.

Please note that one of these clusters could be people who match the haplogroup definition exactly, and have no additional mutations of any type. They would form their own cluster.

Additionally, above the clusters, there are individual branches listed that don’t (yet) form clusters. You don’t know from looking at the individuals listed by country, such as Sweden, Germany, Norway, and so forth, if these people have only the exact mutations in haplogroup J1c2f, or if they have additional mutations that are unique and no one else has those exact mutations. What you do know is that so far, no one else matches them exactly, but as other people test, they may develop into a HaploType Cluster.

You may not match all of the people in your haplogroup on your matches page, because they may be over the match threshold and have too many mutations difference from you.

Some testers with unique, stable mutations may form new haplogroups as additional people test.

Using the Time Tree, you can see that there are currently 33 people who are in haplogroup J1c2f but do not match anyone else exactly.

The Discover Time Tree

Now that we’ve looked at examples individually, I took a screenshot of my entire haplogroup on the mtDNA Discover Time Tree to get the big picture.

The Time Tree offers a nice visual summary of all of J1c2f, including my full sequence matches, all in one place, along with Haplotype Clusters.

My haplogroup is shown in the black circle, and downstream haplogroups are shown in red circles.

You can see my Haplotype Cluster, which I can identify by the F#. You can see other Haplotype Clusters within my haplogroup, along with some individuals who don’t have any exact matches, who are shown alone on their line.

The Match Time Tree

When you click on Discover Haplogroup Reports from your dashboard, then on the Match Time Tree, you’ll see your matches’ names on your personal Time Tree, along with their self-reported earliest known matrilineal ancestors, in addition to their ancestor’s country of origin.

Here’s an example of a portion of my Match Time Tree with my matches’ names redacted.

With these new Discover and Mitotree tools, you know where to focus your research most closely. Which matches’ trees to view or build out to identify common ancestors, and who to prioritize for communications.

If you have a new haplogroup – that’s wonderful, but you don’t need one to make headway. The clue you need may well be found in your Haplotype Cluster.

There’s so much new information available for you. What can you discover?

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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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DNA: In Search of…Full and Half-Siblings

This is the fifth article in our series of articles about searching for unknown close family members, specifically; parents, grandparents, or siblings. However, these same techniques can be applied by genealogists to identify ancestors further back in time as well.

Please note that if a family member has tested and you do NOT see their results, ask them to verify that they have chosen to allow matching and for other people to view them in their match list. That process varies at different vendors.

You can also ask if they can see you in their results.

All Parties Need to Test

Searching for unknown siblings isn’t exactly searching, because to find them, they, themselves, or their descendant(s) must have taken a DNA test at the same vendor where you tested or uploaded a DNA file.

You may know through any variety of methods that they exist, or might exist, but if they don’t take a DNA test, you can’t find them using DNA. This might sound obvious, but I see people commenting and not realizing that the other sibling(s) must test too – and they may not have.

My first questions when someone comments in this vein are:

  1. Whether or not they are positive their sibling actually tested, meaning actually sent the test in to the vendor, and it was received by the testing company. You’d be surprised how many tests are living in permanent residence on someone’s countertop until it gets pushed into the drawer and forgotten about.
  2. If the person has confirmed that their sibling has results posted. They may have returned their test, but the results aren’t ready yet or there was a problem.
  3. AND that both people have authorized matching and sharing of results. Don’t hesitate to reach out to your vendor’s customer care if you need help with this.

Sibling Scenarios

The most common sibling scenarios are when one of two things happens:

  • A known sibling tests, only to discover that they don’t match you in the full sibling range, or not at all, when you expected they would
  • You discover a surprise match in the full or half-sibling range

Let’s talk about these scenarios and how to determine:

  • If someone is a sibling
  • If they are a full or half-sibling
  • If a half-sibling, if they descend from your mother or father

As with everything else genetic, we’ll be gathering and analyzing different pieces of evidence along the way.

Full and Half-Siblings

Just to make sure we are all on the same page:

  • A full sibling is someone who shares both parents with you.
  • A half-sibling is someone who shares one parent with you, but not the other parent.
  • A step-sibling is someone who shares no biological parents with you. This situation occurs when your parent marries their parent, after you are both born, and their parent becomes your step-parent. You share neither of your biological parents with a step-sibling, so you share no DNA and will not show up on each other’s match lists.
  • A three-quarters sibling is someone with whom you share one parent, but two siblings are the other parent. For example, you share the same mother, but one brother fathered you, and your father’s brother fathered your sibling. Yes, this can get very messy and is almost impossible for a non-professional to sort through, if even then. (This is not a solicitation. I do not take private clients.) We will not be addressing this situation specifically.

Caution

With any search for unknown relatives, you have no way of knowing what you will find.

In one’s mind, there are happy reunions, but you may experience something entirely different. Humans are human. Their stories are not always happy or rosy. They may have made mistakes they regret. Or they may have no regrets about anything.

Your sibling may not know about you or the situation under which you, or they, were born. Some women were victims of assault and violence, which is both humiliating and embarrassing. I wrote about difficult situations, here.

Your sibling or close family member may not be receptive to either you, your message, or even your existence. Just be prepared, because the seeking journey may not be pain-free for you or others, and may not culminate with or include happy reunions.

On the other hand, it may.

Please step back and ponder a bit about the journey you are about to undertake and the possible people that may be affected, and how. This box, once opened, cannot be closed again. Be sure you are prepared.

On the other hand, sometimes that box lid pops off, and the information simply falls in your lap one day when you open your match list, and you find yourself sitting there, in shock, staring at a match, trying to figure out what it all means.

Congratulations, You Have a Sibling!

This might not be exactly what runs through your mind when you see that you have a very close match that you weren’t expecting.

The first two things I recommend when making this sort of discovery, after a few deep breaths, a walk, and a cup of tea, are:

  • Viewing what the vendor says
  • Using the DNAPainter Shared cM Relationship Chart

Let’s start with DNAPainter.

DNAPainter

DNAPainter provides a relationship chart, here, based on the values from the Shared cM Project.

You can either enter a cM amount or a percentage of shared DNA. I prefer the cM amount, but it doesn’t really matter.

I’ll enter 2241 cM from a known half-sibling match. To enter a percent, click on the green “enter %.”

As you can see, statistically speaking, this person is slightly more likely to be a half-sibling than they are to be a full sibling. In reality, they could be either.

Looking at the chart below, DNAPainter highlights the possible relationships from the perspective of “Self.”

The average of all the self-reported relationships is shown, on top, so 2613 for a full sibling. The range is shown below, so 1613-3488 for a full sibling.

In this case, there are several possibilities for two people who share 2241 cM of DNA.

I happen to know that these two people are half-siblings, but if I didn’t, it would be impossible to tell from this information alone.

The cM range for full siblings is 1613-3488, and the cM range for half-siblings is 1160-2436.

  • The lower part of the matching range, from 1160-1613 cM is only found in half-siblings.
  • The portion of the range from 1613-2436 cM can be either half or full siblings.
  • The upper part of the range, from 2436-3488 cM is only found in full siblings.

If your results fall into the center portion of the range, you’re going to need to utilize other tools. Fortunately, we have several.

If you’ve discovered something unexpected, you’ll want to verify using these tools, regardless. Use every tool available. Ranges are not foolproof, and the upper and lower 10% of the responses were removed as outliers. You can read more about the shared cM Project, here and here.

Furthermore, people may be reporting some half-sibling relationships as full sibling relationships, because they don’t expect to be half-siblings, so the ranges may be somewhat “off.”

Relationship Probability Calculator

Third-party matching database, GEDmatch, provides a Relationship Probability Calculator tool that is based on statistical probability methods without compiled user input. Both tools are free, and while I haven’t compared every value, both seem to be reasonably accurate, although they do vary somewhat, especially at the outer ends of the ranges.

When dealing with sibling matches, if you are in all four databases, GEDmatch is a secondary resource, but I will include GEDmatch when they have a unique tool as well as in the summary table. Some of your matches may be willing to upload to GEDmatch if the vendor where you match doesn’t provide everything you need and GEDmatch has a supplemental offering.

Next, let’s look at what the vendors say about sibling matches.

Vendors

Each of the major vendors reports sibling relationships in a slightly different way.

Sibling Matches at Ancestry

Ancestry reports sibling relationships as Sister or Brother, but they don’t say half or full.

If you click on the cM portion of the link, you’ll see additional detail, below

Ancestry tells you that the possible relationships are 100% “Sibling.” The only way to discern the difference between full and half is by what’s next.

If the ONLY relationship shown is Sibling at 100%, that can be interpreted to mean this person is a full sibling, and that a half-sibling or other relationship is NOT a possibility.

Ancestry never stipulates full or half.

The following relationship is a half-sibling at Ancestry.

Ancestry identifies that possible range of relationships as “Close Family to First Cousin” because of the overlaps we saw in the DNAPainter chart.

Clicking through shows that there is a range of possible relationships, and Ancestry is 100% sure the relationship is one of those.

DNAPainter agrees with Ancestry except includes the full-sibling relationship as a possibility for 1826 cM.

Sibling Matches at 23andMe

23andMe does identify full versus half-siblings.

DNAPainter disagrees with 23andMe and claims that anyone who shares 46.2% of their DNA is a parent/child.

However, look at the fine print. 23andMe counts differently than any of the other vendors, and DNAPainter relies on the Shared cM Project, which relies on testers entering known relationship matching information. Therefore, at any other vendor, DNAPainter is probably exactly right.

Before we understand how 23andMe counts, we need to understand about half versus fully identical segments.

To determine half or full siblings, 23andMe compares two things:

  1. The amount of shared matching DNA between two people
  2. Fully Identical Regions (FIR) of DNA compared to Half Identical Regions (HIR) of DNA to determine if any of your DNA is fully identical, meaning some pieces of you and your sibling’s DNA is exactly the same on both your maternal and paternal chromosomes.

Here’s an example on any chromosome – I’ve randomly selected chromosome 12. Which chromosome doesn’t matter, except for the X, which is different.

Your match isn’t broken out by maternal and paternal sides. You would simply see, on the chromosome browser, that you and your sibling match at these locations, above.

In reality, though, you have two copies of each chromosome, one from Mom and one from Dad, and so does your sibling.

In this example, Mom’s chromosome is visualized on top, and Dad’s is on the bottom, below, but as a tester, you don’t know that. All you know is that you match your sibling on all of those blue areas, above.

However, what’s actually happening in this example is that you are matching your sibling on parts of your mother’s chromosome and parts of your father’s chromosome, shown above as green areas

23andMe looks at both copies of your chromosome, the one you inherited from Mom, on top, and Dad, on the bottom, to see if you match your sibling on BOTH your mother’s and your father’s chromosomes in that location.

I’ve boxed the green matching areas in purple where you match your sibling fully, on both parents’ chromosomes.

If you and your sibling share both parents, you will share significant amounts of the same DNA on both copies of the same chromosomes, meaning maternal and paternal. In other words, full siblings share some purple fully identical regions (FIR) of DNA with each other, while half-siblings do not (unless they are also otherwise related) because half-siblings only share one parent with each other. Their DNA can’t be fully identical because they have a different parent that contributed the other copy of their chromosome.

Total Shared DNA Fully Identical DNA from Both Parents
Full Siblings ~50% ~25%
Half Siblings ~25% 0
  • Full siblings are expected to share about 50% of the same DNA. In other words, their DNA will match at that location. That’s all the green boxed locations, above.
  • Full siblings are expected to share about 25% of the same DNA from BOTH parents at the same location on BOTH copies of their chromosomes. These are fully identical regions and are boxed in purple, above.

You’ll find fully identical segments about 25% of the time in full siblings, but you won’t find fully identical segments in half-siblings. Please note that there are exceptions for ¾ siblings and endogamous populations.

You can view each match at 23andMe to see if you have any completely identical regions, shown in dark purple in the top comparison of full siblings. Half siblings are shown in the second example, with less total matching DNA and no FIR or completely identical regions.

Please note that your matching amount of DNA will probably be higher at 23andMe than at other companies because:

  • 23andMe includes the X chromosome in the match totals
  • 23andMe counts fully identical matching regions twice. For full siblings, that’s an additional 25%

Therefore, a full sibling with an X match will have a higher total cM at 23andMe than the same siblings elsewhere because not only is the X added into the total, the FIR match region is added a second time too.

Fully Identical Regions (FIR) and Half Identical Regions (HIR) at GEDmatch

At GEDMatch, you can compare two people to each other, with an option to display the matching information and a painted graphic for each chromosome that includes FIR and HIR.

If you need to know if you and a match share fully identical regions and you haven’t tested at 23andMe, you can both upload your DNA data file to GEDmatch and use their One to One Autosomal DNA Comparison.

On the following page, simply enter both kit numbers and accept the defaults, making sure you have selected one of the graphics options.

While GEDmatch doesn’t specifically tell you whether someone is a full or half sibling, you can garner additional information about the relationship based on the graphic at GEDmatch.

GEDMatch shows both half and fully identical regions.

The above match is between two full siblings using a 7 cM threshold. The blue on the bottom bar indicates a match of 7 cM or larger. Black means no match.

The green regions in the top bar indicate places where these two people carry the same DNA on both copies of their chromosome 1. This means that both people inherited the same DNA from BOTH parents on the green segments.

In the yellow regions, the siblings inherited the same DNA from ONE parent, but different DNA in that region from the other parent. They do match each other, just on one of their chromosomes, not both.

Without a tool like this to differentiate between HIR and FIR, you can’t tell if you’re matching someone on one copy of your chromosome, or on both copies.

In the areas marked with red on top, which corresponds to the black on the bottom band, these two siblings don’t match each other because they inherited different DNA from both parents in that region. The yellow in that region is too scattered to be significant.

Full siblings generally share a significant amount of FIR, or fully identical regions of DNA – about 25%.

Half siblings will share NO significant amount of FIR, although some will be FIR on very small, scattered green segments simply by chance, as you can see in the example, below.

This half-sibling match shares no segments large enough to be a match (7 cM) in the black section. In the blue matching section, only a few small green fragments of DNA match fully, which, based on the rest of that matching segment, must be identical by chance or misreads. There are no significant contiguous segments of fully identical DNA.

When dealing with full or half-siblings, you’re not interested in small, scattered segments of fully identical regions, like those green snippets on chromosome 6, but in large contiguous sections of matching DNA like the chromosome 1 example.

GEDmatch can help when you match when a vendor does not provide FIR/HIR information, and you need additional assistance.

Next, let’s look at full and half-siblings at FamilyTreeDNA

Sibling Matches at FamilyTreeDNA

FamilyTreeDNA does identify full siblings.

Relationships other than full siblings are indicated by a range. The two individuals below are both half-sibling matches to the tester.

The full range when mousing over the relationship ranges is shown below.

DNAPainter agrees except also gives full siblings as an option for the two half-siblings.

FamilyTreeDNA also tells you if you have an X match and the size of your X match.

We will talk about X matching in a minute, which, when dealing with sibling identification, can turn out to be very important.

Sibling Matches at MyHeritage

MyHeritage indicates brother or sister for full siblings

MyHeritage provides other “Estimated relationships” for matches too small to be full siblings.

DNAPainter’s chart agrees with this classification, except adds additional relationship possibilities.

Be sure to review all of the information provided by each vendor for close relationships.

View Close Known Relationships

The next easiest step to take is to compare your full or half-sibling match to known close family members from your maternal and paternal sides, respectively. The closer the family members, the better.

It’s often not possible to determine if someone is a half sibling or a full sibling by centiMorgans (cMs) alone, especially if you’re searching for unknown family members.

Let’s start with the simplest situation first.

Let’s say both of your parents have tested, and of course, you match both of them as parents.

Your new “very close match” is in the sibling range.

The first thing to do at each vendor is to utilize that vendor’s shared matches tool and see whether your new match matches one parent, or both.

Here’s an example.

Close Relationships at FamilyTreeDNA

This person has a full sibling match, but let’s say they don’t know who this is and wants to see if their new sibling matches one or both of their parents.

Select the match by checking the box to the left of the match name, then click on the little two-person icon at far right, which shows “In Common” matches

You can see on the resulting shared match list that both of the tester’s parents are shown on the shared match list.

Now let’s make this a little more difficult.

No Parents, No Problem

Let’s say neither of your parents has tested.

If you know who your family is and can identify your matches, you can see if the sibling you match matches other close relatives on both or either side of your family.

You’ll want to view shared matches with your closest known match on both sides of your tree, beginning with the closest first. Aunts, uncles, first cousins, etc.

You will match all of your family members through second cousins, and 90% of your third cousins. You can view additional relationship percentages in the article, How Much of Them is in You?.

I recommend, for this matching purpose, to utilize 2nd cousins and closer. That way you know for sure if you don’t share them as a match with your sibling, it’s because the sibling is not related on that side of the family, not because they simply don’t share any DNA due to their distance.

In this example, you have three sibling matches. Based on your and their matches to the same known first and second cousins, you can see that:

  • Sibling 1 is your full sibling, because you both match the same maternal and paternal first and second cousins
  • Sibling 2 is your paternal half-sibling because you both match paternal second cousins and closer, but not maternal cousins.
  • Sibling 3 is your maternal half-sibling because you both match maternal second cousins and closer, but not paternal cousins.

Close Relationships at Ancestry

Neither of my parents have tested, but my first cousin on my mother’s side has. Let’s say I have a suspected sibling or half-sibling match, so I click on the match’s name, then on Shared Matches.

Sure enough, my new match also matches my first cousin that I’ve labeled as “on my mother’s side.”

If my new match in the sibling range also matches my second cousins or closer on my father’s side, the new match is a full sibling, not a half-sibling.

Close Relationships at MyHeritage

Comparing my closest match provided a real surprise. I wonder if I’ve found a half-sibling to my mother.

Now, THIS is interesting.

Hmmm. More research is needed, beginning with the age of my match. MyHeritage provides ages if the MyHeritage member authorizes that information to be shared.

Close Relationships at 23andMe

Under DNA Relatives, click on your suspected sibling match, then scroll down and select “Find Relatives in Common.”

The Relatives in Common list shows people that match both of you.

The first common match is very close and a similar relationship to my closest match on my father’s side. This would be expected of a sibling. I have no common matches with this match to anyone on my mother’s side, so they are only related on my father’s side. Therefore they are a paternal half-sibling, not a full sibling.

More Tools Are Available

Hopefully, by now, you’ve been able to determine if your mystery match is a sibling, and if so, if they are a half or full sibling, and through which parent.

We have some additional tools that are relevant and can be very informative in some circumstances. I suggest utilizing these tools, even if you think you know the answer.

In this type of situation, there’s no such thing as too much information.

X Matching

X matching, or lack thereof, may help you determine how you are related to someone.

There are two types of autosomal DNA. The X chromosome versus chromosomes 1-22. The X chromosome (number 23) has a unique inheritance path that distinguishes it from your other chromosomes.

The X chromosome inheritance path also differs between men and women.

Here’s my pedigree chart in fan form, highlighting the ancestors who may have contributed a portion of their X chromosome to me. In the closest generation, this shows that I inherited an X chromosome from both of my parents, and who in each of their lines could have contributed an X to them.

The white or uncolored positions, meaning ancestors, cannot contribute any portion of an X chromosome to me based on how the X chromosome is inherited.

You’ll notice that my father inherited none of his X chromosome from any of his paternal ancestors, so of course, I can’t inherit what he didn’t inherit. There are a very limited number of ancestors on my father’s side whom I can inherit any portion of an X chromosome from.

Men receive their Y chromosome from their fathers, so men ONLY receive an X chromosome from their mother.

Therefore, men MUST pass their mother’s X chromosome on to their female offspring because they don’t have any other copy of the X chromosome to pass on.

Men pass no X chromosome to sons.

We don’t need to worry about a full fan chart when dealing with siblings and half-siblings.

We only need to be concerned with the testers plus one generation (parents) when utilizing the X chromosome in sibling situations.

These two female Disney Princesses, above, are full siblings, and both inherited an X chromosome from BOTH their mother and father. However, their father only has one X (red) chromosome to give them, so the two females MUST match on the entire red X chromosome from their father.

Their mother has two X chromosomes, green and black, to contribute – one from each of her parents.

The full siblings, Melody, and Cinderella:

  • May have inherited some portion of the same green and black X chromosomes from their mother, so they are partial matches on their mother’s X chromosome.
  • May have inherited the exact same full X chromosome from their mother (both inherited the entire green or both inherited the entire black), so they match fully on their mother’s X chromosome.
  • May have inherited the opposite X from different maternal grandparents. One inherited the entire green X and one inherited the entire black X, so they don’t match on their mother’s X chromosome.

Now, let’s look at Cinderella, who matches Henry.

This female and male full sibling match can’t share an X chromosome on the father’s side, because the male’s father doesn’t contribute an X chromosome to him. The son, Henry, inherited a Y chromosome instead from his father, which is what made them males.

Therefore, if a male and female match on the X chromosome, it MUST be through HIS mother, but could be through either of her parents. In a sibling situation, an X match between a male and female always indicates the mother.

In the example above, the two people share both of their mother’s X chromosomes, so are definitely (at least) maternally related. They could be full siblings, but we can’t determine that by the X chromosome in this situation, with males.

However, if the male matches the female on HER father’s X chromosome, there a different message, example below.

You can see that the male is related to the female on her father’s side, where she inherited the entire magenta X chromosome. The male inherited a portion of the magenta X chromosome from his mother, so these two people do have an X match. However, he matches on his mother’s side, and she matches on her father’s side, so that’s clearly not the same parent.

  • These people CAN NOT be full siblings because they don’t match on HER mother’s side too, which would also be his mother’s side if they were full siblings.
  • They cannot be maternal half-siblings because their X DNA only matches on her father’s side, but they wouldn’t know that unless she knew which side was which based on share matches.
  • They cannot be paternal half-siblings because he does not have an X chromosome from his father.

They could, however, be uncle/aunt-niece/nephew or first cousins on his mother’s side and her father’s side. (Yes, you’re definitely going to have to read this again if you ever need male-female X matching.)

Now, let’s look at X chromosome matching between two males. It’s a lot less complicated and much more succinct.

Neither male has inherited an X chromosome from their father, so if two males DO match on the X, it MUST be through their mother. In terms of siblings, this would mean they share the same mother.

However, there is one slight twist. In the above example, you can see that the men inherited a different proportion of the green and black X chromosomes from their common mother. However, it is possible that the mother could contribute her entire green X chromosome to one son, Justin in this example, and her entire black X chromosome to Henry.

Therefore, even though Henry and Justin DO share a mother, their X chromosome would NOT match in this scenario. This is rare but does occasionally happen.

Based on the above examples, the X chromosome may be relevant in the identification of full or half siblings based on the sexes of the two people who otherwise match at a level indicating a full or half-sibling relationship.

Here’s a summary chart for sibling X matching.

X Match Female Male
Female Will match on shared father’s full X chromosome, mother’s X is the same rules as chromosomes 1-22 Match through male’s mother, but either of female’s parents. If the X match is not through the female’s mother, they are not full siblings nor maternal half-siblings. They cannot have an X match through the male’s father. They are either full or half-siblings through their mother if they match on both of their mother’s side. If they match on his mother’s side, and her father’s side, they are not siblings but could be otherwise closely related.
Male Match through male’s mother, but either of female’s parents. If the X match is not through the female’s mother, they are not full siblings nor maternal half-siblings. They cannot have an X match through the male’s father. They are either full or half-siblings through their mother if they match on both or their mother’s side. If they match on his mother’s side, and her father’s side, they are not siblings but could be otherwise closely related. Both males are related on their mother’s side – either full or half-siblings.

Here’s the information presented in a different way.

DOES match X summary:

  • If a male DOES match a female on the X, he IS related to her through HIS mother’s side, but could match her on her mother or father’s side. If their match is not through her mother, then they are not full siblings nor maternal half-siblings. They cannot match through his father, so they cannot be paternal half-siblings.
  • If a female DOES match a female on the X, they could be related on either side and could be full or half-siblings.
  • If a male DOES match a male on the X, they ARE both related through their mother. They may also be related on their father’s side, but the X does not inform us of that.

Does NOT match X summary:

  • If a male does NOT match a female on the X, they are NOT related through HIS mother and are neither full siblings nor maternal half-siblings. Since a male does not have an X chromosome from his father, they cannot be paternal half-siblings based on an X match.
  • If a male does NOT match a male, they do NOT share a mother.
  • If a female does NOT match another female on the X, they are NOT full siblings and are NOT half-siblings on their paternal side. Their father only has one X chromosome, and he would have given the same X to both daughters.

Of the four autosomal vendors, only 23andMe and FamilyTreeDNA report X chromosome results and matching, although the other two vendors, MyHeritage and Ancestry, include the X in their DNA download file so you can find X matches with those files at either FamilyTreeDNA or GEDMatch if your match has or will upload their file to either of those vendors. I wrote step-by-step detailed download/upload instructions, here.

X Matching at FamilyTreeDNA

In this example from FamilyTreeDNA, the female tester has discovered two half-sibling matches, both through her father. In the first scenario, she matches a female on the full X chromosome (181 cM). She and her half-sibling MUST share their father’s entire X chromosome because he only had one X, from his mother, to contribute to both of his daughters.

In the second match to a male half-sibling, our female tester shares NO X match because her father did not contribute an X chromosome to his son.

If we didn’t know which parents these half-sibling matches were through, we can infer from the X matching alone that the male is probably NOT through the mother.

Then by comparing shared matches with each sibling, Advanced Matches, or viewing the match Matrix, we can determine if the siblings match each other and are from the same or different sides of the family.

Under Additional Tests and Tools, Advanced Matching, FamilyTreeDNA provides an additional tool that can show only X matches combined with relationships.

Of course, you’ll need to view shared matches to see which people match the mother and/or match the father.

To see who matches each other, you’ll need to use the Matrix tool.

At FamilyTreeDNA, the Matrix, located under Autosomal DNA Results and Tools, allows you to select your matches to see if they also match each other. If you have known half-siblings, or close relatives, this is another way to view relationships.

Here’s an example using my father and two paternal half-siblings. We can see that the half-siblings also match each other, so they are (at least) half-siblings on the paternal side too.

If they also matched my mother, we would be full siblings, of course.

Next, let’s use Y DNA and mitochondrial DNA.

Y DNA and Mitochondrial DNA

In addition to autosomal DNA, we can utilize Y DNA and mitochondrial DNA (mtDNA) in some cases to identify siblings or to narrow or eliminate relationship possibilities.

Given that Y DNA and mitochondrial DNA both have distinctive inheritance paths, full and half-siblings will, or will not, match under various circumstances.

Y DNA

Y DNA is passed intact from father to son, meaning it’s not admixed with any of the mother’s DNA. Daughters do not inherit Y DNA from their father, so Y DNA is only useful for male-to-male comparisons.

Two types of Y DNA are used for genealogy, STR markers for matching, and haplogroups, and both are equally powerful in slightly different ways.

Y DNA at FamilyTreeDNA

Men can order either 37 or 111 STR marker tests, or the BIg Y which provides more than 700 markers and more. FamilyTreeDNA is the only one of the vendors to offer Y DNA testing that includes STR markers and matching between men.

Men who order these tests will be compared for matching on either 37, 111 or 700 STR markers in addition to SNP markers used for haplogroup identification and assignment.

Fathers will certainly match their sons, and paternal line brothers will match each other, but they will also match people more distantly related.

However, if two men are NOT either full or half siblings on the paternal side, they won’t match at 111 markers.

If two men DON’T match, especially at high marker levels, they likely aren’t siblings. The word “likely” is in there because, very occasionally, a large deletion occurs that prevents STR matching, especially at lower levels.

Additionally, men who take the 37 or 111 marker test also receive an estimated haplogroup at a high level for free, without any additional testing.

However, if men take the Big Y-700 test, they not only will (or won’t) match on up to 700 STR markers, they will also receive a VERY refined haplogroup via SNP marker testing that is often even more sensitive in terms of matching than STR markers. Between these two types of markers, Y DNA testing can place men very granularly in relation to other men.

Men can match in two ways on Y DNA, and the results are very enlightening.

If two men match on BOTH their most refined haplogroup (Big Y test) AND STR markers, they could certainly be siblings or father/son. They could also be related on the same line for another reason, such as known or unknown cousins or closer relationships like uncle/nephew. Of course, Y DNA, in addition to autosomal matching, is a powerful combination.

Conversely, if two men don’t have a similar or close haplogroup, they are not a father and son or paternal line siblings.

FamilyTreeDNA offers both inexpensive entry-level testing (37 and 111 markers) and highly refined advanced testing of most of the Y chromosome (Big Y-700), so haplogroup assignments can vary widely based on the test you take. This makes haplogroup matching and interpretation a bit more complex.

For example, haplogroups R-M269 and I-BY14000 are not related in thousands of years. One is haplogroup R, and one is haplogroup I – completely different branches of the Y DNA tree. These two men won’t match on STR markers or their haplogroup.

However, because FamilyTreeDNA provides over 50,000 different haplogroups, or tree branches, for Big Y testers, and they provide VERY granular matching, two father/son or sibling males who have BOTH tested at the Big Y-700 level will have either the exact same haplogroup, or at most, one branch difference on the tree if a mutation occurred between father and son.

If both men have NOT tested at the Big Y-700 level, their haplogroups will be on the same branch. For example, a man who has only taken a 37/111 marker STR test may be estimated at R-M269, which is certainly accurate as far as it goes.

His sibling who has taken a Big Y test will be many branches further downstream on the tree – but on the same large haplogroup R-M269 branch. It’s essential to pay attention to which tests a Y DNA match has taken when analyzing the match.

The beauty of the two kinds of tests is that even if one haplogroup is very general due to no Big Y test, their STR markers should still match. It’s just that sometimes this means that one hand is tied behind your back.

Y DNA matching alone can eliminate the possibility of a direct paternal line connection, but it cannot prove siblingship or paternity alone – not without additional information.

The Advanced Matching tool will provide a list of matches in all categories selected – in this case, both the 111 markers and the Family Finder test. You can see that one of these men is the father of the tester, and one is the full sibling.

You can view haplogroup assignments on the public Y DNA tree, here. I wrote about using the public tree, here.

In addition, recently, FamilyTreeDNA launched the new Y DNA Discover tool, which explains more about haplogroups, including their ages and other fun facts like migration paths along with notable and ancient connections. I wrote about using the Discover tool, here.

Y DNA at 23andMe

Testers receive a base haplogroup with their autosomal test. 23andMe tests a limited number of Y DNA SNP locations, but they don’t test many, and they don’t test STR markers, so there is no Y DNA matching and no refined haplogroups.

You can view the haplogroups of your matches. If your male sibling match does NOT share the same haplogroup, the two men are not paternal line siblings. If two men DO share the same haplogroup, they MIGHT be paternal siblings. They also might not.

Again, autosomal close matching plus haplogroup comparisons include or exclude paternal side siblings for males.

Paternal side siblings at 23andMe share the same haplogroup, but so do many other people. These two men could be siblings. The haplogroups don’t exclude that possibility. If the haplogroups were different, that would exclude being either full or paternal half-siblings.

Men can also compare their mitochondrial DNA to eliminate a maternal relationship.

These men are not full siblings or maternal half-siblings. We know, unquestionably, because their mitochondrial haplogroups don’t match.

23andMe also constructs a genetic tree, but often struggles with close relative placement, especially when half-relationships are involved. I do not recommend relying on the genetic tree in this circumstance.

Mitochondrial DNA

Mitochondrial DNA is passed from mothers to all of their children, but only females pass it on. If two people, males or females, don’t match on their mitochondrial DNA test, with a couple of possible exceptions, they are NOT full siblings, and they are NOT maternal half-siblings.

Mitochondrial DNA at 23andMe

23andMe provides limited, base mitochondrial haplogroups, but no matching. If two people don’t have the same haplogroup at 23andMe, they aren’t full or maternal siblings, as illustrated above.

Mitochondrial DNA at FamilyTreeDNA

FamilyTreeDNA provides both mitochondrial matching AND a much more refined haplogroup. The full sequence test (mtFull), the only version sold today, is essential for reliable comparisons.

Full siblings or maternal half-siblings will always share the same haplogroup, regardless of their sex.

Generally, a full sibling or maternal half-sibling match will match exactly at the full mitochondrial sequence (FMS) level with a genetic distance of zero, meaning fully matching and no mismatching mutations.

There are rare instances where maternal siblings or even mothers and children do not match exactly, meaning they have a genetic distance of greater than 0, because of a mutation called a heteroplasmy.

I wrote about heteroplasmies, here.

Like Y DNA, mitochondrial DNA cannot identify a sibling or parental relationship without additional evidence, but it can exclude one, and it can also provide much-needed evidence in conjunction with autosomal matching. The great news is that unlike Y DNA, everyone has mitochondrial DNA and it comes directly from their mother.

Once again, FamilyTreeDNA’s Advanced Matching tool provides a list of people who match you on both your mitochondrial DNA test and the Family Finder autosomal test, including transfers/uploads, and provides a relationship.

You can see that our tester matches both a full sibling and their mother. Of course, a parent/child match could mean that our tester is a female and one of her children, of either sex, has tested.

Below is an example of a parent-child match that has experienced a heteroplasmy.

Based on the comparison of both the mitochondrial DNA test, plus the autosomal Family Finder test, you can verify that this is a close family relationship.

You can also eliminate potential relationships based on the mitochondrial DNA inheritance path. The mitochondrial DNA of full siblings and maternal half-siblings will always match at the full sequence and haplogroup level, and paternal half-siblings will never match. If paternal half-siblings do match, it’s happenstance or because of a different reason.

Sibling Summary and Checklist

I’ve created a quick reference checklist for you to use when attempting to determine whether or not a match is a sibling, and, if so, whether they are half or full siblings. Of course, these tools are in addition to the DNAPainter Shared cM Tool and GEDmatch’s Relationship Predictor Calculator.

FamilyTreeDNA Ancestry 23andMe MyHeritage GEDmatch
Matching Yes Yes Yes Yes Yes
Shared Matches Yes – In Common With Yes – Shared Matches Yes – Relatives in Common Yes – Review DNA Match Yes – People who match both or 1 of 2 kits
Relationship Between Shared Matches No No No Yes, under shared match No
Matches Match Each Other* Yes, Matrix No Yes, under “View DNA details,” then, “compare with more relatives” Partly, through triangulation Yes, can match any kits
Full Siblings Yes Sibling, implies full Yes Brother, Sister, means full No
Half Siblings Sibling, Uncle/Aunt-Niece/Nephew, Grandparent-Grandchild Close Family – 1C Yes Half sibling, aunt/uncle-niece-nephew No
Fully Identical Regions (FIR) No No Yes No Yes
Half Identical Regions (HIR) No No Yes No Yes
X matching Yes No Yes No Yes
Unusual Reporting or Anomalies No No, Timber is not used on close relationships X match added into total, FIR added twice No Matching amount can vary from vendors
Y DNA Yes, STRs, refined haplogroups, matching No High-level haplogroup only, no matching No No, only if tester enters haplogroup manually
Mitochondrial DNA Yes, full sequence, matching, refined haplogroup No High-level haplogroup only, no matching No No, only if tester enters haplogroup manually
Combined Tools (Autosomal, X, Y, mtDNA) Yes No No No No

*Autoclusters through Genetic Affairs show cluster relationships of matches to the tester and to each other, but not all matches are included, including close matches. While this is a great tool, it’s not relevant for determining close and sibling relationships. See the article, AutoClustering by Genetic Affairs, here.

Additional Resources

Some of you may be wondering how endogamy affects sibling numbers.

Endogamy makes almost everything a little more complex. I wrote about endogamy and various ways to determine if you have an endogamous heritage, here.

Please note that half-siblings with high cM matches also fall into the range of full siblings (1613-3488), with or without endogamy. This may be, but is not always, especially pronounced in endogamous groups.

As another resource, I wrote an earlier article, Full or Half Siblings, here, that includes some different examples.

Strategy

You have a lot of quills in your quiver now, and I wish you the best if you’re trying to unravel a siblingship mystery.

You may not know who your biological family is, or maybe your sibling doesn’t know who their family is, but perhaps your close relatives know who their family is and can help. Remember, the situation that has revealed itself may be a shock to everyone involved.

Above all, be kind and take things slow. If your unexpected sibling match becomes frightened or overwhelmed, they may simply check out and either delete their DNA results altogether or block you. They may have that reaction before you have a chance to do anything.

Because of that possibility, I recommend performing your analysis quickly, along with taking relevant screenshots before reaching out so you will at least have that much information to work with, just in case things go belly up.

When you’re ready to make contact, I suggest beginning by sending a friendly, short, message saying that you’ve noticed that you have a close match (don’t say sibling) and asking what they know about their family genealogy – maybe ask who their grandparents are or if they have family living in the area where you live. I recommend including a little bit of information about yourself, such as where you were born and are from.

I also refrain from using the word adoption (or similar) in the beginning or giving too much detailed information, because it sometimes frightens people, especially if they know or discover that there’s a painful or embarrassing family situation.

And, please, never, ever assume the worst of anyone or their motives. They may be sitting at their keyboard with the same shocked look on their face as you – especially if they have, or had, no idea. They may need space and time to reach a place of acceptance. There’s just nothing more emotionally boat-capsizing in your life than discovering intimate and personal details about your parents, one or both, especially if that discovery is disappointing and image-altering.

Or, conversely, your sibling may have been hoping and waiting just for you!

Take a deep breath and let me know how it goes!

Please feel free to share this article with anyone who could benefit.

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Top Ten RootsTech 2022 DNA Sessions + All DNA Session Links

The official dates of RootsTech 2022 were March 3-5, but the sessions and content in the vendor booths are still available. I’ve compiled a list of the sessions focused on DNA, with web links on the RootsTech YouTube channel

YouTube reports the number of views, so I was able to compile that information as of March 8, 2022.

I do want to explain a couple of things to add context to the numbers.

Most speakers recorded their sessions, but a few offered live sessions which were recorded, then posted later for participants to view. However, there have been glitches in that process. While the sessions were anticipated to be available an hour or so later, that didn’t quite happen, and a couple still aren’t posted. I’m sure the presenters are distressed by this, so be sure to watch those when they are up and running.

The Zoom rooms where participants gathered for the live sessions were restricted to 500 attendees. The YouTube number of views does not include the number of live viewers, so you’ll need to add an additional number, up to 500.

When you see a number before the session name, whether recorded or live, that means that the session is part of a series. RootsTech required speakers to divide longer sessions into a series of shorter sessions no longer than 15-20 minutes each. The goal was for viewers to be able to watch the sessions one after the other, as one class, or separately, and still make sense of the content. Let’s just say this was the most challenging thing I’ve ever done as a presenter.

For recorded series sessions, these are posted as 1, 2 and 3, as you can see below with Diahan Southard’s sessions. However, with my live session series, that didn’t happen. It looks like my sessions are a series, but when you watch them, parts 1, 2 and 3 are recorded and presented as one session. Personally, I’m fine with this, because I think the information makes a lot more sense this way. However, it makes comparisons difficult.

This was only the second year for RootsTech to be virtual and the conference is absolutely HUGE, so live and learn. Next year will be smoother and hopefully, at least partially in-person too.

When I “arrived” to present my live session, “Associating Autosomal DNA Segments With Ancestors,” my lovely moderator, Rhett, told me that they were going to livestream my session to the RootsTech page on Facebook as well because they realized that the 500 Zoom seat limit had been a problem the day before with some popular sessions. I have about 9000 views for that session and more than 7,400 of them are on the RootsTech Facebook page – and that was WITHOUT any advance notice or advertising. I know that the Zoom room was full in addition. I felt kind of strange about including my results in the top ten because I had that advantage, but I didn’t know quite how to otherwise count my session. As it turns out, all sessions with more than 1000 views made it into the top ten so mine would have been there one way or another. A big thank you to everyone who watched!

I hope that the RootsTech team notices that the most viewed session is the one that was NOT constrained by the 500-seat limited AND was live-streamed on Facebook. Seems like this might be a great way to increase session views for everyone next year. Hint, hint!!!

I also want to say a huge thank you to all of the presenters for producing outstanding content. The sessions were challenging to find, plus RootsTech is always hectic, even virtually. So, I know a LOT of people will want to view these informative sessions, now that you know where to look and have more time. Please remember to “like” the session on YouTube as a way of thanking your presenter.

With 140 DNA-focused sessions available, you can watch a new session, and put it to use, every other day for the next year! How fun is that! You can use this article as your own playlist.

Please feel free to share this article with your friends and genealogy groups so everyone can learn more about using DNA for genealogy.

Ok, let’s look at the top 10. Drum roll please…

Top 10 Most Viewed RootsTech Sessions

Session Title Presenter YouTube Link Views
1 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

~9000: 1019 + 500 live viewers + 7,400+ Facebook
2 1. What to Do with Your DNA Test Results in 2022 (part 1 of 3) Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
3 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
4 2. What to Do with Your DNA Test Results in 2022 (part 2 of 3) Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
5 Latest DNA Painter Releases DNAPainter Jonny Perl (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
6 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
7 3. What to Do with Your DNA Test Results in 2022 (part 3 of 3) Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
8 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
9 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 

10 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers

 

All DNA-Focused Sessions

I know you’ll find LOTS of goodies here. Which ones are your favorites?

  Session Presenter YouTube Link Views
1 Estimating Relationships by Combining DNA from Multiple Siblings Amy Williams https://www.youtube.com/watch?v=xs1U0ohpKSA 201
2 Overview of HAPI-DNA.org Amy Williams https://www.youtube.com/watch?v=FjNiJgWaBeQ 126
3 How do AncestryDNA® Communities help tell your story? | Ancestry® Ancestry https://www.youtube.com/watch?v=EQNpUxonQO4 183

 

4 AncestryDNA® 201 Ancestry – Crista Cowan https://www.youtube.com/watch?v=lbqpnXloM5s

 

494
5 Genealogy in a Minute: Increase Discoveries by Attaching AncestryDNA® Results to Family Tree Ancestry – Crista Cowan https://www.youtube.com/watch?v=iAqwSCO8Pvw 369
6 AncestryDNA® 101: Beginner’s Guide to AncestryDNA® | Ancestry® Ancestry – Lisa Elzey https://www.youtube.com/watch?v=-N2usCR86sY 909
7 Hidden in Plain Sight: Free People of Color in Your Family Tree Cheri Daniels https://www.youtube.com/watch?v=FUOcdhO3uDM 179
8 Finding Relatives to Prevent Hereditary Cancer ConnectMyVariant – Dr. Brian Shirts https://www.youtube.com/watch?v=LpwLGgEp2IE 63
9 Piling on the chromosomes Debbie Kennett https://www.youtube.com/watch?v=e14lMsS3rcY 465
10 Linking Families With Rare Genetic Condition Using Genealogy Deborah Neklason https://www.youtube.com/watch?v=b94lUfeAw9k 43
11 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
12 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
13 2. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
14 DNA Testing For Family History Diahan Southard https://www.youtube.com/watch?v=kCLuOCC924s 84

 

15 Understanding Your DNA Ethnicity Estimate at 23andMe Diana Elder

 

https://www.youtube.com/watch?v=xT1OtyvbVHE 66
16 Understanding Your Ethnicity Estimate at FamilyTreeDNA Diana Elder https://www.youtube.com/watch?v=XosjViloVE0 73
17 DNA Monkey Wrenches Katherine Borges https://www.youtube.com/watch?v=Thv79pmII5M 245
18 Advanced Features in your Ancestral Tree and Fan Chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=4u5Vf13ZoAc 425
19 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
20 Getting Segment Data from 23andMe DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=8EBRI85P3KQ 134
21 Getting segment data from FamilyTreeDNA DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=rWnxK86a12U 169
22 Getting segment data from Gedmatch DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=WF11HEL8Apk 163
23 Getting segment data from Geneanet DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=eclj8Ap0uK4 38
24 Getting segment data from MyHeritage DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=9rGwOtqbg5E 160
25 Inferred Chromosome Mapping: Maximize your DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
26 Keeping track of your genetic family tree in a fan chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=W3Hcno7en94 806

 

27 Mapping a DNA Match in a Chromosome Map DNAPainter – Jonny Perl https://www.youtube.com/watch?v=A61zQFBWaiY 423
28 Setting up an Ancestral Tree and Fan Chart and Exploring Tree Completeness DNAPainter – Jonny Perl https://www.youtube.com/watch?v=lkJp5Xk1thg 77
29 Using the Shared cM Project Tool to Evaluate DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=vxhn9l3Dxg4 763
30 Your First Chromosome Map: Using your DNA Matches to Link Segments to Ancestors DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
31 DNA Painter for absolute beginners DNAPainter (Jonny Perl) https://www.youtube.com/watch?v=JwUWW4WHwhk 1196
32 Latest DNA Painter Releases DNAPainter (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
33 Unraveling your genealogy with DNA segment networks using AutoSegment from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=rVpsJSqOJZI

 

162
34 Unraveling your genealogy with genetic networks using AutoCluster Evert-Jan Blom https://www.youtube.com/watch?v=ZTKSz_X7_zs 201

 

 

35 Unraveling your genealogy with reconstructed trees using AutoTree & AutoKinship from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=OmDQoAn9tVw 143
36 Research Like a Pro with DNA – A Genealogist’s Guide to Finding and Confirming Ancestors with DNA Family Locket Genealogists https://www.youtube.com/watch?v=NYpLscJJQyk 183
37 How to Interpret a DNA Network Graph Family Locket Genealogists – Diana Elder https://www.youtube.com/watch?v=i83WRl1uLWY 393
38 Find and Confirm Ancestors with DNA Evidence Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=DGLpV3aNuZI 144
39 How To Make A DNA Network Graph Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=MLm_dVK2kAA 201
40 Create A Family Tree With Your DNA Matches-Use Lucidchart To Create A Picture Worth A Thousand Words Family Locket Genealogists – Robin Wirthlin https://www.youtube.com/watch?v=RlRIzcW-JI4 270
41 Charting Companion 7 – DNA Edition Family Tree Maker https://www.youtube.com/watch?v=k2r9rkk22nU 316

 

42 Family Finder Chromosome Browser: How to Use FamilyTreeDNA https://www.youtube.com/watch?v=w0_tgopBn_o 750

 

 

43 FamilyTreeDNA: 22 Years of Breaking Down Brick Walls FamilyTreeDNA https://www.familysearch.org/rootstech/session/familytreedna-22-years-of-breaking-down-brick-walls Not available
44 Review of Autosomal DNA, Y-DNA, & mtDNA FamilyTreeDNA  – Janine Cloud https://www.youtube.com/watch?v=EJoQVKxgaVY 77
45 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
46 Part 1: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=ra1cjGgvhRw 684

 

47 Part 2: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=CgqcjBD6N8Y

 

259
48 Big Y-700: A Brief Overview FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=IefUipZcLCQ 96
49 Mitochondrial DNA & The Million Mito Project FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=5Zppv2uAa6I 179
50 Mitochondrial DNA: What is a Heteroplasmy FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=ZeGTyUDKySk 57
51 Y-DNA Big Y: A Lifetime Analysis FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=E6NEU92rpiM 154
52 Y-DNA: How SNPs Are Added to the Y Haplotree FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=CGQaYcroRwY 220
53 Family Finder myOrigins: Beginner’s Guide FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=VrJNpSv8nlA 88
54 Mitochondrial DNA: Matches Map & Results for mtDNA FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=YtA1j01MOvs 190
55 Mitochondrial DNA: mtDNA Mutations Explained FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=awPs0cmZApE 340

 

56 Y-DNA: Haplotree and SNPs Page Overview FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=FOuVhoMD-hw 432
57 Y-DNA: Understanding the Y-STR Results Page FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=gCeZz1rQplI 148
58 Y-DNA: What Is Genetic Distance? FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=qJ6wY6ILhfg 149
59 DNA Tools: myOrigins 3.0 Explained, Part 1 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=ACgY3F4-w78 74

 

60 DNA Tools: myOrigins 3.0 Explained, Part 2 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=h7qU36bIFg0 50
61 DNA Tools: myOrigins 3.0 Explained, Part 3 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=SWlGPm8BGyU 36
62 African American Genealogy Research Tips FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=XdbkM58rXIQ 153

 

63 Connecting With My Ancestors Through Y-DNA FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=xbo1XnLkuQU 200
64 Join The Million Mito Project FamilyTreeDNA (Join link) https://www.familysearch.org/rootstech/session/join-the-million-mito-project link
65 View the World’s Largest mtDNA Haplotree FamilyTreeDNA (Link to mtDNA tree) https://www.familytreedna.com/public/mt-dna-haplotree/L n/a
66 View the World’s Largest Y Haplotree FamilyTreeDNA (Link to Y tree) https://www.familytreedna.com/public/y-dna-haplotree/A link
67 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 

68 DNA Upload: How to Transfer Your Autosomal DNA Data FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=CS-rH_HrGlo 303
69 Family Finder myOrigins: How to Compare Origins With Your DNA Matches FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=7mBmWhM4j9Y 145
70 Join Group Projects at FamilyTreeDNA FamilyTreeDNA link to learning center article) https://www.familysearch.org/rootstech/session/join-group-projects-at-familytreedna link

 

71 Product Demo – Unraveling your genealogy with reconstructed trees using AutoKinship GEDmatch https://www.youtube.com/watch?v=R7_W0FM5U7c 803
72 Towards a Genetic Genealogy Driven Irish Reference Genome Gerard Corcoran https://www.youtube.com/watch?v=6Kx8qeNiVmo 155

 

73 Discovering Biological Origins in Chile With DNA: Simple Triangulation Gonzalo Alexis Luengo Orellana https://www.youtube.com/watch?v=WcVby54Uigc 40
74 Cousin Lynne: An Adoption Story International Association of Jewish Genealogical Societies https://www.youtube.com/watch?v=AptMcV4_B4o 111
75 Using DNA Testing to Uncover Native Ancestry Janine Cloud https://www.youtube.com/watch?v=edzebJXepMA 205
76 1. Forensic Genetic Genealogy Jarrett Ross https://www.youtube.com/watch?v=0euIDZTmx5g 58
77 Reunited and it Feels so Good Jennifer Mendelsohn https://www.youtube.com/watch?v=X-hxjm7grBE 57

 

78 Genealogical Research and DNA Testing: The Perfect Companions Kimberly Brown https://www.youtube.com/watch?v=X82jA3xUVXk 80
79 Finding a Jewish Sperm Donor Kitty Munson Cooper https://www.youtube.com/watch?v=iKRjFfNcpug 164
80 Using DNA in South African Genealogy Linda Farrell https://www.youtube.com/watch?v=HXkbBWmORM0 141
81 Using DNA Group Projects In Your Family History Research Mags Gaulden https://www.youtube.com/watch?v=0tX7QDib4Cw 165
82 2. The Expansion of Genealogy Into Forensics Marybeth Sciaretta https://www.youtube.com/watch?v=HcEO-rMe3Xo 35

 

83 DNA Interest Groups That Keep ’em Coming Back McKell Keeney (live) https://www.youtube.com/watch?v=HFwpmtA_QbE 180 plus live viewers
84 Searching for Close Relatives with Your DNA Results Mckell Keeney (live) https://www.familysearch.org/rootstech/session/searching-for-close-relatives-with-your-dna-results Not yet available
85 Top Ten Reasons To DNA Test For Family History Michelle Leonard https://www.youtube.com/watch?v=1B9hEeu_dic 181
86 Top Tips For Identifying DNA Matches Michelle Leonard https://www.youtube.com/watch?v=-3Oay_btNAI 306
87 Maximising Messages Michelle Patient https://www.youtube.com/watch?v=4TRmn0qzHik 442
88 How to Filter and Sort Your DNA Matches MyHeritage https://www.youtube.com/watch?v=fmIgamFDvc8 88
89 How to Get Started with Your DNA Matches MyHeritage https://www.youtube.com/watch?v=JPOzhTxhU0E 447

 

90 How to Track DNA Kits in MyHeritage` MyHeritage https://www.youtube.com/watch?v=2W0zBbkBJ5w 28

 

91 How to Upload Your DNA Data to MyHeritage MyHeritage https://www.youtube.com/watch?v=nJ4RoZOQafY 82
92 How to Use Genetic Groups MyHeritage https://www.youtube.com/watch?v=PtDAUHN-3-4 62
My Story: Hope MyHeritage https://www.youtube.com/watch?v=qjyggKZEXYA 133
93 MyHeritage Keynote, RootsTech 2022 MyHeritage https://www.familysearch.org/rootstech/session/myheritage-keynote-rootstech-2022 Not available
94 Using Labels to Name Your DNA Match List MyHeritage https://www.youtube.com/watch?v=enJjdw1xlsk 139

 

95 An Introduction to DNA on MyHeritage MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=1I6LHezMkgc 60
96 Using MyHeritage’s Advanced DNA Tools to Shed Light on Your DNA Matches MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=Pez46Xw20b4 110
97 You’ve Got DNA Matches! Now What? MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=gl3UVksA-2E 260
98 My Story: Lizzie and Ayla MyHeritage – Elizbeth Shaltz https://www.youtube.com/watch?v=NQv6C8G39Kw 147
99 My Story: Fernando and Iwen MyHeritage – Fernando Hermansson https://www.youtube.com/watch?v=98-AR0M7fFE 165

 

100 Using the Autocluster and the Chromosome Browser to Explore Your DNA Matches MyHeritage – Gal Zruhen https://www.youtube.com/watch?v=a7aQbfP7lWU 115

 

101 My Story : Kara Ashby Utah Wedding MyHeritage – Kara Ashby https://www.youtube.com/watch?v=Qbr_gg1sDRo 200
102 When Harry Met Dotty – using DNA to break down brick walls Nick David Barratt https://www.youtube.com/watch?v=8SdnLuwWpJs 679
103 How to Add a DNA Match to Airtable Nicole Dyer https://www.youtube.com/watch?v=oKxizWIOKC0 161
104 How to Download DNA Match Lists with DNAGedcom Client Nicole Dyer https://www.youtube.com/watch?v=t9zTWnwl98E 124
105 How to Know if a Matching DNA Segment is Maternal or Paternal Nicole Dyer https://www.youtube.com/watch?v=-zd5iat7pmg 161
106 DNA Basics Part I Centimorgans and Family Relationships Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=SI1yUdnSpHA 372
107 DNA Basics Part II Clustering and Connecting Your DNA Matches Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=ECs4a1hwGcs 333
108 DNA Basics Part III Charting Your DNA Matches to Get Answers Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=qzybjN0JBGY 270
109 2. Using Cluster Auto Painter Patricia Coleman https://www.youtube.com/watch?v=-nfLixwxKN4 691
110 3. Using Online Irish Records Patricia Coleman https://www.youtube.com/watch?v=mZsB0l4z4os 802
111 Exploring Different Types of Clusters Patricia Coleman https://www.youtube.com/watch?v=eEZBFPC8aL4 972

 

112 The Million Mito Project: Growing the Family Tree of Womankind Paul Maier https://www.youtube.com/watch?v=cpctoeKb0Kw 541
113 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
114 Y-DNA and Mitochondrial DNA Testing Plans Paul Woodbury https://www.youtube.com/watch?v=akymSm0QKaY 168
115 Finding Biological Family Price Genealogy https://www.youtube.com/watch?v=4xh-r3hZ6Hw 137
116 What Y-DNA Testing Can Do for You Richard Hill https://www.youtube.com/watch?v=a094YhIY4HU 191
117 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers
118 DNA for Native American Ancestry by Roberta Estes Roberta Estes https://www.youtube.com/watch?v=EbNyXCFfp4M 212
119 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

~9000: 1019 + 500 live viewers + 7,400+ Facebook
120 1. What Can I Do With Ancestral DNA Segments? Roberta Estes (live) https://www.youtube.com/watch?v=Suv3l4iZYAQ 325 plus live viewers

 

121 Native American DNA – Ancient and Contemporary Maps Roberta Estes (live) https://www.youtube.com/watch?v=dFTl2vXUz_0 212 plus 483 live viewers

 

122 How Can DNA Enhance My Family History Research? Robin Wirthlin https://www.youtube.com/watch?v=f3KKW-U2P6w 102
123 How to Analyze a DNA Match Robin Wirthlin https://www.youtube.com/watch?v=LTL8NbpROwM 367
124 1. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=AIJyphGEZTA 82

 

125 2. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=VM3MCYM0hkI 72
126 Ask us about DNA Talking Family History (live) https://www.youtube.com/watch?v=kv_RfR6OPpU 96 plus live viewers
127 1. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=WNhErW5UVKU

 

183
128 2. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=CRpQ8EVOShI 110

 

129 Common Problems When Doing Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=hzFxtBS5a8Y 68
130 Cross Visual Phasing to Go Back Another Generation Tanner Blair Tolman https://www.youtube.com/watch?v=MrrMqhfiwbs 64
131 DNA Basics Tanner Blair Tolman https://www.youtube.com/watch?v=OCMUz-kXNZc 155
132 DNA Painter and Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=2-eh1L4wOmQ 155
133 DNA Painter Part 2: Chromosome Mapping Tanner Blair Tolman https://www.youtube.com/watch?v=zgOJDRG7hJc 172
134 DNA Painter Part 3: The Inferred Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=96ai8nM4lzo

 

100
135 DNA Painter Part 4: The Distinct Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=Pu-WIEQ_8vc 83
136 DNA Painter Part 5: Ancestral Trees Tanner Blair Tolman https://www.youtube.com/watch?v=dkYDeFLduKA 73
137 Understanding Your DNA Ethnicity Results Tanner Blair Tolman https://www.youtube.com/watch?v=4tAd8jK6Bgw 518
138 What’s New at GEDmatch Tim Janzen https://www.youtube.com/watch?v=AjA59BG_cF4

 

515
139 What Does it Mean to Have Neanderthal Ancestry? Ugo Perego https://www.youtube.com/watch?v=DshCKDW07so 190
140 Big Y-700 Your DNA Guide https://www.youtube.com/watch?v=rIFC69qswiA 143
141 Next Steps with Your DNA Your DNA Guide – Diahan Southard (live) https://www.familysearch.org/rootstech/session/next-steps-with-your-dna Not yet available

Additions:

142  Adventures of an Amateur Genetic Genealogist – Geoff Nelson https://www.familysearch.org/rootstech/session/adventures-of-an-amateur-genetic-genealogist     291 views

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What is a Heteroplasmy and Why Do I Care?

Most people have never heard of a heteroplasmy – but you might have one.

You Might Have a Heteroplasmy If…

…You have no exact matches at the full sequence mitochondrial DNA level.

A heteroplasmy is one of the first things I think of when someone tells me they have no exact full sequence matches but several that are a genetic distance of 1, meaning one mutation difference.

That phenomenon usually means the tester has a rare mutation that no one else has, at least no one who has tested their mitochondrial DNA (yet) – and that mutation just might be a heteroplasmy.

Heteroplasmies are generally (but not always) quite recent mutations. Actually, heteroplasmies are mutations caught in the act of mutating – kind of like an insect in genetic amber – frozen in time in your generation.

By Anders L. Damgaard – http://www.amber-inclusions.dk – Baltic-amber-beetle CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=16792582

Let’s say you might have a heteroplasmy. Or maybe you want to see if you do. Even if YOU don’t have a heteroplasmy, other people’s heteroplasmies can and will affect matching.

Here’s everything you ever wanted to know about heteroplasmies but didn’t know to ask😊

Heteroplasmies are Fascinating

A heteroplasmy is actually quite interesting because it’s a genetic mutation in progress.

This means you have two versions of a DNA sequence showing in your mitochondrial DNA at a specific location.

Said another way, at a specific genetic location, you show both of two separate nucleotides. Amounts detected of a second nucleotide greater than 20% are considered a heteroplasmy. Amounts below 20% are ignored. Generally, within a few generations, the mutation will resolve in one direction or the other – although some heteroplasmies persist for several generations and can sometimes define family branches.

If you’d like to read more about mitochondrial DNA, I wrote a series of step-by-step articles and combined them into one resource page, here.

Show Me!

You can easily check to see if you have a heteroplasmy by signing on to your FamilyTreeDNA account. Hopefully, you’ve taken the full sequence test.

Today, new testers, thankfully, can only purchase full sequence tests, so HVR1 results don’t present quite the same challenges when combined with heteroplasmies as they used to. We’ll talk about that in a minute.

If you have only taken the HVR1 or HVR1+HVR2 “Plus” test, as opposed to the Full Sequence, you can upgrade by signing on here and clicking on the “Full” button on the Maternal Ancestry section of your personal page.

These buttons will be pink if you’ve taken that test already, and grey if you need to upgrade. If you have an account at FamilyTreeDNA, you can add a mitochondrial DNA test to that same account by clicking on “Add Ons and Upgrades” at the top of your personal page. You can order a test if you’re a new customer, here.

How Do I Know if I Have a Heteroplasmy?

Your mitochondrial DNA has a total of 16,569 locations that you can think of as addresses. If your DNA at those locations is normal, meaning no mutations, they won’t be listed in your results.

Mutations are shown in your mitochondrial DNA results by a different letter at the end of the location.

For example, here are my mutations for my HVR1 region. Each of these locations in the HVR1 region has a mutation.

For locations that are shown in your results, meaning those where you have a mutation, you’ll see, in order:

  • A letter, either T, A, C or G
  • The location number
  • A different letter, typically another one of T, A, C or G, but sometimes a small d

For the first mutation, C16069T, the location address is 16069, the normal value is C, the mutation that occurred is T.

Heteroplasmies are shown in your mitochondrial DNA results by letters other than T, A, C, G or d at the end of the location.

I don’t have any heteroplasmies, so I’m switching to the results of a cousin who has a heteroplasmic mutation at location T16362Y to use as an example. The trailing Y means they have a heteroplasmy at location 16362.

But first, what do those letters mean?

The Letters

The letters stand for the nucleotide bases that comprise DNA, as follows:

  • T – Thymine
  • A – Adenine
  • C – Cytosine
  • G – Guanine
  • d – a deletion has occurred. There is no nucleotide at this location.

For location T16362Y, the first letter, T, is the “normal” value found at this location. If a mutation has occurred, the second letter is the mutated value. Normally, this is one of the other nucleotides, A, C or G.

Any other letter after the location has a specific meaning; in this case, Y means that both a C and a T were found, per the chart below.

Note – if you have a small letter t, a, c or g, it’s not a heteroplasmy, and I wrote about small letters and what they mean in the article, Mitochondrial DNA Part 2: What Do Those Numbers Mean?

Check Your Results

On your FamilyTreeDNA personal page in the mtDNA section, click on the Mutations tab.

If you’ve taken the full sequence test, you’ll see Extra Mutations. You’re looking for any mutation that ends in any letter other than T, A, C, G or d.

If you haven’t taken the full sequence test, you don’t have “Extra” mutations listed, but you can still view your mutations for the HVR1 and HVR2 regions.

Look for any value that has any letter other than T, A, C, G or lower case d at the end of the location.

The Y tells us that this location is a heteroplasmy.

Heteroplasmy Matching

Ok, let’s look at a heteroplasmy mutation at location 16326. A heteroplasmy can occur at any mitochondrial location. I’ve selected this location because it occurs in the HVR1 region of the mitochondrial DNA, so even people who haven’t tested at the full sequence level will see results for this location. Plus, the location at which the heteroplasmy occurs affects matching in different ways.

Using the example of T16362Y, the Y tells us that both nucleotides C and T were found. This location should match against anyone carrying the following values in the same location:

  • Y (letter indicating a C/T heteroplasmy)
  • T (standard or normal value)
  • C (mutated value)

However, currently at Family Tree DNA, the heteroplasmy only counts as a match to anyone with a Y, the specific heteroplasmy indicator, and the “normal” value of T, but not the mutated value of C.

This table shows how heteroplasmies are counted at FamilyTreeDNA. For heteroplasmy T16362Y, based on the value your potential match has at this location, you either will or will not be considered a match at that location.

Scenario Other Person’s Value Your Result – T16362Y
1 T16362Y – heteroplasmy indicator Match to you at this location
2 T16362T – normal value, not a mutation Match to you at this location
3 T16362C – mutated value Not counted as match to you at this location
  • If your match has a value of Y, the heteroplasmic C/T value, they are counted as a match to you, so no problem.
  • If your match has a value of T, the normal value, this location won’t be shown on their mutation list at all. They WILL be counted as a match to you so there’s no issue.
  • If your match has a value of C, the mutated value, in my opinion they should also be counted as a match to you, but they aren’t today. The logic, I believe, was that the most likely value is the standard or normal value and that the mutated value is much less likely to be accurate. Regardless, I’ve requested this change and am hoping for a matching adjustment in a future release for heteroplasmies.

Heteroplasmies do affect matching at the different levels.

Viewing Your Matches

Mitochondrial DNA, for testing purposes, is broken into three regions, HVR1 (hyper-variable region 1), HVR2 and the Coding Region.

At FamilyTreeDNA, you can view your matches at each level. The matches are cumulative, meaning that the HVR2 level includes the HVR1 level information, and the Coding Region level includes the HVR1 and HVR2 regions. That highest level which includes all three regions shows information from your entire your entire full mitochondrial DNA sequence.

Heteroplasmy Effects on Matching

If you otherwise match someone exactly, but one of you has a heteroplasmy and the other person carries the mutated value, you will be counted as a mismatch of 1 at the full sequence level.

A mismatch has different effects when it occurs in the HVR1, HVR2 or Coding Regions, respectively.

GD is an abbreviation for Genetic Distance which is how mutations are counted. A GD of 1 means the two people have one mutation difference between them.

In the following chart, the effects of you having a nonmatch, heteroplasmic or otherwise, in each of the regions is shown at each level. The region in which the mismatch occurs is shown in the first column, at left, and the effect the mismatch has on matching in each region is shown in columns 2-4.

The red sections are not counted as matches.

Mismatch Occurs in this Region HVR1 Level Match to Someone Else HVR2 Level Match to Someone Else Coding Region Level Match to Someone Else
HVR1 region nonmatch GD of 1 means no match GD of 1 means no match GD of 1 is a match
HVR2 region nonmatch Does not affect HVR1 – so you are a match GD of 1 means no match GD of 1 is a match
Coding Region nonmatch Does not affect HVR1 – so you are a match Does not affect HVR2 – so you are a match GD of 1 is a match

For purposes of this discussion, we’re assuming our two people being compared in the chart above match exactly on every other location so matching is not otherwise affected.

  • If your heteroplasmic nonmatch occurs in the HVR1 region – in other words, scenario 3 – you’ll fall into the HVR1 nonmatch row. That means you won’t be shown as a match at the HVR1 or HVR1+HVR2 levels, but you WILL be shown as a full sequence match.
  • If your heteroplasmic nonmatch is in the HVR2 region of addresses, it won’t affect your HVR1 matches, but it will affect your HVR2 and Coding Region matches. This means you will be shown as HVR1 match, not an HVR2 match, but will be a full sequence match.
  • If your heteroplasmic nonmatch is in the Coding Region, it won’t affect your HVR1 or HVR2 matches, but it will affect your Coding Region matches. However, it won’t preclude matches and you’ll be shown as a match in all three regions.

To be very clear, I have no issue with these match thresholds. It’s important to understand how this works, and therefore why heteroplasmic (and other) mismatches in specific regions affect our matches in the way they do.

Why Aren’t Mismatches of 1 Counted as Matches in the HVR1 or HVR2 Regions?

The match threshold at FamilyTreeDNA for the HVR1 and the HVR1+HVR2 regions, both small regions of about 1000 locations each, is that only an exact match is considered a match. Therefore, a heteroplasmic nonmatch in this region can really be confusing and sometimes misleading, especially if either or BOTH people have NOT tested at the full sequence level.

These are the match thresholds in effect today.

HVR1 GD or # of Mutations Allowed for a Match HVR2 GD or # of Mutations Allowed for a Match Coding Region GD or # of Mutations Allowed for a Match
0 – no mutations allowed 0 – no mutations allowed 3 mutations allowed

If both people match on either the heteroplasmy identified (Y in our case) or one person has the normal value – all is fine. But if one person has a heteroplasmy and the other has the mutated value – then a mismatch occurs. This is really only problematic when:

  • The heteroplasmy mismatch is in the HVR1 region and both people have only tested at that level, causing the two people to not match at all.
  • The heteroplasmy mismatch occurs in combination with other mutations that, cumulatively, push the two people over the GD 3 full sequence matching threshold.

The second scenario happens rarely, but I have seen situations where people don’t match their mothers, aunts, siblings, or other close relatives because of multiple heteroplasmic mutations occurring in different people.

And yes, this is hen’s teeth rare – but it does occasionally happen.

So, what’s the bottom line about heteroplasmies?

Heteroplasmy Bottom Line

  1. You can suspect a heteroplasmy if you have full sequence matches, but no exact matches.
  2. If you have a heteroplasmy in the HVR1 region, understand that you may not have many or any matches in the HVR1 and HVR2 regions. The remedy is to test at the full sequence level and check matches there.
  3. If you have a heteroplasmy and don’t match someone you expect to match – reach out to them and ask about their value at that specific location. If that location isn’t listed for them in their results, then they have no mutation there and your heteroplasmy is NOT the cause of you not matching with them.
  4. If you don’t match someone you expect to match, reach out to them and ask if THEY have any heteroplasmies. The easiest way to ask is, “Do you have any mutations listed that end with anything other than T, A, C, G or d?” Feel free to link to this article so that they’ll know where to look, and why you’re asking.

Do you have any heteroplasmies?

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research