Summer Sale at Family Tree DNA

Do you ever have one of those weeks when absolutely nothing goes right? Me too, and that’s why this week’s regular blog article isn’t ready and didn’t get published.

But Family Tree DNA just saved the day by announcing their summer sale which will last from now until the end of August. (How can it possibly be August already?)

Summer sale 2019

These are great prices on both new purchases, bundles AND upgrades. Seldom does everything go on sale at the same time.

Confused About Which Test to Take?

If you are uncertain about which kind of DNA you’d like to test and how the different tests work, now’s a great time to take a look at the newly revamped and updated article, 4 Kinds of DNA for Genetic Genealogy. Feel free to share that (and this) article as well.

Sale Pricing!

Here’s a chart with the regular and sale prices for each product so you can see just how much you’re saving. Now’s a great time to order some kits to take to that family cookout or reunion!

Test Sale Price Regular Price Savings
Y37 $129 $169 $40
Y67 $199 $268 $69
Y111 $299 $359 $60
Big Y-700 $499 $649 $150
Family Finder $59 $79 $20
mtFull mitochondrial full sequence $149 $199 $50
       
Bundles      
Family Finder + Y37 $178 $248 $70
Family Finder + mtFull $198 $278 $80
Family Finder + Y67 + mtFull $387 $546 $159
Family Finder + Y111 + mtFull $487 $637 $150
Family Finder + Y37 + mtFull $317 $447 $130
Family Finder + Y67 $248 $347 $99
Family Finder + Y111 $348 $438 $90
Y37 + mtFull $268 $368 $100
Y67 + mtFull $338 $467 $129
Y111 + mtFull $438 $558 $120
       
Upgrades      
Y12 to Y37 $99 $109 $10
Y12 to Y67 $169 $199 $30
Y12 to Y111 $279 $359 $80
Y25 to Y37 $49 $59 $10
Y25 to Y67 $139 $159 $20
Y25 to Y111 $239 $269 $30
Y37 to Y67 $89 $109 $20
Y37 to Y111 $178 $228 $50
Y67 to Y111 $89 $99 $10
Y12 to Big Y-700 $489 $629 $140
Y25 to Big Y-700 $489 $599 $110
Y37 to Big Y-700 $459 $569 $110
Y67 to Big Y-700 $399 $499 $100
Y111 to Big Y-700 $349 $449 $100
Big Y-500 to Big Y-700 $229 $249 $20
mtDNA (HVR1) to mtFull $139 $159 $20
mtPlus (HVR1+HVR2) to mtFull $129 $159 $30

To purchase any of the tests, or upgrade, click on any link above, or here.

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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 Services

Genealogy Research

Your Mitochondrial DNA Journey – Free New Video at Family Tree DNA

Family Tree DNA released a cool new video for everyone who has taken the full sequence mitochondrial DNA test.

I signed in today and discovered this nice little gift.

mtDNA journey link.png

I clicked, and the first thing you do is to answer a few questions to generate your video.

After selecting a drawing of an avatar, you’ll move on to a couple of questions. Note that you cannot change your answers, so if you eventually want to share on social media, be sure the names and location is something you’ll be comfortable with.

mtDNA journey info.png

After you click submit, your video takes a few minutes to generate.

mtDNA journey generate.png

You’ll receive an e-mail when the video is ready.

mtDNA journey email.png

Now, just click on the very same link on your account.

mtDNA journey link

My video was 4 minutes+ in length and began by showing me how mitochondrial DNA is inherited.

mtDNA journey parents.png

Next, the video explains the concept of our ancestor, Mitochondrial Eve.

mtDNA journey mitochondrial eve.png

I must say, the speech is synthetic, and I chuckled every time I heard it say mitochondrial.

mtDNA journey haplogroup map.png

The video does a good job of describing the concept of a haplogroup, then proceeds to explain your base haplogroup – J in my case.

mtDNA journey haplogroup source.png

Next, your specific haplogroup, J1c2f for me, and where it’s found in the world.

mtDNA journey haplogroup specific.png

Hapogroup frequency is shown as well as the range, on a map.

mtDNA journey haplogroup range.png

One cool stop on your journey is your relationship to a notable figure, even if it’s distant.

mtdna journey notable.png

King Richard III, whose skeleton was found under a parking lot, also descends from haplogroup J. Who knew!!!

mtdna journey matches.png

The video provides some quick examples of how to understand your matches and explains mutations. My Swedish matches were really unexpected, given that my ancestor was found in Germany. There’s a story there waiting to be told!

mtDNA journey new match.png

Next, the video encourages people to sign in to view their matches when they receive match notification e-mails. Each match holds the promise of a new discovery.

mtDNA journey share.png

Last, you have an option to share your video with family and friends on social media.

mtDNA journey social media.png

Here I am on Facebook.

mtDNA journey on Facebook.png

Pretty cool.

The Great Thing About Mitochondrial DNA

The great thing about mitochondrial DNA is that results apply to several people in your family. You, your siblings, your mother and your mother’s siblings all share your maternal grandmother’s mitochondrial DNA – so the information is something that pertains to lots of people – not just you. Unlike autosomal tests, one of you can take a mitochondrial DNA test to represent everyone, so it’s a great value.

  • If you have taken the full sequence mitochondrial DNA test, just click here to sign in and generate your video.
  • If you’ve taken the HVR1 or HVR2 lower resolution test, you can upgrade to the full sequence by clicking on the upgrade button in your account and you’ll receive your video automatically when your full sequence results are ready.
  • If you haven’t yet tested your mitochondrial DNA, it’s the story of your matrilineal line – and it’s a great time to order your mitochondrial DNA test. Mine held surprises I’d never have guessed. Just recently I matched someone from the neighboring village to where my oldest known ancestor in that line lived in Germany in the 1600s. Her genealogy may help identify my ancestors too.

Click here to order.

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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 Services

Genealogy Research

DNA Results – First Glances at Ethnicity and Matching!

People who have worked with genetic genealogy for a long time often forget what it’s like to be a new person taking a DNA test.

Recently, someone asked me what a tester actually sees after they take a DNA test and their results are ready. Good question, especially for someone trying to decide what might work for them.

I’m going to make this answer very simple. For each of the 4 major vendors, I’m going to show what a customer sees when they first sign in and view their results. Not everything or every tool, just their main page along with the initial matching and ethnicity pages.

Please feel free to share this article with people who are new and might be interested. It’s easy to follow along.

I do want to stress that this is just the beginning, not the end game and that every vendor has much more to offer if you take advantage of their tools.

Best of all, it’s so much FUN to learn about your heritage and your ancestry, plus meeting cousins and family members you may not have known that you had.

I’ve been gifted with photos of my grandparents and great-grandparents that I had no idea existed before meeting new family members.

I hope that all the new testers will become excited and that their results are just a tiny first step!

The Vendors

I’m going to take a look at:

Each vendor offers DNA matching to others in their database, plus ethnicity estimates. Yes, ethnicity is only an estimate.

Family Tree DNA

Family Tree DNA was the first and still the only genetic genealogy testing company to offer a full range of DNA testing products, launching in the year 2000. Today they stand out as the “science company,” offering both Y and mitochondrial DNA testing in addition to their Family Finder test which is comparable with the tests offered by Ancestry, 23andMe and MyHeritage.

Your personal page at Family Tree DNA shows the following tools for the Family Finder test.

Glances Family Tree DNA home

The two options we’ll look at today are your Matches and myOrigins, which is your ethnicity estimate.

Click on Matches to view whose DNA matches you. In my case, on the page below, you can see that I have a total of 4610 matches, of which 986 have been assigned to my paternal side, 842 to my maternal side, and 4 to both sides. In my case, the 4 assigned to both sides are my children and grandchildren, which makes perfect sense,

Glances Family Tree DNA matches

You can click to enlarge this graphic.

The green box above the matches indicates additional tools which provide information such as who I match in common with another person. I can see, for example, who I match in common with a first cousin which is very helpful in determining which ancestor those matches are related through.

The red box and circle show information provided to me about each match.

Family Tree DNA is able to divide my matches into “Maternal,” “Paternal” and “Both” buckets because they encourage me to link DNA matches on my tree. This means that I connect my mother to her location on my tree so that Family Tree DNA knows that people that match Mother and me both are related on my mother’s side of the tree.

Your matches don’t have to be your parents for linking to work. The more people you link, the more matches Family Tree DNA can put into buckets for you, especially if your parents aren’t available to test. Plus, your aunts and uncles inherited parts of your grandparent’s DNA that your parents didn’t, so they are super important!

Figuring out which side your matches come from, and which ancestor is first step in genetic genealogy!

You can see, above, that my mother is “assigned” on my maternal side and my son matches me on both.

“Bucketing” is a great, innovative feature. But there’s more.

The tan rounded rectangle includes ancestral surnames, with the ones that you and your match have in common shown in bold.

Based on the amount of DNA that I share with a match, and other scientific calculations, a relationship range is calculated, with the linked relationship reflecting where I’ve put that person on my tree.

If your match has uploaded or created a tree, you can view their tree (if they share) by clicking on the little blue pedigree icon, above, circled in tan between the two arrows.

Glances Family Tree DNA tree

Here’s my tree with my family members who have DNA tested attached in the proper places in my tree. Of course, there are a lot more connected people that I’m not showing in this view.

Advanced features include tools like a matching matrix and a chromosome browser where you can view the segments that actually match.

Family Tree DNA Ethnicity

To view your ethnicity estimate, click on myOrigins and you’ll see the following, along with people you match in the various regions if they have given permission for that information to be shared with their matches:

Glances Family Tree DNA myOrigins

MyHeritage

MyHeritage has penetrated the European market quite well, so if your ancestors are from the US or Europe, MyHeritage is a wonderful resource. They offer both DNA testing and records via subscription, combining genetic matches and genealogical records into a powerful tool.

Glances MyHeritage home

At MyHeritage, when you sign in, the DNA tab is at the top.

Clicking on DNA Matches shows you the following match list:

Glances MyHeritage matches

To review all of the information provided for each match, meaning who they match in common with you, their ancestral surnames, their tree and matching details, you’ll click on “Review DNA Match.”

MyHeritage provides a special tool called Theories of Family Relativity which connects you with others and your common ancestors. In essence, MyHeritage uses DNA, trees and records to weave together at least some of your family lines, quite accurately.

Here’s a simple example where MyHeritage has figured out that one of the testers is my niece and has drawn our connection for us.

Theory match 2

Theories of Family Relativity is a recently released world-class tool, easy to use but can solve very complex problems. I wrote about it here.

Advanced DNA tools include a chromosome browser and triangulation, a feature which shows you when three people match on a common segment, indicating genetically that you all 3 share a common ancestor from whom you inherited that common piece of DNA.

MyHeritage Ethnicity

To view your ethnicity estimate at MyHeritage, simply click on Ethnicity Estimate on the menu.

Glances MyHeritage ethnicity.png

23andMe

23andMe is better known for their health offering, although they were the first commercial company to offer autosomal commercial testing. However, they don’t support trees, which for genealogists are essential. Furthermore, they limit the number of your matches to your 2000 closest matches, but if some of those people don’t choose to be included in matching, they are subtracted from your 2000 total allowed. Due to this, I have only 1501 matches, far fewer matches at 23andMe than at any of the other vendors.

Glances 23andMe home

At 23andMe when you sign on, under the Ancestry tab you’ll see DNA Relatives which are your matches and Ancestry Composition which is your ethnicity estimate.

Glances 23andMe matches

While you don’t see all of the information on this primary DNA page that you do with the other vendors, with the unfortunate exception of trees, it’s there, just not on the initial display.

23andMe also provides some advanced tools such as a chromosome browser and triangulation.

23andMe Ethnicity

What 23andMe does exceptionally well is ethnicity estimates.

To view your ethnicity at 23andMe, click on Ancestry Composition.

Glances 23andMe ethnicity

23andMe refines your ethnicity estimates if your parents have tested and shows you a composite of your ethnicity with your matches. However, I consider their ethnicity painting of your chromosomes to be their best feature.

Glances 23andMe chromosome painting

You can see, in my case, the two Native American segments on chromosomes 1 and 2, subsequently proven to be accurate via documentation along with Y and mitochondrial DNA tests at Family Tree DNA. The two chromosomes shown don’t equate necessarily to maternal and paternal.

I can download this information into a spreadsheet, meaning that I can then compare matches at other companies to these ethnicity segments on my mother’s side. If my matches share these segments, they too descend from our common Native American ancestor. How cool is that!!!

Ancestry

Ancestry’s claim to fame is that they have the largest DNA database for autosomal results. Because of that, you’ll have more matches at Ancestry, but if you’re a genealogist or someone seeking an unknown family member, the match you NEED might just be found in one of the other databases, so don’t assume you can simply test at one company and find everything you need.

You don’t know what you don’t know.

Glances Ancestry home

At Ancestry, when you sign on, you’ll see the DNA tab. Click on DNA Story.

Glances Ancestry DNA tab

Scrolling past some advertising, you’ll see DNA Story, which is your Ethnicity Estimate and DNA Matches.

ThruLines, at right, is a tool similar to MyHeritage’s Theories of Family Relativity, but not nearly as accurate. However, Thrulines are better than they were when first released in February. I wrote about ThruLines here.

Glances Ancestry matches

Clicking on DNA Matches shows me information about my matches, in red, their trees or lack thereof in green, and information I can enter including ways to group my matches, in tan.

One of Ancestry’s best features is the green leaf, at the bottom in the green box, accompanied by the smiley face (that I added.) That means that this match’s tree indicates that we have a common ancestor. However, the smiley face is immediately followed by the sad face when I noticed the little lock, which means their tree is private and they aren’t sharing it with me.

If DNA testers forget and don’t connect their tree to their DNA results, you’ll see “unlinked tree.”

Like other vendors, Ancestry offers other tools as well, including the ability to define your own colored tags. You can see that I’ve tagged the matches at far right in the gold box with the little colored dots. I was able to define those dots and they have meanings such as common ancestor identified, messaged, etc.

Ancestry Ethnicity

To view your ethnicity estimate, click on “View Your DNA Story.”

Glances Ancestry ethnicity

You’ll see your ethnicity estimate and communities of matches that Ancestry has defined. By clicking on the community, you can see the ancestors in your tree that plot on the map into that community, along with a timeline. Seeing a community doesn’t necessarily mean your ancestor lived there, but that you match a group of people who are from that community.

Sharing Information

You might be thinking to yourself that it would be a lot easier if you could just test at one vendor and share the results in the other databases. Sometimes you can.

There is a central open repository at GedMatch, but clearly not everyone uploads there, so you still need to be in the various vendors’ data bases. GedMatch doesn’t offer testing, but offers additional tools, flexibility and open access not provided by the testing vendors.

Of these four vendors, Family Tree DNA and MyHeritage accept transferred files from other vendors, while Ancestry and 23andMe do not.

Transferring

If you’re interested in transferring, meaning downloading your results from one vendor and uploading to another, I wrote a series of how-to transfer articles here:

Enjoy your new matches and have fun!

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Disclosure

I receive a small contribution when you click on the link to one of the 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 Services

Genealogy Research

Mitochondrial DNA: Part 4 – Techniques for Doubling Your Useful Matches

This article is Part 4 of a series about mitochondrial DNA. I suggest you read these earlier articles in order before reading this one:

This article builds on the information presented in parts 1, 2 and 3.

Hellooooo – Is Anyone Home?

One of the most common complaints about ALL DNA matches is the lack of responses. When using Y DNA, which follows the paternal line directly, passed from father to son, hopefully along with the surname, you can often discern hints from your matches’ surnames.

Not so with mitochondrial DNA because the surname changes with each generation when the female marries. In fact, I often hear people say, “but I don’t recognize those names.” You won’t unless the match is from very recent generations and you know who the daughters married to the present generation.

Therefore, genealogists really depend on information from other genealogists when working with mitochondrial DNA.

Recently, I experimented at Family Tree DNA  to see what I could do to improve the information available. Family Tree DNA is the only vendor that provides full sequence testing combined with matching.

This exercise is focused on mitochondrial DNA matches, but you can use the same techniques for Y DNA as well. These are easy step-by-step instructions!

Let’s get started and see what you can do. You’ll be surprised. I was!

Your Personal Page at Family Tree DNA

mitochondrial personal page

On your personal page, under mtDNA, click on Matches.

Matches

You’ll be viewing your match list of the people who match you at some level.

You’ll see several fields on your match list that you’ll want to use. Many of the bullet points in this article refer to the fields boxed in red or red arrows.

mitochondrial matches

You can click this image to enlarge.

Let’s review why each piece of information is important.

  • Be sure you’re using viewing your matches for the HVR1, HVR2 and Coding region in the red box at the top. Those are your most relevant matches. That’s not to say that you shouldn’t also view your HVR1+HVR2 matches, and your HVR1 matches, because you literally never know what might be there. However, start with the HVR1+HVR2+Coding Region.
  • Focus on your Genetic Distance of 0 matches. Those are exact matches, meaning you have no mutations that don’t match each other. A genetic distance of 1 means that you have one mutation that doesn’t match each other. You can read about Genetic Distance here.
  • Be sure you’re looking at the match results for the entire data base or the project you want to be viewing. For example, if I’m a member of the Acadian AmerIndian project and have Acadian ancestry on my direct matrilineal line, knowing who I match within that project may be extremely beneficial, especially if I need to narrow my results to known Acadian families.
  • Look at the earliest known ancestor (EKA) information. Don’t just let your eyes gloss over it, really look at it. There may be secrets hidden here that are critical for solving your puzzle. The mother of Lydia Brown was discovered by a cousin recently after I had (embarrassingly) ignored an EKA in plain sight for years. You can read about that discovery here.
  • Click on the little blue pedigree icon on your match to view trees that go hand in hand with the earliest known ancestor (EKA) information. Some people provide more information in either the EKA or the tree, so be sure to look at both for hints.

mitochondrial tree

  • If your match’s pedigree icon is grey, they haven’t uploaded their tree. You can always drop them an email explaining how useful trees are and ask them if they will upload theirs.

Utilizing Other Resources

Many people don’t have both trees and an EKA at Family Tree DNA. Don’t hesitate to check Ancestry, MyHeritage or FamilySearch trees with the earliest known ancestor information your match provides if they don’t have a tree, or even if they do to expand their tree. We think nothing of building out trees for autosomal matches – do the same for your matches’ mitochondrial lines.

Finding additional information about someone’s ancestor is also a great ice-breaker for an email conversation. I mean, what genealogist doesn’t want information about their ancestors?

For example, if you match me and I’ve only listed my earliest known ancestor as Ellenore “Nora” Kirsch, you can go to Ancestry and search for her name where you will find several trees, including mine that includes several more generations. Most genealogists don’t limit themselves to one resource, testing company or tree repository.

mitochondrial ancestry tree

WikiTree includes a descendants link for each ancestor that provides a list of people who have DNA tested, including mtDNA. Here’s an example for my ancestor, Curtis B. Lore.

mitochondrial wiki tree

Unfortunately, no one from that line has tested their mitochondrial DNA, but looking at the descendants may provide me with some candidates that descend from his sisters through all females to the current generation, which can be male.

You can do that same type of thing at Geni if you have a tree by viewing that ancestor and clicking on “view a list of living people.”

mitochondrial Geni

While trees at FamilySearch, Ancestry and MyHeritage don’t tell you which lines could be tested for mitochondrial DNA, it’s not difficult to discern. Mitochondrial DNA is passed on by females to the current generation where males can test too – because they received their mitochondrial DNA from their mother.

Family Tree DNA Matches Profiles

Your matches’ profiles are a little used resource as many people don’t realize that additional information may be provided there. You can click on your match’s name to show their profile card.

mitochondrial profile

Be sure to check their “about me” section where I typed “test” as well as their email address which may give you a clue about where the match lives based on the extension. For example, .de is Germany and .se is Sweden.

You can also google their email address which may lead to old Rootsweb listings among other useful genealogical information.

Matches Map

mitochondrial matches map

Next, click on your Matches Map. Your match may have entered a geographical location for their earliest known ancestor. Beware of male names because sometimes people don’t realize the system isn’t literally asking for the earliest known ancestor of ANY line or the oldest ancestor on their mother’s side. The system is asking for the most distant known ancestor on the matrilineal line. A male name entered in this field invalidates the data, of course.

My Matches Map is incredibly interesting, especially since my EKA is from Germany in 1655.

mitochondrial Scandinavia

The white pin shows the location of my ancestor in Germany. The red pins are exact matches, orange are genetic distance of 1, yellow of 2 and so forth.

Note that the majority of my matches are in Scandinavia.

The first question you should be asking is if I’m positive of my genealogical research – and I am. I have proofs for every single generation. The question of paternity is not relevant to mitochondrial DNA, since the identity of the mother is readily apparent, especially in small villages of a few hundred people where babies are baptized by clergy who knows the families well.

Adoptions might be another matter of course, but adoptions as we know them have only taken place in the past hundred years or so. Generally, the child was still baptized with the parents’ names given before the 1900s. Who raised the child was another matter entirely.

Important Note: Your matches map location does NOT feed from your tree. You must go to the Matches Map page and enter that information at the bottom of that page. Otherwise your matches map location won’t show when viewed by your matches, and if they don’t do the same, theirs won’t show on your map.

mitochondrial ancestor location

Email

I KNOW nobody really wants to do this, but you may just have to email as a last resort. The little letter icon on your match’s profile sends an email, or you can find their email in their profile as well.

DON’T email an entire group of people at once as that’s perceived as spam and is unlikely to receive a response from anyone.

Compose a friendly email with a title something like “Mitochondrial DNA Match at Family Tree DNA to Susan Smith.” Many people manage several kits and if you provide identifying information in the title, you’re more likely to receive a response

I always provide my matches with some information too, instead of just asking for theirs.

Advanced Matching

mitochondrial advanced matches

Click on the advanced matching link at the bottom right of the mtDNA area on your personal page.

The Advanced Matches tool allows you to compare multiple types of tests. When looking at your match list, notice if your matches have also taken a Family Finder (FF) test. If so, then the advanced matching tool will show you who matches you on multiple types of tests, assuming you’ve taken the Family Finder test as well or transferred autosomal results to Family Tree DNA.

For example, Advanced Matches will show you who matches you on BOTH the mtDNA and the Family Finder tests. This is an important tool to help determine how closely you might be related to someone who matches you on a mitochondrial DNA test – although here is no guarantee that your autosomal match is through the same ancestor as your mitochondrial DNA match.

mitochondrial advanced matches filter

On the advanced matching page, select the tests you want to view, together, meaning you only want to see results for people who match you on BOTH TESTS. In this case, I’ve selected the full mitochondrial sequence (FMS) and the Family Finder, requested to show only people I match on both tests, and for the entire database. I could select a specific project that I’ve joined if I want to narrow the matches.

Note that if you don’t click the “yes” button you’ll see everyone you match on both tests INDIVIDUALLY, not together. So if you match 50 people on mtDNA and 1000 on Family Finder, you would show 1050 people, not the people who match you on BOTH tests, which is what you want. You might match a few or none on both tests.

Note that if you select “all mtDNA” that means you must match the person on the HVR1, HVR2 and coding region, all 3. That may not be at all what you want either. I select each one separately and run the report. So first, FMS and Family Finder, then HVR2 and Family Finder, etc.

When you’ve made your selection, click on the red button to run the report.

Family Finder Surnames

Another hint you might overlook is Family Finder surnames.

mitochondrial family finder surnames

Go to your Family Finder match list and enter the surname of your matches EKA in the search box to see if you match anyone with that same ancestor. Of course, if it’s Smith or Jones, I’m sorry.

mitochondrial family finder surname results

Entering Kirsch in my Family Finder match list resulting in discovering a match that has Kirsh from Germany in their surname list, but no tree. Using the ICW (in common with) tool, I can then look to see if they match known cousins from the Kirsch line in common with me.

Putting Information to Work

OK, now we’ve talked about what to do, so let’s apply this knowledge.

Your challenge is to go to your Full Sequence match page in the lower right hand corner and download your match list into a spreadsheet by clicking the CSV button.

mitochondrial csv

Column headings when downloaded will be:

  • Genetic Distance
  • Full Name
  • First Name
  • Middle Name
  • Last Name
  • Email
  • Earliest Known Ancestor
  • mtDNA Haplogroup
  • Match Date

I added the following columns:

  • Country
  • Location (meaning within the country)
  • Ancestral Surname
  • Year (meaning their ancestor’s birth/death year)
  • Map (meaning do they have an entry on the matches map)
  • Tree (do they have a tree)
  • Profile (did I check their profile and what did it say)
  • Comment (anything I can add)

This spreadsheet is now a useful tool.

Our goal is to expand this information in a meaningful way.

Data Mining Steps

Here are the steps in checklist format that you’ll complete for each match to fill in additional information on your spreadsheet.

  • EKA (earliest known ancestor)
  • Matches Map
  • Tree
  • Profile
  • Advanced matching
  • Family Finder surname list
  • Email, as a last resort
  • Ancestry, MyHeritage, FamilySearch, WikiTree, Geni to search for information about their EKA

Doubling My Match Information

I began with 32 full sequence matches. Of those, 13 had an entry on the Matches Map and another 6 had something in the EKA field, but not on the Matches Map.

32 matches Map Additional EKA Nothing Useful
Begin 13 on Matches Map 6 but not mapped 13
End 29 remapped on Google 5 improved info 3

When I finished this exercise, only 3 people had no usable information (white rows), 29 could be mapped, and of the original 13 (red rows), 5 had improved information (yellow cells.)

mitochondrial spreadsheet

Please note that I have removed the names of my matches for privacy reasons, but they appear as a column on my original spreadsheet instead of the Person number.

Google Maps

I remapped my matches from the spreadsheet using free Google Maps.

mitochondrial Google maps

Purple is my ancestor. Red are the original Matches Map ancestors of my matches. Green are the new people that I can map as a result of the information gleaned.

The Scandinavian clustering is even more mystifying and stronger than ever.

Add History

Of course, there’s a story here to be told, but what is that story? My family records are found in Germany in 1655, and before that, there are no records, at least not where my ancestors were living.

Clearly, from this map and also from comparing the mutations of my matches that answered my emails, it’s evident that the migration path was from Scandinavia to Germany and not vice-versa.

How did my ancestor get from Scandinavia to Germany?

When and why?

Looking at German history, there’s a huge hint – the Thirty Years’ War which occurred from 1618-1648. During that war, much of Germany was entirely depopulated, especially the Palatinate.

Looking at where my ancestor was found in 1655 (purple pin), and looking at the Swedish troop movements, we see what may be a correlation.

mitochondrial Swedish troop movements

In the first few generations of church records, there were several illegitimate births and the mother was referred to as a servant woman.

It’s possible that my Scandinavian ancestor came along with the Swedish army and she was somehow left behind or captured.

The Challenge!

Now, it’s your turn. Using this article as a guideline, what can you find? Let me know in a comment. If you utilize additional resources I haven’t found, please mention those too!

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Disclosure

I receive a small contribution when you click on the link to one of the 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 Services

Genealogy Research

Identifying Unknown Parents and Individuals Using DNA Matching

There have been a lot of questions recently about the methodology used by people searching for unknown parents and other unidentified individuals. I covered this technique in concept recently at a conference as part of an overview presentation. In this article, I’m addressing only this topic and in more detail.

What is the methodology that genealogists use to identify unknown parents? It’s exactly the same process used to identify unknown Does, meaning unidentified bodies as well as violent criminals who have left DNA, such as blood or semen, at a crime scene.

How is Identifying Unknown Individuals Different from Genealogy?

Genealogists are interested in discovering their ancestors. Generally, genealogists know who their parents are and most of the time, their grandparents as well. Not very many people can tell you the names of their great-grandparents off the top of their head – not unless they ARE genealogists😊

Genealogists interview family members and access family sources, such as photos, Bibles, boxes of memorabilia and often extend their family another generation or two using these resources. Then, to gather additional information, genealogists turn to publicly available sources such as:

Constructing a Tree

Genealogists utilize software to create trees of their ancestors, either on their own computers with software such as Family Tree Maker, Legacy, RootsMagic or the free tree building software from MyHeritage. They then either synchronize or duplicate their tree on the public sites mentioned above which provide functionality such as “hints” that point to documents relevant to the ancestors in their tree. Additionally, they can access the trees of other genealogists who are researching the same ancestors. This facilitates the continued growth of their tree by adding ancestors and extending the tree back generations.

While tree-building is the goal of genealogists, the trees they build are important tools for people seeking to identify unknown individuals.

The Tree

Generations tree

In my tree, shown in the format of a pedigree chart, above, you can see that I’ve identified all 16 of my great-great-grandparents. In reality, because I’ve been a genealogist for decades, I’ve identified many more of my ancestors which are reflected in my tree on my computer and in my trees at both Ancestry and MyHeritage where I benefit from hints and DNA matches.

Genealogical pedigree charts are typically represented with the “home person,” me, in this case at the base with my ancestors branching out behind them like a lovely peacock’s tail.

While I’m looking for distant ancestors, adoptees and others seeking the identities of contemporary people are not looking back generations, but seek to identify contemporary generations, meaning people who are alive or lived very recently, typically within a generation.

Enter the world of genetics and DNA matching.

Genetics, The Game Changing Tool

Before the days of DNA testing, adoptees could only hope that someone knew the identify of their biological parents, or that their biological parents registered with a reunion site, or that their court records could be opened.

DNA testing changed all of that, because people can now DNA test and find their close relatives. As more people test, the better the odds of actually having a parent or sibling match, or perhaps a close relative like an aunt, uncle or first cousin. My closest relative that has tested that I didn’t know was testing is my half-sister’s daughter.

You share grandparents with your first cousin, and since you only have 4 grandparents, it’s not terribly difficult to figure out which set of grandparents you connect to through that first cousin – especially given the size of the databases and the number of matches that people have today.

The chart below shows my matches as of June 2019.

Vendor

Total Matches

Second Cousin or Closer

Family Tree DNA

4,609

18

MyHeritage

9,644

14

23andMe

1,501

5

Ancestry

80,151

8

You can see that I have a total of 45 close matches, although some of those matches are duplicates of each other. However, each database has some people that are only in that database and have not tested at other companies or transferred to other databases.

Situations like this are exactly why people who are searching for unknown family members take DNA tests at all 4 of the vendors.

Stories were once surprising about people who tested and either discover a previously unknown close relative, or conversely discovered that they are not related to someone who they initially believed they were. Today these occurrences are commonplace.

Matches

If you’re searching for an unknown parent or close relative, you just might be lucky to receive a parental, sibling, half-sibling or uncle/aunt match immediately.

An estimated relationship range is provided by all vendors based on the amount of DNA that the tester shares with their match.

Generations Family Tree DNA matches

My mother’s match page at Family Tree DNA is shown above. You can see that I’m Mother’s closest match. My known half brother did not test before he passed away, and mother’s parents are long deceased, so my mother should NEVER have another match this close.

So, who is that person in row 2 that is also predicted to be a mother or daughter? I took a test at Ancestry and uploaded my results to Family Tree DNA for research purposes, so this is actually my own second kit, but for example purposes, I’ve renamed myself “Example Adoptee.” Judging from the photo here, apparently my “adopted” sibling was a twin😊

If the adoptee tested at Family Tree DNA, she would immediately see a sibling match (me) and a parent match (Mom.) A match at that cM (centiMorgan) level can only be a parent or a child, and the adoptee knows whether she has a child or not.

Let’s look at a more distant example, which is probably more “typical” than immediately finding a parent match.

Let’s say that the “male adoptee” at the bottom in the red box is also searching for his birth family. He matches my mother at the 2nd-3rd cousin level, so someplace in her tree are his ancestors too.

People who have trees are shown with gold boxes around the tiny pedigree icons, because they literally are trees of gold.

Because of Family Tree DNA’s “bucketing” tool, the software has already told my Mother that the male adoptee is a match on her father’s side of her tree. The adoptee can click on the little pedigree icon to view the trees of his matches to view their ancestors, then engage in what is known as “tree triangulation” with his other close matches.

From the Perspective of the Adoptee

An adoptee tests not knowing anything about their ancestors.

Generations adoptee

When their results come back, the adoptee, in the red box in the center, hoping to identify their biological parents, discovers that their closest matches are the testers in the pink and blue ovals.

The adoptee does NOT know that these people are related to each other at this point, only that these 7 people are their closest matches on their match list.

The adoptee has to put the rest of the story together like a puzzle.

Who Matches Each Other?

In our scenario, test takers 2, 3 and 8 don’t match the adoptee, so the adoptee will never know they tested and vice versa. Everyone at a second cousin level will match each other, but only some people will match at more distant relationships, according to statistics published by 23andMe:

Relationship Level

Percentage of People Who Match

Parents, siblings, aunts, uncles, half siblings, half aunts/uncles and 1st cousins

100%

2nd cousins

>99%

3rd cousins

90%

4th cousins

45%

5th cousins

15%

6th cousins and more distant

<5%

You can view a detailed chart with additional relationships here.

Tree Triangulation

By looking at the individual trees of test taker 1, 4 and 5 whom they match, the adoptee notices that John and Jane Doe are common ancestors in the trees of all 3 test takers. The adoptee may also use “in common with” tools provided by each vendor to see who they match “in common with” another tester. In this case, let’s say that test taker 1, 4 and 5 also match each other, so the adoptee would also make note of that, inferring correctly that they are members of the same family.

The goal is to identify a common ancestor of a group of matches in order to construct the ancestor’s tree, not a pedigree chart backwards in time, as with genealogy, but to construct a descendants’ tree from the ancestral couple to the current day, as completely as possible. After all, the goal is to identify the parent of the adoptee who descends from the common ancestor.

Generations adoptee theory

In this case, the adoptee realized that the pink test takers descended from John and Jane Doe, and the blue test takers descended from Walter and Winnie Smith, and constructed descendant trees of both couples.

The adoptee created a theory, based on the descendants of these two ancestral couples, incorporating other known facts, such as the year when the adoptee was born, and where.

In our example, the adoptee discovered that John and Jane Doe had another daughter, Juanita, whose descendants don’t appear to have tested, and that Juanita had a daughter who was in the right place at the right time to potentially be the mother of the adoptee.

Conversely, Walter and Winnie Smith had a son whose descendants also appear to have not tested, and he had a son who lived in the same place as Juanita Doe. In other words, age, opportunity and process of elimination all play a role in addition to DNA matches. DNA is only the first hint that must be followed up by additional research.

At this point, if the adoptee has taken either Y or mitochondrial DNA testing, those results can serve to either include or exclude some candidates at Family Tree DNA. For example, if the adoptee was a male and matched the Y DNA of the Smith line, that would be HUGE hint.

From this point on, an adoptee can either wait for more people to test or can contact their matches hoping that the matches will have information and be helpful. Keep in mind that all the adoptee has is a theory at this point and they are looking to refine their theory or create a new one and then to help narrow their list of parent candidates.

Fortunately, there are tools and processes to help.

What Are the Odds?

One helpful tool to do this is the WATO, What Are the Odds statistical probability tools at DNAPainter.

Using WATO, you create a hypothesis tree as to how the person whose connection you are seeking might be related, plugging them in to different tree locations, as shown below.

Generations WATO

This is not the same example as Smith and Doe, above, but a real family puzzle being worked on by my cousin. Names are blurred for privacy, of course.

Generations WATO2

WATO then provides a statistical analysis of the various options, with only one of the above hypothesis being potentially viable based on the level of DNA matching for the various hypothetical relationships.

DNAPainter Shared cM Tool

If your eyes are glazing over right about now with all of these numbers flying around, you’re not alone.

I’ll distill this process into individual steps to help you understand how this works, and why, starting with another tool provided by DNAPainter, the Shared cM tool that helps you calculate the most likely relationship with another person.

The more closely related you are to a person, the more DNA you will share with them.

DNAPainter has implemented this tool based on the results of Blaine Bettinger’s Shared cM Project where you can enter the amount of DNA that you share with someone to determine the “best fit” relationship, on average, plus the range of expected shared DNA.

Generations DNAPainter Shared cM Project

You, or the test taker, are in the middle and the relationship ranges surround “you.”

For example, you can clearly see that the number of cMs for my Example Adoptee at 3384 is clearly in the Parent or Child range. But wait, it could also be at the very highest end of a half sibling relationship. Other lower cM matches are less specific, so another feature of the DNAPainter tool is a life-saver.

At the top of the page, you can enter the number of matching cMs and the tool will predict the most likely results, based on probability.

Generations 3384

The relationship for 3384 cMs is 100% a parent/child relationship, shown above, but the sibling box is highlighted below because 3384 is the very highest value in the range. This seems to be a slight glitch in the tool. We can summarize by saying that it would be extremely, extremely rare for a 3384 cM match to be a full sibling instead of a parent or child. Hen’s teeth rare.

Generations parent child

Next, let’s look at 226 cM, for our male adoptee which produces the following results:

Generations 226

The following chart graphically shows the possible relationships. The “male adoptee” is actually Mom’s second cousin. This tool is quite accurate.

Generations 226 chart

Now that you’ve seen the tools in action, let’s take a look at the rest of the process.

The Steps to Success

The single biggest predictor of success identifying an unknown person is the number of close matches. Without relatively close matches, the process gets very difficult quickly.

What constitutes a close match and how many close matches do adoptees generally have to work with?

If an adoptee matches someone at a 2nd or 3rd cousin level, what does that really mean to them?

I’ve created the following charts to answer these questions. By the way, this information is relevant to everyone, not just adoptees.

In the chart below, you can view different relationships in the blue legs of the chart descending from the common ancestral couple.

In this example, “You” and the “Other Tester” match at the 4th cousin level sharing 35 cM of DNA. If you look “up” the tree a generation, you can see that the parents of the testers match at the 3rd cousin level and share 74 cM of DNA, the grandparents of the testers match at the 2nd cousin level and share 223 cM of DNA and so forth.

Generations relationship table

In the left column, generations begin being counted with your parents as generation 1. The cumulative number of direct line relatives you have at each generation is shown in the “# Grandparents” column.

Generations relationship levels

Here’s how to read this chart, straight across.

Viewing the “Generation” column, at the 4th generation level, you have 16 great-great-grandparents. Your great-great-grandparent is a first cousin to the the great-great-grandparent of your 4th cousin. Their parents were siblings.

Looking at it this way, it might not seem too difficult to reassemble the descendancy tree of someone 5 generations in the past, but let’s look at it from the other perspective meaning from the perspective of the ancestral couple.

Generations descendants

Couples had roughly 25 years of being reproductively capable and for most of history, birth control was non-existent. If your great-great-great-grandparents, who were born sometime near the year 1800 (the births of mine range from 1785 to 1810) had 5 children who lived, and each of their descendants had 5 children who lived, today each ancestral couple would have 3,125 descendants.

If that same couple had 10 children and 10 lived in each subsequent generation, they would have 100,000 descendants. Accuracy probably lies someplace in-between. That’s still a huge number of descendants for one couple.

That’s JUST for one couple. You have 32 great-great-great-grandparents, or 16 pairs, so multiply 16 times 3,125 for 50,000 descendants or 100,000 times 16 for…are you ready for this…1,600,000 descendants.

Descendants per GGG-grandparent couple at 5 generations Total descendants for 16 GGG-grandparent couples combined
5 children per generation 3,125 50,000
10 children per generation 100,000 1,600,000

NOW you understand why adoptees need to focus on only close matches and why distant matches at the 3rd and 4th cousin level are just too difficult to work with.

By contrast, let’s look at the first cousin row.

Generations descendants 1C.png

At 5 descendants per generation, you’ll have 25 first cousins or 100 first cousins at 10 descendants per generation.

Generations descendants 2C

At second cousins, you’ll have 125 and 1,000 – so reconstructing these trees down to current descendants is still an onerous task but much more doable than from the third or fourth cousin level, especially in smaller families.

The Perfect Scenario

Barring a fortuitous parent or sibling match, the perfect scenario for adoptees and people seeking unknown individuals means that:

  • They have multiple 1st or 2nd cousin matches making tree triangulation to a maternal and paternal group of matches to identify the common ancestors feasible.
  • Their matches have trees that allow the adoptee to construct theories of how they might fit into a family.

Following the two steps above, when sufficient matching and trees have been assembled, the verification steps begin.

  • Adoptees hope that their matches are responsive to communications requesting additional information to either confirm or refute their relationship theory. For example, my mother could tell the male adoptee that he is related on her father’s side of the family based on Family Tree DNA‘s parental “side” assignment. Based on who else the adoptee matches in common with mother, she could probably tell him how he’s related. That information would be hugely beneficial.
  • In a Doe situation where the goal is to identify remains, with a relatively close match, the investigator could contact that match and ask if they know of a missing family member.
  • In a law enforcement situation where strong close-family matches that function as hints lead to potential violent crime suspects, investigators could obtain a piece of trash discarded by the potential suspect to process and compare to the DNA from the crime scene, such as was done in the Golden State Killer case.

If the discarded DNA doesn’t match the crime scene DNA, the person is exonerated as a potential suspect. If the discarded DNA does match the crime scene DNA, investigators would continue to gather non-DNA evidence and/or pick the suspect up for questioning and to obtain a court ordered DNA sample to compare to the DNA from the crime scene in a law enforcement database.

Sometimes DNA is a Waiting Game

I know that on the surface, DNA matching for adoptees and unknown persons sounds simple, and sometimes it is if there is a very close family match.

More often than not, trying to identify unknown persons, especially if the tester doesn’t have multiple close matches is much like assembling a thousand-piece puzzle with no picture on the front of the box.

Sometimes simply waiting for a better match at some point in the future is the only feasible answer. I waited years for my brother, Dave’s family match. You can read his story here and here.

DNA is a waiting game.

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Disclosure

I receive a small contribution when you click on the link to one of the 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 Services

Genealogy Research

Exciting New Y DNA Haplogroup D Discoveries!

Haplogroup D is a very old branch of Y-DNA that has remained rather mysterious. It has been uncertain where haplogroup D was born – in Africa, Asia or elsewhere – and when. It’s always fascinating when new research sheds light on the early history of humanity – discovered through people living and testing today.

In the current issue of Genetics, the article A Rare Deep-Rooting African Y-chromosomal Haplogroup and its Implications for the Expansion of Modern Humans Out of Africa by Haber et al appeared.

Their abstract:

Present-day humans outside Africa descend mainly from a single expansion out ∼50,000-70,000 years ago, but many details of this expansion remain unclear, including the history of the male-specific Y chromosome at this time. Here, we re-investigate a rare deep-rooting African Y-chromosomal lineage by sequencing the whole genomes of three Nigerian men described in 2003 as carrying haplogroup DE* Y-chromosomes, and analyzing them in the context of a calibrated worldwide Y-chromosomal phylogeny. We confirm that these three chromosomes do represent a deep-rooting DE lineage, branching close to the DE bifurcation, but place them on the D branch as an outgroup to all other known D chromosomes, and designate the new lineage D0. We consider three models for the expansion of Y lineages out of Africa ∼50,000-100,000 years ago, incorporating migration back to Africa where necessary to explain present-day Y-lineage distributions. Considering both the Y-chromosomal phylogenetic structure incorporating the D0 lineage, and published evidence for modern humans outside Africa, the most favored model involves an origin of the DE lineage within Africa with D0 and E remaining there, and migration out of the three lineages (C, D and FT) that now form the vast majority of non-African Y chromosomes. The exit took place 50,300-81,000 years ago (latest date for FT lineage expansion outside Africa – earliest date for the D/D0 lineage split inside Africa), and most likely 50,300-59,400 years ago (considering Neanderthal admixture).

Haplogroup DE was and is very rare. Because of its rarity, and that it had initially been reported in one man from Guinea-Bissau in West Africa and two Tibetans, it was unclear where DE originated, or when.

This new paper sequenced three men from Africa and five from Tibet.

D Splits

The result of the paper is that the authors confirm that the DE lineage split consists of three branches:

  • E which is “mainly African” which we’ve known for a long time
  • D0 which is exclusively African with the 3 Nigerian samples being within 2500 years of each other
  • D which is exclusively non-African

To calibrate the branch length between any two samples when calculating split times, the authors multiplied the number of derived variants (mutations) found in the first sample but absent from the record, meaning previously unknown.

In supplementary table S2, they recalculate the splits between the various haplogroups. I found the table confusing to read, so I reached out to Goran Runfeldt who heads the scientific research team at Family Tree DNA to make this simpler.

I knew from previous discussions with the team that they had split the haplogroup D line internally to reflect a new branch at the time they named D-FT75 and subsequently D-FT76, and they were waiting for verification from multiple tests before splitting the line further.

Haplogroup D root and split

On the Family Tree DNA block tree, above, you can see the D split between D-F974 which is the main haplogroup D root (navy blue) which then splits into D-M174 which is the old line referred to as Haplogroup D, and the new D0/D2/D-FT75 lineage, both in lighter blue. You can see the public tree, here.

Goran explained that Family Tree DNA has actually found multiple lineages in what the authors call D0, which ISOGG calls D2 and Family Tree DNA refers to by the defining SNP as D-FT75.

If you’re like me, looking at this information in pedigree format is easier to comprehend.

I asked Goran and Big Y haplotree guru, Michael Sager if they could create something easy to understand. You can see them working together in this photo. Thanks guys!

Goran Runfeldt and Michael Sager

The Haplogroup D Tree

Note that the following graphic is NOT TO TIME SCALE. Currently tested, unplaced and and pending samples are at the bottom.

Haplogroup D Family Tree DNA diagram

In the chart above, haplogroups in red at the top are the base haplogroups, not refined by the paper. Green is the already known upper structure of haplogroup D. Tan is the haplogroup D structure being refined by Family Tree DNA. The blue group is the Nigerian structure from the paper.

Divergence times as quoted in the paper are noted. For example, the time between the split between CT and BT, according to the paper, is approximately 101.1 thousand years ago. (kya means thousands of years ago)

How the D-FT75 Branch was Discovered

At the end of 2018, Family Tree DNA published the first SNPs from the new haplogroup D lineage to the ISOGG SNP index. During 2019, additional SNPs have been added, including the new haplogroup D lines of D-FT75 and D-FT76.

I asked Michael Sager how he made that discovery.

When a customer purchases an STR test, if Family Tree DNA cannot reliably predict a haplogroup, they will run a backbone test, at no additional charge to the customer, to test enough SNPs to at least call a base level haplogroup, such as R-M269.

In this case, Family Tree DNA ran a backbone test on a customer’s Y DNA and the result came back as something Michael had never seen before – haplogroup CT, but no subgroup. As you’ve already noticed, haplogroup CT is far up the tree and Michael needed more information.

Michael said that he knew the only possible options were:

  • CT* – where star means there is no subgroup. An individual with no CT subgroup has never been found, to date
  • A lineage that breaks CT into a further haplogroup
  • Haplogroup DE*
  • A lineage that breaks haplogroup DE into further branches
  • A lineage that breaks haplogroup D into further branches
  • A lineage that breaks haplogroup E into further branches

After the backbone results were returned, Family Tree DNA contacted the customer and asked permission to run a Big Y test. The result was the discovery and naming of D-FT75 and D-FT76 which split D, twice, into new subgroups.

Further testing has verified the haplogroup D-FT76 finding in another Saudi Arabian male. Two additional haplogroup D males have results pending – one from Syria and one from another part of the world.

We now know that indeed the new branch of D, D0/D2/D-F75 has been found outside Africa, specifically in Saudi Arabia. It’s possible that there are more than two distinct lineages. We’ll know more as pending results come back from the lab.

However, what can be added is that according to the paper, the age of haplogroup D to the Nigerian samples is 71,400 years. The Family Tree DNA calculations based on the total number of 702 SNPs at 100 years per SNP suggest that the age is 70,200, which is very close to the 71,400 age in the paper. Additionally, because of the haplogroup FT75 and FT76 split, we can estimate the age of the divergence of those two lines with 261 SNPs between them at between 26,000 and 26,500 years, using these two calculation methods.

To quote Michael Sager, it’s “pretty neat to find a 20,000+-year-old NEW branch off of a 70,000+-year-old NEW branch.” I’d certainly agree!

Family Tree DNA would also like to place the Nigerian samples precisely on the tree.

In the supplemental data, the paper provided a list of the HG19 SNPs that are positive, including the positions for both D-FT75 and D-FT76, but did not list the SNPs that were negative. In order for Family Tree DNA to assign the Nigerian samples from the paper precisely to a branch, they need the BAM file because they need to see positive, negative and no-call SNPs. Family Tree DNA would also need to convert the results from build HG19, used by the authors, to current HG38.

What About You?

If you’re a male and have taken a Y STR test, meaning the 12, 25, 37, 67 or 111 marker test and you do not have a predicted haplogroup, please contact support at Family Tree DNA.

The best thing you can do, if you haven’t Y DNA tested, is to actually take a Y DNA test at Family Tree DNA. You can start out with the STR marker test which provides you with STR marker results, matching to other males and a haplogroup prediction.

Many individuals also purchase the Big Y-700 test which provides a very granular haplogroup – the most detailed possible, matching and at least 700 STR marker results – in addition to revealing never before discovered SNPs. Without the Big Y test, D-FT75 and D-FT76 and most of the 150,000 Y SNPs would not yet be discovered. This is the only test that can make new discoveries like this.

To summarize, you can be a part of scientific discovery if you’re a male (only males have Y chromosomes) by either:

  • Testing your Y DNA by taking a 37, 67 or 111 marker test
  • Ordering or upgrading to the Big Y-700 test

You can click here to order or upgrade.

______________________________________________________________

Disclosure

I receive a small contribution when you click on the link to one of the 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 Services

Genealogy Research

DNA Testing the Recently Deceased

No one really want to think about this, but it happens.

You’ve always meant to DNA test someone, and they’ve agreed, but either you didn’t order the kit, or the kit is far away from where they passed away.

What can you do?

Take heart, all is not lost. You have two options.

Swabbing the dead

Swabbing the Deceased

Some funeral homes work with companies for DNA preservation and other services, but these services do not provide you with genealogy results from any of the major vendors and are processed by the lab associated with the company whose kit the funeral home is selling.

For genealogy, you have two options.

  1. Call Family Tree DNA (713-868-1438 9-5 CST) and have them overnight you a swab kit. The funeral director can swab the inside of their cheek and generally, funeral directors do a great job. You may want to ask for extra vials to be included in the overnight package, just in case. This is your last (and only) chance.
  2. If you don’t have time or aren’t in a location where you can receive an overnight delivery, purchase an Identigene paternity test kit at any CVS or similar drugstore. That kit will cost you about $27 for the kit alone, but the kit contains sterile swabs and a sterile pouch for inserting the swabs after swabbing the inside of the cheek. DO NOT SEND THE SWABS TO IDENTIGENE. Instead, call Family Tree DNA and explain that you are sending the Identigene swabs to their lab for processing. They will provide you with instructions and you must obtain approval before sending non-standard swabs for processing.

Caveats and Alternatives

  • Cheek swabbing must occur before embalming because embalming fluid interferes with DNA processing, per Dr. Connie Bormans, lab director at GenebyGene.
  • Per my friendly mortician, if you’re desperate and embalming has occurred, another area where some have achieved swabbing success is the crease behind the ear lobe where skin cells tend to become trapped if the body has not already been cleaned in that area. At this point, you have nothing to lose by trying.
  • Please note that sometimes “overnight” is not actually overnight. I attempted to overnight something across the Memorial Day weekend and “overnight” in that case was actually Friday to Tuesday for all carriers. If you are in a pickle, be aware of delivery constraints surrounding weekends, holidays and perhaps a very remote location.

Ordering

After the kit is returned to Family Tree DNA for processing, you can order the regular suite of tests. I would suggest that you order all the tests you actually want initially, because the quantity and/or quality of the DNA sample may be questionable.

In other words, later upgrades may not be successful. I had that situation occur with my aunt’s mitochondrial DNA test results. The initial mtPlus test was successful, but her sample could not be upgraded to either the mitochondrial full sequence or Family Finder.

Three Data Bases in One Test

While you can’t obtain a spit sample from a deceased person for other autosomal tests, you can transfer the person’s autosomal DNA results to both GedMatch and MyHeritage for additional matching after processing.

Hopefully you’ll never find yourself in this difficult situation, but if you do, you have options.

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Disclosure

I receive a small contribution when you click on some (but not all) 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 Services

Genealogy Research

Mitochondrial DNA: Part 3 – Haplogroups Unraveled

This is the third article in a series about mitochondrial DNA.

The first two articles are:

This third article focuses on haplogroups. They look so simple – a few letters and numbers – but haplogroups are a lot more sophisticated than they appear and are infinitely interesting!

What can you figure out about yours and what secrets will it reveal? Let’s find out!

What is a Haplogroup?

A haplogroup is a designation that you can think of as your genetic clan reaching far back in time.

My mitochondrial haplogroup is J1c2f, and I’ll be using this as an example throughout these articles.

The description of a haplogroup is the same for both Y and mitochondrial DNA, but the designations and processes of assigning haplogroups are different, so the balance of this article only refers to mitochondrial DNA haplogroups.

Where Did I Come From?

Every haplogroup has its own specific history.

mitochondrial migration map link.png

Looking at my DNA Migration Map at Family Tree DNA, I can see the path that haplogroup J took out of Africa.

mitochondrial migration map j.png

This map is interactive on your personal page, so you can view your or any other haplogroup highlighted on the map.

mitochondrial frequency map J.png

On the frequency tab of the Migration Map, you can view the frequency of your haplogroup in any specific location.

mitochondrial results tab

On my Results tab, I’m provided with this information:

The mitochondrial haplogroup J contains several sub-lineages. The original haplogroup J originated in the Near East approximately 50,000 years ago. Within Europe, sub-lineages of haplogroup J have distinct and interesting distributions. Haplogroup J1 is found distributed throughout Europe, from Britain to Iberia and along the Mediterranean coast. This widespread distribution strongly suggests that haplogroup J1 was part of the Neolithic spread of agriculture into Europe from the Near East beginning approximately 10,000 years ago.

Stepping-Stones back in Time

The haplogroup designation itself is a stepping-stone back in time.

Looking at my full haplogroup, J1c2f, we see 5 letters or numbers.

The first letter, J, is my base haplogroup, and each letter or digit after that will be another step forward in time from the “mother” haplogroup J.

Therefore, 1 is a major branch of haplogroup J, c is a smaller branch sprouting off of J1, 2 is a branch off of J1c, and f is the last leaf, at least for now.

Ages

In the supplementary data for the article, A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root, by Doron M Behar et al, published in the Journal of Human Genetics on April 6, 2012, he provides age estimates for the various haplogroups and subhaplogroups identified at that time.

My haplogroup breakdown is shown below.

Haplogroup

Time Estimate (Years) SD (standard deviation in years)
J 34,258.3 4886.2
J1 26,935.1 5272.9
J1c 13,072.3 1919.3
J1c2 9762.5 2010.7
J1c2f 1926.7

3128.6

  • Time estimate means how long ago this haplogroup was “born,” meaning when that haplogroup’s defining mutation(s) occurred.
  • SD, standard deviation, can be read as the range on either side of the time estimate, with the time estimate being the “most likely.” Based on this, the effective range for the birth of haplogroup J is 29,372.1 – 39,144.5. In some of the most current haplogroups, like J1c2f, the lowest age range is a negative number, which obviously can’t happen. This sometimes occurs with statistical estimates.

The first question you’re going to ask is how can these age estimates be so precise? The answer is that these are statistical calculations – because we can’t travel back in time.

What Came Before J?

Clearly J is not Mitochondrial Eve, so what came before J?

In the paper announcing the latest version (Build 17) of the Phylotree by van Oven, meaning the haplotree for mitochondrial DNA, this pedigree style tree was drawn to show the backbone plus 25 subtrees.

mitochondrial Build 17 tree.png

Haplogroup J descended from JT, fourth from right on the bottom right.

The MRCA, most recent common ancestor at the root of the tree would be the RSRS (Reconstructed Sapiens Reference Sequence), known colloquially as Mitochondrial Eve.

Branches and Names

Haplogroups were named in the order they were discovered, using the alphabet, A-Z (except O). Branches are indicated by subsequent numbers and letters. Build 17 of the phylogenetic tree includes 5437 branches, increasing from 4809 in build 16.

Occasionally branches are sawed off and reconnected elsewhere, which sometimes plays havoc with the logical naming structure because they are renamed completely on the new branch. This happened when haplogroup A4 was retired in Build 17 and is now repositioned on the tree as haplogroup A1. I wrote about this in the article, Family Tree DNA’s Mitochondrial Haplotree.

It’s easier to see the branching tree structure if you look at the public mitochondrial haplotree on the Family Tree DNA website. Scroll to the very bottom of the main Family Tree DNA page, here, and click on mtDNA haplotree.

Mitochondrial mtDNA haplotree.png

You can search for your haplogroup name and track your ancestral haplogroups back in time.

mitochondrial J1c2f search.png

J1c2f is shown below on the tree, with haplogroup J at the top.

mitochondrial J1c2f tree

Click to enlarge

Where in the World?

Whether you’ve tested at Family Tree DNA or not, you can view this tree and you can see the location of the earliest known ancestor of people who have tested, agreed to sharing and have been assigned to your haplogroup.

You can mouse over the little flag icons or click on the 3 dots to the right for a country report.

mitochondrial country.png

The country report details the distribution of  the earliest known ancestors where people on that branch, and those with further subbranches are found.

mitochondrial country report J1c2f

You can click to enlarge the image.

J1c2f is the lowest leaf on this branch of the tree, for now, so there is no difference in the columns.

However, if we look at the country report for haplogroup J1c2, the immediate upstream haplogroup above J1c2f, you can see the differences in the columns showing people who are members of haplogroup J1c2 and also downstream branches.

Mitochondrial country report J1c2

Click to enlarge the image.

I wrote more about how to use the new public tree here.

Haplogroup Assignment Process

There’s a LOT of confusion about haplogroup assignments, and how they are generated.

First, the official mitochondrial tree is the Phylotree, here. Assigning new haplogroups isn’t cut and dried, nor is it automated today. The Phylotree has been the defacto location for multiple entities to combine their information, uploading academic samples to GenBank, a repository utilized by Phylotree for all researchers to use in the classification efforts. You can read more about GenBank here. Prior to Phylotree, each interested entity was creating their own names and the result was chaotic confusion.

Individuals who test at Family Tree DNA can contribute their results, a process I’ll cover in a future article.

The major criteria for haplogroup assignments are:

  • Three non-familial sequences that match exactly. Family mutations are considered “private mutations” at this time.
  • Avoidance of regions that are likely to be unstable (such as 309, 315 and others,) preferably using coding region locations which are less likely to mutate.
  • Evaluating whether transitions, transversions and reversions are irrelevant events to haplogroup assignment, or whether they are actually a new branch. I covered transitions, transversions and reversions here.

Periodically, the Phylotree is updated. The current version is Build 17, which I wrote about here.

The Good, the Bad and the Ugly

While change and scientific progress is a good thing, it also creates havoc for the vendors.

For each vendor to update your haplogroup, they have to redo their classification algorithm behind the scenes, of course, then rerun their entire customer database against the new criteria. That’s a huge undertaking.

In IT terms, haplogroups are calculated and stored one time for each person, not calculated every time you access your information. Therefore, to change that data, a recalculation program has to be run against millions of accounts, the information stored again and updating any other fields or graphics that require updating as a result. This is no trivial feat and is one reason why some vendors skip Phylotree builds.

When you’re looking at haplogroups at different vendors, it’s important to find the information on your pages there that identify which build they are using.

Vendors who only test a few locations in order to assign a base or partial haplogroup may find themselves in a pickle. For example, if a new Phylotree build is released that now specifies a mutation at a location that the vendor hasn’t tested, how can they upgrade to the new build version? They can’t, or at least not completely accurately.

This is why full sequence testing is critically important.

Haplogroup Defining Mutations

Build 17 example

Using the Build 17 table published by Family Tree DNA that identifies the mutations required to assign an individual to a specific haplogroup or subhaplogroup, you can determine why you were assigned to a specific haplogroup and subgroups.

Mutations in Different Haplogroups are Not Equal

What you can’t do is to take mutations out of haplogroup context for matching.

Let’s say that someone in haplogroup H and haplogroup J both have a mutation at location G228A.

mitochondrial mutation comparison.png

That does NOT mean these two people match each other genealogically. It means that the two different branches of the mitochondrial tree, haplogroup J and haplogroup H individually developed the same mutation, by chance, over time. In other words, parallel, disconnected mutations.

It may mean that both individuals simply happen to have the same personal mutations, or, it could mean that eventually these values could become haplogroup defining for a new branch in one or the other haplogroup.

How Common Are Parallel Mutations?

From the Build 17 paper again, this table shows us the top recurrent mutations after excluding insertions, deletions and location 16519. We see that 197 different branches of the tree have mutation T152C. My branch is one of those 197.

Mitochondrial build 17 mutation frequency.png

I think you can see, with location T152C being found in 197 different branches of the Pylotree why the only meaningful match between two people is within specific haplogroup subclades.

Within a haplogroup, this means that two people match on T152C PLUS all of the upstream haplogroup defining markers. Outside of a haplogroup, it’s just a chance parallel mutation in both lines.

Therefore, if another person in haplogroup J1c2f and I match a mutated value at the same location, that could be a very informative piece of genealogical information.

Partial and Full Haplogroups

Some vendors, such as 23andMe and LivingDNA provide customers with partial haplogroups as a part of their autosomal offering.

Family Tree DNA (full haplogroup) 23andMe LivingDNA
J1c2f J1c2 J1c

23andMe and LivingDNA provide partial haplogroups because they are not testing all of the 16,569 locations of the mitochondrial DNA. They are using scan technology on a chip that also processes autosomal DNA, so the haplogroup assignment is basically an “extra” for the consumer. Each chip location they use for mitochondrial (or Y) DNA testing for haplogroups is one less location that can be used for autosomal testing.

Therefore, these companies utilize what is known as target testing. In essence, they test for the main mutations that allow them to classify people into major haplogroups. For example, you can see that LivingDNA tests the mutations through the J1c level, but not to J1c2, and 23andMe tests to J1c2 but not J1c2f. If they tested further, my haplogroup designation would be J1c2f, not J1c or J1c2.

For full sequence testing, complete haplogroup designation and matching, I need to test at Family Tree DNA. They are the only vendor that provides the complete package.

Matching

mitochondrial matches link.png

Family Tree DNA provides matching of customer results. Consumers can purchase the mtPlus product, which tests only the HVR1/HVR2 portion of the mitochondria, or the mtFull product which tests the entire mitochondria. I recommend the mtFull.

In addition to haplogroup information, customers receive a list of people who match them on their mitochondrial sequence.

mitochondrial matches result

Click to enlarge

Matches with genealogical information allow customers to make discoveries such as this location information, provided by Lucille, above:

mitochondrial villages map.png

Lucille’s earliest known ancestor, according to her tree, is found just 12.6 km, or 7.8 miles from the tiny German village where my ancestor was found in the late 1600s.

Of course, matching isn’t provided in the 23andMe and LivingDNA databases, so we can’t tell who we do and don’t match genealogically, but haplogroups alone are not entirely useless and can provide great clues.

Haplogroups Alone

Haplogroups alone can be utilized to include or eliminate people for further scrutiny to identify descendancy on a particular line.

mitochondrial advanced matches link.png

For example, at Family Tree DNA, I can utilize the advanced matching tool to determine whether I match anyone on both the Family Finder autosomal test AND on any of the mitochondrial DNA tests.

mitochondrial advanced matches

Click to enlarge

My match on both tests, Ms. Martha, above, has not tested at the full sequence level, so she won’t be shown as a match there. It’s possible that were she to upgrade that we would also match at the full sequence level. It’s also possible that we wouldn’t. Even an exact mitochondrial match doesn’t indicate THAT’s the line you’re related on autosomally, but it does not eliminate that line and may provide useful clues.

If my German match, Lucille and I had matched autosomally AND on the full sequence mitochondrial test, plus our ancestors lived 7 miles apart – those pieces of evidence would be huge clues about the autosomal match in addition to our mitochondrial match.

Alas, Lucille and I don’t match autosomally, but keep in mind that there are many generations between Lucille and me. If we had matched autosomally, it would have been a wonderful surprise, but we’d be expected not to match given that our common ancestor probably lived sometime in the 1600s or 1700s.

If I’m utilizing 23andMe and notice that someone’s haplogroup is not J1c2, the same as mine, then that precludes our common ancestral line from being our direct matrilineal line.

At GedMatch, people enter their haplogroup (or not) by hand, so they enter their haplogroup at the time they upload to GedMatch. It’s possible that their haplogroup assignment may have changed since that time, either because of a refined test or because of a Build number update. Be aware of the history of your haplogroup. In other words, if your haplogroup name changed (like A4 to A1), it’s possible that someone at GedMatch is utilizing the older name and might be a match to you on that line even though the haplogroup looks different. Know the history of your haplogroup.

Perhaps the best use of haplogroups alone is in conjunction with autosomal testing to eliminate candidates.

For example, looking at my match with Stacy at 23andMe, I see that her haplogroup is H1c, so I know that I can eliminate that specific line as our possible connection.

mitochondrial haplogroup compare.png

At Family Tree DNA, I can click on any Family Finder match’s profile to view their haplogroup or use the Advanced matching tool to see my combined Family Finder+mtDNA matches at once.

Mitochondrial match profile.png

Haplogroups and Ethnicity

My favorite use of haplogroups is for their identification of the history of the ancestral line. Yes, in essence a line by line ethnicity test.

Using either your own personal results at Family Tree DNA, or their public haplotree, you can trace the history of your haplogroup. In essence, this is an ethnicity test for each specific line – and you don’t have to try to figure out which line your specific ancestry came from. It’s recorded in the mitochondrial DNA of each person. I’ve created a DNA pedigree chart to record all my ancestors Y and mitochondrial DNA haplogroups.

Ancestor DNA Pedigree Chart

Using Powerpoint, I created this DNA pedigree chart of my ancestors and their Y and mitochondrial DNA.

Roberta's DNA Pedigree Chart 2019

You can see my own mitochondrial DNA path to the right, in red circles, and my father’s Y DNA path at left, in blue boxes. In addition to Y DNA, all men have mitochondrial DNA inherited from their mother. So you can see my grandfather, William George Estes inherited his mitochondrial DNA from his mother Elizabeth Vannoy, who inherited it from Phoebe Crumley whose haplogroup is J1c2c.

This exercise disproved the rumor that Elizabeth Vannoy was Native American, at least on that line, based on her haplogroup. You can view known Native American haplogroups here.

So Elizabeth Vannoy and her mother, Phoebe Crumley, and I share a common ancestor back in J1c2 times, before the split of J1c2c and J1c2f from J1c2, so roughly 2,000 years ago, give or take a millennia.

Haplogroup Origins

My own haplogroup J is European. That’s where my earliest ancestor is found, and it’s also where the migration map shows that haplogroup J lived.

mitochondrial haplogroup origins tab.png

The information provided on my Haplogroup Origins page shows the location of my matches by haplogroup by location. I’m only showing my full sequence matches below.

Generally, the fewer locations tested, at the HVR1 or HVR1+HVR2 levels, the matches tend to be less specific, meaning that they may reach thousands of years back in time. On the other hand, some of those HVR1/HVR2 matches may be very relevant, but it’s unlikely that you’ll know unless you have a rare value in the HVR1/HVR2 region meaning few matches, or both people upgrade to the full sequence test.

mitochondrial haplogroup origins results

Click to enlarge image

You can see by the information above that most of my exact matches are distributed between Sweden and Norway, which is a very specific indicator of Scandinavian heritage ON THIS LINE alone.

By contacting and working with my matches of a genetic distance of 1, 2 and 3, I determined, based on the mutations, that the “root” of this group originated in Scandinavia and my branch traveled to Germany.

This is more specific than any ethnicity test would ever hope to be and reaches back to the mid-1600s. Better yet, I can make this same discovery for every line where I can find an individual to test – effectively rolling back the curtain of time.

Ancestral Origins

mitochondrial ancestral origins tab.png

Haplogroup Origins can be augmented by the Ancestral Origins tab which provides you with the ancestral location of your matches’ most distant known ancestor.

mitochondrial ancestral origins results

Click to enlarge

Again, exact matches are going to be much more relevant to you, barring exceptions like heteroplasmies (covered here), than more distant matches.

New Haplogroup Discoveries

You might wonder, when looking at your results if there are opportunities for new haplogroup subgroups. In my case, there are a group of 33 individuals who match exactly and that include many common mutations in addition to the 11 locations in my results that are currently indicated as haplogroup identifying, indicated in red below.

mitochondrial haplogroup defining mutations J1c2f

Click to enlarge image

My haplogroup defining mutation at A10398G! is a reversion, meaning that it has mutated back to the ancestral value, so we don’t see it above, because now it’s “normal” again. We just have to trust the ancestral branching tree to understand that upstream, this mutation occurred, then occurred a second time back to the normal or ancestral value.

The two extra mutations that everyone in this group has may be enough to qualify for a new haplogroup, call it “1” for purposes of discussion – so it could be named J1c2f1, hypothetically. However, there may be other sub-haplogroups between f and 1, so it’s not just a matter of tacking on a new leaf. It’s a matter of evaluating the entire tree structure with enough testers to find as many sub-branches as possible.

Attempting to assign or reassign branches based on a few tests and without a full examination of many tests in that particular branching haplotree structure would only guarantee a great deal of confusion as the new branch names would have to be constantly changed to accommodate new branching tree structures upstream.

This is exactly why I encourage people to upload their results to GenBank. I’ll step through that process in our last article.

What’s Next?

My next article in this series, in a couple weeks, will be Mitochondrial DNA: Part 4 – Techniques for Doubling Your Useful Matches. I more than doubled mine. There’s a lot more available than meets the eye at first glance if you’re willing to do a bit of digging.

But hey, we’re genealogists – and digging is what we live for!

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Disclosure

I receive a small contribution when you click on some (but not all) 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 Services

Genealogy Research

Genographic Project Prepares to Shut Down Consumer Data Base

Today, on the National Geographic Society’s Genographic Project page, we find this announcement:

Genographic end

This is a sad day indeed.

  • Effective May 31, 2019, you can no longer purchase Genographic kits.
  • If you currently have an unsubmitted kit, you may still be able to submit it for processing. See this link for more information about your specific kit.
  • The Genographic website will be taken down December. 31, 2020. Your results will be available for viewing until then, but not after that date.
  • Data will be maintained internally by the Genographic project for scientific analysis, but will not be otherwise available to consumers. Miguel Vilar with the Genographic Project assures me that the underlying scientific research will continue.

Please Transfer Your DNA Results

The original Genographic project had two primary goals. The first being to obtain your own results, and the second being to participate in research.

If you are one of the 997,222 people in 140 countries around the world who tested, you may be able to transfer your results.

Depending on which version of the Genographic test you’ve taken, you can still preserve at least some of the benefit, for yourself and to scientific research.

Family Tree DNA Genographic transfer

Note that only Y and mitochondrial DNA results can be transferred, because that’s all that was tested. How much information can be transferred is a function of which level test you initially took, meaning the version 1 or version 2 test.

According to the Family Tree DNA Learning Center, people who transfer their results also qualify for a $39 Family Finder kit, which is the lowest price I’ve ever seen anyplace for an autosomal DNA test.

  • If you tested within the US in November 2016 or after, you tested on the Helix platform and your results cannot be transferred to Family Tree DNA.

If you have already tested your Y (males only) and mitochondrial DNA at Family Tree DNA, there is no need to transfer Genographic data. Family Tree DNA information will be more complete.

Salvage as Much as Possible

As a National Geographic Society Genographic Project Affiliate Researcher and long-time supporter, I’m utterly heartsick to see this day.

Please transfer what you can to salvage as much as possible. We already lost the Sorenson data base, Ancestry’s Y and mitochondrial DNA data base along with YSearch and MitoSearch. How much Y and mitochondrial DNA information, critical to genealogists and the history of humanity, has been lost forever?

Let’s not lose the Genographic Project information too. Please salvage as much as possible by transferring – and spread the word.

Please feel free to repost or preprint this article.

______________________________________________________________

Disclosure

I receive a small contribution when you click on some (but not all) 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 Services

Genealogy Research

Mitochondrial DNA: Part 2 – What Do Those Numbers Mean?

This is the second part in a series about mitochondrial DNA. The first article can be found here:

When people receive their results, generally the first thing they look at is matches, and the second thing is the actual results.

Mitochondrial personal page

You can click smaller images to enlarge.

We’re going to leave working with matches until after we discuss what the numbers on the Results page actually mean.

Fair warning – if you’re not interested in the “science stuff,” then this article probably isn’t for you. We’re going to talk about the different kinds of mutations and how they affect your results and matching. I promise to make the science fun and understandable.

However, it’s only fair to tell you that you don’t need to understand the nitty-gritty to make use of your results in some capacity. We will be covering how to use every tab on your mitochondrial DNA page, above, in future articles – but you may want to arm yourself with this information so you understand why tools, and matching, work the way they do. All matches and mismatches are not created equal!

The next article in the series will be “Mitochondrial DNA: Part 3 – Haplogroups Decoded” in which we’ll discuss how haplogroups are assigned, the differences between vendors, and how haplogroup results can be utilized for genealogy.

If you have your full sequence mitochondrial results from Family Tree DNA, it would be a good idea to sign on now, or to print out your results page so you can refer to your results while reading this article.

Results

I’m using my own results in these examples.

When you click on the “Results” icon on your personal page, above, this is what you’ll see.

Mitochondrial results 1

Please click to enlarge image.

After you read the information about your haplogroup origin, your eyes will drift down to the numbers below, where they will stop, panic spreading throughout your body.

Never fear – your decoder ring is right here.

Where Did Those Numbers Come From?

The numbers you are seeing are the locations in your mitochondrial DNA where a mutation has occurred. Mutations, in this sense, are not bad things, so don’t let that word frighten you. In fact, mutations are what enables genetic genealogy to work.

Most of the 16,569 locations never change. Only the locations that have experienced a mutation are shown. Locations not listed have not experienced a mutation.

The number shown is the location, or address, in the mitochondrial DNA where a mutation has occurred.

However, there is more than one way to view your results.

Two Tabs – rCRS and RSRS

Mitochondrial RSRS tab

Please click to enlarge images.

You’ll notice that there are two tabs at the top of the page. RSRS values are showing initially.

rCRS and RSRS are abbreviations for “revised Cambridge Reference Sequence” and “Reconstructed Sapiens Reference Sequence.”

The CRS, Cambridge Reference Sequence was the reference model invented in 1981, at Cambridge University, when the first full sequencing of mitochondrial DNA was completed. Everyone has been compared to that anonymous individual ever since.

The problem is that the reference individual was a member of haplogroup H, not a haplogroup further back in time, closer to Mitochondrial Eve. Mitochondrial Eve was not the first woman to live, but the first woman to have a line of continuous descendants to present. You can read more about the concept of Mitochondrial Eve, here and about rCRS/RSRS here.

Using a haplogroup H person for a reference is kind of like comparing everyone to the middle of a book – the part that came later is no problem, but how do you correctly classify the changes that preceded the mutations that produced haplogroup H?

Think of mitochondrial DNA as a kind of biological timeline.

Mitochondrial Eve to rCRS.png

In this concept example, you can see that Mitochondrial Eve lived long ago and mutations, Xs, that formed haplogroups accrued until haplogroup H was born, and additional mutations continued to accrue over thousands of years.

Mitochondrial Eve to H and J.png

Haplogroup J, a different haplogroup, was born from one of mitochondrial Eve’s descendants with a string of their own mutations.

The exact same process occurred with every other haplogroup.

You can see a bare-bones tree in the image below, with H and J under different branches of R, at the bottom.

Mitochondrial bare bones tree.png

Using the rCRS model, the descendants of haplogroup J born today are being compared to the rCRS reference person who is a descendant of haplogroup H.

In reality, everyone should be being compared directly to Mitochondrial Eve, or at least someone much closer to the root of the mitochondrial phylotree than haplogroup H. However, when the CRS and then the revised CRS (rCRS) was created, scientists didn’t know as much as they do today.

In 2012, Dr. Doron Behar et al rewrote the mitochondrial DNA phylotree in the paper A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root by discerning what mitochondrial Eve’s DNA looked like by tracking the mutations backwards in time.

Then, the scientists redrew the tree and compared everyone to Mitochondrial Eve at the base of the tree. The RSRS view shows those mutations, which is why I have more mutations in the RSRS model than in the rCRS model where I’m compared with the haplogroup H person who is closer in time than Mitochondrial Eve. In other words, mutations that were considered “normal” for haplogroup J because haplogroup H carried them, are not considered mutations by both haplogroup J and H because they are both being compared to Mitochondrial Eve.

Today, some papers and individuals utilize the CRS version, and others utilize the RSRS version. People don’t adapt very well or quickly to change. Complicating this further, the older papers, published before 2012, would continue to reference rCRS values, so maintaining the rCRS in addition to the RSRS seemed prudent.

You can see the actual mtDNA haplotree here and I wrote about how to use it here.

Let’s look at the differences in the displays and why each is useful.

The Cambridge Reference Sequence

My rCRS results look a little different than the RSRS results.

Mitochondrial RSRS tab

You can click to enlarge images.

I have more mutations showing on the RSRS page, above, than in the rCRS page below, including only the information above the second row of black headers.

Mitochondrial rCRS page

Click to enlarge.

That’s because my RSRS results are being compared to Mitochondrial Eve, much further back in time. Compared to Mitochondrial Eve, I have a lot more mutations than I have being compared to a haplogroup H individual.

Let’s look at the most common example. Do you see my mutation at location 16519C?

Mitochondrial 16519.png

In essence, the rCRS person carried this mutation, which meant that it became “normal” and anyone who didn’t have the mutation shows with a mutation at this location.

Therefore, today, you’re very likely to have a mutation at location 16519C in the rCRS model.

In the RSRS results below, you can see that 16519C is missing from the HVR1 differences.

Mitochondrial DNA RSRS mutations.png

You can see that the other two mutations at locations 16069 and 16126 are still present, but so are several others not present in the rCRS model. This means that the mutations at locations 16129, 16187, 16189, 16223, 16230, 16278 and 16311 are all present in the rCRS model as “normal” so they weren’t reported in my results as mutations.

However, when compared to Mitochondrial Eve, the CRS individual AND me would both be reported with these mutations, because we are both being compared to Mitochondrial Eve.

Another difference is that at the bottom of the rCRS page you can see a list of mutations and their normal CRS value, along with your result.

Mitochondrial HVR1 rCRS mutations.png

For location 16069, the normal CRS value is C and your value is T.

Why don’t we have this handy chart for the RSRS?

We don’t need it, because the value of 16069C in the RSRS model is written with the normal letter preceding the location, and the mutated value after.

Mitochondrial nucleotides.png

You might have noticed that you see 4 different letters scattered through your results. Why is that?

Letters

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

  • T – Thymine
  • A – Adenine
  • C – Cytosine
  • G – Guanine

Looking at location 16069, above, we see that C is the normal value and T is the mutated value.

Let’s look at different kinds of mutations.

Transitions, Transversions and Reversions

DNA is normally paired in a particular way, Ts with As and Cs with Gs. You can read more about how that works here.

Sometimes the T-As and C-Gs flip positions, so T-C, for example. These are known as transitions. A mutation with a capital letter at the end of the location is a transition.

For example, C14352T indicates that the normal value in this location is C, but it has mutated to T. This is a transition and T will be capitalized. The first letter is always capitalized.

If you notice that one of your trailing letters in your RSRS results is a small letter instead of a capital, that means the mutation is a transversion instead of a transition. For example, C14352a.

Mitochondrial DNA transitions and transversions.png

You can read more about transitions and transversions here and here.

When looking at your RSRS results, your letter before the allele number is the normal state and the trailing noncapital letter is the transversion. With C14352a, C is the normal state, but the mutation caused the change to a, which is a small letter to indicate that it is a transversion.

Original Value

Typical Transition Pairing (large trailing letter)

Unusual Transversion Pairing (small trailing letter)

T

C a or g

A

G

c or t

C

T

a or g

G A

c or t

An exclamation mark (!) at the end of a labeled position denotes a reversion to the ancestral or original state. This means that the location used to have a mutation, but it has reverted back to the “normal” state. Why does this matter? Because DNA is a timeline and you need to know the mutation history to fully understand the timeline.

The number of exclamation marks stands for the number of sequential reversions in the given position from the RSRS (e.g., C152T, T152C!, and C152T!!).

Mitochondrial DNA reversions.png

This means that the original nucleotide at that location was C, it changed to T, then back to C, then back to T again, indicated by the double reversion-!!. Yes, a double reversion is very, very rare.

Insertions

Mitochondrial DNA insertions.png

Many people have mutations that appear with a decimal point. I have an insertion at location 315. The decimal point indicates that an insertion has occurred, and in this case, an extra nucleotide, a C, was inserted. Think of this as DNA cutting in line between two people with assigned parking spaces – locations 315 and 316. There’s no room for the cutter, so it’s labeled 315.1 plus the letter for the nucleotide that was inserted.

Sometimes you will see another insertion at the same location which would be noted at 315.2C or 315.2A if a different nucleotide was inserted.

Complex insertions are shown as 315.XC which means that there was an insertion of multiple nucleotides, C, in this case, of unknown length. So the number of Cs would be more than 1, but the number was not measurable so the unknown “X” was used.

Some locations, such as 309 and 315 are so unstable, mutating so often, that they are not included in matching.

Deletions

Deletions occur when a piece of DNA is forever removed. Once deleted, DNA cannot regenerate at that position.

A deletion is indicated by either a “d” or a “-“ such as 522d or 522-.

Deletions at locations 522 and 523 are so common that they aren’t utilized in matching either.

Extra and Missing Mutations

On the RSRS tab, you’ll notice extra and missing mutations. These are mutations that vary from those normally found in people who carry your haplogroup. Missing and extra mutations are your own personal DNA filter that allow you to have genealogically meaningful matches.

Mitochondrial DNA extra and missing mutations.png

Extra mutations are mutations that you have, but most people in your haplogroup don’t.

Missing mutations are mutations that most people have, and you don’t.

Heteroplasmies

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

What this means is that you have two versions of the DNA sequence showing in your mitochondrial DNA at that location. At a specific location, you show both of two separate nucleotides. Amounts detected of a second nucleotide over 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 I have seen some heteroplasmies that seem to be persistent for several generations.

Heteroplasmies are indicated in your results by a different letter at the end of the location, so for example, C16069Y where the Y would indicate that a heteroplasmy had been detected.

The 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.

Mitochondrial DNA heteroplasmy.png

Heteroplasmy Matching

Technically, using the example of C16069Y, where Y tells us that both C and T was found, this location should match against anyone carrying the following values:

  • C (original value)
  • T (mutated value)
  • Y (letter indicating a heteroplasmy)

However, currently at Family Tree DNA, the heteroplasmy only counts as a match to the Y (specific heteroplasmy indicator) and the CRS value or C, but not the mutated value of T.

Genetic Distance

The difference in matching locations is called the genetic distance. I wrote about genetic distance in the article, Concepts – Genetic Distance which has lots of examples.

When you have unusual results, they can produce unexpected consequences. For example, if a heteroplasmy is found in the HVR 1 or 2 region, and a woman’s child doesn’t have a heteroplasmy, but does have the mutated value – the two individuals, mother and child, won’t be shown as a match at the HVR1/2 level because only exact matches are shown as matches at that level.

That can be pretty disconcerting.

If you notice something unusual in your results, and you match someone exactly, you know that they have the same anomaly. If you don’t match the person exactly, you might want to ask them if they have the same unusual result.

If you expect to match someone, and don’t, it doesn’t hurt to begin discussions by asking about their haplogroup. While they might be hesitant to share their exact results values with you, sharing their haplogroup shouldn’t be problematic. If you don’t share at least the same base haplogroup, you don’t need to talk further. You’re not related in a genealogically relevant timeframe on your matrilineal line.

If you do share the same haplogroup, then additional discussion is probably warranted about your differences in results. I generally ask about the unusual “extra and missing” mutations, beginning with “how many do you have?” and discussing from there.

Summary

I know there’s a lot to grasp here. Many people don’t really want to learn the details any more than I want to change my car’s oil.

I understand that completely which is why I provide both Quick Consults and Personalized DNA Reports for those who want information either quickly or as a report for either Y or mitochondrial DNA. Quick Consults allow up to an hour to answer a specific question, and Personalized DNA Reports provide you with a written document of 70-100 pages that explains your results and what they mean to you.

You can also call, e-mail or e-chat with the support department at Family Tree DNA which is free.

Next Article – Haplogroups

Your haplogroup, which we’ll discuss in the next article, can eliminate people as being related to you in the past hundreds to thousands of years, but you need the information held in all of your 16,569 locations to perform granular genealogical matching and to obtain all of the available information. In order to obtain all 16,569 locations, you need to order the mtFull Sequence test at Family Tree DNA.

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