Thirteen Good Reasons to Test Your Mitochondrial DNA

Your mitochondrial DNA is a treasure trove of information for one specific line of your genealogy – providing refined information that autosomal tests simply can’t provide.

Some people say mitochondrial isn’t useful, but here’s just one example of mitochondrial DNA bulldozing a brick wall, along with some helpful tips.

But, I Already Know My Haplogroup

Customers who take autosomal tests receive basic haplogroup information from both 23andMe and LivingDNA for their matrilineal line – but that’s just the tip of the iceberg.

Let’s talk about why someone would want to take the full sequence mitochondrial DNA test (mtFull Sequence) at Family Tree DNA if they have already received their haplogroup.

Let’s start out with a very brief description of exactly how mitochondrial DNA testing works.

OK, How Does Mitochondrial DNA Work?

Mitochondrial DNA follows the matrilineal line directly, meaning your mother’s mother’s mother’s mother’s line on up the tree until you run out of mothers and smack dab into your brick wall.

Your mitochondrial DNA is not mixed with DNA of the various fathers, so what you’re seeing is the same mitochondrial DNA that your ancestors carried for many generations, sometimes with a few mutations that accrue over time.

Mitochondrial DNA Who to Test

Please note that you can click on any image to enlarge.

In the pedigree chart above, the pink daughter or son at the bottom of the chart inherited their mitochondrial DNA from the pink direct matrilineal lineage, while their light blue father inherited his mitochondrial DNA from his mother’s magenta lineage.

Stepping back a generation, the dark blue maternal grandfather inherited his mitochondrial DNA from his red mother. The light blue paternal grandfather inherited his from his buttercup-yellow mother – and so forth.

Everyone, males and females both, can test their mitochondrial DNA to see what secrets it reveals.

You don’t know what you don’t know – and if you don’t test your mitochondrial DNA, you’re leaving undiscovered information relevant to several ancestors on the table.

What Information Do I Receive When I Test?

Let’s look at the benefits of testing, the information you’ll receive and what it can do for you. I’m using my own results at Family Tree DNA as an example.

  • Matching – The number one reason to test your full sequence mitochondrial DNA is matching. Your results are matched to the results of other testers. This means you have the opportunity to discover distant cousins who share direct matrilineal ancestors.

mitochondrial matches

I have 71 full sequence matches, about half of which have entered an “Earliest Known Ancestor.” Many have uploaded trees – 4 of the 5 shown above. You may discover other testers who share the same ancestor, a common geography, or people who have pushed your ancestral line back another generation or two. Matching includes your matches trees, if they create or upload one, and their e-mail address so that you can reach out and share.

I’ve broken through more than one seemingly impossible brick wall utilizing mitochondrial DNA matches.

  • Your Full Haplogroup – While autosomal DNA tests can “target test” a few haplogroup defining locations, they can’t test every location needed for a complete haplogroup. For example, my haplogroup at the various vendors is only a subset, like J1c, of my J1c2f. To learn about the history of my ancestors, I need the entire haplogroup.

mitochondrial DNA J1c2f.png

  • Identifying Origins – Mitochondrial DNA haplogroups provide a periscope view into origins, such as Native American ancestors, those of European origin, Asian or African, and subgroupings therein.

Haplogroup J is European, but some of my other ancestors carry Native American mitochondrial DNA which serves to unquestionably prove that line is Native, regardless of how far back in time. Autosomal DNA ethnicity testing can’t do this and is nonspecific to any particular line.

Think your direct matrilineal line might be Native? This is the acid test!

  • Periscope Through Time – Mitochondrial DNA testing allows you to peer behind the veil of your brick wall in that specific line, to view the origins of that ancestor and where her ancestors originated hundreds and thousands of years before surnames originated.

Mitochondrial periscope.png

  • Your Actual Results – Your actual test results, including mutations, hold interesting information, such as genetic locations where you have insertions or deletions along with unusual extra and missing mutations which are the sources of your differences when you match other testers. These mutations arose in a relatively recent time-frame, genetically speaking. Some mutations known as heteroplasmies carry even more information about very recent “mutations in process.”

Mutations are your personal “genetic filters,” meaning that the more matching mutations you have with someone, the closer your common ancestor.

mitochondrial results.png

Look, I have 5 extra mutations and all of my full sequence exact matches have all of those extra mutations too!

  • Haplogroup Origins – Geographic locations where your haplogroup is found and how many of your matches are found in that location.

mitochondrial DNA haplogroup origins.pngmitochondrial DNA haplogroup origins chart.png

It appears that haplogroup J1c2f is found exclusively in Northern Europe and Scandinavia. Is there a message here?

  • Ancestral Origins – Countries where your matches indicate that their earliest known mitochondrial ancestor is from.

mitochondrial DNA ancestral origins.pngmitochondrial DNA ancestral origins chart.png

Wow – my full sequence exact matches are almost all Scandinavian.

  • Match Maps – Match maps show you the locations of the earliest known ancestors of your matches, plus the identity of each match by clicking on the colored pin. I’m the white pin.

mitochondrial DNA match map.png

My exact matches, in red, are mostly found in Sweden and Norway, but one is located in Russia and one in Poland. I wonder what history would account for this distribution. There’s a story that needs to be uncovered and told.

  • Migration Map – The path your ancestors took when migrating out of Africa to the location where you find them.

mitochondrial DNA migration map.png

Haplogroup J is found in Europe, but not in Africa, the Americas or Asia.

  • Haplogroup Frequency Map – The frequency by percentage of the people from a specific location that carry a particular haplogroup.

mitochondrial DNA frequency map.png

This interactive map shows that 9.34% of Europeans carry a subset of haplogroup J today. It’s easy to see where the haplogroup is and isn’t found.

  • Projects – Testers can join numerous projects at Family Tree DNA administered by volunteers that reflect specific interests. For example, for people with Native American ancestors, the American Indian project is a good choice.

Haplogroup projects provide the ability to view your results grouped with others in the same subhaplogroup – even if you don’t match everyone in that group. Projects also provide maps of the locations of earliest known ancestors in each group.

mitochondrial DNA haplogroup map.png

I’m a member of the haplogroup J project. Ancestral locations of other people in the project who are members of haplogroup J1c2f are shown above. This map includes people that I match as well as people that I don’t, but with whom I still share an ancestor further back in time.

  • Mitochondrial DNA Haplotree – Not only can you view the Haplotree, but the results of Family Tree DNA’s customers who have taken the full sequence test provide the data for the tree. Testing isn’t just about obtaining information, but contributing to the science as well. I wrote abut the haplotree here.

Mitochondrial DNA haplotree.png

You can see your haplogroup in pedigree format as it descends from its main branch, in my case, J. To the right, the countries where J1c2f is found. The mitochondrial haplotree is important because it’s not limited to people who match you, or to people who join projects.

  • Haplogroup Country Report – The Haplogroup Country Report breaks down the information behind the little flags on the haplotree, above.

Mitochondrial DNA country report.png

41.67% of the people in haplogroup J1c2f have ancestors found in Sweden. I was quite surprised, given that my earliest known ancestor is found in Germany.

  • Your Other Lines – You may be lucky enough to discover that someone who descends from one of your other lines whose mitochondrial DNA you don’t carry has tested. For example, if your father or one of his siblings tests and shares their results with you, you would be “gifted” with mitochondrial information of your paternal grandmother.

If everyone were to test, just think how much information would be available for genealogists to share. How many of your lines would benefit? Can you find testers for some of them?

What About You?

How much of this information could you discover without mitochondrial DNA testing?

None.

As a genealogist, you want to know every single thing you can unearth about each ancestor, right?

Mitochondrial testing holds a world of treasure that’s easily available to everyone.

You might notice that Family Tree DNA offers two tests, the mtDNA Plus and the mtFull Sequence.

Which Test?

The mtDNA Plus test only reads two regions (HVR1/HVR2) of the mitochondria, about 2000 locations out of 16,569 total. You do receive a base haplogroup and matching along with the other tools described above. However, without the full sequence test, your matches may be thousands of years in the past. I think of the mtDNA Plus test as the beginners test.

To use mtDNA successfully for genealogy and to receive the most granular information possible, you need the full sequence test which tests the full mitochondria. This is the test for serious genealogists.

The great news is that if you’ve already taken the HVR1/HVR2 mtDNA Plus test, you can easily upgrade to mtFull Sequence by signing on to your personal page and clicking upgrade.

The full sequence mitochondrial DNA test is on sale right now for $149, a $50 savings, through April 25th for DNA Day.

Discover the secrets in your mitochondrial DNA!

Click here to order.

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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.

29 thoughts on “Thirteen Good Reasons to Test Your Mitochondrial DNA

  1. Very interesting. There is a possibility my maternal grandmother was not the bio child of her “parents” which would make that part of my tree inaccurate. The “suspicion” that she was “adopted” is one many decades old. Recent DNA results have shown no link between two other living individuals and myself, when the “tree” clearly indicates that there should be at the 3rd cousin level. Taking advantage of this expanded look at my mtDNA could be a big step in solving the puzzle of my grandmother. Thanks for your, as usual, great explanation!

    • Yes, a full sequence mtDNA would be a huge piece of evidence. Do note that only 90% of third cousins match.

  2. I’m so glad I took the full sequence mtDNA test as I discovered ancient Sephardic Jewish ancestry. My known ancestry is Ashkenazi Jewish. Some of my matches are from Spain, Morocco, the Americas, as well as from Poland and Ukraine. I also have more distant matches with French Acadians. I have two unique heteroplasmies. One of my sisters who took the mtDNA test shares one of the heteroplasmies with me and my second heteroplasmy must be new with me!

    One of my cousins belongs to the jc1 branch. I wish he would take the full sequence test. His maternal grandmother’s ancestors are Jews from Lithuania right across the Baltic sea from Sweden.

  3. I took the full sequence mtDNA. I have one match who has a Genetic Distance of 1 and he and I can’t find our common ancestor–his maternal line goes back to the early 1800’s and mine goes to the mid 1700’s. What annoys me is I can’t get FamilyTreeDNA to stop emailing me every time there’s a match who is a genetic distance of 3. If I can’t find a common ancestor for a genetic distance of 1, then I won’t be able to find a common ancestor for genetic distance of 2 or 3, so why not give me the option of not receiving those notifications?

      • That is not what was requested, but it seems to be fairly standard in the industry. FTDNA seems to be shooting itself in the foot by sticking to an all-or-nothing approach, when Cliff (and I) would like to be able to choose “just GD=0 notifications, please”.
        It just angers people who could be advocates for the test.

  4. Good article! I posted it at the FTDNA Forum. I have slightly less than 70 full sequence matches also, and am U3a1b.

    A few months ago several of us posted our full sequence matches just for comparison and one was outstanding: He had 1306 total, 376 GDO and haplogroup k1a1b1a.

    There was a myth in my family that my gg grandmother was NA. Not so, the test proved.

    • Haplogroup k1a1b1a is common among Ashkenazi Jews, so that could be why your gg grandmother had so many matches!

  5. In an effort to learn more about my husband’s great grandmother born abt.1820 Ireland, we did a full sequence mtDNA for his second cousin who is the only direct female line back to great grandma.

    Her haplogroup is H1e and she has 8 matches at Genetic Distance 3. Only one match has a tree which indicates the female ancestors were born in Poland. None of the matches have listed any ancestral names.

    Any suggestions how to proceed?

      • How far back in time is mtDNA at a genetic distance of 2? How about a genetic distance of 1?

        My sister is GD 1, so my GD 2 mtDNA matches might be equivalent to GD 1 matches, and my GD 3 matches more like GD 2 matches.

        • It depends on the mutations. If they are heteroplasmies (where the end letter is not T, A, C, or G) the mutation can be very recent. Some families have multiples.

          • Yes, I have two heteroplasmies, so they must be within me alone or my mom. I don’t have any other relatives to test other than my second sister or my first sister’s daughter.

          • Heteroplasmies are mutations in process, so your mother might have had it, just not over the threshold where it’s called a heteroplasmy – or – it could be in your generation. If you are curious, you could test your sister.

  6. I wonder if there might be some help in looking at the maternal X chromosome in a male? I am male and thus have only my mothers copy, but I have a female first cousin and she would have both her mothers X and her fathers X. So by comparing the two she has can any information be obtained on the paternal line for both of us? In other words figure out which X matches and that would be the paternal line….and then try to do something?

  7. I have already done mtDNA Plus for a relative. I want to upgrade, but this current sale doesn’t seem to offer me any discount. Please tell me I’m wrong?

  8. I was fortunate enough to find that one exact mtDNA match was also an autosomal match (about 5th cousin). That means I know he is related to me via my maternal grandmother, who is the person I am trying to research. So that makes him a prime target for further joint research – I have contacted him and we are working on it. I would never have picked him out from all my other 5th cousin matches without the mtDNA test.

  9. I had the interesting discovery a fe years ago when I did my full sequence mtDNA test that the genetic distance = 0 matches were all Scandinavian, mainly Swedish, yet my maternal ancestor was born in 1803 in Silesia, that part of which is now in Poland. Those Swedish matches I have attempted to contact-some are on the FTDNA haplogroup project, have so far not answered. The only explanation I can find so far for the Silesian-Swedish connection is the 30 Years War at the beginning of the 17th century, when Gustav II Adolph of Sweden invaded northern Europe to defend his Protestant co-brethren against the Catholic counter-Reformation. His armies would have been composed of soldiers and a baggage train of sutlers, merchants, blacksmiths, armourers, nurses, caterers etc., of a size equal to or even larger than the fighting force. Mother Courage by Bertolt Brecht is the story of such a person set in the same period. Perhaps my maternal ancestor got left behind at the end of the war.

  10. Pingback: Thirteen Good Reasons to Test Your Mitochondrial DNA — DNAeXplained – Genetic Genealogy | Ups and Downs of Family History V2.0

    • No test can directly identify a tribe. It can confirm Native ancestry in that line only. It can also disprove it.

  11. Your comment “My exact matches, in red, are mostly found in Sweden and Norway, but one is located in Russia and one in Poland. I wonder what history would account for this distribution. There’s a story that needs to be uncovered and told.” –
    Quite a bit of my genetic make-up says Sweden or Finland on my father’s side of the family. My father’s brother is the one and my father the other country. All of their ancestors as far back as know were Germans from Russia (Lutheran, first living in Poland then Grodno, then Volhynian (Ukraine)) or Polish Catholic. The comment directly above from Kevin Brewer is probably the answer.

  12. Lucky you, having matches. I also did the Full Sequence mtDNA test, and my one and only match is my son. Our Haplogroup is U5b2a2 according to FTDNA, and U5b2a2c according to Ian Logan, which, annoyingly, FTDNA refuse to acknowledge. I would love to have a full match come up, as my 4th great grandmother is my brick wall right now, it might just help to break that wall down.

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