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 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

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 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

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.

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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 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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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.

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GedMatch Implements Required Opt-In for Law Enforcement Matching

GedMatch has provided an autosomal suite of tools for genealogists that isn’t offered elsewhere for several years now. Their basic service is free but their advanced tools, known at Tier 1, are subscription. GedMatch is comprised of two individuals, Curtis Rogers and his partner. I know them both and have for years.

Every serious genealogist uses or has used GedMatch because it’s the only place that provides the unique blend of tools they offer. In addition to testing at or transferring to multiple vendors, GedMatch is an integral part of fishing in every pond.

However, GedMatch has been under fire for a year.

Law Enforcement Kit Matching

In April 2018, GedMatch made news, and eventually the New York Times, when the database was utilized to catch the Golden State Killer (GSK). I wrote about that here.

GedMatch felt that they were unable to stop the uploading of forensic kits, meaning kits created from evidence left at crime scenes, so they chose to embrace working with law enforcement to catch violent criminals and identify victims whose DNA is obtained from their remains.

How often does this really work?

In the fall of 2018, a paper titled Re-dentification of genomic data using long range familiar searches was published by Yaniv Erlich et al and stated:

“Here, we leveraged genomic data of 600,000 individuals tested with consumer genomics to investigate the power of such long-range familial searches. We project that half of the searches with European-descent individuals will result with a third cousin or closer match and will provide a search space small enough to permit re-identification using common demographic identifiers. Moreover, in the near future, virtually any European-descent US person could be implicated by this technique.”

This certainly gives law enforcement reason to believe that if they could upload evidence kits from violent crime scenes and victims, that they could be identified. The cases solved since that time have proven the paper’s statement to be accurate.

Legally, this is known as “probable cause” and would provide law enforcement with a valid reason to petition the court for a search warrant to order that forensic kits be allowed to be uploaded to identify murderers and rapists. It’s likely that they can be identified, which would justify the issuance of a search warrant.

A few months later, in January 2019, Family Tree DNA began allowing law enforcement to upload kits of murderers, rapists and cases of abduction in addition to deceased unidentified victims after screening and approval on a case by case basis. The Family Tree DNA Law Enforcement Guide is here and their Law Enforcement FAQ is here.

I don’t think a comprehensive list exists of the cases solved since GSK, but I know it’s in excess of 30. Not all solved cases have been revealed at this point.

The Kerfuffle

Within the genetic genealogy community, allowing law enforcement to upload DNA kits in order to identify the perpetrators of crimes and unidentified victims has caused an uproar, to put it mildly. Said another way, it has divided the community in half in an ugly way with both sides feeling they are on morally sound and superior ground.

Although surveys published in this academic article show that more than 90% of people are in favor, some of the genetic genealogy community influencers feel otherwise and specifically, that without every person in the data base giving individual consent for this type of matching, that law enforcement matching is unethical. Some are reasonable and will discuss the situation civilly, and others, not so much.

I disagree, in part, because other types of searches such as for biological parents that can have devastating consequences are viewed in another light entirely with many of these same people employed in the search for unknown parents. These searches using the exact same techniques and databases have resulted in destroyed families and murders.

In one case, Michael Lacopo’s mother murdered her father after Michael identified the father using DNA. You can read Michael’s story, here. There are also other very ugly incidents that I’m not at liberty to discuss.

Law enforcement searches for matches to identify criminals, on the other hand, lead to the apprehension of violent offenders.

I shared my opinion in the article, Things That Need To Be Said: Victims, Murder and Judgement.

Every time a new case is solved and hits the news, the outrage begins anew, culminating this past week when Curtis Rogers allowed law enforcement to utilize GedMatch for the identification of a person who broke into a church in Utah and assaulted the elderly 71 year old organist who was practicing in the church alone, strangling her from behind and leaving her for dead. You can read about the assault here.

Had the organist died, it would have been within the GedMatch guidelines, but because she did not, this was technically a breach of the GedMatch terms of service – although in one place their guidelines said “violent crimes” and from my perspective, there is no question that this event qualifies. Thank goodness the 17 year old perpetrator has been identified and is being dealt with before he actually does kill someone.

Regardless, this episode in addition to other recently solved cases culminated with a number of community “influencers” removing both GedMatch and Family Tree DNA from presentations and openly discouraging the use of both companies on Facebook, in blog articles and in other venues. In other words, a boycott and censure, effectively.

Some of the “influencers” have been repeatedly working with BuzzFeed, as in this Buzzfeed story about the Utah case, yet others called for a more balanced approach that would not destroy the resources, companies and community built over the last two decades. Shannon Christmas wrote a balanced article here as did Maurice Gleeson here.

What Happened?

Yesterday, GedMatch sent e-mails to law enforcement providers and a few others, stating that they were changing their terms of service. The contents of the e-mail have been posted on social media, but I’m not comfortable publishing the exact verbiage, other than to say that GedMatch has proceeded, both initially and now, with the best interests of everyone at heart.

Curtis Rogers is concerned that the extreme paralytic division and resulting polarization  is in essence threatening genetic genealogy as a whole.

Extrapolating from that, if the “influencers” manage to kill GedMatch and Family Tree DNA, not only will the community have lost incredibly important resources that are not and cannot be duplicated elsewhere, law enforcement will have lost extremely valuable resources for identifying both criminals and victims. In other words, everyone loses.

Therefore, GedMatch has implemented a new opt-in policy for law enforcement matching.

GedMatch’s New Opt-In Policy

Effective immediately, GedMatch has set all kits, of everyone in their database, to opt-out, meaning that now no kits at all can be used for matching by law enforcement unless users specifically opt-in. Here’s the GedMatch announcement on their webpage after you sign in.

GedMatch LE opt in change.png

This means that if you are at GedMatch, no kits in your account can now be utilized for law enforcement matching. This is clearly a devastating blow to law enforcement, in part because every database is biased towards whatever the default value is. People either don’t read or don’t bother to make changes. Many have abandoned their accounts or died.

GedMatch has already added an opt-in capability meaning that everyone will have to select “opt-in” to make their kit available for law enforcement matching.

The new GedMatch new Terms of Service are here.

Please Opt-In

We are much better as a society with the likes of John Miller, identified through GedMatch, who raped and murdered 7 year old April Tinsley put behind bars where he can’t damage anyone else. DNA identification has also provided closure to many families whose relatives have been missing for years, such as Audrey Lee Cook and Donna Prudhomme who were killed in the 1980s and whose remains were identified using the Family Tree DNA database.

I hope everyone will opt-in, and quickly, so we can rebuild the data base available to law enforcement for matching.

GedMatch LE opt out.png

Viewing the list of kits that I manage on GedMatch, you can see that my kit is listed with a red X through police BY DEFAULT, even though I never made that selection. Your default is “NO” as well.

Clicking on the pencil enables viewing and changing my profile.

Enable Law Enforcement Matching

Here are the steps necessary to enable law enforcement matching.

GedMatch profile.png

Update – note that I’m told that the options above, with LE and no LE have been positionally swapped – so please read, not just follow my pattern.

Notice my default status is “Public, no LE access.” LE means law enforcement.

GedMatch LE opt in.png

In order to change my status, I must BOTH click the radio button that says “Public, with LE access” AND click Change.

This is a 2-step process and if you forget to click change, you’ll think you enabled LE matching, but you didn’t.

Other options include:

  • “No public access” at all, which means that you cannot utilize the kit for matching
  • “Research” which means you can use the kit for matching, but no one else can see your results in their match list.

After the change, your kit should show the status as “Yes, opt-in LE access,” shown at left, below.

GedMatch opt in success.png

Please take the time to change your kits to “Public, with LE access” at GedMatch to enable matching to law enforcement kits to get the criminals off our streets and identify victims, providing closure to families.

Family Tree DNA

Please also upload your kits to Family Tree DNA for the same reason. At Family Tree DNA, currently if you are in the US you are opted in automatically, and if you are in an EU country you were opted-out automatically due to GDPR regulations. EU users since March 12th when the initial opt-out occurred should check their status. You can change either option after signing in by clicking on “Manage Personal Information,” then “Privacy and Sharing.”

The DNA file transfer and matching are both free. Here are instructions.

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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

Mitochondrial DNA: Part 1 – Overview

This is Part 1 of a series about mitochondrial DNA, abbreviated as mtDNA, and how to use it successfully for genealogy.

What is Mitochondrial DNA and Why Do I Care?

Mitochondrial DNA.jpg

Mitochondrial DNA is different from nuclear, or autosomal, DNA. Nuclear DNA resides within the nucleus of a cell, while mitochondrial DNA resides outside the nucleus.

Mitochondrial DNA nucleus.png

Every cell has thousands of mitochondria while it only has one nucleus.

Mitochondrial DNA is a circular ring with 16,569 base pair locations. The biological purpose of mitochondria is to power the organism, converting chemical energy into a form that the cells can utilize.

Mitochondrial DNA is also different from autosomal DNA in how it is passed to offspring.

Inheritance Path

Mitochondrial DNA is unique because all people, males and females, inherit their mitochondrial DNA from their mothers, but only females pass it on to their children.

Y and mtDNA inheritance

The chart above illustrates which individuals in your tree inherit their mitochondrial DNA from whom.

Mitochondrial DNA inheritance.png

The daughter and son both inherit their mitochondrial DNA from their mother, who inherits hers from her mother, and so forth – on up the direct matrilineal line. You can read about the difference between matrilineal and maternal lines, here. In essence, maternal can be referring to anyone on your mother’s side of your tree, while matrilineal is your mother’s mother’s mother’s line ad infinitum.

However, every person in this tree carries mitochondrial DNA of specific ancestors.

Mitochondrial DNA inheritance 2.png

The red arrows show the inheritance path of mitochondrial DNA for individuals whose contributors are also in the tree.

The father of the children inherited his mitochondrial DNA from his magenta mother’s matrilineal line.

His father inherited his mitochondrial DNA from his lavender mother’s line.

The maternal grandfather in dark blue inherited his mitochondrial DNA from his red mother’s line.

Mitochondrial DNA inheritance 3.png

The gold arrows show that the contributors of these individuals are not shown on this tree, but they all inherited their mitochondrial DNA from their matrilineal lines as well.

When discussing mitochondrial DNA, we generally think in terms of ourselves, but the application of mitochondrial DNA to genealogy is as far reaching as all of our ancestors.

Each line has its own unique story for us to harvest – assuming we can find an appropriate candidate for testing or find someone who has already tested.

Why Mitochondrial DNA Works

Mitochondrial DNA is inherited from our matrilineal line directly, with no genetic contribution from any males. This inheritance path allows us to use mitochondrial DNA for matching to others reaching back generations as well as providing a way to view beyond the line-in-the-sand of surnames.

In other words, because mitochondrial DNA is not mixed with DNA from the fathers, it’s very nearly identical to our matrilineal ancestors’ mitochondrial DNA many generations ago.

In fact, by tracing a series of mutations, we can track our ancestor over time from mitochondrial Eve, born in Africa tens of thousands of years ago to where we are today.

Mutations Happen

If mutations never occurred, the mitochondrial DNA of all people would be identical and therefore not useful for us to use for genealogy or to peer back in time beyond the advent of surnames.

Mutations do occur, just not on any schedule. This means that it’s difficult to predict how long ago we shared a common ancestor with someone else based solely on mitochondrial DNA mutations.

There might be a mutation between us and our mother, or there might be no mutations for hundreds or even, potentially, thousands of years.

Part of the success of matching genealogically with mitochondrial DNA testing has to do with the regions tested.

Testing fewer locations results in matches that are much less relevant.

The Regions

Mitochondrial DNA is divided into 4 regions used for genealogy.

  • HVR1 – Hypervariable Region 1 – locations 16021-16569 (548 total locations)
  • HVR2 – Hypervariable Region 2 – locations 1-437 (437 locations)
  • HVR3 – Hypervariable Region 3 – locations 438-576 (138 locations)
  • Coding Region – the balance of the mitochondria (15,445 locations)

If you think of mitochondrial DNA as a clock face, the hypervariable regions span the time from approximately 11-1. The Coding Region is the balance.

Mitochondrial DNA loop.png

Family Tree DNA bundles the HVR3 region with the HVR2 region in their results. They test the entire D Loop, meaning a total of 1124 locations in their mtPlus product.

Matching at the HVR1 or HVR1 plus HVR2/3 levels alone can reach back thousands of years in time. I strongly encourage testers to test at the higher full sequence level with the mtFull product, allowing much more granular matching.

The HVR1, 2 and 3 regions are exactly as their name suggests – hypervariable – meaning that they mutate faster than the coding region.

The mtFull or full sequence test tests the entire mitochondria – all 16,569 locations.

Genealogists need a full sequence test in order to do two things:

  • Match with other testers reliably
  • Obtain a full haplogroup which acts as a periscope in time, allowing us to look much further back in time than autosomal and on one specific line. There’s no confusion as to which line the results came from with mitochondrial DNA.

If you’ve only taken the mtPlus test, don’t worry, you can sign on here and upgrade at any time to the mtFull.

Medical Information

The coding region carries most of the potentially medically relevant locations. Medical data is not provided in the results of the testing – only genealogically relevant information.

Family Tree DNA does provide for HVR1 and HVR2/3 results to be shown in projects that testers join, if testers so choose. Coding region results are never shared anyplace unless individual testers share them individually with each other.

I’m personally not concerned about this, but mitochondrial DNA testing has been occurring for 20+ years now and it was uncertain at that early date what medical information might be discovered in the coding region, so the decision to not share was made by Family Tree DNA at that time and remains in effect today.

Today, Family Tree DNA is the only vendor to test your full sequence mitochondrial DNA and provide matching. Therefore, all examples in this series utilize results and tools at Family Tree DNA.

So, what can people see of your actual results?

What Matches See

Mitochondrial DNA match view

You can click this image to enlarge.

People whom you match can see that you do match, but they can’t see any differences or mutations. They see the name you’ve entered, your earliest known ancestor and can send e-mail to you. Aside from that, they can’t see your results or mutations unless you’ve joined a project.

Within projects, participant names are never listed publicly. In other words, your matches can’t tell that it’s you unless they recognize your earliest known ancestor on the project list and you are the only person with that ancestor.

Don’t worry though, because only your HVR1 and HVR2 region results are listed in projects, as shown in the next section.

Benefits of Joining Projects

The great news is that even if you’ve just ordered your test and are waiting for results, you can research and join projects now.

Projects at Family Tree DNA provide testers with access to volunteer administrators to help as well as clustering users in projects that are meaningful to their research.

Mitochondrial DNA hap A project.png

The haplogroup A project is shown above with maternal earliest known ancestor (EKA) names as provided by testers.

Another important project feature is the project map function, allowing testers in a specific haplogroup to view the locations of the earliest known ancestors of other members of the same haplogroup – whether they match each other or not. Your ancestors traveled with theirs and descended from a common ancestor. Cool, huh!

Mitochondrial DNA hap A10 map.png

For example, here’s the haplogroup A10 cluster around Montreal. What’s the story associated with that distribution? Whatever it is, it’s probably important genealogically.

Mitochondrial DNA hap A5a1a1 map.png

Here’s haplogroup A5a1a1 in Japan.

Do you have clusters? You can see if you join relevant projects.

Another type of project to join is a geographical or interest group.

The Acadian AmerIndian Project welcomes descendants who have tested the Y, autosomal and/or mitochondrial DNA of the various Acadian families which includes French and English settlers along with First Nations indigenous ancestors.

Mitochondrial DNA Acadian Amerindian project.png

The map shows the distribution of the haplogroup A2f1a ancestors of various Acadian testers.

Mitochondrial DNA Acadian hap A2f1a map.png

Projects such as the Acadian AmerIndian Project facilitate genealogists discovering the haplogroup and information about their direct line ancestor without testing.

For example, if Anne Marie Rimbault, shown above, is my ancestor, by viewing and hopefully joining this project, I can harvest this information about my ancestor. I can’t personally test for her mitochondrial DNA myself, but thankfully, others who do descend matrilineally from Anne Marie have been generous enough to test and share.

Furthermore, I’ve contacted the tester through the project and gained a great cousin with LOTS of information.

Just think how useful mitochondrial DNA would be to genealogists if everyone tested!

Finding Projects to Join

I encourage all testers to join appropriate haplogroup projects. There may be more than one. For mitochondrial haplogroup J, there is only one project, but for those who carry haplogroup H, there is a haplogroup H project and many additional subgroup projects.

I also encourage you to browse the selections and join other interest projects. For example, there are projects such as Cumberland Gap which is regional, the American Indian project for people researching Native ancestry, in addition to your relevant haplogroup project(s).

When deciding which projects to join, don’t neglect your mitochondrial DNA. Your selection may be a huge benefit to someone else as well as to your own research.

How to Join Projects

Sign on to your personal page at Family Tree DNA and click on myProjects at the top, then on “Join A Project.”

mitochondrial dna project join.png

Next, you’ll see a list of projects in which your surname appears. These may or may not be relevant for you.

Mitochondrial project list

You can click to enlarge this image.

You can search by surname.

Mitochondrial project search.png

More importantly, you can browse in any number of sections.

Mitochondrial project browse.png

For mitochondrial DNA, I would suggest specifically mtDNA haplogroups, of course, along with mtDNA Geographical Projects, Dual Geographical Projects, and mtDNA lineage projects.

Surname projects are more challenging for mitochondrial DNA since the surname changes every generation.

When you find a project of interest, click to read the description written by the volunteer administrators to see if it’s a good fit for you, then click through to join.

Next Article in the Series

Of course, you’re probably wondering what all of those numbers in your results and shown in projects mean. The next article in about a week will address exactly that question.

Reference Articles

These articles may be of interest.

Mitochondrial DNA is often confused with X DNA, and they are not at all the same.

Mitochondrial DNA can quickly confirm or put to rest that Native American ancestor family story.

A great example of using mitochondrial DNA to break through a brick wall that would never have fallen otherwise!

If you haven’t yet tested, your can order your mtFull Sequence test today!

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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

 

DNA Day Prices and Vendors’ Best Features

DNA Day always produces great sales at the DNA testing companies. Here’s a breakdown of the prices available this week and the best autosomal feature of each vendor.

Company Regular Price Sale Price Ethnicity Matching to other testers Additional Tools Best Feature
FamilyTreeDNA – Family Finder *1 *2 79 49 Yes Yes Yes Maternal and paternal bucketing of matches without parents testing
MyHeritageDNA *5 79 59 Yes Yes Yes Theories of Family Relativity, triangulation
AncestryDNA *2 *6 99 69 Yes Yes Yes Data base size
23andMe Ancestry *3 99 99 Yes Yes Yes Ethnicity breakdown by chromosome segment
LivingDNA *4 99 59 Yes No *4 No Focus on British Isles

*1 – Family Tree DNA also sells both Y and mitochondrial DNA tests. For information on sale prices for those products, please see this article.

*2 – Sale ends April 25th.

*3 – The 23andme Ancestry plus Health test is on sale here for $169 versus the normal price of $199. Sale ends May 13th. Free shipping.

*4 – Sale expiration date not provided. LivingDNA’s matching has been in a very preliminary stage for months, and while I feel confident that eventually they will have viable matching, today matching should not be considered in a purchase decision.

*5 – Sale ends April 28th. Free shipping with purchase of 2 or more kits.

*6 – Free shipping through Amazon on Ancestry test at this link.

Test yourself and close family members (parents, aunts, uncles, cousins, grandparents, etc.), especially the older generations, to make full use of the tools and matching.

Fishing in all the ponds either directly or by transfer assures that you don’t miss that critical match.

Many of these prices only last 2 more days.

Enjoy!

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.

DNA Day Sale at Family Tree DNA

Family-Tree-DNA logo

Every year we look forward to Family Tree DNA’s DNA Day sale which starts today and ends April 25th.

This year, virtually everything is on sale – single tests, bundles of different tests, upgrades and even SNP packs for Y DNA testers.

For those who need a primer on the different kinds of tests, the article 4 Kinds of DNA for Genetic Genealogy is a quick read.

DNA Day 2019 single tests

Bundles are great values.

DNA Day 2019 bundles.png

If you’ve already taken a Y DNA test, now’s the time to upgrade!

DNA Day 2019 upgrades.png

I wrote about the Big Y-500 to Big Y-700 upgrade and what to expect here.

Know what you want already?

Click here to order!

If you’re a new customer, purchase from the main page.

If you already have an account, sign in and click on “Add Ons and Upgrades” at the top right above the banner on your personal page.

DNA Day 2019 upgrade button.png

Even SNP Packs for Advanced Y Testers are on Sale

Please note that if you have taken or upgrade to the Big Y test, you don’t need to purchase a SNP pack.

SNP packs are an upgrade for those men who have already tested Y DNA STR panels 12, 25, 37, 67 or 111 who seek to verify haplogroup branches on the Y tree without taking the Big Y test. The good news is that SNP packs are less expensive than the Big Y. The bad news is that SNP packs test only a fraction of the available SNPs and they make no new discoveries. If you’re uncertain about what to purchase, I would recommend talking to your surname or haplogroup administrator about your goals for testing.

My personal preference is for the Big Y-700 because of the advanced testing capabilities, the additional STR markers, additional matches and the fact that discoveries can be made with the Big Y test. In other words, new SNPs, meaning potential new haplogroups can be discovered with the Big Y, while SNP packs test existing SNPs to place a person further down on the tree.

If you’re interested in SNP packs, they are almost never on sale, but they are now.

DNA Day 2019 SNP pack.png

If you want to order a SNP pack, click here to sign on to your account, then click on the blue upgrade button beside your Y DNA results.

DNA Day 2019 Y upgrade button.png

Next, you’ll see several selections, so click on “Buy Now” under Advanced Tests.

DNA Day 2019 advanced test.png

Next, select SNP Pack.

DNA Day 2019 SNP pack select.png

Then choose the appropriate SNP pack for your haplogroup and testing goals.

No matter which tests you select, you’ll be enjoying the results and new matches soon!

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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 Testing and Transfers – What’s Your Strategy?

The landscape of genetic genealogy is forever morphing.

I’m providing a quick update as to which vendors support file transfers from which other vendors in a handy matrix.

Come join in the fun!

Testing and Transfer Strategy

Using the following chart, you can easily plan a testing and transfer strategy.

DNA Vendor Transfer Chart 2019

Click on image to enlarge.

Caveats and footnotes as follows:

1. After May 2016, the Ancestry test is only partly compatible, meaning you receive your closest matches (about 20-25% of the total) but won’t receive distant matches due to chip incompatibility. However, beginning in April 2019, when Family Tree DNA implemented the Illumina GSA chip, Ancestry files are receiving all matches.

2. The 23andMe December 2010 (V3) version is fully compatible. December 2013-August 2017 (V4) and August 2017 (V5) tests are partly compatible meaning you receive your closest matches (about 20-25% of the total) but won’t receive distant matches due to chip incompatibility. However, beginning in April 2019, when Family Tree DNA implemented the Illumina GSA chip, 23andMe V4 and V5 files are receiving all matches.
3. GedMatch has been working to resolve autosomal matching issues between vendor’s chips. Patience is a key word.
4. LivingDNA does not yet have full blown matching (I have one match), which has been in the testing phase for months, and has recently changed chip vendors.
5. Customer must extract the file using a file utility before it can be uploaded. LivingDNA indicates that they are working on a simpler solution.
6. Files transferred to LivingDNA must be in build 37 format.
4-12-2019 update – please note that MyHeritage does not accept 23andMe V2 files, only V3, V4 and V5.

Recommendations

My recommendations are as follows, and why:

Transfer Costs

Autosomal transfers and matching are free at the vendors who accept transfers, but payment for advanced tools is required.

  • Family Tree DNA – $19 one-time unlock fee for advanced tools
  • MyHeritage – $29 one-time fee for advanced tools
  • GedMatch – many tools free, but for Tier 1 advanced tools, $10 per month

All great values!

Please note that as vendors change testing chips and file formats, other vendors who accept transfers will need time to adapt. I know it’s frustrating sometimes, but it’s a sign that technology is moving forward. The good news is that after the wait, if there is one, you’ll have a brand new group of genealogy matches – many holding clues for you to decipher.

I’m in all of the databases, so see you there.

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.