Correlating Historical Facts to DNA Test Results

Posted on October 16, 2013 by Roberta Estes

Sometimes DNA tests hold surprising results, results that the individual didn’t expect. That’s what happened to Jack Goins, Hawkins County, Tn. Archivist and founder of the Melungeon Core DNA project. Jack, a Melungeon descendant through several ancestors, expected that his Y paternal haplogroup would be either European or Native American, based on oral family history, but it wasn’t, it was E1b1a, African.

Jack’s family and ancestors were key members of the Melungeon families found in Hawkins and Hancock Counties in Tennessee beginning in the early 1800s. In order to discover more about this group of people, which included but was not limited to his own ancestors, Jack founded the Melungeon DNA projects.

Over time, descendants of most of the family lines had representatives test within both a Y-line and mitochondrial DNA project. The results were a paper, Melungeons, A Multi-Ethnic Population, published in JOGG, the Journal of Genetic Genealogy, in April 2012.

Many people expected to discover that the Melungeons were primarily Native American, but this was not the outcome of the DNA project. In fact, many of the direct paternal male lines were African and all of the direct maternal female lines tested were European. While there are paper records, in one case, that state that one of the ancestors of the Melungeons was Native American (Riddle), and there is DNA testing of another line that married into the Melungeon families that proves that indirect line is Native American (Sizemore), there is no direct line testing that indicates Native ancestry.

Aside from the uproar the results caused among researchers who were hopeful of a different outcome, it also begs the question of whether the documents we do have of those families support the DNA results. What did the contemporary people who knew them during their lifetime think about their race? Census takers, tax men and county clerks? Are there patterns that emerge? Sometimes, when we receive new information, be it genetic or otherwise, we need to revisit our documentation and look with a new set of eyes.

It’s common practice in genetic genealogy circles when “undocumented adoptions” are discovered, for example, to revisit the census and look for things like a child’s birthdate being before the parents’ marriage. Something that went unnoticed during initial data gathering or was assumed to be in error suddenly becomes extremely important, perhaps the key to unraveling what happened to those long-ago ancestors. Like in all projects, some descendant lines we expected to match, didn’t.

Recently Jack Goins undertook such an analysis of the documentary records collected over the years in the various counties where the Melungeon families or their direct ancestors lived. We know that today, and in the 1900s, most of these families appear physically primarily European, an observation supported by autosomal DNA testing. So we’re looking for records that indicate minority admixture.

Do the records indicate that these people were black, Native, European, mixed or something else, like Portuguese? Was the African admixture recent, so recent that their descendants were viewed as mixed-race, or were the African haplogroups introduced long ago, hundreds or thousands of years ago perhaps, maybe in Mediterranean Europe? If that was the case, then the Melungeon ancestors in America would have been considered “European,” meaning they looked white. What do the records say about these families? Were they uniformly considered white, black, mixed or Native in all of the locations where family members moved as they dispersed out of colonial Virginia?

If these men were Native Americans, would they have likely fought against the Indians in the French and Indian War in 1754? Melungeon ancestors did just that and they are specifically noted as fighting “against the Shawnee.” Their families were found in census records as “free people of color” and “mulatto” countless times which indicates they were not slaves and were not white. On one later census record, below, in 1880, Portugee was overstricken and W for white entered.

Melungeon families and their ancestors were listed on tax records and other records as mulattoes, never as mustee and only once as Indian. Mulattoes are typically mixed black and white, although it can be Native and white, while mustee generally means mixed Indian with something else. On one 1767 tax list, Moses Riddle, a maternal ancestor of a Melungeon family is listed as Indian, but this is the only instance found in the hundreds of records searched. The Riddle family paternal haplogroup reflects European ancestry so apparently the Indian ancestor originated in a maternal line.

Court records identify Melungeon families as “colored” and “black” and “African” and “free negroes and mulattoes” as well as white. In the 1840s, a group of Melungeon men, descendants of these individuals classified as mulattoes and free people of color were prosecuted for voting, a civil liberty forbidden to those “not white,” and probably as a political move to make examples of them. Some of these men were found not guilty, one simply paid the fine, probably to avoid prosecution due to his advanced age, and the cases were dismissed against the rest. Some were also prosecuted for bi-racial marriage when it was illegal for anyone of mixed heritage to marry a white person. In earlier cases, in the 1700s in Virginia, these families were prosecuted for “concealing tithables” specifically for not listing their wives, “being mulattoes.” In another case, the records indicate an individual being referred to as ‘yellow complected,’ a term often used for a light skinned mulatto. And yet another case states that while the men were “mulattos,” their fathers were free and their wives were white.

There are many records, more than 1600 in total that we indexed and cataloged when writing the paper, and more have surfaced since. In all of those records, only one contemporaneous record, the 1767 Riddle tax list, states the person was an Indian. None, other than the 1880 census record, state that they were Portuguese. There are many that indicate African or mixed heritage, of some description, and there are also many that don’t indicate any admixture. Especially in later census, as the families outmarried to some extent, they were nearly uniformly listed as white. Still, this group of people looked “different” enough from their neighbors to be labeled with the derisive name of Melungeon.

While this group, based on mitochondrial DNA testing, did initially marry European women, generations of intermarriage would have caused the entire group to be darker than the nonadmixed European population in the 1700s and 1800s. By this time, neither they nor their neighbors were sure what they were, so they claimed Portuguese and Indian. No one claimed to have black ancestors, in fact, most denied it vehemently. By this time, so many generations had passed that they may not have known the whole truth, and there is indeed evidence of two Indian lines within the Melungeon community.

In light of these records, the DNA results should not have been as surprising as they were. However, this body of research had never been analyzed as a whole before.

Since the original paper was published, four additional paternal lines documented as Melungeon but without DNA representation/confirmation in the original paper have tested, and all four of them, Nichols, Perkins, Shoemake/Shumach and Bolin/Bolton carry haplogroup E1b1a. They are not matches to each other or other Melungeon paternal lines, so it’s not a matter of undocumented adoptions within a community.

The DNA project administrators certainly welcome additional participants who descend from the Melungeon families. Y-line DNA requires a male who descends from a patriarch via all males, given that males pass their Y chromosome to only sons.

There may indeed be Native American lines yet undiscovered within the female or ancestral lines, and we are actively seeking people descended from the wives of these Melungeon families through all women. Mitochondrial DNA, which tests the maternal line, is passed to both genders of children, but only females pass it on. So to represent your Melungeon maternal ancestor, you must descend from her through all females, but you yourself can be either male or female.

While the primary focus is still to document the various direct family lines utilizing Y-line and mitochondrial DNA, the advent of autosomal testing has opened the door for other Melungeon descendants to test as well. In fact, the project administrators have organized a separate project for all descendants who have taken the autosomal Family Finder test at Family Tree DNA called the Melungeon Families project.

The list of eligible Melungeon surnames is Bell, Bolton, Bowling, Bolin, Bowlin, Breedlove, Bunch, Collins, Denham, Gibson, Gipson, Goins, Goodman, Minor, Moore, Menley, Morning, Mullins, Nichols, Perkins, Riddle, Sizemore, Shumake, Sullivan, Trent and Williams. For specifics about the paternal lines, patriarchs and where these families are historically located, please refer to the paper.

Furthermore, anyone with documented proof of additional Melungeon families or surnames is encouraged to provide that as well. Surnames are only added to the list with proof that the family was referenced as Melungeon from a documented historical record or is ancestral to a documented Melungeon family. For example, the Sizemore family was never directly referred to as Melungeon in documented sources, but Aggy Sizemore (haplogroup H/European), daughter of George Sizemore (haplogroup Q/Native) married Zachariah Minor (haplogroup E1b1a/African). The Minor family is one of the Melungeon family names. So while Sizemore itself is not Melungeon, it is certainly an ancestral name to the Melungeon group.

For more information, read Jack Goins’ article, Written Records Agree with Melungeon DNA Results.

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Lovin’ My Cousins

Posted on October 14, 2013 by Roberta Estes

I use DNA every day of my life. Not only do I use it personally, but I utilize it for my clients. I love what it can do for us – but DNA is only a tool. A tool on a path – a path to your ancestors. But ancestors lead us to cousins. DNA is about cousins, finding them, getting to know them and then, yes, loving them. I know, you guys are all cringing now about the L-word and searching for the little X to close this screen. But it’s true – it’s about people – connecting to other people – both dead and alive.

My immediate family is small. I didn’t know my father’s family growing up and my mother had only one sibling. My own siblings are gone and the few children they had are scattered to the winds. It’s hard enough to keep up with my own kids. Many people are too busy to be interested in family, often until it’s too late. As one old woman in my family so succinctly once said, “If you can’t bother to come and see me while I’m alive, don’t bother when I’m dead.”

Maybe I discovered early the value of cousins since my own immediate family was so small. To connect, I had to reach out. I’ve been so very fortunate.

This past month, on a trip made possible by DNA (which I will be writing about shortly), here I am in the churchyard in England where our Speak ancestor’s family lived in the 1600s, with my cousin Mary. I love her, dearly.

And this is my cousin, Daryl, my sister of heart and my research travel companion. I met her through genealogy too, about a decade ago. Here, we’re wading in the creek descending from the Cumberland Gap, running through the Dodson ancestral land, on a very hot summer day during a research trip. DNA has taken us on an amazing journey that we never expected. We connect through the Dodson line.

And here in a slightly out of focus picture are my cousins Los, his beautiful daughter Landrii, and our cousin, Denise, of whom I’m extremely proud. Just look how happy we are. We were giddy with delight that day when we finally met.

This photo was taken in June 2011 at the Cumberland Gap Homecoming, coordinated by the Cumberland Gap DNA project members. Our Herrell family lived near the Cumberland Gap where we met face to face for the first time. A wonderful event, and Los drove from Louisiana alone with two toddlers to be able to attend. Bless his heart. (That’s the southern in me coming out.) Denise flew in from the west coast. Unfortunately, we live far apart but I can keep up with Los, his beautiful kids, and Denise electronically and via Facebook.

And this is only the beginning of the “I Love My Cousins” list – it goes on – and I meet new cousins almost every day now. I’m amazed at how many people I’m related to, how large my extended family really is. Fortunately, love isn’t a limited commodity!

Indeed, I’m grateful every single day for genealogy and DNA which connected me, and connects me, with my cousins. They pop up in the most unexpected places. Just this week, for example, I discovered when doing a DNA report for a client that I’m related to them, not once, but twice. My quilt group, related to 2 of 5 people. Someone I worked with on a special project a couple years ago, we recently DNA matched and discovered that we share a common Lemmert line out of Germany. And Yvette Hoitink, the Dutch professional genealogist I hired to help me with the Dutch records, yep, we’re related genetically on our mother’s sides. Reach out – you’ll find cousins too! You never know who just might be one.

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Mitochondrial DNA Convergence and Matches

Posted on October 11, 2013 by Roberta Estes

Every now and then, when I’m doing DNA reports, I run across the perfect example of a DNA phenomenon. Today, it was a mitochondrial DNA mutation in motion. Let’s take a look at what happened, how it was discovered and what it means.

I was contacted a few weeks ago by someone I had been working with on another project. This woman, we’ll call her June, was concerned because both she and her maternal first cousin, Doris, had both taken mitochondrial DNA tests at Family Tree DNA and they didn’t match each other. I took a look, of course, and sure enough, at the HVR1 level, there was one mutation difference, at location T16271C.

This was particularly interesting, because at the first cousin level, these women shared a maternal grandmother, which means that either June’s mother or Doris’s mother had had a mutation in their mitochondrial DNA, or June or Doris did. June asked me how she could tell who had the mutation.

I asked if either June or Doris had siblings. June had a brother, John, so she ordered a kit for John. If John matched June, then their mother is the one who had the mutation. If John matched Doris, then June herself had the mutation.

How do I know this, that the mutation didn’t happen in Doris or her mother? Because the mutation is not “normal” and is listed in the RSRS values in the “extra mutations.”

Furthermore, Doris, who did not carry the extra mutation, had 13,204 matches at the HVR1 level (haplogroup H), where June who did carry the extra mutation only had 41. Clearly to be useful, genealogically, this test would need to be expanded to the full sequence level.

So June’s brother, John, tested and he matched his sister June, telling us that their mother carried this mutation, and gave it to both of her children. So the mutation occurred between June’s mother and June’s grandmother.

Are These Matches Valid?

June asked me if her matches were valid.

That’s a tough question to answer, because convergence has occurred.

So let me answer this in two ways.

The matches are technically accurate. This means that indeed she matches all 41 of the people that the matching routine shows as her exact HVR1 matches. So in that way, those matches are accurate, but they aren’t valid or meaningful for genealogy.

They aren’t useful, because we know, beyond a doubt that these matches are not related to her in a very long time, probably back into prehistory, because the reason she matches them at the HVR1 level is because she just happened to have the same mutation that all 41 of them carry. Carrying the same mutation does NOT absolutely mean you share a common ancestor who carried that mutation. Mutations can occur at any time, and if a mutation happens at this location in the mitochondrial DNA, there is a 1 in 3 chance the person who has the mutation will have the same value as you, since there are only 4 choices, T, A, C, and G, to begin with. This is what we call convergence, and you’ve just seen it happen. People match each other, but because they happened to have the same spontaneous mutation, not because they share a common ancestor who had that mutation. Most of the time, we don’t know whether we are looking at real matches or matches by convergence, but this time, we know for sure, because we can prove that June’s grandmother did not have the mutation, because June’s first cousin, Doris, does not.

So, if June’s HVR1 results aren’t useful to her, whose are? That’s easy, her cousin Doris’s results are representative of the mitochondrial DNA of their mutual grandmother, so Doris’s matches are actually June and John’s ancestral matches as well.

Could There Be A Fly in the Ointment?

Not matching someone you thought you should match is unsettling. Could we test someone else to be absolutely positive we’re not dealing with a back mutation?

Certainly, if grandmother had another female child who had children, or if grandmother has a living male child, they can be tested too. The test on the third child would positively confirm grandmother’s mitochondrial DNA values.

Could we prove positively that the first cousins are actually first cousins, to remove any nagging doubt?

Certainly, using the Family Finder test.

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DNA Testing for Genealogy 101

Posted on October 6, 2013 by Roberta Estes

When I first began as a surname administrator for the Estes project, more than a decade ago, I wrote an “intro” basics document for anyone who might be interested in testing. This saved me from having to repeat myself again and again. I believe this is the 8^th version of that document. Genetic genealogy keeps changing, for the better, with more tests and tools available, so more to explain.

DNA testing for genealogy didn’t exist a few years ago. In 1999, the first tests were performed for genetic genealogy and this wonderful tool which would revolutionize genealogy forever was born into the consumer marketplace from the halls of academia, thanks to one very persistent genealogist, Bennett Greenspan, now President of Family Tree DNA.

Initially we had more questions than answers. If it’s true that we have some amount of DNA from all of our ancestors, how can we tell which pieces are from which ancestor? How much can we learn from our DNA? Where did we come from both individually and as population subgroups? How can DNA help me knock down those genealogy brick walls?

In just a few short years, we have answers for most of these questions. However, in this still infant science we continue to learn every day. But before we discuss the answers, let’s talk for just a minute about how DNA works.

DNA – The Basics

Every human has 23 pairs of chromosomes (think of them as recipe books), which contain most of your DNA, functional units of which are known as genes (think of them as chapters). One chromosome of each pair comes from a person’s mother and the other from their father. Due to the mixing, called recombination, of DNA that occurs during meiosis prior to sperm and egg development, each chromosome in 22 of the 23 pairs, which are known as autosomes, has DNA (think of it as ingredients) from both the corresponding parent’s parents (and their ancestors before them).

Two portions of our DNA are not combined with that of the other parent. The 23^rd chromosome, in the box above, determines the sex of the individual. Two X chromosomes produce a female and an X and a Y chromosome produce a male. Women do not have a Y chromosome (otherwise they would be males) so they cannot contribute a Y chromosome to male offspring. Given this scenario, males inherit their father’s Y chromosome unmixed with the mother’s DNA, and an X chromosome from their mother, unmixed with their father’s DNA.

This inheritance pattern is what makes it possible for us to use the Y chromosome to compare against other men of the same surname to see if they share a common ancestor, because if they do, their Y chromosome DNA will match, either exactly or nearly so, because it has been passed intact directly from those paternal ancestors.

Autosomal DNA, X chromosomal DNA and, in males, Y chromosomal DNA are all found in the nucleus of a cell. A fourth type of DNA call mitochondrial DNA, or mtDNA for short, resides within cells but outside the cell’s nucleus. Mitochondrial DNA packets are the cell’s powerhouse as they provide the entire body with energy.

For both genders, mitochondria DNA is inherited only from the mother. Men inherit their mother’s mtDNA, but do not pass it on to their offspring. Women have their mother’s mtDNA and pass it to both their female and male offspring. Given this scenario, women inherit their mother’s mtDNA unmixed with the father’s and pass it on generation to generation from female to female. This inheritance pattern is what makes it possible for us to compare our mitochondrial DNA with that of others to determine whether we share a common maternal ancestor.

Autosomal DNA, the rest of your DNA, those other 22 chromosomes that are not the X/Y chromosome and not the mitochondrial DNA, tends to be transferred in groupings, which ultimately give us traits like Mother’s blue eyes, Grandpa’s chin or Dad’s stocky build. Sometimes these inherited traits can be less positive, like deformities, diseases or tendencies like alcoholism. How this occurs and what genes or combinations of genes are responsible for transferring particular traits is still being deciphered.

Sometimes we inherit conflicting genes from our parents and the resolution of which trait is exhibited is called gene expression. For example, if you inherit a gene for blue eyes and brown eyes, you can’t have both, so the complex process of gene expression determines which color of eyes you will have. However, this type of genetics along with medical genetics does not concern us when we are using genetics for genealogy. Let’s focus initially on the unrecombined Y chromosomal DNA, called Y DNA for short, and mtDNA as genealogical tools.

How Can Unrecombined DNA Help Us With Genealogy?

I’m so glad you asked.

During normal cell combination, called meiosis, each ancestor’s autosomal DNA gets watered down or divided by roughly half with each generation, meaning each child gets half of the DNA carried by each parent.

However, that isn’t true of the Y DNA or mtDNA. In the following example of just 4 generations, we see that the Y DNA, the blue box on the left, is passed down the paternal line intact and the son has the exact same Y DNA as his paternal great-grandfather.

Similarly, the round red doughnut shaped O represents the mitochondrial DNA (mtDNA) and it is passed down the maternal side, so both the daughter and the son will have the exact same mtDNA as the maternal great-grandmother (but only the female child will pass it on).

The good news is that you may well have noticed that the surname is passed down the same blue paternal path, so if this is a Jones family, the Y DNA travels right along with the surname. How it can help us with genealogy now becomes obvious, because if we can test different male descendents who also bear the Jones surname, if they share a common ancestor somewhere in recent time (the last several hundred years), their DNA will match, or nearly so. Surname projects have been created by volunteer administrators at Family Tree DNA to facilitate coordination and comparison of individuals carrying the same or similar surnames.

Mitochondrial DNA (mtDNA) is useful as well, but not as easily for genealogical purposes since the maternal surname traditionally changes with each generation.

There have been several remarkable success stories using mitochondrial DNA, but they are typically more difficult to coordinate because of the challenges presented by the last name changes. Sometimes joining regional projects is more useful for finding mtDNA matches than joining surname projects. A case in point is the Cumberland Gap projects, both Y DNA and mtDNA, which have helped many people whose families lived in close proximity of the Cumberland Gap (at the intersection of Va., Tn. and Ky.) connect with their genetic cousins. What mtDNA as well as Y DNA testing can easily do for us is to confirm, or put to bed forever, rumors of Native American, European, African or Asian ancestry in that direct line.

What About Mutations?

Another really good question.

Y DNA testing actually tests either 12, 25, 37, 67 or 111 locations on the Y chromosome, depending on which test you select. What is actually reported at these locations is the number of exact repeats of that segment of DNA. Occasionally, either a segment is dropped or one is added. This is a normal process and typically affects nothing. However, for genealogy, these changes or mutations are wonderful, as the number of segments in a particular location will typically be the same from generation to generation. These mutations differentiate us and our families over time. Without mutations, all of our DNA would look exactly alike and there would be no genetic genealogy.

For mitochondrial DNA, you can test at the entry level, the intermediate “plus” level and at the full sequence level. If you think of the full sequence level, which tests the entire mitochondria, as a clock face, the entry level test tests from 5 till the hour to “noon” so from 11AM to 12 on the clock face. The second intermediate level tests from “noon” to 5 after, or 1PM. The full sequence level tests the entire clock face. Ultimately, if it’s matches you’re looking for, you’ll want the full sequence test to provide you with the best matches and the ones closest to you in time, plus it provides you with your full haplogroup, or clan, designation.

When a change, called a mutation, does occur at a particular location, it is then passed from father to son (or mother to daughter) and on down that line. That mutation, called a “line marker mutation” is then forever associated with that line of the family. If you test different males with the same surname, and they match except for only a couple of minor differences, you can be assured that they do in fact share a common ancestor in a genealogically relevant timeframe.

A father can potentially sire several sons, some with no mutations, and others with different mutations, as shown by the red mutation bar in the following illustration.

In the above example, John Patrick Kenney had two sons, one with no mutation and Paul Edward Kenney who had one mutation. All of the male descendents of Paul Edward Kenney have his mutation and a second mutation is added to this line at a new location in the generation above Stan Kenny.

John Patrick Kenney’s son who had no mutations sired a son Joseph Kenney, who had a mutation in yet a different location than either of the mutations in the Paul Edward Kenney line.

In the span of time between 1478 and 2004, this grouping of Kenney/Kenny families has accumulated 4 distinct lines as you can see across the bottom of the diagram, line 3 with no mutations, line 1 with 2 mutations, and two other lines with only one mutation each, but those mutations are not in the same location so they are easily differentiated in descendants testing today. These are called “line marker” mutations and allow testers to quickly and easily see which line of the Kenny family they descend from.

What Do the Results Look Like?

Y DNA results are reported in the following format at Family Tree DNA where locus means the location number, the DYS# means the name of that marker location, and the number of alleles means the number of repeats of DNA found in that location. This is a partial screen shot from the Family Tree DNA results page for a participant.

This is interesting, but the power of DNA testing isn’t in what your numbers alone look like, but in how they compare with others of similar surnames. So, you’re provided with a list of people that you match, along with access to their Gedcom file if they have uploaded one, most distant ancestor information, and most importantly, their e-mail address by clicking on the little envelope right after their name.

As a DNA Surname Project Administrator of several projects, I combine the groupings of participants into logical groupings based on their DNA patterns and their genealogy. Haplogroup projects are grouped by subgroup and mutations, and surname projects are grouped by matching family group.

The following table is an example from my Estes surname project which has very successfully identified the various sons of the immigrant ancestor, Abraham Estes born in 1647. Based on his descendent lines’ DNA, we have even successfully reconstructed what Abraham’s DNA looked like, shown in green, through a process called triangulation, so we have a firm basis for comparison, and everyone is compared to Abraham. Mutations are highlighted in yellow.

I have shown only an example of the full chart below. Moses through John R’s line does have line marker mutations on markers that are not shown here. Elisha’s line matches Abraham’s exactly. We have had 4 descendents test from various sons of Elisha and so far we have found no mutations.

To form a baseline within a family, we generally test two individuals from two separate lines of the common ancestor, just in case an undocumented adoption has occurred. If these two individuals match, except for minor mutations, then we know basically what the DNA of your ancestor looks like and others can then test and compare results against that established line.

If you’re a female and can’t test for Y DNA markers, you’re not left out. You’ll need to use traditional genealogy to find male lineal descendants of your ancestor that carry the family name. Consider offering a scholarship for a descendent of that line to be tested and then advertise on Rootsweb lists and boards, on Yahoo groups, on Facebook and anyplace else that you think would be effective.

Mitochondrial results look slightly different from Y DNA, but the match information is in essence the same.

What Else Can We Tell?

The results of your tests not only tell you about your genealogy, they can also tell you about your deep ancestry and identify your deep ancestral clan.

Have you ever wondered where your ancestors came from before contemporary times? We know that for the most part surnames did not exist before 1066, and in some places did not exist until much later. The likelihood of us ever knowing where our ancestors were prior to 1066, unless we are extremely lucky, is very remote using conventional genealogical research methods.

However, now with the results of our DNA, we can peer through that keyhole and unlock that door. Based on the results of our tests, and the relative rarity of the combined numbers, humans are grouped together in clans called haplogroups. We know who was a member of which clan by both the tests shown above and a different kind of test, called a SNP (pronounced snip) test.

Population geneticists use this type of information to determine how groups of people migrated, and when. We may well be able to tell if our clan is Celtic, or Viking, African, Native American or related to Genghis Khan, for example. Based on our clan type, we may be able to tell where our group resided during the last ice age, and then trace their path from there to England or America over hundreds or thousands of years. While this sounds farfetched, it certainly isn’t and many people are discovering their deep ancestry. For example, we know that the Estes clan wintered the last ice age in Anatolia, and we know this because that is where other people who have this very rare combination of marker values are found in greater numbers than anyplace else on earth.

How Can I Test My Family?

It’s easy to get started. For Y DNA testing, you only need one male volunteer that carries your surname who is descended from your oldest progenitor by the same surname. To order a test kit, be sure to join a surname project for the best pricing. You can check on various surname projects by going to www.familytreedna.com and entering the surname in the search box on the right hand side of the page where it says “Search Your Last Name.”

I searched for Estes and the information returned tells me how many people, both male and female, have tested with that surname, if an Estes project exists, and the link, and any other projects where the administrator has specifically entered the Estes surname. So join the surname project and be sure to check out any others shown.

Anyone, males or females can test their mitochondrial DNA. To test your own mitochondrial DNA, just order a test kit, and then follow the branch on your pedigree chart directly up your maternal line of the tree (your mother, her mother, her mother, etc.) to see whose mitochondrial DNA you carry.

Autosomal, the Third Kind of DNA Testing

In the past two or three years, autosomal DNA testing has really come into its own. This type of testing does not focus on one line, like the Y-line DNA focuses only on the direct paternal surname line and the mitochondrial focuses only on the direct maternal line. The Y DNA and mtDNA are wonderful tests and provide you with huge amounts of information, but they can’t tell you anything about your other lines…not unless you can find a cousin from that other surname line and beg to have his or her DNA tested. This process (the testing, not the begging) is called building your DNA pedigree chart.

You can see an example of my DNA pedigree chart below. Being a female, I obviously can’t test for any Y DNA lines, so I had to find cousins to test for those lines. I can test for the direct mitochondrial line, but that still leaves most of the 14 great-great-grandparents with no information at all. By mining surname projects and begging cousins to test, I have filled in a number of these slots, but certainly not all.

But the time comes that you can’t complete the chart, or you have other genealogy questions to answer, and you’ll need to move to the third type of DNA testing, autosomal.

Autosomal testing provides you with two primary features.

First, autosomal testing provides you with percentages of ethnicity. This may or may not excite you. Understand that when you’re looking for that elusive Native American great-great-great-grandmother, that you may or may not carry enough or a large enough piece of her DNA to be identified. But you’ll never know if you don’t test.

Second, you receive a list of cousin matches. These are people who match you on your autosomal results. This means that they are related to you on one line or another. It’s up to you to figure out which line, but there are tools and techniques to utilize. You probably won’t recognize the names of most of your matches, and you may or may not recognize a common ancestor. In some cases, the genealogy isn’t far enough back or there are other challenges in identifying a common ancestor. However, some huge brick walls have fallen for people and continue to fall daily by using autosomal tools to identify common ancestral families.

I wrote a series on “The Autosomal Me” which describes in detail how to utilize your Autosomal results.

Ok, now you’re convinced. You want to see who you match and meet those new cousins just waiting.

Summary – Who Can Test For What???

Just to be sure we all understand, here’s a handy chart that summarizes who can test for what at Family Tree DNA and what you discover!

What About The Test…

You may wonder why I recommend Family Tree DNA for testing. It’s simple. They are the only DNA testing company that offers the full range of tests and tools needed by genetic genealogists. They are the oldest company and have the largest data base, in addition to tools that facilitate using multiple types of test results together. Family Tree DNA has been wonderful to work with, sponsors free surname, haplogroup, geographic and special interest projects and are infinitely patient and extremely helpful. They are also a partner to the National Geographic Society and participants from the Genographic project can transfer results into the Family Tree DNA database for free.

Testing is done at Family Tree DNA using a cheek swab that looks like a Q-tip.

A test kit is shown above. Just swab the inside of your cheek, put the swab back in the vial and mail back to the lab. It’s that easy.

To see someone collecting a sample from receiving the envelope in the mail to mailing it off again, click here http://www.davedorsey.com/dna.html.

Receiving your Results

After you receive your Y DNA or mitochondrial results at Family Tree DNA on your personal page, please consider our Y-Line or Mitochondrial DNA Personal DNA Reports. Family Tree DNA customers who have minimally tested at 37 markers for the Y DNA or the mtDNA full sequence for mitochondrial can also order their reports directly through Family Tree DNA on their personal page.

What you discover from your own DNA will be priceless – and there is no other way to make these discoveries other than DNA testing. Your DNA results are notes in bottles that have sailed over time from your ancestor to you. Begin your adventure today, open that bottle and see what secrets your ancestors sent!

Be sure to sign up for the this blog to keep current with genetic genealogy. There is great introductory and educational material there as well, and it’s free. You can sign up by clicking on the little grey “follow” button in the upper right hand corner of the main blog page.

Happy ancestor hunting!!!

23andMe Patents Technology for Designer Babies

Posted on October 5, 2013 by Roberta Estes

I try very hard to stay away from politics, religion and ethical discussions. My Hoosier farmer Dad used to say opinions about those topics are like a certain body part, everyone has one and they all stink.

Today, however, I’m going to violate my own rule because willingly or not, by own DNA has been drug into this arena – without my direct knowledge – and so has yours if you have tested with 23andMe.

23andMe has patented the technology for making designer babies, but has stated that they don’t intend to use it. If you’re scratching your head about now, so was I.

This Fox News article explains about 23andMe’s patent application and recent approval.

They also report that 23andMe claims they have no plan to implement this system, confirmed by a quote from 23andMe. If you’re thinking that makes no sense at all, you’re not alone. Kind of reminds me of an alcoholic purchasing alcohol but claiming they have no intention of drinking it, a pedophile purchasing kiddie porn and claiming they have no intention of viewing it, a burglar caught with burglary tools and claiming they aren’t going to use them or maybe in a less sinister vein, a cat chasing a mouse and claiming they have no intention of catching it. Yeah, right.

An article in Genetics in Medicine elaborates further. This article explains how the designer baby process takes place.

“Taken out of “patentese,” what 23andMe is claiming is a method by which prospective donors of ova and/or sperm may be selected so as to increase the likelihood of producing a human baby with characteristics desired by the prospective parents, the selection being based on a computerized comparison of the genotypic data of the egg provider with that of the sperm provider.”

Clearly, very few people would have an issue with this technology if it were utilized to only deselect mixtures which would produce children with serious genetic diseases for at-risk couples. However, utilizing this technique to produce designer children based on the whim of their parents could be another matter altogether, and to many people, crosses the murky line of what is and is not appropriate or acceptable, for whatever reason. It’s not my intention here to debate the ethics of this technology or technique. I can’t help but think, however, of the Chinese today who have a “one child policy,” only allowing one child per family which has led to sex selection in an attempt for families to assure that one child is a male. Worse yet, I’m reminded of Hitler’s horrific genocide, the Holocaust, based on, in part, physical traits.

What does 23andMe themselves have to say about this? On their May 28^th 2012 blog, they announced their Parkinson’s patent. In that announcement they stated that they “have a research arm with more than 20 scientists dedicated to making meaningful discoveries that will improve the lives of all of us.”

On October 1, 2013, their blog announced their second patent, the “designer baby” patent and states the following:

“Last week, 23andMe was awarded a patent for which we applied more than five years ago, and which relates to one of the tools we offer individuals as part of their genetic exploration. The tool — Family Traits Inheritance Calculator — offers an engaging way for you and your partner to see what kind of traits your child might inherit from you. The Family Trait Inheritance Calculator has also been part of our service since 2009 and is used by our customers as a fun way to look at such things as what eye color their child might have or if their child will be able to perceive bitter taste or be lactose intolerant. The tool offers people an enjoyable way to dip their toes into genetics.”

Here’s a look at 23andMe’s Family Inheritance Calculator. The categories reported are bitter taste perception, lactose intolerance, earwax, eye color, muscle performance and alcohol flush reaction. Certainly, this looks innocuous enough.

Utilizing a screen shot from two family members, the first column displays the child’s genes, the second, one parent’s, and the final column predicts the resulting outcome of that trait in the child. In this case, the child has brown eyes, wet earwax, doesn’t run and has no alcohol flush reaction.

So if you’ve been dangling your toes in the water and thought you were just having fun, well, there might be something much more sinister under the water, depending on your perspective and your toes, well, they might just be bait.

The final paragraph in the Genetics in Medicine article sums this situation up quite well.

“What makes this case even more surprising is the fact that 23andMe is no stranger to controversy regarding its patenting activities. In the days following its May 2012 announcement on the company blog that it was to be granted a US patent for a test for propensity to develop Parkinson disease, the blog was filled with reactions of upset customers, the providers of the genetic and phenotypic data which constitutes 23andMe’s biobank. Since 23andMe is a commercial entity, clearly intended to bring profit to its investors at some stage at least, its attempts to seek patents are not surprising. Moreover, such attempts are not inherently problematic. However, for a company that invites audience participation, and so needs customers and their goodwill to maintain and expand its most valuable asset, i.e., its biobank, it is surprising that, following the uproar that greeted the announcement of its Parkinson disease patent, 23andMe has pursued this patent with no apparent public discussion. For instance, do the consumers who have also allowed 23andMe to use their genotypic data for the research conducted by the company agree with the use of their information for the purpose of developing a method for gamete donor selection? Public trust is central to the continuing success of human genetics research in general and biobank-based research in particular. We urge maximal transparency by all engaged in human genetics research.”

Customers are the Biobank

Herein lies the problem. I’m one of those consumers and I had no idea whatsoever that this research was underway. That makes it clandestine at worst and certainly not transparent at best. My DNA, along with all of their other clients who constitute their “biobank” was used for this research which has now been patented in the form of “designer baby” technology. I’m not going to say publicly whether I’m in favor of or opposed to designer babies, per se, but I’m going to say that I’m extremely uncomfortable discovering that this is what was being done with my DNA. I’m not happy – really not happy.

When I purchased my DNA test at 23andMe, it was for genealogy, although I have clearly benefitted from the health traits aspects too. I have been a willing participant in several surveys, including the ones about Parkinsons. My mother had Parkinsons, at least we think she did, as Parkinsons is a diagnosis by excluding other possible diseases. In other words, there is no test for Parkinson’s disease itself. My thoughts of course when I’ve taken these surveys about diseases, traits and such is that the research would be utilized in identifying genetic sources and then perhaps treatments or drugs to cure those diseases. I fully expected the treatments to be patented, but I did not expect the genetic aspects, or the genes themselves, to be patented.

In all fairness, I did give consent and I knew that their primary focus is and was medical research. However, I didn’t expect they would utilize my DNA for this. I trusted and had confidence in them. Now I don’t.

Consenting for What?

Here’s a link to their consent form. The first paragraph says “23andMe aims to make and support scientific discoveries and publish those discoveries in scientific journals.” Hey, I’m good with that. In fact, I applaud it. A patent is not a scientific journal article.

Looking further, under item 5, under Benefits, it says, “23andMe may develop intellectual property, including but not limited to patents, copyrights and trademarks, and/or commercialize products or services, directly or indirectly, based on the results of this study, and in such cases you will not receive any compensation.” I don’t quite understand how that is a benefit to me, at least not directly. But it does say the word, patent. It’s just that, well, I expected the patents to be related to disease cures, like cancer and Parkinsons and things like that, not designer babies. Designer babies clearly have been a priority for them, and they have been working very quietly, too quietly, on this for a long time. The patent was applied for in 2008. Discussion about their Parkinsons research is all over their website, but not a peep about their designer baby research. Why is that?

Recently, the Supreme Court struck down a similar patent on the Breast Cancer Genes. This patent is different in that it doesn’t directly patent the genes themselves, but the gamete selection technique, as best I can tell.

Customer Options

What can I, as a consumer, do? I’m very uncomfortable now with 23andMe and their priorities. I feel that we as consumers, their customers, have been betrayed. I feel that they have compromised their own integrity by focusing on designer babies for the wealthy who want to select eye color instead of on disease cures for the masses, which is what I expected would be done with my DNA. I’m wondering what other things they are working on that I will find equally as objectionable.

This isn’t a debate about the ethics of designer babies, but a discussion about how my, and your, DNA is being utilized.

What can I do? I still want the genealogy matching services, but I no longer want to participate in their medical research. According to the consent form, customers do have an option to withdraw. Here is what that says:

“Your alternative is not to participate in the 23andWe research study…If you choose not to give consent for 23andWe research, your Genetic & Self-Reported Information may still be used for other purposes, as described in our Privacy Statement.

At any time, you may choose to withdraw all or some of your Genetic & Self-Reported Information from 23andWe research by changing your consent status within the 23andMe “Settings” page or by sending a request to the Human Protections Administrator at hpa@23andme.com. You will still be allowed full access to the Personal Genome Service®, but 23andMe will prevent the requested information from being used in new 23andWe research occurring after 30 days from receipt of your request. Any research on your data that has been performed or published prior to this date will not be reversed, undone, or withdrawn. Your Genetic & Self-Reported Information may still be used for other purposes as described in the 23andMe Privacy Statement.

Choosing not to give consent or withdrawing from 23andWe will not affect your access to your Genetic Information or to the Personal Genome Service®.

You may also discontinue participation by closing your Personal Genome Service® account, as described in the Terms of Service. Requests for account closure must be made in writing to 23andMe’s business address or via Customer Care.”

Hmm, it says that even if I withdraw, they can still use some information. I did as they suggested, and consulted the Privacy Statement. I’m not a lawyer, but this paragraph seems to suggest that regardless, they can use at least some of my information anyway.

They state: “If you do not give your consent to participate in 23andWe Research, 23andMe may still use your Genetic and Self-Reported Information for purposes such as quality control or other R&D activities. Genetic and Self-Reported Information used for such purposes may be included in Aggregated Genetic and Self-Reported Information disclosed to third-party research partners who will not publish the information in a peer-reviewed scientific journal. Research partners may include commercial or non-profit organizations that conduct or support scientific/medical research or conduct or support the development of drugs or devices to diagnose, predict, or treat health conditions.”

So, the net-net of this seems to be that my only recourse if I really don’t want my DNA utilized is to close my account entirely – and even then, I’m not at all sure that they don’t retain my information and utilize it. Maybe Judy Russell or Blaine Bettinger could provide a better legal review.

What I’m Doing

Let me tell you what I am going to do.

1. I’m going to change my settings to prevent my DNA from being utilized in further research, and I’m not going to answer any more surveys until I feel much better about what 23andMe is doing, if ever. In fact, I was going to show you how to do this too, if you’re interested. However, after logging into 23andMe, the “settings” page is not in evidence since their last page reorganization, nor can it be found by searching, and neither is the “gear” that used to be the gateway to settings, so I will be e-mailing their Human Projects Administrator at hpa@23andMe.com. This settings page required to withdraw should be obvious.

Edit – Update – The Settings Option is a dropdown from your name after you sign into 23andMe. Then click on Privacy/Consent.

2. Furthermore, I will no longer be recommending that people test at 23andMe without a very strong caveat and a link to this posting.

3. I’ve removed their link from my blog sidebar. Poof – gone.

What Do You Think?

I invite your input? What do you think? How do you feel? What are you going to do?

______________________________________________________________

Disclosure

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Ethnicity Results – True or Not?

Posted on October 4, 2013 by Roberta Estes

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I can’t even begin to tell you how many questions I receive that go something like this:

“I received my ethnicity results from XYZ. I’m confused. The results don’t seem to align with my research and I don’t know what to make of them?”

In the above question, the vendors who are currently offering these types of results among their autosomal tests are Family Tree DNA, 23andMe and Ancestry along with National Geographic who is a nonprofit. Of those four, by far, Ancestry is the worst at results matching reality and who I receive the most complaints and comments about. I wrote an article about Ancestry’s results and Judy Russell recently wrote an article about their new updated results as did Debbie Kennett. My Ancestry results have not been updated yet, so I can’t comment personally.

Let’s take a look at the results from the four players and my own analysis.

Some years back, I did a pedigree analysis of my genealogy in an attempt to make sense of autosomal results from other companies.

This paper, Revealing American Indian and Minority Heritage Using Y-line, Mitochondrial, Autosomal and X Chromosomal Testing Data Combined with Pedigree Analysis was published in the Fall 2010 issue of JoGG, Vol. 6 issue 1.

The pedigree analysis portion of this document begins about page 8. My ancestral breakdown is as follows:

Geography	Percent
Germany	23.8041
British Isles	22.6104
Holland	14.5511
European by DNA	6.8362
France	6.6113
Switzerland	.7813
Native American	.2933
Turkish	.0031

This leaves about 25% unknown. However, this looks nothing like the 80% British Isles and the 12% Scandinavian at Ancestry.

Here are my current ethnicity results from the three major testing companies plus Genographic.

Ancestry

80% British Isles

12% Scandinavian

8% Uncertain

Family Tree DNA

75% Western Europe

25% Europe – Romanian, Russian, Tuscan, Finnish

23andMe (Standard Estimate)

99.2% European

0.5% East Asian and Native American

0.3% Unassigned

Genographic 2.0

Northern European – 43%

Mediterranean – 36%

Southwest Asian – 18%

Why Don’t The Results Match?

Why don’t the results match either my work or each other?

1. The first answer I always think of when asked this question is that perhaps some of the genealogy is incorrect. That is certainly a possibility via either poor genealogy research or undocumented adoptions. However, as time has marched forward, I’ve proven that I’m descended from most of these lines through either Y-line, mitochondrial DNA or autosomal matches. This confirms my genealogy research. For example, Acadians were originally French and I definitely descend from Acadian lines.

2. The second answer is time. The vendors may well be using different measures of time, meaning more recent versus deep ancestry. Geno 2.0 looks back the furthest. Their information says that “your percentages reflect both recent influences and ancient genetic patterns in your DNA due to migrations as groups from different regions mixed over thousands of years. Your ancestors also mixed with ancient, now extinct hominid cousins like Neanderthals in Europe and the Middle East of the Denisovans in Asia.”

It’s difficult to determine which of the matching populations are more recent and which are less recent. By way of example, many Germans and others in eastern Europe are descendants of Genghis Khan’s Mongols who invaded portions of Europe in the 13^th century. So, do we recognize and count their DNA when found as “German,” “Polish,” “Russian,” or “Asian?” The map below shows the invasions of Genghis Khan. Based on this, Germans who descend from Genghis’s Mongols could match Koreans on those segments of DNA. Both of those people would probably find that confusing.

3. The third answer is the reference populations. Here is what National Geographic has to say: “Modern day indigenous populations around the world carry particular blends of these regions. We compared your DNA results to the reference populations we currently have in our database and estimated which of these were most similar to you in terms of the genetic markers you carry. This doesn’t necessarily mean that you belong to these groups or are directly from these regions, but that these groups were a similar genetic match and can be used as a guide to help determine why you have a certain result. Remember, this is a mixture of both recent (past six generations) and ancient patterns established over thousands of years, so you may see surprising regional percentages.”

Each of the vendors has compiled their own list of reference populations from published material, and in the case of National Geographic, as yet unpublished material as well.

If you read the fine print, some of these results that at first glance appear to not match actually do, or could. For example, Southwest Asia (Geno 2.0) could be Russia (Family Tree DNA) or at least pointing to the same genetic base.

This video map of Europe through the ages from 1000AD to present will show the ever changing country boundaries and will quickly explain why coming up with labels for ethnicity is so difficult. I mean, what exactly does “France” or “Germany” mean, and when?

4. The fourth answer is focus. Each of these organizations comes to us as a consumer with a particular focus. Of them, one and only one must make their way on their own merits alone. That one is Family Tree DNA. Unlike the Genographic Project, Family Tree DNA doesn’t have a large nonprofit behind them. Unlike 23andMe, they are not subsidized by the medical community and venture capital. And unlike Ancestry.com, Family Tree DNA is not interested in selling you a subscription. In fact, the DNA market could dry up and go away for any of those three, meaning 23andMe, National Geographic and Ancestry, and their business would simply continue with their other products. To them, DNA testing is only a blip on a spreadsheet. Not true for Family Tree DNA. Their business IS genetic genealogy and DNA testing. So of all these vendors, they can least afford to have upset clients and are therefore the most likely to be the most vigilant about the accuracy of their testing, the quality of the tools and results provided to customers.

My Opinion

So what is my personal opinion on all of this?

I think these ethnicity results are very interesting. I think in some way all of them are probably correct, excluding Ancestry. I have absolutely no confidence in Ancestry’s results based on their track record and history, lack of tools, lack of transparency and frustratingly poor quality.

I think that as more academic papers are published and we learn more about these reference populations and where their genes are found in various populations, all of these organizations will have an opportunity to “tighten up” their results. If you’ll notice, both Ancestry and Family Tree DNA still include the words “beta.” The vendors know that these results are not the end all and be all in the ethnicity world.

Am I upset with these vendors? Aside from Ancestry who has to know they have a significant problem and has yet to admit to or fix it, no, I’m not. Frustrated, as a consumer, yes, because like all genealogists, I want it NOW please and thank you!!!

Without these kinds of baby steps, we will never as a community crawl, walk, or run. I dream of the day when we will be able to be tested, obtain our results, and along with that, maybe a list of ancestors we descend from and where their ancestors originated as well. So, in essence, current genealogy (today Y-line and mtdna), older genealogy (autosomal lines) and population genetics (ethnicity of each line).

So what should we as consumers do today? Personally, I think we should file this information away in the “that’s interesting” folder and use it when and where it benefits us. I think we should look at it as a display of possibilities. We should not over-interpret these results.

There is perhaps one area of exception, and that is when dealing with majority ethnic groups. By this, I mean African, Asian, Native American and European. For those groups, this type of ethnicity breakdown, the presence or absence of a particular group is more correct than incorrect, generally. Very small amounts of any admixture are difficult to discern for any vendor. For an example of that, look at my Native percentages and some of those are proven lines. For the individual who wants more information, and more detail into the possibilities, I wrote about how to use the raw autosomal data outside of the vendors tools, at GedMatch, to sort out minority admixture in The Autosomal Me series.

Perhaps the Genographic Project page sums it up best with their statement that, “If you have a very mixed background, the pattern can get complicated quickly!” Not only is that true, it can be complicated by any and probably all of the factors above. When you think about it, it’s rather amazing that we can tell as much as we can.

______________________________________________________________

Disclosure

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Why Don’t I Match My Cousin?

Posted on September 29, 2013 by Roberta Estes

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I receive this question regularly from people who have taken one of the autosomal DNA tests and who expected to match a cousin, but don’t.

Of course, the Jeff Foxworthy in me wants to say, “Because he’s not your cousin,” but fortunately, I never let my inner Jeff Foxworthy out in public.

Actually, that’s often their biggest fear – that they are uncovering a very unpleasant family secret – but Jeff Foxworthy aside – that’s generally not the case.

Let’s take a look at why.

According to Family Tree DNA’s FAQ on the subject, combined with the percentage of DNA shared with each type of cousin, we find the following.

Relationship to You	Likelihood of a Match	% of DNA Shared
1^st Cousin (common grandparents)	100%	7-13
2^nd Cousin (common great-grandparents)	>99%	3-5
3^rd Cousin (common great-great grandparents	>90%	.3-2
4^th Cousin (common ggg grandparents)	>50%	<1%
5^th Cousin (common gggg grandparents)	>10%	Sometimes none detectable at match threshold
6^th Cousin (common ggggg grandparents)	<2%	Often none detectable at match threshold

If you don’t match your first cousin, then you need to start thinking about Jeff Foxworthy or you’re simply extremely lucky, or unlucky, depending on your perspective. Buy a lottery ticket.

In all seriousness, if you don’t match a first cousin, consider having your sibling (or parent) or your cousin’s sibling or relevant parent test as well. In some cases, two people simply inherit different DNA and even though they don’t match each other, they do match other people in the same family.

However, if you’re going to go down this path, be prepared that the answer may be that you really aren’t genetic cousins. By the time you get to this point, you’ve already peeked into Pandora’s box though, so it’s kind of hard to shut the crack and pretend you never looked.

Another option for determining whether or not you really match that cousin is to download both of your results to GedMatch. The testing companies have pre-set match thresholds that determine what is and is not a match. That’s a good thing, but what if your match is just slightly under that threshold, and there aren’t other relatives to test? GedMatch allows you to match at very small segment levels that would generally be considered population matches and not genealogy matches.

Judy Russell had the perfect example of just this situation in her Widen the Net blog. Her mismatch was with a 3^rd cousin. According to this the chart above, she stood a greater than 90% change of matching, but she didn’t, so she’s in the special 10%. And that 10% gets left wondering. Fortunately, Judy had tested aunts, uncles and another first cousin, and her cousin who did not match her did match them.

The moral of this story is:

Ignore Jeff Foxworthy when he starts to whisper in your ear, at least initially
Test as many family members as you can
Don’t jump to conclusions
Utilize third party tools like GedMatch if necessary
Understand that if you test enough family lines, you will eventually find an undocumented adoption someplace

______________________________________________________________

Disclosure

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Daughtered Out – Holding the Torch

Posted on September 25, 2013 by Roberta Estes

Daughtered out – this is a term used early on in genetic genealogy and I haven’t heard it for some time now.

What it means is when you can’t find a descendant of a female ancestor who carries their mitochondrial DNA because there aren’t any to find. Of course, to carry the mitochondrial DNA of an ancestor, you must have descended from that ancestor through all women between them and you, shown by the red circles below.

You, yourself, can be a male, like the brother above. That part doesn’t matter, because both genders of children inherit the red mitochondrial DNA of the mother, but only females pass it on.

Where there are no daughters, or no daughters have children, and in particular female children, the mitochondrial line dies out – it can no longer be passed on – and in that line of the family it exists no more.

In other words, the line has daughtered out – there are no daughters.

But I never thought about this in a personal way before – until today.

Today, I was pondering making a mitochondrial DNA quilt. Yes, I’m a quiltmaker too – although I don’t have a lot of time to make quilts anymore. And then I got to thinking about what would happen to the quilt after I’m gone. My kids “reserve” quilts I make for ultimate ownership “someday.” I’m glad to know they like them so much. I try not to think of it as morbid.

I thought to myself, it should go to someone who carries that mitochondrial DNA. But all of my children carry it. And then, it struck me, kind of like a ton of bricks, there isn’t anyone in my family line that will carry it into the future.

I realized that I don’t have any grandchildren who carry my mitochondrial DNA. Then I realized that I’m the only possibility for my generation to pass on mitochondrial DNA, because I don’t have any female siblings on my mother’s side.

Now, suddenly obsessed with knowing who carries my mitochondrial DNA, I began climbing back up my tree on the maternal line, and I discovered that between Elisabetha Mehlheimer, my oldest known ancestor, born about 1800 probably in Goppsmannbuhl (based on her daughter’s birth), Germany and me, that not one person has passed on their mitochondrial DNA to an offspring who has passed it to someone living today.

There are two possible exceptions in the lineage.

Elisabetha Mehlheimer – this is her maiden name – born about 1800, she was an unmarried servant when she gave birth to daughter Barbara in 1823 – almost nothing is known about Elisabetha except that she was dead before 1851.

Barbara Mehlheimer was born in 1823 in Goppsmannbuhl, Germany, the only known child of Elisabetha Mehlheimer and married George Drechsel (Drexler), immigrating to Aurora, Dearborn Co., Indiana.

Barbara had 5 daughters. One was my ancestor, Barbara, born in 1848 who married Jacob Kirsch, both shown below. Two other daughters either never married or had males or female children who didn’t marry. Two daughters are “lost” after moving to Cincinnati, Ohio, living with their married sister after 1881. Those two daughters are Teresa Maria “Mary” Drechsel (Drexler) and Caroline “Lina” Drechsel (Drexler). If these two women married and had children, it’s possible that this mitochondrial line is not dead, but if they did not, then the line becomes extinct with me and my children.

Barbara Drechsel Kirsch (above, seated at right with black skirt, Jacob behind her) had 4 daughters and only one, Ellenore “Nora” Kirsch born in 1866 who married Curtis Benjamin Lore (couple at left, above), the oil-field playboy, had any children.

Nora (above, with white hair) had 4 daughters, one of which died as a teenager after contracting tuberculosis from her father while caring for him. Of the other three (above), aside from my grandmother, Edith (second from left), only one had children and she had all boys.

My grandmother Edith was born in 1888 Indianapolis, Indiana, married John Ferverda and moved to Silver Lake, Indiana. She had two children, one boy and one girl, my mother, shown above. My mother had only one daughter, me, below.

So this is where it ends – with me. The end of a very long line of J1c2f women. I am the end of the road. I can’t help but feel sad. I hope that someplace, maybe in or near Goppmannsbuhl, Germany, there is another woman someplace, my distant cousin, who is passing on our particular version of J1c2f – that maybe our line is not truly dead. The fact that I actually do have full sequence near-matches suggests that it has survived someplace. Suddenly those matches, even though I can’t genealogically connect to them, are much more important to me. They represent hope.

Or maybe one of those 2 lost Drechsel (Drexler) sisters actually married and that line hasn’t daughtered out – but that’s doubtful because this family was close and I think documentation would have existed had they married. My grandmother, Edith, attended “business college” in Cincinnati in the first decade of the 1900s, so she would have known any “great-aunts” living there, and indeed she did know the ones who are documented as having married and having children.

And while I find this turn of events disheartening, I also realize how important it is to document the information about my mitochondrial DNA in some public place or way where future descendants of these people can find the information if they so wish. Even though they don’t carry her mitochondria, Elizabetha Mehlheimer is still the founding mother of that branch of our family and her mitochondria carries the story of her deep ancestry. Since her mitochondrial DNA will no longer exist to be tested, documenting the test results and making them available for others is critically important. In fact, it’s the last chance for this information not to be lost forever. That would be a second death for Elizabetha.

At that point, for everyone’s line besides mine, Elizabetha Mehlheimer becomes one of those terribly frustrating lines on the pedigree chart where there is no prayer of finding someone to test – so the line sits there, blank, with no clan name, no haplogroup, no information about how that maternal line got to Europe, or America, from Africa and Asia. Those secrets are held in the mitochondrial DNA that will no longer be available.

I have a couple of those frustratingly blank spots on my tree, below. The grey Dodson, the green Herrell, the bright green DeJong, the yellow Lentz, the bright pink Hill, and the blue Kirsch, although that one is Yline.

So what I’ll leave her future descendants, since there are no direct mitochondrial descendants, rather than a quilt, and much more important, the ultimate heirloom, will be her genetic code, etched someplace for posterity. I don’t want her to be someone’s blank spot.

Being the last of the line, a line that has daughtered out, carries a level of responsibility, of obligation, I never thought about before. Maybe I need to look at some of my other lines with an eye out to see if the line is in the process of daughtering out as well. If so, then it’s imperative to have the last of the line people tested, although how to make the results available at the right time to the right people in the future is another matter entirely. Instead of passing the torch, as there is no one to pass it to, we need to find a way to hold it eternally.

By all means, test now.

Maybe we need a service called DNA-Vault. It holds our DNA results until we die, and then they are made permanently, publicly available.

But back where I started, I still haven’t figured out who to leave the quilt to.

______________________________________________________________

Disclosure

Thank you so much.

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Native American Mitochondrial Haplogroups

Posted on September 18, 2013 by Roberta Estes

188

Today, what I’m sharing with you are my research notes. If you follow my blogs, you’ll know that I have a fundamental, lifelong interest in Native American people and am mixed blood myself. I feel that DNA is just one of the pieces of history that can be recovered and has a story to tell, along with early records, cultural artifacts and oral history.

In order to work with Native American DNA, and the various DNA projects that I co-administer, it’s necessary to keep a number of lists and spreadsheets. This particular list was originally the first or earliest reference or references to a Native American mitochondrial (maternal line) haplogroup where it is identified as Native in academic papers. I have since added other resources as I’ve come across them.

For those wondering why I’ve listed Mexican, this article speaks to the very high percentage of Native American mitochondrial DNA in the Mexican population.

Please note that while some of these haplogroups are found exclusively among Native American people, others are not and are also found in Europe and/or Asia. In some cases, branches are exclusively Native. In other cases, we are still sorting through the differences. For haplogroups though to be only Native, I have put any other submission information, which is often from Siberia.

I have labeled the major founding haplogroups, as such. This graphic from the paper, “Beringian Standstill and the Spread of Native American Founders” by Tamm et al, provided the first cumulative view of the mitochondrial Native founder population.

Haplogroups A, B, C, D and X are known as Native American haplogroups, although not all subgroups in each main haplogroup are Native, so one has to be more specific.

Please note that I am adding information from haplogroup projects at Family Tree DNA. This information is self-reported and should only be utilized with confidence after confirming the accuracy of the information.

Please note that in earlier papers and projects, not all results may have been tested to the full sequence level, so results in base haplogroups, like A and B, for example, may well fall into subclades with additional testing.

The protocol and logic for adding the Anzick results for consideration, along with other evidence is discussed in this article. In short, for the 12,500 year old Anzick specimen to match any currently living people at relatively high thresholds, meaning 5cM or over, the living individual would likely have to be heavily Native. Most matches are from Mexico, Central America and South America. Many mitochondrial DNA haplogroups are subgroups of known Native groups, but never before documented as Native. Therefore, the protocol I followed for inclusion was any subgroup of haplogroups A, B, C, D, M or X. Some individuals are unhappy that some haplogroups were among the Anzick results and that I have not removed them at their request, in particular, M23. To arbitrarily remove a haplogroup listing would be a breach of the protocol I followed. Research does not always provide what is expected. I have includes links to notes where appropriate.

Phylotree Versions

The Phylotree is the document that defines the mutations that equate to haplogroup names.

Please note that most papers don’t indicate which version of the Phylotree they used when sequencing the DNA. Haplogroup names sometimes change with new versions of the Phylotree. Phylotree builds occurred as follows:

Family Tree DNA updated from build 14 to 17 in March 2017.

As of April 2017, 23andMe is still utilizing Build 12 from 2011.

Roberta’s Native Mitochondrial DNA Notes

Haplogroup A

Many samples classified as haplogroup A, with no subgroup, were not tested beyond the HVR1 or HVR1+HVR2 regions. Most, but not all, people will receive more granular haplogroups if the full mitochondrial sequence test is taken.

Tribes or peoples include Cherokee, Choctaw, Chippewa, Cree, Huron, Mi’kmaq, and PeeDee found in 2021 in the Haplogroup A project , Acadian AmerIndian Ancestry project and American Indian projects at Family Tree DNA.
Ancestral locations in 2021 include Alaska, Alberta, Argentina, Arizona, Bahamas, Belize, Brazil, British Colombia, California, Canada, Chile, Colombia, Costa Rica, Cuba, Dominican Republic, El Salvador, Guatemala, Honduras, Indiana, Kuna-Panama, Louisiana, Manitoba, Mexico, New Mexico, Nicaragua, North Carolina, Nova Scotia, Ohio, Panama, Puerto Rico, Saskatchewan, South Carolina, Texas, Wisconsin, Venezuela.
Anzick Provisional Extract, Estes 2014
Anzick Provisional Extract, Estes January 2015 – (32 As with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A

Ancient samples from Antaura (1) and Puca (5) 1100-1500 BC. Baca, 2014
Ancient sample named Kwäday Dän Ts’ìchi, Long-Ago Person Found from the glacier at Tatshenshini-Alsek Park, Canada, dates from about 1420 CE, Monsalve 2002
Ancient samples (2) from Tompullo and Andaray, Peru dating from about 1450 CE, Baca, 2012

A-T152C!

Cuba, Guatemala, Honduras, Puerto Rico – the Haplogroup A project and American Indian projects 2021

Mexican – 2007 Peñaloza-Espinosa
Rumsen, Esselen, Salinan from Monterey, California – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
In Build 17, previous haplogroup A4a became A1
Please note that in 2021, haplogroups A1 and A1a appear not to be Native, but there remains some question. In the next version of the haplotree as a result of the Million Mito Project, we can hopefully resolve this question.

A1a

In Build 17, previous haplogroup A4a1 became A1a
Please note that in 2021, haplogroups A1 and A1a appear not to be Native, but there remains some question. In the next version of the haplotree as a result of the Million Mito Project, we can hopefully resolve this question.

Native, Beringian Founder Haplogroup – 2008 Achilli
Hispanic American – 2008 Just
Mexican – 2007 Peñaloza-Espinosa
Mexican, Achilli, 2008
Eskimo – Volodko, 2008
Dogrib – Eskimo – Volodko, 2008
Apache – Volodko, 2008
Mexico and Central America – Eskimo – Volodko, 2008
Apache – Volodko, 2008
Ache and Guarani/Rio-das-Cobras and Katuana and Poturujara and Surui and Waiwai and Yanomama and Zoro – Fagundes 2008
Waiwai, Brazil, Zoro, Brazil, Surui, Brazil, Yanomama, Brazil, Kayapo, Brazil, Arsario, Colombia, Cayapa, Ecuador, Kogui, Colombia – Fagundes 2008
Arsario and Cayapa – Tamm 2007
Kogui – Tamm 2007
Colombia – Hartmann 2009
Waorani tribe, Ecuador – Cardoso 2012
Anzick Provisional Extract, Estes January 2015 – (192 A2s with no subgroup),
Inupiat people from Alaska North Slope – Raff 2015
Ancestral locations found in March 2021 in the Haplogroup A project, Acadian AmerIndian Ancestry project and American Indian projects at Family Tree DNA include: Argentina, Brazil, California, Canada, Cuba, Ecuador, Guatemala, Mexico, New Brunswick, Nicaragua, Ontario, Puerto Rico, Quebec, Washington State, Mississippi
Tribes in 2021 include Algonquin and Choctaw.

Ancient A2

Ancient remains from Lauricocha cave central Andean highlands – Fehren-Schmitz 2015
Gran Chaco, Argentina – Sevini 2014
Chumash – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Wari Culture, Huaca Pucllana, Peru – Llamas, 2016
Lima Culture, Huaca Pucllana, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Lauricocha culture, Lauricocha, Peru – Llamas, 2016
Tiwanaku culture, Lauricocha, Peru – Llamas, 2016
Paisley 5 Mile Point Caves, 11,000-10,800 YBP – Gilbert et al, 2008
Manabi, San Ramon, Pichincha, Quito, Imbabura, Chimborazo, Riobamba, Tungurahua, Pillaro, Cotopaxi, Salcedo, Azuay and Cuenca in Ecuador, Native and Cayapa, also Peru, 6 ancient and several contemporary – Brandini, 2017
Argentina, Brazil, Canada, Chile, Cuba, Ecuador, El Salvadore, Guatemala, Mexico, Nicaragua, Puerto Rico, Peru, Venezuela, in Canada – British Columbia, New Brunswick, Northwest Territory, Nova Scotia, Ontario, Quebec, Vancouver Island, in the US – Alabama, Alaska, Caswell County, NC, Crawford County, PA, Michigan, Mississippi, tribes – Choctaw, Mi’kmaq – Haplogroup A2 Mitochondrial Project at Family Tree DNA, August 7, 2019
Ancient samples (3) from San Nicolas Island, CA dating from approximately 2100-2400 BCE, Scheib et al, 2018
Ancient samples (2) from Pampa Grande, Argentina, Candelaria culture dating from about 400 CE, Carnese et al 2010
Ancient samples (2) from the Lauricocha, Highlands of Peru with 2 dating from about 6500-6700 BCE and one from 1600 BCE, Fehren-Schmitz 2015
Ancient samples (5) from Lapa do Santo, Brazil dating from about 7500-7900 BCE, Posth 2018
Ancient samples (2) from Arroyo Seco II, Argentina dating from about 5620 BCE, Llamas 2016
Ancient sample from Pampas, Laguna Chica, Argentina dating from about 5000 BCE, Posth 2018
Ancient samples (2) from Laranjal, Brazil dating from about 4600-5000 BCE, Posth 2018
Ancient sample from Caleta Huelen, Chile daring from about 600-800 CD, Nakatsuka 2020
Ancient samples (9) from Atajadizo, Dominican Republic dating from about 700 BCE (8 samples) and 1300 BCE (1), Fernandes 2020
Ancient sample from Monserrate, Puerto Rico dating from about 800 CE, Fernandes 2020
Ancient sample (3) from South Andros Island (Sanctuary Blue Hole,), Bahamas dating from about 1245 CE and 900 CE, Fernandes 2020
Ancient samples (6) from Juan Dolio, Dominican Republic dating from about 1200-1250 CE, Fernandes 2020
Ancient samples (3) from Andres, Dominican Republic dating from about 995 CE and 650 CE, Fernandes 2020
Ancient sample from La Union, Dominican Republic dating from about 700 CE, Fernandes 2020
Ancient sample from de Savaan, Curaco dating from about 1160 CE, Fernandes 2020
Ancient sample from Canimar Abajo, Cuba dating from about 950 BCE, Fernandes 2020
Ancient sample from Los Corniel (Rancho Manuel), Dominican Republic, dating from about 1150 CE. Fernandes 2020
Ancient sample from Caba Rojo, Puerto Rico dating from about 1000 CE. Fernandes 2020
Ancient samples (3) from La Caleta, Dominican Republic dating from about 1100 CE, Fernandes 2020
Ancient sample from Cueva Juana near Cape of Samana, Dominican Republic dating from about 825 CE. Fernandes 2020
Ancient sample from Paso del Indio, Puerto Rico dating from about 1100 CE. Nägele 2020
Ancient samples (3) from Lavoutte (Cas-en-Bas), St. Lucia dating from about 1200-1300 CE. Nägele 2020
Ancient sample from Los Indios, Puerto Rico dating from about 1350 CE.Nägele 2020
Ancient sample from Guayabo Blanco (near Punto Brava), Cuba dating from about 600 BCE. Nägele 2020
Ancient sample from Playa del Mango, Rio Cauto, Granma, Cuba dating from about 20 CE. Nägele 2020
Ancient samples (2) from Cueva Calero (Matanzas), Cuba dating from about 400-500 CE. Nägele 2020
Ancient samples (2) from Canimar Abajo, Cuba dating from about 500-600 CE. Nägele 2020
Ancient sample from Cueva del Perico, Cuba dating from about 700 CE. Nägele 2020
Ancient samples (2) from Paso del Indio, Puerto Rico dating from about 1000-1250 CE.Nägele 2020
Ancient sample from Pica Ocho, Coast of Chile dating from about 1300 CE. Posth 2018
Ancient sample from Arroyo Seco, Argentina dating from about 5800 BCE. Posth 2018
Ancient sample (2) from the island Chumash, San Miguel Island, Canada dating from about 1830 CE and 1600-1800 CE. Scheib et al, 2018
Ancient sample from mainland Chumash, Carpenteria, CA dating from about 400-550 CE. Scheib et al, 2018
Ancient sample from island Chumash, Santa Cruz Island, CA dating from about 1500-1800 CE. Scheib et al, 2018
Ancient sample from San Sebastian, Cusco, Highlands of Peru dating from about 1450 CE. Nakatsuka 2020
Ancient sample from Huaca Pucllana, Lima Peru dating from about 700 CE. Nakatsuka 2020
Ancient sample from El Brujo, Peru dating from about 1000 CE. Nakatsuka 2020
Ancient sample from southwest of Buenos Aires, Argentina dating from about 400 BCE. Nakatsuka 2020
Ancient samples (6) from the central Andes of southern Peru dating from about 300-1450 BCE. Fehren-Schmitz 2015
Ancient sample from the middle Andes of southern Peru dating from about 1000 BCE. Fehren-Schmitz 2015
Ancient samples from the Kotosh culture in La Galgada, Peru dating from about 2050 BCE, Llamas 2016
Ancient sample from the Chinchorro culture in Camarones, Chile dating from about 1800 BCE, Llamas 2016
Ancient sample from the Tiwanaku culture in Tiwanaku, Bolivia dating from between 500 and 1000 CE, Llamas 2016
Ancient samples (4) from the Wari and Lima Cultures in Huaca Pucllana, Lima, Peru dating from between 500 and 1000 CE, Llamas 2016
Ancient sample from the Chancay culture in Pasamayo, Peru dating from between 1000 and 1470 CE, Llamas 2016
Ancient sample from the Inca culture in San Sebastian, Peru dating from about 1400 CE, Llamas 2016
Ancient sample from the Late Central Andes culture from Cuncaicha, Highlands of Peru dating from 2250 BCE, Llamas 2016
Ancient samples (2) from Pica, Chile dating to between 500 and 1000 BCE, Llamas 2016
Ancient samples (5) from Checua, Colombia dating from 6000-7800 BCE and 2 samples dating from about 3000 BCE, Diaz-Matallana 2016
Ancient sample from the Chinchorro culture in Arica, Chile dating from about 3800 BCE, Raghavan 2015
Ancient sample from the Enoque culture from Toca do Enoque in Serra da Capivara, Piaui, Brazil, dating from about 3500 BCE, Raghavan 2015
Ancient sample from Big Bar Lake, British Columbia, Canada dating from about 3600 BCE, Moreno-Mayar 2018
Ancient samples (4) from the Wari era from Cochapata, Peru dating from about 600-1000 CE, Kemp 2009
Ancient samples (3) from the Wari Era from Huari-MQ, Peru dating from about 1000-1450 BCE, Kemp 2009
Ancient sample from the Caribbean culture from Santa Elena, Puerto Rico dating from between 900-1300 BCE, Fernandes 2020
Ancient samples (4) found in Tibanica, Colombia from about 1000 BCE, Perez 2015
Ancient sample from Tilcara, Quebrada de Humahuaca, Jujuy, Argentina dating from about 1100 BCE, Mendisco 2014
Ancient sample from Banda de Perchel, Quebrada de Humahuaca, Jujuy, Argentina dating from about 1150 CE, Mendisco 2014
Ancient samples (13) from Los Amarilloes, Quebrada de Humahuaca, Jujuy, Argentina dating from about 980-1467 CE, Mendisco 2014
Ancient samples (2) from Fuerte Alto, Calchaqui Valley, Salta, Argentina dating from about 1000-1500 CE, Mendisco 2014
Ancient sample from Tero, Calchaqui Valley, Salta, Argentina dating from about 1000-1500 CE, Mendisco 2014
Ancient samples (2) from the Inca period from Esquina de Huajra (Quebrada de Humahuaca), Argentina dating from about 1500 CE. Russo 2017
Ancient samples (4) from Doncellas, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient sample from Casabindo, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient sample from Agua Caliente, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient sample from Doncellas, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient samples (2) from the Athabaskan culture from Tochak McGrath, Upper Kuskokwim River, Alaska, one dating from about 1050-1400 CE, and one from about 550-900 CE, Flegontov 2019. This paper is fascinating – take a look.
Ancient sample from Tequendama, Colombia dating from between 4000-5000 BCE, Delgado 2020
Ancient sample from Ubate, Colombia dating from about 3600 BCE. Delgado 2020
Ancient samples (4) from Aguazuque (Soacha), Colombia, two dating from about 1900 BCE, one from about 2600 BCE, and one from about 775 BCE. Delgado 2020
Ancient sample from Canimar Abajo, Cuba dating from about 1100 BCE, Nägele 2020
Ancient sample from Restigouche River, near the town of Atholville in northern New Brunswick, Canada dating from about 1500 CE. Raghavan 2015
Ancient sample from the lnca Late Horizon from Chincha, Peru dating from about 1500 CE. Bongers 2020

A2a and A2b

Paleo Eskimo, identified in only Siberia, Alaska and Natives from the American SW (Achilli 2013)
Raff 2015 – Inupiat people from Alaska North Slope
Ancient sample, Holas Island, Canada, about 2400 BCE,

A2a

Aleut – 2008 Volodko
Eskimo – Volodko, 2008
Apache – Volodko – 2008
Siberian Eskimo, Chukchi, Dogrib, Innuit and Naukan – Dryomov, 2015
Anzick Provisional Extract, Estes January 2015 – (2 A2a)
Common among Eskimo, Na-Dene and the Chukchis in northeasternmost Siberia, Athabaskan in SW (Achilli 2013), circumpolar Siberia to Greenland, Apache 48%, Navajo 13%
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A2a

Ancient samples (3) from Ekven, Russia, from a 2000 year old Eskimo cemetery near Uelen on the easternmost spit of land in the Bering Strait, one sample dating from about 100 BCE, one from about 900 BCE and one from about 30 BCE, Sikora 2019
Ancient samples (5) from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 700-1000 CE, Flegontov 2019
Ancient sample from Kagamil Island Warm Cave, Aleutian Islands, Alaska dating from about 1600 CE, Flegontov 2019
Ancient samples (2) from Uelen, Chukotka, Russia on the easternmost spit of land in the Bering Strait dating from about 1000 CE and about 250 CE, Flegontov 2019
Ancient sample from the Palm Site (Cook Inlet) from the Alaskan Athabaskan culture dating from about 1850 CE, Scheib et al, 2018
Ancient sample from Punta Candelero, Puerto Rico dating from about 158 CE, Nägele 2020
Ancient samples (2) from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 800-1000 CE, Harney 2020

A2aa

Waiwai and Poturujara tribes in Brazil Fagundes, 2008
Peru – Brandini, 2017

A2ab

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

A2ac

Chimborazo, Pallatanga, Riobana, Pichincha, Cayambe, Quito, Mejia in Ecuador, Mestizo and Cayapa – Brandini, 2017
Hispanic – Just, 2015
Colombia – Rieux, 2014
Venezuela – Brandini, 2017

A2ac1

Colombia, Cuba – Behar, 2012
Colombia – HGDP

A2ac2

Chimboro, Penipe, Santo Domingo, El Poste, Pichincha, Quito, Bolivar, Chimbo in Ecuador, Native Tsachila and Mestizo – Brandini, 2017

A2ad

Chitimacha in Louisiana found in the Haplogroup A project at Family Tree DNA

A2ac

Colombia found in the Haplogroup A project at Family Tree DNA

A2am

Peru – Brandini, 2017

A2ar

Guatemaula – Sochtig, 2015

A2a1

Selkup and Innuit – Dryomov, 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ancient samples (2) from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 850 CE, Flegontov 2019
Ancient sample from Tochak McGrath, Upper Kuskokwin River, Alaska from the Athabaskan culture dating from about 1225 CE, Flegontov 2019
Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 3 CE, Sikora 2019
Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 800 CE, Harney 2020

A2a2

Achilli 2013
Chukchu, Inuit, Eskimos, Naukan – Dryomov, 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A2a2

Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 250 BCE, Sikora 2019
Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 1150 CE, Flegontov 2019
Ancient sample from Uelen, Chukota, Russia on the easternmost spit of land in the Bering Strait, dating from about 1150 CE, Flegontov 2019

A2a3

Northern North America -Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A2a3

Birnirk (ancient sample,) Chukchi, Naukan, Innuit in Canada and Greenland – Dryomov 2015
Ancient sample from Ulaanzuukh, Sukhbaatar, Mongolia dating from about 1200 CE, Jeong 2020
Ancient sample from the Pucuncho Basin, Cuncaicha, Peru dating from about 2250 BCE, Nakatsuka 2020
Ancient sample from the Cuncaicha Highlands, Peru dating from about 2230 BCE, Llamas, 2016

A2a4

Chihuahua, Mexico – Achilli 2013
Navajo – Dryomov 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2a5

Achilli 2013
Navajo, Apache, Cree, Secwepemc – Dryomov 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Canada First Nations and US – 2021 Haplogroup A Project

A2ab

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Brazil – American Indian project 2021

A2ac

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Colombia – American Indian project 2021

A2ac1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Colombia – American Indian project 2021

A2ad

Second most common A2 subgroup in Panama, found in same countries as A2af – Perego 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cuba, Honduras – Haplogroup A Project 2021

A2ae

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2af

Perego 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1a1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1a2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1b1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2ag

British Columbia, Tsimshian, ancient burial 152 Dodge Island, Canada – Cui 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ancient sample from Biggest of Lucy Islands, Alaska dating from about 3700 BCE, Cui 2013
Ancient sample from Dodge Island, British Columbia, Canada shell midden site dating from about 900 BCE, Cui 2013

A2ah

British Columbia, Dodge Island ancient burial 160a, Nisga’a, Kaigiani Haida, Tsimshian, Bella Coola – Ciu 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017
Ancient sample from Quebrada de Humahuaca valley, Argentina dating from about 1450 CE, Russo 2018
Puerto Rico, USA – Haplogroup A Project 2021

A2ai

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2ak

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
USA, Mexico, Venezuela, Wayuu (Colombia/Venezuela), Ecuador, Peru – Brandini 2017

A2al

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Panama – Haplogroup A Project 2021

A2am

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017
Ancient sample from de Savaan, Curacao dating from about 1350 CE, Fernandes 2020
Puerto Rico – Haplogroup A Project 2021

A2ao

Ancient sample from Cuncaicha, Highlands of Peru dating from about 1420 CE, Posth 2018

A2ao1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2ap

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2aq

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ancient sample from Dodge Island shell midden site, British Columbia, Canada dating from about 2900 BCE, Cui 2013

A2ar

Loja in Ecuador, Native and Mestizo, also Peru – Brandini, 2017

A2as

Peru, 2 ancient and 1 contemporary – Brandini, 2017

A2as1

Peru – Brandini, 2017

A2at

Peru – Brandini, 2017

A2at1

Peru, 2 ancient and several contemporary – Brandini, 2017

A2au

Peru – Brandini, 2017

A2av

Hispanic – Just, 2008

A2av1

Pichincha, Quito, El Oro, Zaruma in Ecuador, Mestizo and Native Panzaleo, also Peru – Brandini, 2017

A2av1a

Tungurahua, Pillaro, Ambato, Chimborazo, Riobamba in Ecuador, Mestizo and Native Panazaleo, also Peru – Brandini, 2017

A2aw

Carchi, Tulcan, Carchi, Montufar San Gabriel in Eduador, Mestizo and Native Cayambe – Brandini, 2017

A2b

Raff 2015 – Inupiat people from Alaska North Slope
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2b1

Achilli 2013
Anzick Provisional Extract, Estes January 2015 – (1 A2b1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Greenland – Haplogroup A Project 2021

A2c

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (5 A2c)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2c-C64T

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

A2d

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Anzick Provisional Extract, Estes January 2015 – (7 A2d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2d1

Achilli, 2008
El Salvadore found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 A2d1)
A2d1a – Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (5 A2d1a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cuba, El Salvadore – Haplogroup A Project 2021

A2d1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Zacatecas, Mexico – Haplogroup A Project 2021

A2d2

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2e

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 A2e)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico and Apache – Haplogroup A Project 2021

A2f

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 A2f)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2f1

Newfoundland, Pope
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2f1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Brunswick and Chippewa and Nova Scotia and Ojibwa and Mi’kmaq found in the Haplogroup A project at Family Tree DNA
Mi’kmaq found in the Haplogroup A2 project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cree, Ojibwa on the White Earth Reservation in Minnesota, Nova Scotia, Thunder Bay, Canada, Chippewa from Pembina Red Lake, MN,

A2f2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2f3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2g

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons, Mexico – Kumar and Behar, Iberia – Hartman, Guatemala found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (5 A2g)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2g1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons, Mexico – Kumar, Asia – Hernstadt
Anzick Provisional Extract, Estes January 2015 – (3 A2g1)
New Mexico, Athabascan heritage, private test at 23andMe
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2-G153A!

Menominee, Wisconsin – Haplogroup A Project 2021

A2 – G16129A!

Metlakatla, British Columbia, Canada, Trinidad and Tobago, Tolland, CT and the Tlinget people found in the Haplogroup A project, Acadian AmerIndian Ancestry project and American Indian projects at Family Tree DNA

A2h

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Yanomama – Fagundez, Kogui – Tamm
Colombia – Rieux
Anzick Provisional Extract, Estes January 2015 – (10 A2h)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cuba – Haplogroup A project 2021

A2h1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar and Behar
Michoacan, Mexico found in the Haplogroup A project at Family Tree DNA 2021
Anzick Provisional Extract, Estes January 2015 – (2 A2h1)

A2i

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (4 A2i)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2j

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Anzick Provisional Extract, Estes January 2015 – (4 A2j)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project 2021

A2j1

Achilli, 2008
Hispanic – Parsons
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2k

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons, Anzick Provisional Extract, Estes January 2015 – (4 A2k)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Pichincha, Manabi, Guayllabamba, Los Rios, quevedo, in Ecuador, Mestizo and Native Salasaca – Brandini, 2017
Mexico – Kumar, 2011
Mexico – Greenspan (FTDNA), 2011 direct submission
Puerto Rico – Haplogroup A project 2021

A2k1

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Wayuu – Tamm, 2007
Mexico – FTDNA
Puerto Rico found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (5 A2k1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017
Hispanic – Just, 2008

A2k1a

Peru, Venezuela – Brandini, 2017
Hispanic – Just, 2008
Ciales, Puerto Rico and Lajas, Puerto Rico – Haplogroup A project 2021

A2l

Mexico found in the Haplogroup A2 project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2m

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project 2021

A2n

Canada – Achilli and Behar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Slave Lake, Canada and Algonquian ancestor is US – Haplogroup A project 2021

A2p

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Cayapa – Tamm
Mexico found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 A2p)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2p1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project 2021

A2q

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (3 A2q)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2q1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Baja California and San Luis Potosi, Mexico – Haplogroup A project 2021

A2r

Mixteca-B – Mishmar
Guatemala – FTDNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, Louisiana – Haplogroup A project and American Indian project

A2r1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2t

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2-T16111C!

Brazil, Mexico, Costa Rica and Louisiana – Haplogroup A project and American Indian projects 2021

A2u

Guatemala found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 A2u)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project and American Indian projects 2021

A2u1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2u2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Guatemala found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 A2v)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v1b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Guatemala & New Mexico – Haplogroup A project and American Indian projects 2021

A2v1-T152C!!!

New Mexico – Haplogroup A project and American Indian projects 2021

A2w

Hispanic – Parsons
Bahamas, Cayman Islands – Family Tree DNA project member
Arsario – Tamm
Mexico – Kumar
Colombia – Rieux
Caymens found in the Haplogroup A2 project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Bahamas, Costa Rica, Mexico, Panama – Haplogroup A project and American Indian projects 2021

A2w1

Colombia – FTDNA
Cayman Islands – FTDNA
Mexico – Zheng
Panama – Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2x

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project and American Indian projects 2021

A2y

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017

A2y1

Chimborazo, La Moya, Imbabura, San Rafael, in Ecuador, Native Otavalo, Mestizo and Waorani, also Peru – Brandini, 2017

A2z

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 A2z)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Puerto Rico – Haplogroup A project and American Indian projects 2021

A2z1

Peru – Brandini, 2017
Puerto Rico – Behar, 2012
Puerto Rico – HGDP
Hispanic – Just, 2008
Hispanic – Just, 2014

A2z2

Peru – Brandini, 2017

A2-C64T

Cuba and Guatemaula and Choctaw found in the Haplogroup A project at Family Tree DNA
New Brunswick found in the Haplogroup A2 project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (7 A2-C64T)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2-C64T-A189G (please note that under Build 17, most of haplogroup A2 has been reassigned)

Menominee in Wisconsin found in the Haplogroup A project at Family Tree DNA

A2-C64T-T16111C! (please note that in Build 17, this haplogroup is now A2-T16111C!)

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Chumash – Breschini and Haversat 2008

A4 (Please note that in Build 17, people previously assigned A4 were reassigned to other haplogroups based on their mutations, including haplogroups A, A18, A2-T16111C!, A2-G153A!, A-T152C!, A-T152C!-A200G, A A2ao, A2q1, A12a and possibly others. Haplogroup A4 itself no longer exists.)

Siberian founder of A2, not found in Americas – Kumar 2011
Poland and Romania found in the Haplogroup A4 project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 A4)
A4 is Native, found in Mexico, Colombia, Cuba, Puerto Rico, Honduras, Costa Rica and elsewhere – Estes 2015 – Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
Chumash – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A4a (please note that in Build 17, A4a became A1)

Kumar 2011 – Siberian founder of A2, not found in Americas

A4a1 (please note that in Build 17, A4a1 became A1a)

Found in Europe. One subgroup may be Native, found in Mexico – – Estes 2015 – Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American

A4b (please note that in Build 17, A4b became A12a)

Siberian founder of A2, not found in Americas – Kumar 2011
UK found in the Haplogroup A4 project at Family Tree DNA

A4c (Please note that in Build 17, A4c became A13)

Siberian founder of A2, not found in Americas – Kumar 2011

Chumash – Breschini and Haversat 2008

A5a

Anzick Provisional Extract, Estes January 2015 – (1 A5a)

Chumash – Breschini and Haversat 2008

Chumash – Breschini and Haversat 2008

Yokuts – Breschini and Haversat 2008

Chumash – Breschini and Haversat 2008

A10

Undetermined at this time, could be either European or Native – Estes 2015 – Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
A10 found in ancient remains in West Siberian population, Pilipenko, PlosOne, 2015
Chumash – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Please note that haplogroup A10 is most likely not Native, as least not in every instance.

A11

Luiseno – Breschini and Haversat 2008

A12

Chumash – Breschini and Haversat 2008

A12a

In Build 17, previous haplogroup A4b became A12a

A13

Salinan/Yokuts – Breschini and Haversat 2008
In Build 17, previous A4c became A13

Haplogroup B

Anzick Provisional Extract, Estes 2014
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (8 B with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hourglass Cave, Colorado, 8000 YBP – Cui et al, 2013

Mexican – 2007 Peñaloza-Espinosa
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 B1*)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Native, Beringian Founder Haplogroup – 2008 Achilli, 2007 Tamm
Mexican – 2007 Peñaloza-Espinosa
Quecha and Ache and Gaviao and Guarani/Rio-das-Cobras and Kayapo-Dubemkokre and Katuena and Pomo and Waiwai and Xavante and Yanomama – Fagundes 2008
Ache, Paraguay, Gaviano, Brazil, Xavante, Brazil, Quechua, Bolivia, Guarani, Brazil, Kayapo, Brazil, Guarani, Brazil, Yanomama, Brazil, Cayapa, Ecuador, Coreguaje, Colombia, Ngoebe, Panama, Waunana, Colombia – Fagundes 2008
Hispanic American – Just 2008
Colombia – Hartmann 2009
Mexican American – Kumar 2011
Cayapa and Coreguaje and Ngoebe and Waunana and Wayuu and Coreguaje – Tamm 2007
Pima – Ingman 2000
Native American – Mishmar 2003
Colombian and Mayan – Kivisild 2006
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Colombia – Hartman
Yaqui – FTDNA
Shown with European and Mexican and South American entry in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 B2)
Ancient remains from Lauricocha Cave central Andean highlands – Fehren-Schmitz 2015
Ancient sample, central Alaska, Upper Sun River site from circa 11,500 before present – 2015, Tackney et al
Gran Chaco, Argentina – Sevini 2014
Aymara, Atacameno, Mapuche, Tehuelche in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Pica-Tarapaca culture, Pica-8, Chile – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Lauricocha culture, Lauricocha, Peru – Llamas, 2016
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016
Aceramic culture, Cueva Cadelaria, Mexico – Llamas, 2016
Upward Sun River, Tackney 2015
Ancient samples, high percent B2 published populations: Yakama, Wishram, N. Paiute/Shoshoni, Washo, Fremont (500-1500 YBP,) Tommy Site (850-1150 YBP,) Anasazi (1010-2010 YBP,) Navajo, Jemez, Hualapai, Pai Yuman, Zuni, River Yuman, Delta Yuman, Tohono O’odham (Papago), Akimal O’odham (Pima,) Quechan/Cocopa, Nahua-Atopan, Embera, Puinave, Curriperco, Ingano, Uungay, San Martin, Peruvian Highlanders (550-450 YBP,), Yacotogia 1187 YBP, Ancash, Arequpa, Chimane, Puno (Quecha,) Quechua 2, Aymara 2, Trinitario, Quebrada de Humahuaca, Atacamenos, Chorote, Gram Chaco – Tackney 2015 supplement 2
Ancient samples, Sinixt, Quecha, Coreguaje, Waunana, Wayuu – Tackney 2015 supplement 1
Paisley 5 Mile Point Caves, 11,000-10,800 YBP – Gilbert et al, 2008
LatacungaCotopaxi, Angamarca, Loja, Ganil, Saquisili, Canar, Azogues, Pichincha, Quito in Ecuador, Mestizo and Native, also Peru, 5 ancient and several Mestizo – Brandini, 2017
Washington State, Oregon, California, Arizona, New Mexico, Texas, Illinois, North Carolina, Ecuador, Peru, Bolivia, Chile, Argentina, Brazil – Haplogroup B project at Family Tree DNA August 2019

B2a

Found just to the south of A2a, widespread in SW and found in one Chippewa clan, one Tsimshian in Canada and tribes indigenous to the SW, Mexico, possibly Bella Coola and Ojibwa, evolved in North America – Achilli 2008 and 2013,
Chihuahua, Mexico – Achilli, 2013
Found with Mexican entry and descended from Dorothee Metchiperouata b.c.1695 (Illinois) in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (14 B2a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2aa

Ecuador, Mestizo – Brandini, 2017

B2aa1

Ecuador, Peru, ancient and contemporary – Brandini, 2017

B2aa1a

Peru, 4 ancient and 2 contemporary – Brandini, 2017

B2aa2

Mexico – Behar, 2012
Mexico – Kumar, 2011

B2ab

Peru, ancient and contemporary – Brandini, 2017
Bolivia, ancient sample – Llamas, 2016

B2ab1

Peru – Brandini, 2017

B2ab1a

Bolivia, ancient sample – Llamas, 2016
Peru – Brandini, 2017

B2ab1a1

Peru – Brandini, 2017

B2ac

Peru – Brandini, 2017

B2ad

Peru – Brandini, 2017

B2ae

Peru – Brandini, 2017

B2ag

Peru – Brandini, 2017

B2ag1

Peru – Brandini, 2017

B2ah

Peru – Brandini, 2017

B2a1

Achilli 2008 and 2013
Hispanic – Parsons
Sshown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (4 B2a1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Asia – Herrnstadt
Chihuahua, Mexico – Achilli 2008
Anzick Provisional Extract, Estes January 2015 – (6 B2a1a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a1a1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (12 B2a1a1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a1b

Chihuahua, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a2

Achilli 2013
Hispanic – Parsons
Asia – Herrnstadt
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (4 B2a2)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a3

Chihuahua, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a4

Achilli 2013, widespread in north central Mexico and US SW
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a4a

Chihuahua, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a4a1

Chihuahua, Mexico, Durango, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a5

Achilli 2013, restricted to the Yuman (5%) and Uto-Aztecan Pima and Papago from Arizona (7%)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2b

Achilli, 2008
Yanomama, Pomo, Xavante, Kayapo – Fagundes, Cayapa – Tamm
Shown in Mexico and South America in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (40 B2b)
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Yschsma culture, Huaca Pucllana, Peru – Llamas, 2016
Wari culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Cayapa – Tackney 2015 supplement 1
Loja, Tungurahua, Pichincha, Pedro vicente Malonado in Ecuador, Native, Mestizo and Native Saraguro, also Peru, ancient and contemporary – Brandini, 2017
Pomo in California – Fagundes, 2008
Xavante in Brazil – Fagundes, 2008
Colombia – HGDP
Hispanic – Just, 2015
Bolivia – Taboada-Echalar, 2013
Hoopa Tribe – private correspondence to Roberta Estes, August 2019

B2b1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Venezuela – Gomez-Carballa, 2011, direct submission

B2b2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hispanic – Just, 2015
Bolivia – Toboada-Echalar, 2013

B2b2a

Bolivia – Toboada-Echalar, 2013

B2b3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Yanomama of Brazil/Venezuela – Fagundes, 2008

B2b3a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Kayapo of Brazil – Faguendes, 2008
Puerto Rico – HGDP
Hispanic – Just, 2015
Venezuela – Brandini, 2017

B2b4

Mexico – Kumar, 2011

B2b5

Pichincha, Juan Montalvo, Cotopaxi, Mulalo, San Miguel de Los Bancos, Imbabura, Ibarra, Loja, Onocapa, Quito in Ecuador, Native Cayambe, Cayapa and Mestizo, also Peru and Venezuela – Brandini, 2017

B2b5a

Loja, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2b5a1

Loja in Ecuador, Native and Mestizo – Brandini, 2017

B2b5b

Pichincha in Ecuador, Mestizo – Brandini, 2017

B2b5b1

Peru – Brandini, 2017

B2b5b1a

Pichicha, Ruminahui, Quito in Ecuador, Mestizo – Brandini, 2017

B2b5b1a1

Pichicha, Ruminaui, Loja, Linderos, Ganil, Onocapa, Bolivar, Pinato in Ecuador, Native, Native Quincha, Mestizo – Brandini, 2017

B2b6a

Loja, Onacapa in Ecuador, Native – Brandini, 2017

B2b6a1

Pichincha, Quito, Ruminahui, Loja, Ganil in Ecuador, Native and Mestizo, also Peru – Brandini, 2017

B2b6a1a

Chimborazo, Riobamba, Chimborazo, Colta, Cotopaxi, Salcedo, Loja, Onacapa, Loja, Ganil, Quito, Pichincha, Pujili, Machachi in Ecuador, Native Puruha, Native Quitu-Cara/Cayambe Mestizo and Native – Brandini, 2017

B2b6b

Pichincha, Quito in Ecuador, Mestizo – Brandini, 2017

B2b6b1

Loja in Ecuador, Mestizo – Brandini, 2017

B2b6b1a

Loja, Gonzanama in Ecuador, Mestizo and Native, also Peru – Brandini, 2017

B2b7

Loja, Onocapa in Ecuador, Native and Mestizo – Brandini, 2017

B2b8

Peru – Brandini, 2017

B2b8a

Loja, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2b9

Peru – Brandini, 2017

B2b9a

Peru, 2 ancient and several contemporary – Brandini, 2017

B2b9b

Peru, 2 ancient and 2 contemporary – Brandini, 2017

B2b9c

Los Rios, Babahoyo in Ecuador, Mestizo, also Peru, 2 ancient – Brandini, 2017

B2b10a

Peru – Brandini, 2017

B2b10b

Peru – Brandini, 2017

B2b11

Peru, 4 ancient and 3 contemporary – Brandini, 2017

B2b11a

Peru, 3 ancient samples – Brandini, 2017

B2b11a1

Peru – Brandini, 2017

B2b11a1a

Peru – Brandini, 2017

B2b11b

Peru – Brandini, 2017

B2b11b1

Peru – Brandini, 2017

B2b12a

Morona-Santiago, Yaupi in Ecuador, Native Shuar, also Peru – Brandini, 2017

B2b12b

Peru – Brandini, 2017

B2b13

Peru – Brandini, 2017

B2c

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Asia – Herrnstadt
Anzick Provisional Extract, Estes January 2015 – (2 B2c)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ottawa River, Canada, Fulton Co., Pennsylvania, Orange Co., New York, Martin Co., North Carolina and San Luis Potosi, Mexico – Haplogroup B project at Family Tree DNA in August 2019

B2c1

Achilli, 2008
Shown in Mexico in the Haplogroup B project at Family Tree DNA
B2c2a
shown in Mexico in the Haplogroup B project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c1b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c1c

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c2a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c2b

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 B2c2b)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2d

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
North America – Mishmar
Ngoebe, Wayuu – Tamm
Shown in South America in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (7 B2d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ngoebe – Tackney 2015 supplement 1

B2e

Waiwai – Fagundes
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2f

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar
Chile – FTDNA
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (3 B2f)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2g

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 B2g)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2g1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 B2g1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2g2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2h

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2a1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2b1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2j

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2k

Mexico – Kumar
Venezuela – Gomez-Carballa
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2l

Peuhuenche, Mapuche, Huilliche, Mapuche ARG and Tehuelche Chile and Argentina, South America – de Saint Pierre, 2012
Wintu tribe descendant, Wintu DNA Project at Family Tree DNA, August 2019

B2l1

Mexico – HGDP

B2l1a

Loja, Ganil in Ecuador, Mestizo – Brandini, 2017

B2l1a1

Loja, Onacapa, Ganil in Eduador, Native – Brandini, 2017

B2m

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2n

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2o

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cherokee, Cherokee DNA Project at Family Tree DNA, October 2020

B2o1

Loja, Quilanga, Chimborazo, El Altar in Ecuador, Mestizo – Brandini, 2017

B2o1a

Bolivia – Taboada-Eschalar, 2013

B2p

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2q

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hispanic – Just, 2015
Mexico – Kumar, 2011

B2q1

Pichincha, Zambiza, Loja, Catacocha, Onacapa in Ecuador, Native and Mestizo, also Peru – Brandini, 2017

B2q1a

Loja, Ganil, El Oro, Arenillas in Ecuador, Mestizo, also Peru – Brandini, 2017

B2q1a1

Loja, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2q1b

Peru, ancient and Ecuador, Mestizo – Brandini, 2017

B2r (Phylotree V17)

American Indian Project, Zacatecas, Mexico
Mexico, Haplogroup B Mitochondrial DNA Project at Family Tree DNA, January 8, 2019

B2s

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2t

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2u

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2v

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2w

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2y

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017

B2y1

Chaco Canyon burials, Kennett 2017
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2y2

Peru, ancient and contemporary – Brandini, 2017

B2z

Ecuador, Mestizo – Brandini, 2017

B2z1

Cotopaxi and Sigchos in Ecuador, Mestizo and Native Panzaleo (Quincha) – Brandini, 2017

B2z1a

Loja, Ganil, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2-T16311C!

Shown in Mexico in the Haplogroup B project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 B4)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4a1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 B4a1a)

B4a1a1

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade. Goncalves 2013, Polynesian motif,
Anzick Provisional Extract, Estes January 2015 – (1 B4a1a1) – full genome sequencing shows these remains to be entirely Polynesian, Malaspinas, 2015, Estes 2015.
Note August 30, 2016 – Te Papa’s archival records dating back to 1883/84 indicate that a Māori skull and a Moriori skull were sent to the National Museum in Rio de Janeiro in the early 1880s. In 2013-14, the findings of DNA research which included samples of Botocudo Indians housed at National Museum in Rio de Janeiro indicated that two of the Botocudo ancestors had typical Polynesian DNA sequences. It seems likely that these two “Botocudo Indians” with Polynesian DNA are the Tupuna (ancestors) that were sent from the Wellington Colonial Museum (now Te Papa) in the 1880s.

B4a1a1a

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade. Goncalves 2013, Polynesian motif – full genome sequencing shows these remains to be entirely Polynesian, Malaspinas, 2015, Estes 2015. See August 30, 2016 note for B4a1a1.

B4a1b

Anzick Provisional Extract, Estes January 2015 – (1 B4a1b)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4a1b1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4b

2007 Tamm
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4b1

Anzick Provisional Extract, Estes January 2015 – (1 B4b1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4bd

2007 Tamm
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4c1b

Anzick Provisional Extract, Estes January 2015 – (2 B4c1b)
B4f1
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4f1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4’5

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown as European and East Asian and Mexican and South America and Nicaragua and Guatemaula and Cuba and Pacific Islands and identified as Ho-Chunk and descended from Pistikiokonay Pushmataha, b. 1766 (Choctaw) and Eastern Cherokee and Chickasaw and Creek in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (15 B4’5)
Please note that not all B4’5 is Native

B5b2

Native American branch of haplogroup B with roots in the Altai-Sayan Upland. Starikovskaya, 2005

B5b2a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B5b2a2

Phylotree, Japanese and Polynesian samples
Hungarian sample, Haplogroup B Project at Family Tree DNA, January 2020

B5b3

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2e

Gran Chaco, Argentina – Sevini 2014

B21

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013

Haplogroup C

Cherokee East and Mexico and Turkey and Puerto Rico and Ecuador and Argentina and Poland and Canada in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (35 C with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Please note that not all haplogroup C without a subclade is Native

Native – 2008 Achilli, 2007 Tamm
Mexican – 2007 Peñaloza-Espinosa, Kumar 2011
Poturujara – Fagundes 2008
Hispanic American – Just 2008
Arara do Laranjal and Quechua and Yanomama and Waiwai and Zoro – Fagundes 2008
Waiwai, Brazil, Zoro, Brazil, Quechua, Bolivia, Arara, Brazil, Poturujara, Brazil – Fagundes 2008
Native American – Mishmar 2003
Warao – Ingman 2000
Anzick Provisional Extract, Estes January 2015 – (25 C1 with no subgroup)
Remains from Wizard’s Beach in Nevada– Chatters, 2015
Aymara, Atacameno, Mapuche, Huilliche, Kawesqar, Mapuche, Teheulche and Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016
Wizard’s Beach, Nevada – Tackney, 2016
High Percent C1 published populations: Norris Farms 700 YBP, Cecil (3600-2860 YBP,) Cook 2000 YBP, Hualapai, Delta Yuman, Akimal O’odham (Pima,), La Calenta (Tainos) (1330-320 YBP,) Arawaken, Guambiano, Desano, Movina, Ignaciano

C1a

Kumar 2011
Ulchi – Starikovskaya
Siberia – Derenko,
Nanaitci – Ingham_gyll
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ulchi, Hispanic, Japanese, Buryat, Nanaitci – Tackney 2015 supplement 1

C1b

Beringian Founder Haplogroup – 2008 Achilli
Wayuu – 2007 Tamm
Pima, Mexico – Hartmann 2009
Mexican American – Kumar 2011
Quechua and Zoro and Arara and Poturujara – Fagundes 2008
Peru – Tito
Colombia – Zheng
Samish on Guemes Island and Fidalgo Island, British Columbia, American Indian DNA Project, 2014
Anzick Provisional Extract, Estes January 2015 – (26 C1b)
Central Alaska from circa 11,500 before present – 2015 Tackney et al
Gran Chaco, Argentina – Sevini 2014
Mexico and Ecuador in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Inca culture, Llullaillaco, Argentina – Llamas, 2016
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Wari culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Chullpa Botigiriayocc, Peru- Llamas, 2016
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016
Aceramic culture, Cueva Candelaria, Mexico – Llamas, 2016
Mexico, Peru, Ecuador, Colombia, Brazil – Gomez-Carballa 2015
Upward Sun River, Alaska – Tackney, 2015
Canary, Hispanic, Pima – Tackney 2015 supplement 1
Pichincha, Quito, Chimborazo, Guamote, Cotopaxi, Salcedo, Machachi, Azuay, Cuenca, Loja in Ecuador, Mestizo, Native Quitu-Cara/Cayambe and Native Puruha, also in Peru, 7 ancient and 16 contemporary, Mestizo – Brandini, 2017
Wintu tribal survivors, private correspondence to Roberta Estes, August 2019

C1b1

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar
North America – Mishmar
Anzick Provisional Extract, Estes January 2015 – (1 C1b1)
Mexico in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b1a

Mexico, USA – Gomez-Carballa, 2015

C1b1b

Mexico, USA – Gomez-Carballa 2015

C1bi

Gomez-Carbala, 2015, Complete Mito Genome of 500 Year Old Inca Child Mummy

C1b2

Hispanic – Parsons
Peru – Tito
Asia – Herrnstadt
Anzick Provisional Extract, Estes January 2015 – (27 C1b2)
Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Puerto Rico and Taino in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Gomez-Carballa 2015
Lima in Peru, also Morona Santiago, Taisha, Loja, Pichincha, Quito in Ecudaor, Native Shuar, Native Cayambe, Mestizo – Brandini, 2017

C1b2a

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b2a1

Peru – Brandini, 2017

C1b2b

Puerto Rico – Gomez-Carballa 2015

C1b3

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Gran Chaco, Argentina – Sevini 2014
Hispanic – Parsons
Peru – Tito
Anzick Provisional Extract, Estes January 2015 – (1 C1b3)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA, Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b4

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Puerto Rico in the Haplogroup C project at Family Tree DNA
Hispanic – Parsons
Anzick Provisional Extract, Estes January 2015 – (6 C1b4)
Durango, Mexico from American Indian DNA Project at Family Tree DNA (November 2015)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Puerto Rico, USA – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b5

Achilli, 2008
Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b5a

Hispanic – Parsons
Mexican – Kumar
Mexico, USA – Gomez-Carballa 2015

C1b5b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b6

Yanomama – Fagundes
Brazil – Gomez-Carballa 2015

C1b7

Mexican – Kumar
Anzick Provisional Extract, Estes January 2015 – (1 C1b7)
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico, Haplogroup C project at Family Tree DNA
Mexico, Mitosearch
Rumsen peoples, Monterey Mission, California – Breschini and Hversat
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b7a

Mexico – Haplogroup C project at Family Tree DNA,
Mexico – Mitosearch
Mexican – Kumar
Anzick Provisional Extract, Estes January 2015 – (1 C1b7a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b7a1

Mexico, USA – Gomez-Carballa 2015

C1b7b

Mexico, USA – Gomez-Carballa 2015

C1b8

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b8a

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b8a1

Mexico, USA – Gomez-Carballa 2015

C1b9

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b9a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b10

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b10a

Mexico, USA – Gomez-Carballa 2015

C1b11

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Pima, Mexico – Hartman
Mexico – Kumar
Mexico – Zheng
Anzick Provisional Extract, Estes January 2015 – (5 C1b11)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b11a1

Mexico, USA – Gomez-Carballa 2015

C1b11b1

Mexico, USA – Gomez-Carballa 2015

C1b12

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b12a

Mexico, USA – Gomez-Carballa 2015

C1b13

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013
Chilean and Kolla – de Saint Pierre, Dec. 2012
Atacameno, Pehuenche, Mapuche, Huilliche, Kawesqar, Mapuche, Tehuelche and Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile, Argentina – Gomez-Carballa 2015

C1b13a

Huilliche and Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13a1

Huilliche and Chilean – de Saint Pierre. Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13a1a

Chile, Haplogroup C Project at Family Tree DNA, January 8, 2019

C1b13b

Huilliche, Chilean and Spain – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13c

Mapuche and Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b13c1

Chilean and Penuenche – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13c2

Chile, Argentina – Gomez-Carballa 2015

C1b13d

Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13e

Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b14

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b11

Mexico in the Haplogroup C project at Family Tree DNA

C1b15

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b15a

Brazil – Gomez-Carballa 2015

C1b16

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b17

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b18

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b19

Peru – Gomez-Carballa 2015
Peru, 9 ancient and 2 contemporary – Brandini, 2017

C1b20

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b21

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b21a

Peru – Gomez-Carballa 2015
Peru, 2 ancient and 2 contemporary – Brandini, 2017

C1b22

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b23

Loja, Tuncarta, Onacapa, Ganil, Catacocha in Ecuador, Native, Native Saraguro and Mestizo – Brandini, 2017

C1b24

Peru – Brandini, 2017

C1b25

Peru – Brandini, 2017

C1b26a

Tungurahua in Ecuador, Mestizo, also Peru – Brandini, 2017

C1b26a1

Peru – Brandini, 2017

C1b27

Peru, 1 ancient and 2 contemporary – Brandini, 2017

C1b28

Chimborazo, Alausi, Loja in Ecuador – Brandini, 2017

C1b29

Bolivar, Cotopaxi, Mana, Quito, Loja in Ecuador, Native and Mestizo – Brandini, 2017

C1ba

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

C1b-T16311C

Anzick Provisional Extract, Estes January 2015 – (1 C1b-T16311C)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c

Beringian Founder Haplogroup – 2008 Achilli
Arsario, Colombia – Fagundes 2008
Kogui, Colombia – Fagundes 2008
Kogui and Arsario
Mexican American – Kumar 2011
Kogui – Tamm 2007
Hispanic – Parsons
Canada – Achilli
Canada – Behar
Cherokee and Cuba in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (34 C1c)
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Hispanic, Kogui, Arsario – Tackney 2015 supplement 1
Chimborazo, Riobamba in Ecuador, Mestizo, also in Peru, 4 ancient and 5 contemporary – Brandini, 2017

C1c1

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 C1c1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chancay culture, Pasamayo, Peru – Llamas, 2016
Nasca culture, Juaranga, Peru – Llamas, 2016
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016

C1c1a

Asia – Herrnstadt
Pima, Mexico – Hartman and Lippold
Mexico – Zheng
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c1b

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico and USA – Behar
Mexico in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (6 C1c1b)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c2

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
HIspanic – Parsons
Mexico – Kumar
Cuba – FTDNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c3

Arsario and Kogui – Tamm
Colombia – Behar and Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c4

Dominica – Bravi
Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c5

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Mexico – Kumar
Pima – Lippold
Mexico – Zheng
Mexico in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 C1c5)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c6

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar and Behar
Hispanic – Just
Anzick Provisional Extract, Estes January 2015 – (7 C1c6)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Wintu tribe survivors, Wintu DNA Project at Family Tree DNA, August 2019

C1c7

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c8

USA – Achilli
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c8-A19254G, C16114T

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d

Beringian Founder Haplogroup – 2008 Achilli
Coreguaje – 2007 Tamm
Coreguaje, Colombia – Fagundes 2008
Tamaulipas and Guanajuato and Chihuahua and Kolla-Salta and Buenos Aires and Boyacá, Colombia and Mexico – Perego 2010
Chihuahua, Mexico, Salta, Argentina – Perego 2010
Mexican American – Kumar 2011
Anzick Provisional Extract, Estes January 2015 – (4 C1d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hispanic, Coreguaje – Tackney 2015 supplement 1

C1d-C194T

Mexico, and Argentina and Colombia – Perego,

C1d1

Warao, Venezuela – Ingman 2000
Rio Grande do Sul, Brazil and Lima, Peru and Buenos Aires and Loreta, Peru and Imbabura, Ecuador and Mestizos in Colombia and Minas Gerais, Brazil and Cajamarca, Peru and Huanucu,Peru and Puca Puca, Peru and Mato Grosso do Sul, Brazil and Chaco, Paraguay and Kolla-Salta and Piura, Peru and Huancavelica, Peru and Corrientes and Los Lagos, Chile and Oklahoma and Kuna Yala, Panama and Darien, Panama and Puerto Cabezas, Nicaragua and Eduador and Uruguay and Nicaragua – Perego 2010
Fagundes 2008
Tamm, 2007
Coreguaje – Tamm
Warao – Ingman
American – Kivisild
Hispanic – Parsons
Brazil – Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Loja, Ganil in Ecuador, Mestizo, also Lima in Peru and 1 ancient sample – Brandini, 2017

C1d1a

Sonora and Mexico – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1a1

Oklahoma and Montana and Quebec and Zacatecas – Perego 2010
Canada-Cree – Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1b

Argentina and Kolla-Salta and Diaguita-Catamarca and Buenos Aires and Rio negro and Corrientes and Flores, Uruguay – Perego 2011
Rio Grande do Sul, Brazil, Buenos Aires, Argentina, Loreto, Peru, Minas Gerais, Brazil, Cajamarca, Peru, Huánuco, Peru, Puca Pucara, Peru, Chaco, Paraguay, Huancavelica, Peru, Los Lagos, Chile, Panama – Perego 2010
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1b1

Argentina – Perego
Buenos Aires, Argentina, Rio Negro, Argentina, Buenos Aires, Argentina – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1c

Oaxaca and Mexico – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1c1

Just 2008
Texas and Michigan – Perego 2010
Kumar 2011
Hispanic – Parsons
Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1d

Buenos Aires and Rio Grande do Sul, Brzil and Uruguay and Argentina – Perego 2010
Buenos Aires, Argentina, Rio Grande do Sul, Brazil, Uruguay – Perego 2010
Coreguaje – Tamm
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Pichincha, Conocoto in Ecuador, Native Quitu-Cara – Brandini, 2017

C1d1e

Bio-Bio, Chile and Rio Negro – Perego 2010
Biobio, Chile, Rio Negro, Argentina – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017

C1d1f

Imbabura, Pichincha, Ruminahui, Quito, Cotopaxi in Ecuador, Mestizo – Brandini, 2017

C1d2

Mestizos in Colombia – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d2a

Mestizos in Colombia – Perego 2010
Mestizo, Colombia – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d3

Uruguay – Sans
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d-C194T

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1e

Icelandic – Tackney 2015 supplement 1

Mexican – 2007 Peñaloza-Espinosa

C2b

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

2007 Tamm
Anzick Provisional Extract, Estes January 2015 – (4 C4 with no subgroup)
Chippewa – White Earth Reservation, Minnesota – private test at 23andMe
Inupiat people from Alaska North Slope – Raff 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4a

Native American and Siberian, Kumar 2011
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4a1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Buryat and Eleeut – Derenko
India and Russia and Turkey – FTDNA
India in the Haplogroup C project at Family Tree DNA

C4b

Kumar 2011
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c

Beringian Founder Haplogroup – 2008 Achilli

2007 Tamm – found in only 2 samples, an Ijka sample from South America and a Shuswap speaker from North America,
Shuswap Speaker, North America – Malhi 2010 (Suswap is now C4c1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Suswap – Malhi
N American – Kashani
Anzick Provisional Extract, Estes January 2015 – (1 C4c1)
Chippewa Cree, Jasper House, Alberta, Canada (1835), FTDNA American Indian Project
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c1a

North American – Kashani, Cherokee in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c1b

North American – Kashani
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c2

North American – Kashani
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4e

Uika – Tamm 2007
Shor and Teleut – Derenko
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Haplogroup D

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Choctaw and Korea and Japan and Mexico and Venezuela found in the Haplogroup D project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (7 D with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Chile, Haplogroup D Project at Family Tree DNA, January 8, 2019
Please note that not all haplogroup D without a subgroup is Native American

Native, Beringian Founder Haplogroup – 2008 Achilli
Coreguaje – 2007 Tamm
Mexican – 2007 Peñaloza-Espinosa
Hispanic American – 2008 Just
Mexican American – Kumar 2011
North American – Henstadt 2008 and Achilli 2008
Katuena and Poturujara and Surui and Tiryo and Waiwai and Zoro and Gaviao and Guarani/Rio-das-Cobras – Fagundes 2008
Gaviao, Brazil, Surui, Brazil, Waiwai, Brazil, Katuena, Brazil, Poturujara, Brazil, Tiryo, Brazil – Fagundes 2008
Karitiana, Brazil – Hartmann 2009
Guarani – Ingman 2000
Native American – Mishmar 2003
Guarani and Brazilian and Que Chia and Pima Indian – Kivisild 2006
British Colombia found in the Haplogroup D project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (59 D1)
D1 from 12,000-13,000 skeletal remains found in the Yukatan, Chatters et al 2014, Chatters et al 2015
Gran Chaco, Argentina – Sevini 2014
Chumash, Rumsen, Yokuts, Tubatulabal, Mono, Gabrielino – Breschini and Haversat 2008
Aymara, Atacameno, Huilliche, Kawesqar, Mapuche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
Rio Negro, Argentina, Buenos Aires, Argentina, Tarapaca, Chile, Maule, Chile, Atacama, Chile, Mapuche, Argentina, Biobio, Chile, Cordoba, Argentina, Valparaiso, Chile – Bodner 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Loja in Eduador, Mestizo, also several Peru, Mestizo and 3 ancient samples

D1a

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Columbia, Haplogroup D Mitochondrial Project at Family Tree DNA, January 8, 2019

D1a1

Brazil – Kivisild 2006

D1a1a1

Aleut – 2008 Volodko
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1a2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1b

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1c

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1d

Achilli, 2008, Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 D1d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1d1

Mexico, Haplogroup D Project at Family Tree DNA, January 8, 2019

D1d2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1f

Kumar 2011
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Loja, Pichincha, quito, Cotopaxi, Cusubamba, Calvas in Ecuador, Mestizo and Native Panzaleo (Quincha), also Peru – Brandini, 2017
Coreguaje of Colombia – Tamm, 2007

D1f1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Waiwai, Katuena and Tiryo of Brazil – Faguendes, 2008
Venezuela – Brandini, 2017
Karitiana of Brazil – Zheng, 2014, direct submission

D1f2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Colombia – HGDP

D1f3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Kumar, 2011

D1g

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013
Aymara, Pehuenche, Mapuche, Huilliche, Mapuche, Tehuelche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g2a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g4

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g5

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g6

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1h

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1i

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1i2

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1j

Gran Chaco, Argentina – Sevini 2014

D1j1a

Gran Chaco, Argentina – Sevini 2014
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1j1a1

Gran Chaco, Argentina – Sevini 2014

D1k

Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – HGDP
Hispanic – Just, 2008
Mexico – Kumar, 2011

D1k1

Peru – Brandini, 2017
Hispanic – Just, 2015

D1k1a

Peru – Brandini, 2017

D1m

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1n

Mexico, Haplogroup D Project at Family Tree DNA, January 8, 2019

D1o

Peru, 1 ancient and several contemporary – Brandini, 2017

D1p

Peru – Brandini, 2017

D1q

Peru – Brandini, 2017

D1q1

Peru – Brandini, 2017

D1r

Peru, Mestizo – Brandini, 2017

D1r1

Peru – Brandini, 2017

D1s

Peru – Brandini, 2017

D1s1

Peru – Brandini, 2017

D1t

Peru – Brandini, 2017

D1u

Peru, ancient sample – Brandini, 2017

D1u1

Peru, Mestizo – Brandini, 2017

Aleut, Commander Islands and Eskimo, Siberia – 2002 Derbeneva
2007 Tamm
Mexican – 2007 Peñaloza-Espinosa
Tlingit, Commander Island – Volodko 2008
Inupiat people from Alaska North Slope, ancient Paleo-Eskimos – Raff 2015
Miwok – Breschini and Haversat 2008
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a

NaDene – 2002 Derbeneva
2008 Achilli
Eskimo in Siberia – Tamm 2007
Late Dorset ancient sample, Tlingit (Commander Island) – Dryomov 2015
Inupiat people from Alaska North Slope – Raff 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a1

Aleut Islanders and northernmost Eskimos, Saqqaq Ancient sample, Middle Dorset ancient sample – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a1a

Aleut – 2008 Volodko
Aleut – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017
Commander Islands – 2008 Volodko (100%)

D2a1b

Sireniki (Russian) Eskimo – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a2

Chukchi – Derenko, Ingman, Tamm and Volodko
Eskimo – Tamm and Volodko
Siberia – Derbeneva
Eskimos and Chikchi – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2b

2007 Tamm
Aleut 2002
Derbeneva, Russia – Derenko
Siberian mainland cluster – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2c

Eskimo – 2002 Derbeneva
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Inuit – 2008 Achilli
2007 Tamm
Inupiat people from Alaska North Slope (noted as currently D4b1a) – Raff 2015
Ancient Neo-Eskimos, Kitanemuk, Kawaiisu – Breschini and Haversat 2008
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D3a2a

Greenland – 2008 Volodko

D3a2a

Canada – 2008 Volodko

2007 Tamm
Cayapa, Ecuador – Fagundes 2008
Anzick Provisional Extract, Estes January 2015 – (2 D4)
Chumash – Breschini and Haversat 2008
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4b1

Anzick Provisional Extract, Estes January 2015 – (1 D4b1)

D4b1a

Inupiat people from Alaska North Slope (noted as formerly D3), ancient Neo-Eskimos – Raff 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4b2a2

Anzick Provisional Extract, Estes January 2015 – (1 D4b2a2)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1

Mexican American – Kumar 2011
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1a1

Anzick Provisional Extract, Estes January 2015 – (1 D4e1a1)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1c

Kumar 2011 – found in Mexican Americans (2 sequences only)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4g1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3

Beringian Founder Haplogroup – 2008 Achilli
2007 Tamm
Anzick Provisional Extract, Estes January 2015 – (1 D4h3)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a

Veracruz, Mexico, Arequipa, Peru, Loreto, Peru, Ancash, Peru, San Luis Potosi, Mexico, Maranhao, Brazil – Perego 2009
Mexican American – Kumar 2011
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 D4h3a)
Raff and Bolnick, Nature February 2014 – Anzick’s haplogroup
Remains from On Your Knees Cave in Alaska, Chatters, 2015
Gran Chaco, Argentina – Sevini 2014
Aymara, Mapuche, Huilliche, Kawesqar, Tehuelche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
Native American Mitochondrial
DNA Haplogroups, Estes, 2017
On Your Knees Cave, Alaska, 10,300 YPB – Lindo 2017
Peru and Ecuador, Cayapa and Mestizo – Brandini, 2017

D4h3a1

Coquimbo, Chile, O’Higgins, Chile, Coquimbo, Chile, Santiago, Chile, Los Lagos, Chile, Bio-Bio, Chile – Perego 2009

D4h3a1a

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a1a1

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a2

Gran Chaco, Argentina – Sevini 2014

D4h3a3

Chihuahua, Mexico, Tarahumara, Mexico, Nuevo Leon, Mexico – Perego 2009

D4h3a4

Arequipa, Peru – Perego 2009
Peru – Brandini, 2017

D4h3a5

Maule, Chile, Los Lagos, Chile, Santiago, Chile – Perego 2009
Equador and Peru – Brandini, 2017

D4h3a6

Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cotopaxi, Farahugsha in Ecuador, Native Panazleo (Quincha), also Peru – Brandini, 2017

D4h3a7

British Columbia ancient sample 939, may be extinct – Ciu 2013
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a8

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a9

Peru – Brandini, 2017

D4h3a11

Peru – Brandini, 2017

D4j

Anzick Provisional Extract, Estes January 2015 – (2 D4j)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4j8

Gran Chaco, Argentina – Sevini 2014

Cahuilla – Breschini and Haversat 2008

D5a2a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D5b1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Costanoan – Breschini and Haversat 2008

Chumash – Breschini and Haversat 2008

Vanyume – Breschini and Haversat 2008

Yokats – Breschini and Haversat 2008

D10

Salinan – Breschini and Haversat 2008

Haplogroup F

F1a1

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – Mexico in American Indian Project

Haplogroup M

Discovered in prehistoric sites, China Lake, British Columbia – 2007 Malhi
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Native American Mitochondrial DNA Haplogroups, Estes, 2017- Probably Native

M1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M1a1b

Anzick Provisional Extract, Estes January 2015 – (1 M1a1b)

M1a1e

USA – Olivieri
Many Eurasian in Genbank

M1b1

Anzick Pr ovisional Extract, Estes, September 2014, kits F999912 and F999913

M2a3

Anzick Provisional Extract, Estes January 2015 – (1 M2a3)

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M5b3e

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M7b1’2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 M7b1’2)

M9a3a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M18b

Native American Mitochondrial DNA Haplogroups, Estes, 2017

M23

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913,
Madagascar – Recaut and Debut, Madagascar Motif

M30c

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M30d1

Anzick Provisional Extract, Estes January 2015 – (1 M30d1)

M51

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

Haplogroup X

A founding lineage – found in ancient DNA Washington State – 2002 Malhi
2007 Tamm
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a

Native, Beringian Founder Haplogroup – 2008 Achilli
2007 Tamm
2000 Schurr
Newfoundland found in the Haplogroup X project at Family Tree DNA
Kennewick Man
Saskatchewan, Norway House in Manitoba, Ontario, Pasadena in California, Chihuahua in Mexico – 2016 Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1

Chippewa – Fagundes
Ojibwa – Achilli and Perego
Canadian Ojibwa – Rieux
Indian Territory – American Indian project at Family Tree DNA
Estes X2a (2016)
Virginia, Manitoba, Manitolin Island on the border between the US and Canada – Haplogroup X Project at Family Tree DNA
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Sioux and USA – Perego
Anzick Provisional Extract, Estes January 2015 – (1 X2a1a)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1a1

Jemez and Siouian – Fagundes
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b

Western Chippewa – Fagundes
USA and Obijwa – Perego
Edmonton, Alberta and Selkirk, Manitoba – Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b1

USA – Perego
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Western Chippewa and Chippewa – Fagundes
Anzick Provisional Extract, Estes January 2015 – (2 X2a1b1a)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1c

Western Chippewa – Fagundes
USA – Perego
La Pointe, Wisconsin and St. Ignace, Michigan – Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a2

Navajo – Mishmar
USA – Perego
Anzick Provisional Extract, Estes January 2015 – (1 X2a2)
Manawan in Quebec, Newfoundland Island, Cape Breton, Nova Scotia, Newfoundland and Labrador – Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2b

European – note that 2008 Fagundes removed a sample from their analysis because they believed X2b was indeed European not X2a Native
Anzick Provisional Extract, Estes January 2015 – (2 X2b)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2b-T226C

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 X2b-T226T confirmed Irish, not Native)

X2b3

America – Kivisild

X2b4

European, not Native American, Estes, September 2016
Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2b5

Not Native American – Cherokee DNA Project

X2b7

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – Not Native

X2c

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2c1

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2c2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

X2d

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017- probably not Native

X2e1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Behar notes two submissions at mtdnacommunity that are likely European
2 confirmed X2e1 from Valcea , Romania at Family Tree DNA
Native American Mitochondrial DNA Haplogroups, Estes, 2017 – probably not Native

X2e2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 X2e2)
Native American Mitochondrial DNA Haplogroups, Estes, 2017 – probably not Native

X2g

Identified in single Ojibwa subject – Achilli 2013
Ojibwa – Perego

X2e

Altai people, may have arrived from Caucus in last 5000 years

X2e1

Isle of Wight County, Virginia – – American Indian project at Family Tree DNA
Estes X2a (2016)

Found in the Tarahumara and Huichol of Mexico, 2007 Peñaloza-Espinosa

MtDNA References

Mitochondiral genome variation and the origin of modern humans, Ingman et al, Natuer 2000, http://www.nature.com/nature/journal/v408/n6813/full/408708a0.html

Mitochondrial DNA and the Peopling of the New World, Theodore Schurr, American Scientist, 2000, http://www.sas.upenn.edu/~tgschurr/pdf/Am%20Sci%20Article%202000.pdf

Brief Communication: Haplogroup X Confirmed in Prehistoric North America, Ripan Malhi et al, American Journal of Physical Anthropology, 2002, http://deepblue.lib.umich.edu/bitstream/handle/2027.42/34275/10106_ftp.pdf

Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia, Olga Derbeneva et al, American Journal of Human Genetics, June 2002, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379174/

High Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent Entry of native American Y Chromosomes into the Americas, Zegura et al, Oxford Journals, 2003, http://mbe.oxfordjournals.org/content/21/1/164.full.pdf

Ancient DNA – Modern Connections: Results of Mitochondrial DNA Analyses from Monterey County, California by Gary Breschini and Trudy Haversat published in the Pacific Coast Archaeological Society Quarterly, Volume 40, Number 2, (written 2004 although references are later than 2004, printed 2008)

Ancient individuals from the North American Northwest Coast reveal 10,000 years of regional genetic continuity by John Lindo et al, published in PNAS April 2017

Mitochondrial haplogroup M discovered in prehistoric North Americans, Ripan Malhi et al, Journal of Archaeological Science 34 (2007), http://public.wsu.edu/~bmkemp/publications/pubs/Malhi_et_al_2007.pdf

Beringian Standstill and Spread of Native American Founders, Erika Tamm et al, PLOS One, September 2007, http://www.plosone.org/article/info:doi/10.1371/journal.pone.0000829

Characterization of mtDNA Haplogroups in 14 Mexican Indigenous Populations, Human Biology, 2007

Achilli A, Perego UA, Bravi CM, Coble MD, et al. (2008) The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies. PLoS ONE 3(3): e1764. doi:10.1371/journal.pone.0001764 http://www.plosone.org/article/info:doi/10.1371/journal.pone.0001764

Complete mitochondrial genome sequences for 265 African American and US “Hispanic” individuals, Forensic Science Int. Genetics, 2 e45-e48, 2008, Just et al

Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas, American Journal of Human Genetics, 82, 583-592, 2008 Fagundes et al

The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies, Achilli et al, PLOS, March 2008, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0001764

Mitochondrial genome diversity in arctic Siberians with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americans, Natalia Volodko, et al, American Journal of Human Genetics, June 2008 http://www.ncbi.nlm.nih.gov/pubmed/18452887

A Reevaluation of the Native American MtDNA Genome Diverstiy and Its Bearing on the Models of Early colonization of Beringia, Fagundes et al, PLOS One, Sept. 2008, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0003157

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes, Hum. Mutat. 30, 115-122, (2009)H Hartmann et al

Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups, Current Biology 19 1-8 (2009) Perego et al

Initial peopling of the Americas: A growing number of founding mitochondrial genomes from Beringia, Genome Research 20, 1174-1179, 2010 Perego et al

Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins, Kumar et al, Congress of the European Society for Evolutionary Biology, October 2011, http://www.biomedcentral.com/1471-2148/11/293

Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins, Kumar et al, 2011, Evolutionary Biology, http://www.biomedcentral.com/1471-2148/11/293/

Decrypting the Mitochondrial Gene Pool of Modern Panamanians, Ugo Perrego, et al, PLOS One, June 2012, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0038337

An Alternative Model for the Early Peopling of Southern South America Revealed by Analyses of Three Mitochondrial DNA Haplogroups, de Saint Pierre et al, 2012, PLOS

Rapid coastal spread of first Americans: Novel insights from South America’s Southern Cone mitochondrial genomes, Genome Research 22, 811-820, 2012, Bodner et al

Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes, de Saint Pierre et al, Dec. 2012, PLOS

Genetic uniqueness of the Waorani tribe from the Ecuadorian Amazon, Heredity 108, 609-615, 2012, Cardoso et al

Reconciling migration models to the Americas with the variation of North American native mitogenomes, Alessandro Achjilli et al, PNAS Aug. 2013, http://www.pnas.org/content/early/2013/08/08/1306290110.full.pdf+html

Ancient DNA Analysis of Mid-Holocene Individuals from the Northwest Coast of North America Reveals Different Evolutionary Paths for Mitogenomes, Yinqui Ciu et al, PLOS One, July 2013 http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0066948

Identification of Polynesian mtDNA haplogroup in remains of Botocudo Americndians from Brazil, Goncalves et al, 2013, PNAS http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631640/

Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern Native Americans” by James Chatters et al, May 2014, Science

Genetic roots of the first Americans, Raff and Bolnick, (February 2014), Nature

Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern native Americans by Chatters, et al, Science, Vol 244, May 16, 2014

Two ancient genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil, by Malaspinas et al, Current Biology, November 2014

Botocudo Ancient Remains from Brazil, by Roberta Estes, July 2015

Two contemporaneious mitogenomes from terminal Pleistocene burials in eastern Beringia, Tackney et al, 2015, PNAS

The complete mitogenome of 500-year old Inca child mummy, 2015, Nature, Gomez-Carballa et al

Does Mitochondrial Haplogroup X Indicate Ancient Trans-Atlantic Migration to the Americas? A Critical Re-Evaluation, 2015, PubMed, Raff and Bolnick

Mitochondrial diversity of Iñupiat people from the Alaskan North Slope provides evidence for the origins of the Paleo- and Neo-Eskimo peoples by Raff et al, (April 17, 2015) American Journal of Physical Anthropology http://onlinelibrary.wiley.com/doi/10.1002/ajpa.22750/
http://www.eurekalert.org/pub_releases/2015-04/nu-dsa042715.php

Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America – Dryomov et al, European Journal of Human Genetics, 2015

MtDNA Haplogroup A10 Lineages in Bronze Age Samples Suggest That Ancient Autochthonous Human Groups Contributed to the Specificity of the Indigenous West Siberian Population by Pilipenko, et al, PLOS One, 2015

A Reappraisal of the early Andean Human Remains from Lauricocha in Peru by Fehren-Schmitz et al, PLosS ONE 10 (6)(2105)

Ancestry and affiliations of Kennewick Man by Rasmussen et al, Nature, June 18, 2015

Ancient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas, Llamas et al, Science Advances April 1, 2016 Vol. 2 No. 4, e1501385 http://advances.sciencemag.org/content/2/4/e1501385

Native American Haplogroup X2a – Solutrean, Hebrew or Beringian?, 2016, Estes

X2b4 is European, Not Native American, Estes, September 2016

‘Human mitochondrial genomes reveal population structure and different phylogenies in Gran Chaco (Argentina)’ by Sevini, F., Vianello, D., Barbieri, C., Iaquilano, N., De Fanti, S., Luiselli, D., Franceschi, C. and Franceschi, Z., sequences submitted to GenBank in January 2016 from 2014 unpublished paper

Archaeogenomic evidence reveals prehistoric matrilineal dynasty by Kennett et al, 2017, Nature Communications

New Native American Mitochondrial Haplogroups by Roberta Estes, March 2, 2017

DNA from Pre-Clovis Human Coprolites in Oregon, North America by M. Thomas P. Gilbert et al, published in Science May 9, 2008

The Paleo-Indian Entry into South America According to Mitogenomes by Brandini, et al, Molecular Biology and Evolution, Volume 35, Issue 2, February 2018, Pages 299–311

Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of the Native American Haplogroups by Elena B. Starikovskaya et al, Annals of Human Genetics, January 2005 (only haplogroup B5 posted above)

Locals, resettlers, and pilgrims: A genetic portrait of three pre‐Columbian Andean populations. American Journal of Physical Anthropology, Baca, M., Molak, M., Sobczyk, M., Węgleński, P., & Stankovic, A. (2014). 154(3), 402-412

“Brief communication: Molecular analysis of the Kwäday Dän Ts’ finchi ancient remains found in a glacier in Canada.” Monsalve, M. Victoria, et al., American Journal of Physical Anthropology: The Official Publication of the American Association of Physical Anthropologists 119.3 (2002): 288-291

Ancient DNA reveals kinship burial patterns of a pre-Columbian Andean community, Baca, M., Doan, K., Sobczyk, M., Stankovic, A., & Węgleński, P. (2012) BMC genetics, 13(1), 30.

Ancient human parallel lineages within North America contributed to a coastal expansion. Scheib, C. L., Li, H., Desai, T., Link, V., Kendall, C., Dewar, G., … & Kerr, S. L. (2018). Science, 360(6392), 1024-1027.

Paleogenetical study of pre‐columbian samples from Pampa Grande (Salta, Argentina), Carnese, F. R., Mendisco, F., Keyser, C., Dejean, C. B., Dugoujon, J. M., Bravi, C. M., … & Crubézy, E. (2010), American Journal of Physical Anthropology: The Official Publication of the American Association of Physical Anthropologists, 141(3), 452-462

A re-appraisal of the early Andean human remains from Lauricocha in Peru. Fehren-Schmitz, L., Llamas, B., Lindauer, S., Tomasto-Cagigao, E., Kuzminsky, S., Rohland, N., … & Nordenfelt, S. (2015), PloS one, 10(6), e0127141.

Reconstructing the deep population history of Central and South America. Posth, C., Nakatsuka, N., Lazaridis, I., Skoglund, P., Mallick, S., Lamnidis, T. C., … & Broomandkhoshbacht, N. (2018), Cell, 175(5), 1185-1197.

Ancient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas. Llamas, B., Fehren-Schmitz, L., Valverde, G., Soubrier, J., Mallick, S., Rohland, N., … & Romero, M. I. B. (2016). Science advances, 2(4), e1501385.

A Paleogenomic Reconstruction of the Deep Population History of the Andes. Nakatsuka, N., Lazaridis, I., Barbieri, C., Skoglund, P., Rohland, N., Mallick, S., Posth, C., et al. (2020), Cell, 181 (5), 1131-1145.e21.

A genetic history of the pre-contact Caribbean. Fernandes, D. M., Sirak, K. A., Ringbauer, H., Sedig, J., Rohland, N., Cheronet, O., … & Adamski, N. (2020), bioRxiv

Genomic insights into the early peopling of the Caribbean. Nägele, K., Posth, C., Orbegozo, M. I., de Armas, Y. C., Godoy, S. T. H., Herrera, U. M. G., … & Laffoon, J. (2020). Science.

El análisis genético de paleo-colombianos de Nemocón, Cundinamarca proporciona revelaciones sobre el poblamiento temprano del Noroeste de Suramérica. Díaz-Matallana, M., Gómez Gutiérrez, A., Briceño, I., & Rodríguez Cuenca, J. V. (2016). Rev. Acad. Colomb. Cienc. Ex. Fis. Nat., 40(156), 461-483.

Genomic evidence for the Pleistocene and recent population history of Native Americans, Raghavan, M., Steinrücken, M., Harris, K., Schiffels, S., Rasmussen, S., DeGiorgio, M., … & Eriksson, A. (2015). Science, 349(6250).

Early human dispersals within the Americas. Moreno-Mayar, J. V., Vinner, L., de Barros Damgaard, P., De La Fuente, C., Chan, J., Spence, J. P., … & Rasmussen, S. (2018). Science, 362(6419).

Genetic continuity after the collapse of the Wari empire: Mitochondrial DNA profiles from Wari and post‐Wari populations in the ancient Andes. Kemp, B. M., Tung, T. A., & Summar, M. L. (2009). American Journal of Physical Anthropology: The Official Publication of the American Association of Physical Anthropologists, 140(1), 80-91

Aportes genéticos para el entendimiento de la organización social de la comunidad Muisca Tibanica (Soacha, Cundinamarca). Pérez, L., 2015. Ph.D. Dissertation, Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, Colombia.

Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern Argentina. Mendisco, F., Keyser, C., Seldes, V., Rivolta, C., Mercolli, P., Cruz, P., … & Ludes, B. (2014). Annals of Human Genetics, 78(5), 367-380.

Linajes mitocondriales en muestras de Esquina de Haujra (Jujuy, Argentina): Aportes al estudio de la ocupación incaica en la región y la procedencia de sus habitantes. Russo, M. G., Gheggi, M. S., Avena, S. A., Dejean, C. B., & Cremonte, M. B. (2016).

Linajes maternos en muestras antiguas de la Puna jujeña: Comparación con estudios de la región centrosur andina. Postillone, M. B., Fuchs, M. L., Crespo, C. M., Russo, M. G., Varela, H. H., Carnese, F. R., … & Dejean, C. B. (2017). Revista Argentina de Antropología Biológica, 19(1), 3.

Palaeo-Eskimo genetic ancestry and the peopling of Chukotka and North America. Flegontov, P., Altınışık, N.E., Changmai, P. et al. Nature 570, 236–240 (2019)

A paleogenetic perspective of the Sabana de Bogotá (Northern South America) population history over the Holocene (9000–550 cal BP). Delgado, M., Rodríguez, F., Kassadjikova, K., & Fehren-Schmitz, L. (2020). Quaternary International. In Press, Journal Pre-proof

Integration of ancient DNA with transdisciplinary dataset finds strong support for Inca resettlement in the south Peruvian coast. Bongers, J. L., Nakatsuka, N., O’Shea, C., Harper, T. K., Tantaleán, H., Stanish, C., & Fehren-Schmitz, L. (2020). Proceedings of the National Academy of Sciences

The population history of northeastern Siberia since the Pleistocene. Sikora, M., Pitulko, V.V., Sousa, V.C. et al. Nature 570, 182–188 (2019)

A Minimally Destructive Protocol for DNA Extraction from Ancient Teeth. Harney, É., Cheronet, O., Fernandes, D. M., Sirak, K., Mah, M., Bernardos, R., … & Oppenheimer, J. (2020). bioRxiv

A dynamic 6,000-year genetic history of Eurasia’s Eastern Steppe. Jeong, C., Wang, K., Wilkin, S., Taylor, W. T. T., Miller, B., Ulziibayar, S., … & Kradin, N. (2020). bioRxiv

Y Chromosome analysis of prehistoric human populations in the West Liao River Valley, Northeast China. Cui, Y., Li, H., Ning, C. et al., BMC Evol Biol 13, 216 (2013)

Mitochondrial lineage A2ah found in a pre‐Hispanic individual from the Andean region. Russo, M. G., Dejean, C. B., Avena, S. A., Seldes, V., & Ramundo, P. (2018). American Journal of Human Biology, 30(4), e23134.

A Paleogenomic Reconstruction of the Deep Population History of the Andes. Nakatsuka et al, Cell, May 7, 2020

Archaeogenomic evidence reveals prehistoric matrilineal dynasty. Kennett et al, Nature Communications (February 2017)

New Evidence of Ancient Mitochondrial DNA of the Southern Andes (Calchaqui Valleys, Northwest Argentina, 3,600-1,900 Years before Present). Parolin et al, Human Biology, (Fall 2019) Vol 91, No. 4, pages 225-247

Biological kinship in 750 year old human remains from Central Argentina with signs of interpersonal violence. Nores et al, Forensic Science, Medicine and Pathology, September 11, 2020

The Role of Selection in the Evolution of Human Mitochondrial Genomes, Kivisild et al, Genetics January 1, 2006, Volume 172, Issue 1

Please note that submissions styled with the researcher’s surname and no paper date, such as “Chippewa – Perego” are from GenBank submissions and are cited as recorded at GenBank.

Page History

Updated September 26, 2014
Updated December 6, 2014 – Anzick data, please note that I only added extracted information for haplogroups where no academic publication had previously identified the haplogroup as Native
Updated December 7, 2014 – GenBank submissions utilizing Ian Logan’s GenBank by Haplogroup Program and Haplogroup A, A2, A4, B, C, D, M and X projects at Family Tree DNA
Updated January 2, 2015 – added kit numbers to 2014 Anzick extracted data
Updated January 8, 2015 with haplogroups from Dryomov et al, Chatters et al
Updated January 9, 2015 with Anzick extraction, including the number of results for each haplogroup. In the previous Anzick extraction, I only added haplogroups that were not identified previously in academic papers. In this extraction, I included all haplogroup A. B, C, D, M and X that were not excluded based on e-mail communications with kit owners that would exclude their results based on their family genealogy or geography.
Updated April 29, 2015 with results of 2015 Raff study, Estes, Haplogroup A4 Unpeeled study, Raff and Bolnick 2014 and a few private test results
Updated May 20, 2015 with A10 results from Pilipenko 015
Updated June 19, 2015 with Kennewick Man and results from Chatters paper
Updated June 30, 2015 with Fehren-Schmitz paper
Updated July 4, 2015 with Malaspinas paper regarding full genome sequencing of Botocudo
Updated July 12, 2015 haplogroup C1b7 and C1b7a information
Updated November 11, 2015 with Tackney, 2015 and Gomez-Carbala, 2015, information
Updated February 2, 2015, X2a Estes paper and C4c1 American Indian Project
Updated August 30, 2016 Botocudo Remains
Updated September 14, 2016, haplogroup X2b4
Updated January 16, 2017 with Sevini’s haplogroups from Gran Chaco, Argentina
Updated February 25, 2017 with Kennett’s B2y1 haplogroup from Kennett’s paper
Updated February 28, 2017 Monterey, California burials by Breschini and Haversat
Updated March 3, 2017 with de Saint Pierre, 2012
Updated March 3, 2017 to bulletized format
Updated March 3, 2017 with New Native American Mitochondrial DNA Haplogroups by Estes
Updated March 26, 2017 added haplogroup B2r
Updated April 27, 2017 to add Llamas 2016 ancient DNA sequences
Updated April 27, 2017 to add Fagundes (2008), Ingman (2000), Just (2008), Perego (2009), Hartmann (2009), Perego (2010), Bodner (2012), Cardoso (2012), Achilli (2013)
Updated January 9, 2018 to add Gomez-Carballa 2015 Figure 2 C1b clades
Updated February 4, 2018 to add ancient locations from Cui 2008 paper and all references from Tackney 2015 paper
Updated August 5, 2019 to add locations from Brandini 2017 paper
Updated January 2020, added information about B5b2, B5b2a
Updated October 25, 2020, added Cherokee B2o
Updated March and April 2021 with sources and additional haplogroup A and subgroup

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Why DNA Test?

Posted on September 15, 2013 by Roberta Estes

Sometimes I receive a question that just stops me in my tracks. This past week, when a very experienced genealogist ask me “Why do you guys DNA test anyway?,” I was so dumbstruck as to be almost speechless. Well, almost, but not quite, and I recovered quickly.

I did manage to stifle the urge to say “because we can,” but there would have been some truth in that statement.

For me, DNA testing is just a fact of life, ingrained into every molecule of my being, so I had to think a bit before answering.

Why do we do this anyway???

Because we can! Ok, I just had to say it, to get it out of my system. But in reality, it’s true, because you don’t know what you don’t know. And it’s low hanging fruit. For between $49 and $99, at Family Tree DNA you can take a multitude of tests, but primarily Y DNA, mitochondrial DNA and autosomal. And with that, you can find out what it is that you don’t know. The story of “Finding Anne Marie” is the perfect example. In fact, it has been turned into a book.
We test to discover if we are related paternally (Y-DNA) to others of the same or similar surnames. This also means that we can eliminate researching any lines that you don’t match. So we do it so we can stop barking up the wrong tree, and hopefully, bark up the right one. This article about Triangulation for Y DNA talks about surname matching. This paternal Y test was one of the first and is still probably the primary DNA genealogy test done today.
We can test relationship theories. For example, let’s say that we don’t know who the father of our ancestor is, but there are 4 male candidates, all brothers, in the county at the time our ancestor was born. Certainly, being rabid genealogists, we’ve already done the genealogy work, like check tax records, census schedules, church records and anything local, but now we need big guns because those resources didn’t reveal parentage. This story about the Perez family in Guam and in Hawaii illustrates this beautifully and uses both Y DNA in combination with autosomal. In the case of the 4 brothers above, we can search for their wives surnames in our matches and see if we can identify which couple by using the wive’s lines’ DNA.
We test to find out about our ancient ancestry. What “clan” or haplogroup did we come from? There are a number of tests we can take to discover if we are Native American, for example, or African. Some tests, like the autosomal tests, look back only a few generations, so they are broad, not deep, and some, like the Y and mitochondrial tests are very deep, going back hundreds of generations, but not broad at all, focusing like a laser beam on only that one specific direct line. This article about “Proving Native American Ancestry Using DNA” tells about the various kinds of tests and how they can help with genealogy.
We test to create a DNA pedigree chart that parallels and integrates with our genealogy pedigree chart. Every ancestor and their DNA has an ancient story to tell that would be silenced without DNA. In essence, we recover ancestry otherwise lost to us. How else would you ever find out that you descend from Vikings or Niall of the 9 Hostages?
We test to better understand our genesis. For example, we want to map our chromosomes to know which one came from which ancestor. Ok, maybe number 6 only applies to geeky genealogists – but there appear to be a lot of us out there. Kitty Cooper’s new mapping tool is quite popular.
We test to find our family. Just today, I “met” a cousin I match autosomally and we discovered that we have some of the same “coureur du bois” stories in our Acadian families. The difference is that she knew what they were, and I didn’t. Click – that’s the sound of a puzzle piece falling into place.
Some people test to prove paternity, or find biological parents or siblings. Over the past couple of years, several great adoption tools and groups have been formed as we’ve learned to work more effectively with autosomal DNA.
We test because it’s fun. It adds another dimension and several more tools to the addiction we love, genealogy.
Some test to discover more about their health traits. For some, this health information is just a side benefit, but you never know when that health information will have a profound influence on your life.
Some people want to participate in scientific research. This is probably not a primary reason to test, but it does motivate a lot of people and this is one field where an individual can still actively participate and make a difference, sometimes a huge difference.
Some people, like Lenny Trujillo, want to leave a legacy and what a legacy he has left. This is one of the most common reasons people order the Personalized DNA Reports. In some cases, their DNA line ends with them, but in others, it’s a way of leaving information for future generations. Many people have these reports bound and give them as family-wide gifts.
We test because we want to find the location in Europe, or wherever “the old country” is for our family, that our immigrant ancestors came from. The Speaks family is a great example. The American group had tested and confirmed the DNA of the original immigrant, but we didn’t know where the Speaks family came from, although we believed they immigrated from England. Another Speaks family member, from Australia, tested, and matched the American group. The difference was that our Australian cousin knew exactly where his English ancestor was from. Through DNA testing, we found the home of our Speaks family in Gisburn, Lancashire, England. You can read about it in “The Speak Family – 3 Continents and a Dash of Luck.”
We want to prove or disprove our oral history. In many cases, that history includes some type of minority admixture. By minority, I mean not our primary ethnicity. In the series, “The Autosomal Me,” I described in agonizing detail how to use tiny bits of DNA to do just that, and to identify which family lines contributed that minority admixture. In my case, both Native and African. Native had always been a part of our family’s oral history, but the African was initially a surprise.
We test because we’re curious about where we came from, who we are related to, what they know about our ancestors that we might not. As I’ve said before, “It’s About the Journey.” Inquiring minds want to know…..

And it all starts with a DNA test!

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Yearly Archives: 2013

Correlating Historical Facts to DNA Test Results

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Lovin’ My Cousins

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Mitochondrial DNA Convergence and Matches

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DNA Testing for Genealogy 101

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23andMe Patents Technology for Designer Babies

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Ethnicity Results – True or Not?

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Why Don’t I Match My Cousin?

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Daughtered Out – Holding the Torch

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Native American Mitochondrial Haplogroups

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Why DNA Test?

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