Native American Maternal Haplogroup A2a and B2a Dispersion

Recently, in, they published a good overview of a couple of recently written genetic papers dealing with Native American ancestry.  I particularly like this overview, because it’s written in plain English for the non-scientific reader.

In a nutshell, there has been ongoing debate that has been unresolved surrounding whether or not there was one or more migrations into the Americas.  These papers use these terms a little differently.  They not only talk about entry into the Americas but also dispersion within the Americans, which really is a secondary topic and happened, obviously, after the initial entry event(s).

The primary graphic in this article, show below, from the PNAS article, shows the distribution within the Americas of Native American haplogroups A2a and B2a.

a2a, b2a

Schematic phylogeny of complete mtDNA sequences belonging to haplogroups A2a and B2a. A maximum-likelihood (ML) time scale is shown. (Inset) A list of exact age values for each clade. Credit: Copyright © PNAS, doi:10.1073/pnas.0905753107

As you can see, the locations of these haplogroups are quite different and the various distribution models set forth in the papers account for this difference in geography.

One of the aspects of this paper, and the two academic papers on which it is based, that I find particularly encouraging is that the researchers are utilizing full sequence mitochondrial DNA, not just the HVR1 or HVR1+HVR2 regions which has all too often been done in the past.  In all fairness, until rather recently, the expense of running the full sequence was quite high and there were few (if any) other results in the academic data bases to compare the results with.  Now, the cost is quite reasonable, thanks in part to genetic genealogy and new technologies, and so the academic testing standards are changing.  If you’ll note, Alessandro Achilli, one of the authors of these papers and others about Native Americans as well, also comments towards the end that full genome testing will be being utilized soon.  I look forward to this new era of research, not only for Native Americans but for all of us searching for our roots.

Read the paper at:

The original academic papers are found here and here.  I encourage anyone with a serious interest in this topic to read these as well.



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Ancestor of Native Americans in Asia was 30% “Western Eurasian”

The complete genome has recently been sequenced from 4 year old Russian boy who died 24,000 years ago near Lake Baikal in a location called Mal’ta, the area in Asia believed to be the origin of the Native Americans based on Y DNA and mitochondrial chromosome similarities.  The map below, from Science News, shows the location.

malta boy map

This represents the oldest complete genome ever sequenced, except for the Neanderthal (38,000 years old) and Denisovan (41,000 years old).

This child’s genome shows that he is related closely to Native Americans, and, surprisingly, to western Asians/eastern Europeans, but not to eastern Asians, to whom Native Americans are closely related.  This implies that this child was a member of part of a “tribe” that had not yet merged or intermarried with the Eastern Asians (Japan, China, etc.) that then became the original Native Americans who migrated across the Beringian land bridge between about 15,000 and 20,000 years ago.

One of the most surprising results is that about 30% of this child’s genome is Eurasian, meaning from Europe and western Asia, including his Y haplogroup which was R and his mitochondrial haplogroup which was U, both today considered European.

This does not imply that R and U are Native American haplogroups or that they are found among Native American tribes before European admixture in the past several hundred years.  There is still absolutely no evidence in the Americas, in burials, for any haplogroups other than subgroups of Q and C for males and A, B, C, D, X and M (1 instance) for females.  However, that doesn’t mean that additional evidence won’t be found in the future.

While this is certainly new information, it’s not unprecedented.  Last year, in the journal Genetics, an article titled “Ancient Admixture in Human History” reported something similar, albeit gene flow in a different direction.  This paper indicated gene flow from the Lake Baikal area to Europe.  It certainly could have been bidirectional, and this new paper certainly suggests that it was.

So in essence, maybe there is a little bit of Native American in Europeans and a little bit of European in Native Americans that occurred in their deep ancestry, not in the past 500-1000 years.

What’s next?  Work continues.  The team is now attempting to sequence genomes from other skeletons from west of Mal’ta, East Asia and from the Americas as well.

You can read the article in Science Magazine.  An academic article presenting their findings in detail will be published shortly in Nature.

A Podcast with Michael Balter can be heard here discussing the recent discovery.



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Human Genetics Revolution Tells Us That Men and Women Are Not the Same

Stop laughing.  I know, my initial reaction too was, “really – it took genetics to tell us that?”  But this is serious….really.

Males are 99.9% the same when compared to other males, and females are as well when compared to other females, but males and females are only 98.5% equal to each other – outside of the X and Y chromosomes.  The genetic difference between men and women is 15 times greater than between two men or two women.  In fact, it’s equal to that of men and male chimpanzees.  So men really are from….never mind.  It’s OK to laugh now…

men-women 1

We’ve been taught that other than X and Y, males and females are genetically exactly the same.  They aren’t.

men-women 2

Does this matter?  Dr. David Page, Director of the Whitehead Institute and MacArthur Genius Grant winner, says it absolutely does.  He has discovered that both the X and Y chromosomes function throughout the entire body, not just within the reproductive tract.

In his words, “Humane Genome, we have a problem.”  Medicine and research fails to take into account this most fundamental difference.  We aren’t unisex, and our bodies know this – every cell knows it at the molecular level, according to Dr. Page.

For example, some non-reproductive tract diseases appear in vastly different percentages in men and women.  Autism is found in 5 times as many males as females, Lupus in 6 times as many women as men and Rheumatoid Arthritis in 5 times as many women as men.  In other diseases, men and women either react differently to disease treatment, react differently to the disease itself, or both.  Dr. Page explains more and suggests a way forward in this short but very informative video.

About Dr. David Page:

David Page, Director of the Whitehead Institute and professor of biology at MIT, has shaped modern genomics and mapped the Y chromosome.  His renowned studies of the sex chromosomes have shaped modern understandings of reproductive health, fertility and sex disorders.



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Why Are My Predicted Cousin Relationships Wrong?

The answer is, because inherited DNA segments do not always follow the 50% rule.  I guess maybe no one told them???

Many times, when we receive our autosomal DNA results, we wonder why predicted relationships, particularly distant ones, aren’t accurate.  Sometimes people estimated to be 3rd cousins, or maybe 2nd to 4th cousins, turn out to be 6th cousins, for example.  This happens because genetic predictions must use math models and averages, but our actual DNA doesn’t follow those rules.

Dr. Steve Mount is an Associate Professor of Cell Biology and Molecular Genetics at the University of Maryland.  In February 2011, he wrote an article about his experience submitting his DNA to 23andMe and his experiences matching his cousins.  More specifically, he became interested in one particular segment of DNA trackable to a specific ancestor.

He shares these insights.

  • Distant relatives (4th cousins and beyond) often share no genetic material at all.
  • It is possible to share a segment with very distant relatives.
  • Sometimes, more distant relationships are more likely.
  • Most of your relatives may be descended from a small fraction of your ancestors.

In genetic genealogy, people who deal with autosomal DNA spend a lot of time trying to figure out which segments are IBD vs IBS – Identical by Descent versus Identical by State.  In laymen’s terms, identical by descent means that you do in fact share a common ancestor in a timeframe in which you might be able to identify them.  Identical by state really implies, technically, that you just happen to have the same DNA due to spontaneous mutations, not because you share a common ancestor.  In reality, it’s taken to mean that you descend from a common population –  in other words, you do share a common ancestor but the segment is so small that it implies that the ancestor is so far back in time that you can’t possibly identify them.  Some people call these matches “false positives” which really isn’t accurate.

Far from being useless, these small segments are very useful in identifying different ethnic populations found in your ancestral tree and can, often in conjunction with larger segments also be useful in identifying ancestral lines.  Discounting small segments, especially if you share a common ancestor, is akin to throwing away pennies because they aren’t as useful and are more difficult to manage than quarters or dollars.  Furthermore, small segments may be our only way of identifying ancestors that are many generations back in our tree.  After all, we inherited all of our DNA from some ancestor, no matter how small the segments are today.

Because we have no better rule of thumb (or statistical model), we utilize the theory that one inherits about 50% of the DNA of each ancestor in each generation.  We know this is absolutely true between Mom and Dad, but you don’t receive exactly 25% of each of your grandparents’ DNA.  However, the mixture of what and how much of your grandparents’ DNA you do inherit is approximately 25% and appears to be random, like a card shuffle.  If it’s not random, we don’t know what the rules of inheritance are.

In the past few years, as we’ve come to work more closely with autosomal results, we have learned that while the rules of thumb about how much DNA you inherit from specific ancestors are useful, they are not absolute.  In other words, it’s certainly possible to inherit a very large chunk of DNA from a very specific distant ancestor when the rules of probability and the rule of thumb of 50% would indicate that you should not.

This is shown clearly in the Vannoy project where 5 cousins who descend from Elijah Vannoy born in 1786 (5 generations removed) share a very significant portion of chromosome 15.  These people are all 5 generations or more distantly related from the common ancestor, (approximate 4th cousins) and should share less than 1% of their DNA in total, and certainly no large, unbroken segments.   As you can see, below, that’s not the case.  We don’t know why or how some DNA clumps together like this and is transmitted in complete (or nearly complete) segments, but they obviously are.  We often call these “sticky segments” for lack of a better term.

cousin 1

I downloaded this information into a spreadsheet where I can sort it by chromosome.  Below you can see the segments on chromosome 15 where these cousins match me.  Note that Buster is also a cousin from a second ancestor.

cousin 2

Given these incidental discoveries and the very large amount of DNA I share with these cousins on chromosome 15, I was quite interested in Dr. Mount’s following commentary:

“The probability that fourth cousins share at least one IBD [identical by descent] segment is 77%, and the expected length of this segment is 10 cM.” Now consider the next step. There is a 50% chance that that one shared segment will not be transmitted at all, but a 90% chance that if it is transmitted it will be just as big as it was (the same 10 cM.). What this means for genealogy on 23andMe is that for two people sharing one segment identical by descent there is no way to reliably estimate how far back the common ancestor was. Furthermore, no improvement in software can possibly change that, because the limitation is imposed by the genetics itself.”

Well, there goes the 50% rule – flying right out the window.  The 50% rule of thumb says that in any given transmission, there is a 50% chance that it will be transmitted (so good so far) and that if it is transmitted, roughly half of it would be transmitted, or approximately 5 cM..  That’s obviously not what is happening.

Dr. Mount goes on to say that, “No matter how far back you go, every nucleotide of one’s genome is derived from some ancestor, and even going back 20 generations, the chance that the bit which has been inherited is part of a block 5 cM. or greater is still appreciable. In fact, even for 19th cousins, there is a real chance (13%) that any segment of DNA they have inherited in common will be 5 cM. or greater. Of course, as mentioned above, there is very little chance that two 19th cousins will share any IBD segments at all, but this is offset if one has many 19th cousins, which is often the case.”

5cM is the line-in-the-sand cutoff number many genetic genealogists use to determine whether DNA segments are IBD or IBS.

What this really means is that the more distant, or 19th, cousins that you have, the greater the chance that one or more of them will test and will indeed share a piece of DNA large enough to be identified by the testing companies as relevant.  The software companies will then apply their relationship estimating software to the size of the match and number of SNPs.  The results are often inaccurate, as Dr. Mount says.  Not inaccurate in that the match is incorrect, but the estimated relationship is incorrect because the DNA did not divide in half as the mathematical model says it should.  The “problem” is not in the software, but in the DNA itself.

“23andMe reports a “predicted relationship” (e.g. “4th cousin”) and a “relationship range” (e.g. “3rd to 7th cousin”). However, these ranges are likely to be wildly inaccurate, because the likely distance to a common ancestor, given only the information that two people share a single IBD segment, can vary enormously, based largely on how many relatives one has.”

And I will add, it will also vary by how and how much the DNA has or has not divided in every generation.

Dr. Mount goes on to provide the math and probability formulas for these various calculations, and explains what they mean, in English, then he summarizes by saying, “

“Thus, if you have many more distant cousins, as would be expected if your ancestors had large families, then someone who shares a single IBD segment is more likely to be a distant cousin, because you have so many more distant cousins. The point where the increase in the number of cousins outweighs the loss of shared segments is five children per family. This is not extremely uncommon.”

This actually makes a lot of sense when I look at my results.  One of my ancestors, Abraham Estes (1647-1720) had at least 12 children of which 11 reproduced and had very large families.  This line was extremely prolific.  Many of my autosomal matches include Estes descendants.  Some of my other lines where my ancestor was one of just a few children have far fewer matches, likely because there are far fewer people out there descended from them.

Dr. Mount confirms this by saying that, “If one family among [your] 32 [great-great-great-grandparents] had five children and their descendants did as well, while others in the family reproduced at replacement rates (two children per family), then your more prolific ancestors (the parents of just one of your 31 great-great-grandparents) would account for over 3/4 of your fourth cousins.”

So what is the take away message to us from all of this?

  • The autosomal testing companies are doing the best they can predicting your cousin-level relationships with what they have to work with.
  • Real life genetic transmission does not follow the 50% rule of thumb beyond the first generation (parent-child).
  • The predictions get more uncertain and therefore unreliable the more distant they are.
  • Based on the unmeasureable randomness of the genetic transmission involved, there is no way for the testing companies to improve their predictions.
  • Expect more matches to your more prolific lines, and less to lines who had fewer children.
  • Beyond about the first or second cousin level, understand that predictions are only suggestions based on math.  Given that you understand why and how reality can vary, you can then utilize this information when analyzing your matches.
  • Drawing an arbitrary cM line for IBS vs IBD and utilizing only the segments above that threshold may eliminate the small segments you need to identify ancestors many generations removed.
  • Endogamous populations throw a monkey wrench into estimates and calculations, because population members are likely related many times over in unknown ways.  This makes the estimate of relatedness of two people appear closer than it is genealogically.  At least one of the testing companies, Family Tree DNA, attempts to correct for this mathematically when they are aware of the situation, such as in Jewish families.

You can read Dr. Mount’s article including his mathematical proofs, here.



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Determining Ethnicity Percentages

Recently, as a comment to one of my blog postings, someone asked how the testing companies can reach so far back in time and tell you about your ancestors.  Great question.

The tests that reliably reach the furthest back, of course, are the direct line Y-Line and mitochondrial DNA tests, but the commenter was really asking about the ethnicity predictions.  Those tests are known as BGA, or biogeographical ancestry tests, but most people just think of them or refer to them as the ethnicity tests.

Currently, Family Tree DNA, 23andMe and all provide this function as a part of their autosomal product along with the Genographic 2.0 test.  In addition, third party tools available at don’t provide testing, but allow you to expand what you can learn with their admixture tools if you upload your raw data files to their site.  I wrote about how to use these ethnicity tools in “The Autosomal Me” series.  I’ve also written about how accurate ethnicity predictions from testing companies are, or aren’t, here, here and here.

But today, I’d like to just briefly review the 3 steps in ethnicity prediction, and how those steps are accomplished.  It’s simple, really, in concept, but like everything else, the devil is in the details.devil

There are three fundamental steps.

  • Creation of the underlying population data base.
  • Individual DNA extraction.
  • Comparison to the underlying population data base.

Step 1:  Creation of the underlying population data base.

Don’t we wish this was as simple as it sounds.  It isn’t.  In fact, this step is the underpinnings of the accuracy of the ethnicity predictions.  The old GIGO (garbage in, garbage out) concept applies here.

How do researchers today obtain samples of what ancestral populations looked like, genetically?  Of course, the evident answer is through burials, but burials are not only few and far between, the DNA often does not amplify, or isn’t obtainable at all, and when it is, we really don’t have any way to know if we have a representative sample of the indigenous population (at that point in time) or a group of travelers passing through.  So, by and large, with few exceptions, ancient DNA isn’t a readily available option.

The second way to obtain this type of information is to sample current populations, preferably ones in isolated regions, not prone to in-movement, like small villages in mountain valleys, for example, that have been stable “forever.”  This is the approach the National Geographic Society takes and a good part of what the Genograpic Geno 2.0 project funding does.  Indigenous populations are in most cases our most reliable link to the past.  These resources, combined with what we know about population movement and history are very telling.  In fact, National Geographic included over 75,000 AIMs (Ancestrally Informative Markers) on the Geno 2.0 chip when it was released.

The third way to obtain this type of information is by inference.  Both and 23andMe do some of this.  Ancestry released its V2 ethnicity updates this week, and as a part of that update, they included a white paper available to DNA participants.  In that paper, Ancestry discusses their process for utilizing contributed pedigree charts and states that, aside from immigrant locations, such as the United States and Canada, a common location for 4 grandparents is sufficient information to include that individuals DNA as “native” to that location.  Ancestry used 3000 samples in their new ethnicity predictions to cover 26 geographic locations.  That’s only 115 samples, on average, per location to represent all of that population.  That’s pretty slim pickins.  Their most highly represented area is Eastern Europe with 432 samples and the least represented is Mali with 16.  The regions they cover are shown below.

ancestry v2 8

Survey Monkey, a widely utilized web survey company, in their FAQ about Survey Size For Accuracy provides guidelines for obtaining a representative sample.  Take a look.  No matter which calculations you use relative to acceptable Margin of Error and Confidence Level, Ancestry’s sample size is extremely light.

23andMe states in their FAQ that their ethnicity prediction, called Ancestry Composition covers 22 reference populations and that they utilize public reference datasets in addition to their clients’ with known ancestry.

23andMe asks geographic ancestry questions of their customers in the “where are you from” survey, then incorporates the results of individuals with all 4 grandparents from a particular country.  One of the ways they utilize this data is to show you where on your chromosomes you match people whose 4 grandparents are from the same country.  In their tutorial, they do caution that just because a grandparent was born in a particular location doesn’t necessarily mean that they were originally from that location.  This is particularly true in the past few generations, since the industrial revolution.  However, it may still be a useful tool, when taken with the requisite grain of salt.

23andme 4 grandparents

The third way of creating the underlying population data base is to utilize academically published information or information otherwise available.  For example, the Human Genome Diversity Project (HGDP) information which represents 1050 individuals from 52 world populations is available for scrutiny.  Ancestry, in their paper, states that they utilized the HGDP data in addition to their own customer database as well as the Sorenson data, which they recently purchased.

Academically published articles are available as well.  Family Tree DNA utilizes 52 different populations in their reference data base.  They utilize published academic papers and the specific list is provided in their FAQ.

As you can see, there are different approaches and tools.  Depending on which of these tools are utilized, the underlying data base may look dramatically different, and the information held in the underlying data base will assuredly affect the results.

Step 2:  Your Individual DNA Extraction

This is actually the easy part – where you send your swab or spit off to the lab and have it processed.  All three of the main players utilize chip technology today.  For example, 23andMe focuses on and therefore utilizes medical SNPs, where Family Tree DNA actively avoids anything that reports medical information, and does not utilize those SNPs.

In Ancestry’s white paper, they provide an excellent graphic of how, at the molecular level, your DNA begins to provide information about the geographic location of your ancestors.  At each DNA location, or address, you have two alleles, one from each parent.  These alleles can have one of 4 values, or nucleotides, at each location, represented by the abbreviations T, A, C and G, short for Thymine, Adenine, Cytosine and Guanine.  Based on their values, and how frequently those values are found in comparison populations, we begin to fine correlations in geography, which takes us to the next step.

ancestry allele snps

Step 3:  Comparison to Underlying Population Data Base

Now that we have the two individual components in our recipe for ethnicity, a population reference set and your DNA results, we need to combine them.

After DNA extraction, your individual results are compared to the underlying data base.  Of course, the accuracy will depend on the quality, diversity, coverage and quantity of the underlying data base, and it will also depend on how many markers are being utilized or compared.

For example, Family Tree DNA utilizes about 295,000 out of 710,000 autosomal SNPs tested for ethnicity prediction.  Ancestry’s V1 product utilized about 30,000, but that has increased now to about 300,000 in the 2.0 version.

When comparing your alleles to the underlying data set one by one, patterns emerge, and it’s the patterns that are important.  To begin with, T, A, C and G are not absent entirely in any population, so looking at the results, it then becomes a statistics game.  This means that, as Ancestry’s graphic, above, shows, it becomes a matter of relativity (pardon the pun), and a matter of percentages.

For example, if the A allele above is shown is high frequencies in Eastern Europe, but in lower frequencies elsewhere, that’s good data, but may not by itself be relevant.  However if an entire segment of locations, like a street of DNA addresses, are found in high percentages in Eastern Europe, then that begins to be a pattern.  If you have several streets in the city of You that are from Eastern Europe, then that suggests strongly that some of your ancestors were from that region.

To show this in more detailed format, I’m shifting to the third party tool, GedMatch and one of their admixture tools.  I utilized this when writing the series, “The Autosomal Me” and in Part 2, “The Ancestor’s Speak,” I showed this example segment of DNA.

On the graph below, which is my chromosome painting of one a small part of one of my chromosomes on the top, and my mother’s showing the exact same segment on the bottom, the various types of ethnicity are colored, or painted.

The grid shows location, or address, 120 on the chromosome and each tick mark is another number, so 121, 122, etc.   It’s numbered so we can keep track of where we are on the chromosome.

You can readily see that both of us have a primary ethnicity of North European, shown by the teal.  This means that for this entire segment, the results are that our alleles are found in the highest frequencies in that region.

Gedmatch me mom

However, notice the South Asian, East Asian, Caucus, and North Amerindian. The important part to notice here, other than I didn’t inherit much of that segment at 123-127 from her, except for a small part of East Asian, is that these minority ethnicities tend to nest together.  Of course, this makes sense if you think about it.  Native Americans would carry Asian DNA, because that is where their ancestors lived.  By the same token, so would Germans and Polish people, given the history of invasion by the Mongols. Well, now, that’s kind of a monkey-wrench isn’t it???

This illustrates why the results may sometimes be confusing as well as how difficult it is to “identify” an ethnicity.  Furthermore, small segments such as this are often “not reported” by the testing companies because they fall under the “noise” threshold of between about 5 and 7cM, depending on the company, unless there are a lot of them and together they add up to be substantial.

In Summary

In an ideal world, we would have one resource that combines all of these tools.  Of course, these companies are “for profit,” except for National Geographic, and they are not going to be sharing their resources anytime soon.

I think it’s clear that the underlying data bases need to be expanded substantially.  The reliability of utilizing contributed pedigrees as representative of a population indigenous to an area is also questionable, especially pedigrees that only reach back two generations.

All of these tools are still in their infancy.  Both Ancestry and Family Tree DNA’s ethnicity tools are labeled as Beta.  There is useful information to be gleaned, but don’t take the results too seriously.  Look at them more as establishing a pattern.  If you want to take a deeper dive by utilizing your raw data and downloading it to GedMatch, you can certainly do so. The Autosomal Me series shows you how.

Just keep in mind that with ethnicity predictions, with all of the vendors, as is particularly evident when comparing results from multiple vendors, “your mileage may vary.”  Now you know why!



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Correlating Historical Facts to DNA Test Results

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.

1880 census
1880 census 2

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

lovin hands

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.

lovin mary

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.

lovin daryl

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.

lovin los and denise

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

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.

mtdna convergence chart

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.

mtdna convergence

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

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 8th 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 23rd 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).

yline mtdna

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.

accumulated genetic difference

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.

y results

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.

y matches

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.

estes gridTo 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 and entering the surname in the search box on the right hand side of the page where it says “Search Your Last Name.”

ftdna header

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.

projects page

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.

DNA Pedigree

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.

ff matches

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!

who can test

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 togetherFamily 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.

swab kit

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

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 ReportsFamily 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

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.  scratching head

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 28th 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  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  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.

23andme settings

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?



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