Why DNA Test?

puzzle pieces

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???

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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?
  6. 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.
  7. 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.
  8. 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.
  9. We test because it’s fun.  It adds another dimension and several more tools to the addiction we love, genealogy.
  10. 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.
  11. 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.
  12. 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.
  13. 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.”
  14. 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.
  15. 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…..

Now, aren’t you sorry you asked???

Mexican Women’s Mitochondrial DNA Primarily Native American

Amy Tilden

 Mitatwe’eptes (aka Amy Tilden) – Nez Perce – circa 1910

In the paper, “Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins,” Kumar et al provide a piece of information I find extremely interesting.

“For mtDNA variation, some studies have measured Native American, European and African contributions to Mexican and Mexican American populations, revealing 85 to 90% of mtDNA lineages are of Native American origin, with the remainder having European (5-7%) or African ancestry (3-5%). Thus the observed frequency of Native American mtDNA in Mexican/Mexican Americans is higher than was expected on the basis of autosomal estimates of Native American admixture for these populations i.e. ~ 30-46%. The difference is indicative of directional mating involving preferentially immigrant men and Native American women. This type of genetic asymmetry has been observed in other populations, including Brazilian individuals of African ancestry, as the analysis of sex specific and autosomal markers has revealed evidence for substantial European admixture that was mediated mostly through men. In our 384 completely sequenced Mexican American mitochondrial genomes, 12 (3.1%) are of African ancestry belonging to haplogroups L0a1a’3’, L2a1, L3b, L3d and U6a7; 52 (13.6%) belong to European haplogroups HV, JT, U1, U4, U5; and K and the majority (320, 83.3%) are of Native American ancestry.”

British Royal DNA

In an article recently published, Bradley Larkin has done an excellent job of sorting through the various DNA results from different companies and locations and assembling them together for a paper on British Royal DNA titled Y-DNA of the British Monarchy, A Review on the occasion of the birth of the Prince of Cambridge.

Paper Abstract

A review was made of existing genetic genealogy findings that infer characteristics of the Y-DNA of members of the British Monarchy. Nine sustained Y-DNA lineages since the year 927 CE were noted as dynastic groups. Haplogroup and haplotype characteristics of three of the dynasties were presented with two more dynasties noted as testable but unpublished. Cultural and geographical origins of these dynasties were considered as context for their DNA haplogroups. Specimen candidates for further testing were identified noting that some will require Ancient DNA (aDNA) recovery and analysis.

dynasties

Brad covers 8 major dynasties dating from 1603-2013, the Mountbatten, Hanover, Windsor and Stuart.

dynasties 2

After discussing each dynasty, Brad ends his article with a summary table of the dynasties, monarchs from that dynasty, the Patriarch, origin and known DNA.  It’s a great paper and an interesting read.  Take a look.  Who knows, this just might be relevant to you!  Good job Brad!!!

Black, White or Red – Changing Colors

henry finding your roots

The Root recently published the article, “Did My White Ancestor Become Black?”, written by Henry Louis Gates Jr. and Eileen Pironti.  We all know who Henry is from his PBS Series, Finding Your Roots.

America is the great mixing bowl of the world, with Native American, European and African people living in very close proximity for the past 400 years.  Needless to say, on the subject of admixture and race, things are not always what they seem.

Henry Gates sums it up quite well in his article, regardless of what your ancestor looked like, or your family looks like today, “the only way to ascertain the ethnic mixture of your own ancestry is to take an admixture test from Family Tree DNA, 23andMe or Ancestry.com.”

Interestingly enough, in an earlier issue of The Root, Henry talks about how black are Black Americans.

In that article, Henry provides this information.

* According to Ancestry.com, the average African American is 65 percent sub-Saharan African, 29 percent European and 2 percent Native American.

* According to 23andme.com, the average African American is 75 percent sub-Saharan African, 22 percent European and only 0.6 percent Native American.

* According to Family Tree DNA.com, the average African American is 72.95 percent sub-Saharan African, 22.83 percent European and 1.7 percent Native American.

* According to National Geographic’s Genographic Project, the average African American is 80 percent sub-Saharan African, 19 percent European and 1 percent Native American.

The message is, of course, that you never know.  Jack Goins, Hawkins County, Tennessee archivist,  is the perfect example.  Jack is the patriarch of Melungeon research.  His Goins family was Melungeon, from Hawkins County, Tennessee.  Jack founded the Melungeon DNA projects several years ago which resulted in a paper, co-authored by Jack (along with me, Janet Lewis Crain and Penny Ferguson), cited by Henry Louis Gates in his above article along with an associated NPR interview, titled “Melungeons, A Multiethnic Population.”

jack goins melungeon

Jack, shown above with the photo of his Melungeon ancestors, looks white today.  His family claimed both Portuguese and Indian heritage.  His ancestors and family members in the 1840s were prosecuted for voting, given that they were “people of color.”

But Jack’s Y DNA, providing us with his paternal link to his Goins male lineage, is African.  No one was more shocked at this information than Jack.  Jack’s autosomal DNA testing confirms his African heritage, along with lots of European and a smidgen of Native in some tests.

When in doubt, test your DNA and that of selected relatives to document your various lines, creating your own DNA pedigree chart.  For a broad spectrum picture of your DNA and ethnicity across of all of your heritage, autosomal DNA testing is the way to go.  Without all of these tools, neither Jack nor Henry would ever have known their own personal truth.

UpFront with NGS Series on DNA Basics – Testing for Genealogy 101

DNA Books Helix

I was very pleased when the National Genealogical Society asked me to write an article for them, and when the article turned into a series.  One thing long missing in genetic genealogy has been a “basics” article focused on the person who hasn’t heard of DNA testing.  This is for the person you’d like to convince to test and need to explain why, and how.  You know, Uncle Tom at Thanksgiving.  Start buttering him up now.

This type of article needed to be long enough to explain DNA testing, how it works and the differences between the various tests for genealogists, and not so long as to cure insomnia.

Today, part 1 of “DNA Testing for Genealogy 101 – What Can It Do For You?” was published on their blog, Up Front with NGS.  They have a great blog by the way, so if you don’t subscribe, now would be a good time because you’ll get parts 2, 3 and 4 of the series sent to you automatically.

I hope you’ll join us today for part 1 of “DNA Testing for Genealogy 101 – What Can It Do For You?” and for the next 3 days for parts 2 through 4.  And watch out Uncle Tom:)

Autosomal DNA, Ancient Ancestors, Ethnicity and the Dandelion

 dandelion 1

Understanding our own ancient DNA is a little different than contemporary DNA that we use for genealogy, but it’s a continuum between the two with a very long umbilical cord between them, then, and now.  And just when you think you’re about to understand autosomal DNA transmission and how it works, the subject of ancient DNA comes up.  This is particularly perplexing when all you wanted in the first place was a simple answer to the question, “who am I and who were my ancestors?”  Well, as you’re probably figured out by now, there is no simple answer.

Inheritance

In a nutshell – we know that every generation gets divided by 50% when we’re talking about autosomal DNA transmission.

So you inherit 50% of the DNA of each of your parents.  They inherited 50% of the DNA of each of their parents, so you inherit ABOUT 25% of the DNA of each of your grandparents.

Did you see that word, about?  It’s important, because while you do inherit exactly 50% of the DNA of each parent, you don’t inherit exactly 25% of the DNA of each grandparent.  You can inherit a little less or a little more from either grandparent as your parents 50% that you’re going to receive is in the mixer.

This is also true for the 12.5% of each of your great-grandparents, and the 6.25% of each of your great-great-grandparents, and so forth, on up the line.

The chart below shows the percentages that you share from each generation.

Relationship to You Approximate % Of Their DNA You Share
Parents Exactly 50%
Grandparents 25
Great-grandparents 12.5
Great-great-grandparents 6.25
Great-great-great-grandparents 3.125
Great-great-great-great-grandparents 1.5625

Ethnicity

So, here’s the question posed by people trying to understand their ethnicity.

If I have 3% Melanesian (or Middle Eastern, Indo-Tibetan or fill-in-the-blank ethnicity), doesn’t that mean that one of my great-great-great-grandparents was Melanesian?

There are really two answers to this question.  (I can hear you groaning!!!)

If the amount is 25% (for example) and not very small amounts, then the answer would be yes, that is very likely what this is telling you.  Or maybe it’s telling you that you have two different great-grandparents who have 12.5 each – but those relatives are fairly close in time due to the amount of DNA that came from that region.  See, that was easy.

However, the answer changes when we’re down in the very small percentages, below 5%, often in the 1 and 2% range.  This answer isn’t nearly as straightforward.

The Dandelion – Your Ancestor

The answer is the dandelion.

dandelion 2

The dandelion is one of your ancestors who lived in the Middle East, let’s say, 20,000 years ago, maybe 30,000 years ago.  In case you’re counting generations, that is 800 to 1200 generations ago.  The percentage of DNA you would carry from a single ancestor who lived 20,000 years ago, assuming you only descended from that ancestor 1 time, is infinitesimally small.  There are more zeroes following that decimal point than I have patience to type.  Let’s call that ancestor Xenia and let’s say she is a female.

However, you did inherit DNA from many of your ancestors who lived 20,000 years ago, thousands of them, because all of them, through their descendants, make up the DNA you carry today.  So infinitesimally small or not, you do carry some of the DNA of some of those ancestors.  It’s just broken into extremely small pieces today and their individual contributions to you may be extremely small.  You don’t carry any DNA from some of them, actually, probably most of them, due to the recombination event, dividing their DNA in half, happening 800 times, give or take.

Now, given that your ancestors’ DNA is divided in every generation by approximately half, and we know there are about 3 billion base pairs on all of your chromosomes combined, this means that by generation 32 or 33, on average, you carry 1 segment from this ancestor.  By generation 45, you carry, on average, .00017 segments of this ancestor’s DNA.  And for those math aficionados among us, this is the mathematical notation for how much of our ancestor’s DNA we carry after 800 generations: 4.4991E-232.

But, we also know that this dividing in half, on the average, doesn’t always work exactly that way in reality, because some of those ancestors from 20,000 years ago did in fact pass their DNA to you, despite the infinitesimal odds against that happening.  Some of their DNA was passed intact generation after generation, to you, and you carry it today.  The DNA contributed by any one ancestor from 800 generations ago is probably limited to one or two locations, or bases, but still, it’s there, and it’s the combined DNA of those ancient ancestors that make us who we are today.

The autosomal DNA of any specific ancestor from long ago is probably too small and fragmented to recognize as “theirs” and attribute to them.  Of course, the beauty of Y DNA and mitochondrial is that it is passed in tact for all of those generations.  But for autosomal DNA and genealogy, we need hundreds of thousands of DNA pieces in a row from a particular ancestor to be recognizable as “theirs.”  When we measure DNA for genealogy, what we are measuring is both centiMorgans, a measure of distance between chromosome positions (length) and the number of contiguous SNP (Single Nucleotide Polymorphism) base locations that match (quantity).  The values from these calculations tells us how closely we are related to people, because remember, DNA is divided in each generation so there is a mathematically predictable amount we will share with specific relatives.

Here is an example from a Family Finder comparison table showing both centiMorgans and matching SNPs with a second cousin.

family finder table

The matching threshold for genealogical significance is either 5 or 7 cM depending on which of the major companies you are using.  At Family Tree DNA, if you match above the threshold, then you can view down to 1cM, which is the case above.  Another match criteria is the number of SNPs, or locations, matching contiguously.  Anything below about 500-800 is considered to be a population match, not a genealogical match, unless you also have a significant number of genealogical matches at higher cMs and segments with this person.

OK, where is all of this going?

Dispersion

Think of your ancestor 20,000 years ago as the dandelion.  Now, blow.

dandelion 3

Xenia lived in the Middle East.  Where might her descendants land, over time, with every new generation?  In Europe?  In Asia?  In India?  In America via the Native Americans through Asia?  In North Africa?  Where?

So let’s say that groups of descendants settle across the globe.  Let’s say that her mitochondrial haplogroup is X.  Yes, haplogroup X is found both in Europe and in Asia and in the Native Americans, so this is actually a good example.  So Xenia carried mitochondrial haplogroup X and we know for sure via mitochondrial DNA testing that indeed, Xenia’s seeds were scattered to all of the winds.  The only place we haven’t found Xenia’s children is in Subsaharan Africa and the Australian archipelago, at least not yet.

Ok, so now that we know where her children and their children went, let’s go back to ancient DNA.

Predictive DNA

The way ethnicity is determined is by studying the frequency with which a specific allele or group of alleles is found in any particular population.  Two “pure” examples come to mind.

The first example is the Duffy Null allele that is only found in the Subsaharan African populations.  Currently this marker is found in about 68% of American blacks and in 88-100% of African blacks.  If you have the Duffy Null allele, you have African heritage.  Of course, you don’t know which line or which ancestor it came from, or how far back in time, but it assures you that you do in fact have African heritage.  It could have been from an ancestor long ago.  It could have been very recent.  This is one of the factors considered when determining percentage of ethnicity.

A second example is the STR marker known as D9S919 which is present in about 30% of the Native American people.  The value of 9 at this marker is not known to be present in any other ethnic group, so this mutation occurred after the Native people migrated across Beringia into the Americas, but long enough ago to be present in many descendants.  There is also no other known marker that is only found only among Native Americans, although I expect as we move into full genome sequencing we will discover more.  You can test this marker individually at Family Tree DNA, which is the only lab that offers this test.  If you have the value of 9 at this marker, it confirms Native heritage, but if you don’t carry 9, it does NOT disprove Native heritage.  After all, many Native people don’t carry it.  Again, you don’t know how long ago this marker was introduced into your ancestry.

These two examples are very unique because the markers are found only in certain groups.  Generally, with the rest of the DNA values, they are found in different amounts, or frequencies, in different parts of the world and ethnic groups.

So, if you’re trying to determine the ethnicity of an individual, you’re going to compile a huge data base of percentages of DNA values found of Ancestrally Informative Markers (AIMs) in different parts of the world.

So, you would compare the participant’s values against your data base and you will come up with those regions or ethnicities that are present most often in your comparison.  This is exactly what the products and services that provide you with your ethnicity percentages do – and how accurate the results are depend highly on the data base itself, the amount of data, and the quality of data.  Dare I mention Ancestry’s issue that they’ve had since they first began offering their autosomal product over a year ago where everyone seems to have Scandinavian ancestry?  Ancestry doesn’t share with us their sources, so as a community we have no idea how they have come up with these numbers.

You can easily compare your autosomal results in nauseating detail at both 23andMe and Family Tree DNA by testing with both companies, or by testing with either 23andMe or Ancestry and transferring your autosomal results to Family Tree DNA.  All 3 of these companies will give you a somewhat different result, but they should be in the same ballpark.  You can also then download your raw data file from any of those vendors and upload it to www.gedmatch.com where you can then do ethnicity comparisons using a variety of tools.  These tools, an example shown below, will have much more variance and detail than the vendor’s tools or results.  And because of that, they tend to be more confusing as well.

gedmatch example

Many people with small amounts of minority admixture are disappointed with the results through the vendors, especially if their Native American admixture doesn’t show.  I wrote extensively about this in my series, The Autosomal Me, so I won’t rehash it here, but using the GedMatch tools is very enlightening, as you can see above with my results.  And do I really have Indo-Tibetan and Indo-Iranian ancestors?

Where’s Xenia?

Back to Xenia and her descendants.  Let’s say that Xenia’s descendants settled in four primary locations.  One is in the Middle East – they never left home.  One is in Asia and from there, to the Americans to become the Native Americans and lastly, to Europe.  Now let’s say there is a pocket of them in the Altai region of Asia and a pocket in France.  The Altai is the ancestral home of the Native Americans and could explain the Indo-Tibet result, above.  We’ll call that Central Asia.  And France is where my Acadian ancestors were from.  Hmmm….this is getting confusing.  To make matters even more confusing, I might well descend from both groups, who originally descended from Xenia.

Let’s say that I do in fact carry small segments of Xenia’s DNA.  Now let’s say that this same DNA is found in a group of people in Central Asia, maybe in Tibet, it’s published in an obscure journal someplace, and it finds its way into a data base.  Voila – there you go – I now have a match in Central Asia in a place called Indo-Tibet.  But do I really?

Does this mean that my ancestor was from Central Asia?  Not necessarily.  And if so, maybe not recently, but the people from that location for some reason share some of the DNA that I carry.  The question of course is why, how and when?

What this really means to you is a matter of degrees.  If you have a few matches from obscure regions, along with very small percentages, it is likely a result of the dandelion’s dispersion.  If you have a lot of matches, meaning a high percentage hit rate, from a particular region, pay attention, it probably has some genealogical significance.

It’s no wonder people are confused by this!  Now, just think how many dandelions you have.  In 15 generations, you have 32,768 ancestors.  In fact, this is how we know for sure that we all descend from the same ancestor multiple times.  Our number of ancestors quickly exceeds the world population.  In 30 (25 years) generations, in about the year 1263, we reach about 1 billion ancestors.  In 1750, there were 791 million people on Earth, in 1600, 580 million, in 1500, 458 million and in 1000, 310 million.

Ancestors - Years

We know that we very likely descend several times from a much smaller group of ancestors from isolated local populations.  However, just looking at the 32,000+ ancestors in 15 generations, it’s still an entire dandelion field!!!

???????????????????????????????????????????????????????????????????????

Kitty Cooper’s Chromsome Mapping Tool Released

I haven’t had time to try this yet, but I can hardly wait.  Kitty Cooper’s chromosome mapping tool enables those who have taken one of the autosomal tests from Family Tree DNA or 23andMe and downloaded matches to map the segments that you know are associated with certain ancestral lines on your chromosomes with a color key.

The genetic genealogy community has been anxiously waiting for this tool.  You can find it here:  http://kittymunson.com/dna/ChromosomeMapper.php

Until now, we were relegated to keeping this kind of information on a spreadsheet.  I covered how to do this in my blog on Autosomal Triangulation and also in one of the Autosomal Me segments.

vannoy table 1

But thanks to Kitty, we can take the information above and make it look like the example below from Kitty’s blog.

kitty's chromosome mapping

We can’t think you enough Kitty!!!  Way to go!  Woohoo!

Family Tree DNA Levels the Playing Field…Sort Of

Family-Tree-DNA logoToday, I received an e-mail from Max Blankfeld, one of the partners at Family Tree DNA.  He said that per their promise a month ago, if they obtained a minimum volume of orders during their July promotion, they would retain the $99 price on their autosomal DNA test, Family Finder.  Well, the $99 price is now permanent.  What this does is to level the playing field between the three autosomal DNA players, Family Tree DNA, 23andMe and Ancestry…..sort of.  All other things are not equal, even though the price now is.

1. Company - Family Tree DNA

Shipping cost for kits: $5 domestic, $7 international

Where kits are shipped: worldwide

2. Company - 23andMe

Shipping cost for kits: $10 US, $60 Canada and $75-$120 other international

Where kits are shipped: some international, US except NY and MD due to state laws regarding the medical/health aspects of the testing

3. Company - Ancestry.com

Shipping cost for kits:  $10

Where kits are shipped: US only

Caveat:  Ancestry does not have analysis tools that Family Tree DNA and 23andMe include.

Hmmmm….maybe the playing field isn’t so level after all!

Combining Tools – Autosomal Plus Y-DNA, mtDNA and the X Chromosome

Sometimes, there’s nothing worse than a little bit of knowledge to get us into trouble.  If you need proof of that, I can show you a picture of one of my first quilts which has thankfully disappeared someplace and was known semi-affectionately as “The Ugly Quilt.”  I even entered it in an “Ugly Quilt” contest and it wasn’t even good enough, or is that bad enough, to win that!!  Fortunately, things have improved!  I’ve learned a lot.

Combine a little knowledge with people who desperately want answers, and you have a situation ripe for mistakes, misinterpretation and misunderstanding.

That’s what sometimes happens when you combine the results of two different genetic genealogy tools and you don’t really understand their differences, their application to the specific problem at hand, or what the results are really telling you.

I’m talking about combining autosomal testing with haplogroup based testing, both Y-line and mitochondrial DNA.  This comes in two flavors; generic and specific.

Generic Matching – 23andMe

At 23andMe, your match results are displayed in a list along with information which may or may not be relevant to you and your match.  Shown below are my 8 top matches at 23andMe.  I know who these people are – they are my relatives, so there is no question of interpretation here.  Let’s take a look at the information provided.

combining 23andme

I have omitted the name column which is first.  The second column is their relationship to me.  The top row is me.  Everyone has the option to enter geographic (blue tab) and surname information (green tabs,) which I have done.  Not everyone does that as you can see by the information shown for the others.

Note the different haplogroups here.   For mitochondrial (pink tab), you have 7 different haplogroups out of 8.  That’s because these people, other than my son and I, don’t share a common maternal line.  If they did share a haplogroup, it would be coincidence, or very far back in time, because we know the pedigree charts of all of these people and they do not share a known maternal ancestor.

Looking at the Y-DNA haplogroups, you’ll notice that there are 4 men and of those 4, three share the same haplogroup.  That is because, in this case, they are cousins who also share the same surname.  If I was an adoptee and made this discovery, I’d be in 7th Heaven, because this would be a very large hint.  However, if these men shared a haplogroup but didn’t share a common surname, again, it could be coincidence or a common ancestor very far back in time.

I put those words in bold because recently I’ve seen the tendency to jump to conclusions about the relevance of common haplogroup information related to autosomal testing.

Let’s use an example. At 23andMe, you are provided with what is considered an extended haplogroup.  Most of the time, these are correct except when the haplogroup designation involves insertions and deletions or reversions which can’t be detected reliably by this type of testing, only by full sequence or SNP testing.  Let’s not go there and let’s presume these are absolutely accurate for purposes of this illustration.  I happen to know my haplogroup listed at 23andMe is out of date.  It is listed as J1c2 and it is actually J1c2f, but that actually enhances the point I’m about to make.

Using the Behar paper supplement to “A Copernican Reassessment of the Human Mitochondrial Tree From its Root,”  the common ancestor for haplogroup J1c2 lived approximately 9700 years ago (plus or minus 2010 years standard deviation).  Therefore, my common ancestor with anyone sharing this haplogroup is anyplace from the current generation (my children or parents) to nearly 10,000 years ago – clearly not relevant for genealogy.  However, looking at my extended haplogroup, not determined by 23andMe, but found in my Family Tree DNA full sequence information, the common ancestor of J1c2f lived about 1900 years ago (plus or minus 3100 years standard deviation).  Clearly that makes about an 8000 year difference, which narrows the window, but it still isn’t necessarily genealogically relevant.

Furthermore, at 23andMe, haplogroup information is provided, but personal mutations are not, for either Y-DNA or mitochondrial.  This is why I referred to this type of match at “generic.”  For specific Y-DNA or mitochondrial matching, you’ll need to go to Family Tree DNA.

Specific Matching – Family Tree DNA

At Family Tree DNA,  Y-DNA, mitochondrial DNA and autosomal results require different tests.  The results are shown on different tabs on your personal page.

combining ftdna

Each tab provides you with a significant number of pages of information about each test and displays your results in different ways.

For both Y-DNA and mitochondrial (mtDNA), one of the options is “Matches” which shows you your personal matches at several levels.  For mtDNA, the levels are HVR1, HVR1+HVR2 and Coding Region, which equate to the three levels of tests that you can take – basically introductory, intermediate and advanced.  For Y-DNA, the levels are 12, 25, 37, 67 and 111 markers.

My match results are shown below, again, with the first column, names, removed.

combining mt matches

SmartMatching is important here, because Family Tree DNA has already done you the favor of removing anyone who is not a “true match.”  Notice that the first column shown here includes the envelope icon, a notes icon, a pedigree chart icon, and following that, the level of testing taken by this person.  I’m showing my full sequence matches here, so everyone has taken the FMS or full mitochondrial sequence test.

These are the people who also share the extended haplogroup of J1c2f.  This means our common ancestor lived sometime between now and about 2000 years ago (plus or minus the standard deviation.)  When you look at the oldest ancestors and the matches map that goes along with this test at Family Tree DNA, you can see how widely spread these “most distant” ancestors are.  You can also see that one person has listed their grandfather, which means they were confused.  A most distant mitochondrial, maternal, ancestor cannot be a grandfather – so this also calls into question the accuracy of their geographic information as well, shown in the Czech Republic, below.

Combining map

Two thousand years ago (give or take) the common ancestor of all of these people was one person, and their direct descendants, their children, all lived in the same place initially.  You can travel a long way in 2000 years.  My oldest ancestor, the white balloon is found in German and my closest match is found in Norway.

To understand how to use combined tools, you have to understand each individual tool first.

Family Tree DNA does provide a combined matching tool called “Advanced Matching” for Y-DNA, mtDNA and autosomal (Family Finder) tests.

Advanced Matching

Advanced matching allows you to combine test types and filter on specific fields.

combining advanced options

The most common advanced matching for autosomal DNA is the combination of the Family Finder test plus either mtDNA or Y-DNA results.

As they say, “your mileage may vary” and much of this variance will depend on two things.  First, how many people tested at which testing level of the mtDNA and Y-DNA tests and second, the relative rareness of your haplogroup.  Said another way, if your mtDNA haplogroup is H and/or if your Y-DNA haplogroup is R, you’re very likely to have a lot, many, low level matches because those haplogroups make up about half of the European population, respectively.  However, if your haplogroup is J1c2f, meaning that your base haplogroup is much less common than H and that you’ve taken the full sequence test, you’re going to get a lot fewer and a lot more meaningful matches.

At the haplogroup H level, which is the most common HVR1 results, your common ancestor lived between 12,000 and 30,000 years ago, depending on whose estimates you use.  Compare that to J1c2f’s 1900 years.  Big difference.  But is it big enough?  It’s a clue, just like any other clue.

What Matches Don’t Mean

Let’s say that on the advanced menu you selected two tests, the Family Finder and the FMS (full mitochondrial sequence) test.  The result is no matches.  IF you had a match at this level, it does NOT mean that your common autosomal match is on the maternal, mitochondrial line.  This is a very common mistake in logic.  It means that you should continue to include this line in your search and maybe you want to focus there.

Let’s look at why.  Autosomal testing reaches back in time to recent ancestors and measures how much of their DNA you share.  In the past 5 or 6 generations, you likely share some DNA from all of your ancestors.  After that, some of your ancestors DNA gets so diluted that it becomes in effect, washed out, or is present in such small quantities that we can’t effectively attribute it’s source.  Mitochondrial DNA however, is never admixed or divided.  Therefore time in terms of recent generations, unless we’re talking about when mutations occurred, like the mutation that set apart haplogroup J1c2f some 2000 years ago, is irrelevant.  Mitochondrial and Y-line DNA both measure back in time to your earliest ancestor in that line.

The best use of both mtDNA and Y-DNA with autosomal is to eliminate possible lines.

What Matches Do Mean

Let’s say I select Family Finder and the HVR1 level and show only people I match in both tests.

At this point, especially if you are haplogroup H, you’re going to get a long list of matches and people get very excited at this point. Don’t.

combining mt no match

Above is an example list.  Here’s also the problem.

Problem 1 – Most people only tested at the HVR1 level.  For haplogroup J, this means the common ancestor lived about 35,000 years ago, plus or minus 5,000.  What this really means is that if these people were to take the full sequence test, chances are they would no longer match you.  There are more than 100 subgroups of haplogroup J and chances are very good that the tester would fall into one of them.

Problem 2 – Some people have tested at the HVR2 level or the FMS level and don’t match you at that level, even though they matched you at the HVR1 level.  Look at the first result, the second column, the X.  This means they did test and they don’t match you.  This means that you’ve just eliminated this direct maternal line as a possible autosomal match, barring a mutation in the past few generations which is not impossible but extremely unlikely.

However, when people are desperate for any shred of evidence, they interpret this as “I match on the HVR1 level so this must be my common line with this person.”  That is flawed logic and is outright wrong in the situation where the person has tested at a higher level and does NOT match.  In fact, it’s just the opposite, you’ve just disproven this line.  Now I think this is a good thing, because that means you can focus elsewhere.

This same logic holds for Y-DNA matching as well.  Finding someone you match with at the 12 marker level in haplogroup R, especially R1b1a2 (M269) is quite common.  Finding someone you match at 67 or 111 markers and autosomally might be quite another matter.

A Third, Neglected Tool

There is a third tool that can be added to the mix here, but it’s not nearly as convenient as Advanced Matching.

Both 23andMe and Family Tree DNA test your X chromosome when they do their autosomal testing.  Family Tree DNA does not report these matches.  23andMe does show them on their Family Traits, Ancestry Composition and Family Inheritance: Advanced results.  Both companies include the X information in their raw data downloads (as does Ancestry), which you can then upload to www.GedMatch.com.  GedMatch is the great equalizer here, although they are temporarily (as of July 2013) not accepting any new uploads for the next month or so.

The X chromosome has a unique inheritance path which is different for men and women.  If you recall, women inherit an X from both Mom and Dad, but males only inherit an X from Mom.  They get the Y from Dad which makes them male.  If you match someone on the X chromosome, or you don’t, that too is powerful information.

Blaine Bettinger originally published some wonderful X inheritance charts on his blog, The Genetic Genealogist, in December 2008 and January 2009 documenting how to use the X chromosome for genealogy.

The chart below shows the male inheritance path for the X chromosome via the colored locations.  Because males and females both inherit the X from their mother, the maternal inheritance path of the X chromosome, the right half of this chart, is the same for men and women.  In this case, we’re particularly interested in the mitochondrial DNA path as well, which is the furthest right pink line on the chart, shown with the arrows along the edge.

combined x match

Including the X chromosome matching, here are your three possible outcomes.

  • If you match autosomally, you match at the deepest (full sequence) haplogroup level and you match on the X chromosome, you may indeed have a solid lead in the direct maternal line.  It’s a lead, nothing more.  It’s not confirmation of a common autosomal ancestor in that line.
  • If you match autosomally, you do not match at the haplogroup level, but you do match on the X chromosome, then you know it’s NOT the direct maternal line but it IS one of the other lines where you share an X chromosome.
  • If you match autosomally and you do not match at either the haplogroup level or on the X chromosome, you know that you can eliminate the direct maternal line and your match is probably on a line where you don’t share the X.  I say probably because like any other DNA that is shared in an autosomal fashion, meaning divided by approximately 50% in every generation, it’s possible after several generations to not show as a match on the X but to still be descended from those lines.

Jim Turner created some nice X chromosome inheritance pedigree charts that are easily printable which you can find here.

Take Away

What’s the take-away in all of this?  These are very powerful tools, but they only tools and they provide clues.  Some clues eliminate possible connections, some clues suggest them.  It’s only through multiple tools like triangulation and old-fashioned genealogy research that we confirm them.

We’ve gotten spoiled with the relatively easy Y-DNA answers.  A man tests and if he matches other men with the same surname with few mutations, we call it family and all is good.  Women don’t have that luxury and neither do adoptees, although male adoptees clearly have the advantage of a potential solid Y match.  Other types of DNA testing and analysis just aren’t as straightforward or easy, but that doesn’t mean the answer isn’t there.  Perseverance is key.  Common sense, understanding the tools and removing emotion, as much as possible, from the equation are critical.  If you’re in doubt, get help.  It’s a lot better to pay for an hour or two of consulting than to make a critical error in logic that can introduce errors into your family tree or cause you to waste time chasing the wrong lines.

Unraveling the secrets your DNA has to tell you is much like that game of Clue that we played as kids – accumulating pieces of information that, cumulatively, hopefully, lead to an answer.  Miss Scarlet did it in the ballroom with Professor Plum.  Or was it Colonel Mustard, or Reverend Green?

combined clue

Happy First Blogiversary

may you live in interesting times

Today is the first anniversary of the launch of www.dna-explained.com.  In a way it seems like just yesterday and in another way, it seems like DNA-explained has been a part of my life forever.  One thing is for sure, it’s been a very interesting year!

So now, I’m going to tell you a secret.

I was going to retire early and write a book.  I was going to have time on my hands.  I was going to work on my own genealogy and share the journey of what I learned.  I was going to weed my garden.  Are you laughing now?  Holding your sides?  Well, if so, you clearly understand just how unrealistic that expectation was.

I have less, much less, time now than ever.  My little part-time retirement job overtook my original career, and then some.  I’ve never worked harder, had less sleep, nor loved it more.  Is sleep really a necessity?  Seems like so much wasted time.  Spoken like a true genealogist!

Genetic genealogy is the marriage of my two passions, genealogy and science.  I spent my entire career on the very exciting edge of technology, first communications research and discovery, then mapping and specialized software.  Genetic genealogy isn’t much different actually, except it’s more bleeding edge (some days) than leading edge and it’s much more personal and fulfilling.  Not only have I learned volumes about my own ancestors – things there was no prayer of knowing even a decade ago – but I get to help others on that journey too.  Not only that, but I’ve gotten to be personally involved in scientific discovery.  I can’t imagine a better place to be!

And no, I’m not writing a DNA book.  Well, actually, I am, soft of – but just in a different way.  Blogs are the way of the future – so is electronic communication.  The problem with books about fast-moving and highly technical topics is that they move on and change so rapidly that tomorrow, literally, your book can be out of date and you have no way to update it.  Just what I don’t need is another box of boat-anchors in my office.

Not long ago, someone on the ISOGG Facebook page asked for a list of books and someone replied, “forget the books, read the blogs.”  I don’t want to invest the effort into one of those “forgotten books” when the blogosphere beckons and is so much more friendly towards photos, graphics, color and change.  It’s also a lot more personal and flexible.  And it lets me interact with you and vice versa .

So how have we done this first year?  As of yesterday, we surpassed 2100 subscribers and that doesn’t count all of the RSS feed, Facebook and Twitter followers.  My husband bet me I’d have 2000 by summer and I said I wouldn’t.  Good thing I didn’t bet much, because I was wrong.  Thanks to all of you.  Sometimes being wrong is a good thing!

This is the 162nd posting, so about one every other day.  I had goaled one a week.

There have been a total of about 2700 “real” comments and are you ready for this, almost 29,000 spam ones.  No, that is not a typo.  Yes, I do use a spam filter, but I still approve every single comment that is posted – and now you know why.  The spam filter doesn’t catch them all, because spammers are crafty!

In total, the articles are “tagged” in 81 different categories so you can find them by searching.  One of the articles I’ll be writing soon will tell you how to use and search blogs more efficiently, including this one!

http://www.dna-explained.com has had a total of 249,545 views, nearly a quarter million and that doesn’t count the 2100+ people who receive postings via e-mail and RSS.  We average just over 1000 hits per day now.  Wow!

What is the most popular category of blog articles visited?  Autosomal DNA.

How about the most popular article?  Big News! Probable New Native American Haplogroup.  That shocked me.  For a long time, the most popular article had been the kickoff of the Geno 2.0 announcement, National Geographic – Geno 2.0 Announcement – The Human Story published on July 25, 2012.  Older articles have more time to amass hits – and the haplogroup article was just published June 27th.  Indeed it does seem to be big news and is of interest to lots of people.

One of my reasons for creating this blog was as a matter of self-defense. Most of you know that I also have a business webpage, www.dnaexplain.com.  I receive a lot of inquiries from the page and through my various list memberships.   The DNAeXplain webpage is professionally written and updating content it is not just a matter of typing.  I have to create something, send it to the provider and they make the change or the update.  And it’s not convenient or free.  Needless to say, this is not a conducive environment to making regular updates or additions.  I do need the separate website though in order to take orders for consulting and for DNA Reports, so the blog doesn’t by any means replace the webpage.

I was constantly referring people to several papers on my webpage, which are still there, but I needed more flexibility.

So I decided that if I wrote the answers to the most frequently asked questions, well, including graphics and pictures (which really are worth 1000 words), once, I could use that document to answer people’s questions, over and over again.  The good news is, so can you.  What are the most commonly asked questions and the pages I use to answer them?

  1. What can DNA testing do for me?  That is such a basic question and the answer could be that book I didn’t write.  I use the article 4 Kinds of DNA for Genetic Genealogy to answer this one.
  2. I think my ancestor was Native American and I want to prove it.  This question also has other variants like, proving which tribe, joining a tribe, getting benefits and free education.  I refer people to the article Proving Native American Ancestry Using DNA.
  3. I’m adopted, or I don’t know who my father is, and I want to use DNA testing to find my parents/ancestry.  This is also relevant for people who discover an undocumented adoption in their line that “interferes” with the genealogy they thought they knew.  For this answer, I use I’m Adopted and I Don’t Know Where to Start.  This article, along with many others, links within the article to other resources as well.
  4. What can autosomal testing do for me?  If I had a dollar for every time I’ve received some flavor of this question, I’d be really retired and on that World Cruise!  The article I use for this is Autosomal Basics.
  5. And then the companion question to the one above, my autosomal results are back – what do I do with them now?  For this one, I refer people to the summary article for The Autosomal Me series.  While it is focused on a particular challenge for me, minority Native admixture, the tools and techniques are relevant for everyone.

We’ve had an awesome first year, thanks to all of you, and I’m looking forward to even more breakthroughs and findings in year two.  I love sharing your stories and victories too and always appreciate tips and hints pointing out genetic genealogy items of interest.  I have some fun articles planned for this upcoming year and there are discoveries on the horizon, so stay tuned!!!

And indeed, may we all continue to live in very interesting times!