Is The Y Pool Too Shallow?

Posted on October 11, 2012 by Roberta Estes

Update: This article is no longer current, but I am leaving it for historical context.

On one of the lists I follow, there was some discussion recently about why some people have no matches. Someone expressed the rather unpleasant opinion that this was “just a way to rip people off.” I explained that when I do the Personalized DNA Reports for people, I see this regularly, even in haplogroup R1b, because of rare marker values.

Someone else then said that “it is because the pool at present is too narrow and unfortunately for many people it is still very early yet to find any matches. . .not that it is a rip off, but you do have a marketing strategy and it is rather robust and full of promises which may not be met for another five to ten years depending on how many more people test.”

Hmmmm…..really? I don’t think so, but let’s take a look.

First, let’s take a look at the size of the pool. Family Tree DNA alone, not counting records from other testing companies, or the Genographic participants who did not transfer to Family Tree DNA, which I estimate is about 400,000 in total (mtdna and yline), as of October 5^th, 2012, has 243,921 Y records. Of those, 156,396 tested at 25 markers, 136,335 at 37 markers and 63,265 at 67 markers. Not a terribly shallow pool, it would seem.

Let’s look at this another way. The population of the US is about 311,000,000. If you divide the quarter million people who have Y line tests at Family Tree DNA, alone, into that total, you come up with 1,244, meaning one of every 1,244 people has had their Y-line DNA tested. If you take into consideration that approximately half of that population doesn’t have a Y chromosome that means that one of every 622 men has had their Y-line DNA tested. Of course, all of the participants aren’t from the US, but hopefully the math puts it into perspective. Not bad for a brand new industry 12 years ago!!!

I decided to do a little scientific survey for myself. When I do Y-line DNA reports for people, one of the things I do for them is to explain why they have the number of matches they do at each level. This invariably has to do with both the haplogroup, subgroup and the rarity of the individual markers. I have built a very large chart of marker frequencies for each haplogroup over the years I’ve been doing the Personalized DNA Reports.

So, let’s look at 30 people, selected at random, in no particular order. The only selection criteria I used is that they must have tested at 37 markers or more.

In the table below, the numbers in the marker columns are the number of matches. Blank means that the individual did not test at that level. Zero means they did test and have no matches.

So let’s see what we have here.

Lots of 12 marker matches. The most for one person was 6393. This person was fortunate though, because they had rare markers to whittle that down to 663 at 25 markers, then 42, 5 and 1, respectively on the higher panels.

Being a WAMH (Western Atlantic Modal Haplotype), the most common 12 marker value grouping in Europe (allowing for one mutation to still be considered WAMH) means a lot of matches in the first panel, but has little influence past that.

Two people had no matches, one R1b and one T1. When I first started doing these reports, I was surprised to see R1bs with no matches, but I probably have as many of those as all other haplogroups combined. We think of R1b being extremely common, and it is as a whole, but there are obviously lots of pockets of rare lines out there just waiting to be discovered.

The average person has about eight hundred 12 marker matches, just under 200 25 marker matches, fourteen 37, thirteen 67 and not quite one 111 marker match. There still aren’t a lot of folks who have tested at the 111 marker level. The good news is that if you have a 111 marker match, it’s generally a very solid genealogical match. Most people use the 111 marker test to resolve 67 marker matches or to find line marker mutations within a family to identify specific ancestral lines.

But back to the original question. Is this pool too shallow to produce results? It think all of those 24,000+ people who have matches at 12 markers don’t think so. I think the 28 of the 30 people who have matches at any level don’t think so. The “average” guy who has matches at every level doesn’t think so. The 2 who don’t have any matches might wonder. I don’t think so, but I’ll let you wade in for yourself. Does this look like a shallow pool to you or a way to rip people off?

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Autosomal Matching – Is Great-Grandma’s Brother Really Her Brother???

Posted on October 9, 2012 by Roberta Estes

Do you remember story problems from grade school? You either loved them or hated them. There was no in-between. Here’s a modern-day story problem, and love them or hate them, if you participate in autosomal DNA testing, you’ll need to know how to work this story problem. The good news is, I’ll show you how. Yep, I was one of those “loved them” people.

I received the following query about how to determine relationships between distant relatives, and what should be expected. It’s hard to know how interpret results if you don’t know what they “should” look like.

“I have conducted traditional genealogical research on my father’s maternal side. I have researched back to my great, great grandmother. Her parents were enslaved yet it appears that her parents cohabitated since 1864 according to a document that was produce well after that actual time. My genealogical concern is because the date of 1864 is well after the oldest child (my great, great grandmother) and two other children were born. This lead me to believe that the three oldest children within this family were perhaps the father’s from a previous relationship. The lady who appears as his wife since 1864 would have been 13 when my great, great Grandmother was born.

Though my great, great grandmother married and remained in North Carolina, her parents and the remaining siblings migrated west. I am presently researching the siblings to present day descendants. One such person I have contacted, I believe is the grandson of my great, great grandmother’s brother. I have been talking with him and his family. Unfortunately, they know very little to nothing regarding his grandfather. I have just conducted an autosomal DNA test on this grandson of the person I believe is my great, great Grandmother’s brother. I have a total of four participates within my father’s side to compare him against. The comparison is against myself, my 1st cousin and my uncle and my aunt. Yet, none of us are showing an autosomal match to this grandson. The only thing that I notice is that I as well as my uncle match another person who in turn also matches this grandson.

My question is since I don’t have a match with any of my participates against this person (grandson), should I conclude that there is not common ancestor with him? Or….since there is another person, of whom I know nothing about, which matches myself and my uncle and also this person(grandson, should I conclude that is still likely a common ancestor? My match as well as my uncles match to this third person is not located on the same chromosomal area as this third person and the (grandson).”

When I receive queries like this, the first thing I have to do is to make a chart of the relationships. The people who have taken autosomal tests are shown below in bold.

Now that we can see who is related to whom, or who we hypothesize is related to whom, now we can do some useful math.

First we need to look at how far down the path the participants are from the original ancestors. We know that autosomal tests are fairly reliable until you get to about the 1% range, then it becomes sporadic and more the roll of the dice in terms of how DNA was inherited.

In this scenario, we have 5 generations in total, so the percentage of DNA that the descendants carry of the ancestors is shown in the following chart. You can count generations in either direction, but for purposes of showing percentages I’m counting beginning with Mom and Dad.

Generation	People	% of DNA of Oldest Ancestor
1	Great grandmother and her brother	50
2	Grandma and child of ggm brother	25
3	Father, Aunt, Uncle and grandson of ggm brother	12.5
4	1^st cousin and participant	6.25

Ok, so if indeed these people are all descended from Mom and Dad who were together in 1864, we are well above the 1% threshold.

Now let’s look at how much DNA each of the people who participated can expect to share with each of the other participants. For this, I’m using the ISOGG DNA Statistics page and the chart that shows percentages of DNA in common between various relatives.

To use this tool, the numbers relate to “self”, so you need to figure out who is the “self” relationship you are calculating.

So let’s build another chart – a relationship chart. In our chart, we’re going to have two math columns, one that shows percentages of DNA shared if both great-grandma and her brother are descended from both parents, and one if they only share one parent, so are half siblings. Bolded people below are those who have taken the autosomal test.

Person One	Person Two	Relationship	If Full Siblings	If Half Sibling
Great grandmother	Great grandmother’s brother	Siblings or half-siblings	50	25
Grandma	Child of brother	First cousins	12.5	6.25
Grandms’s son (Father) or Uncle or Aunt	Grandson of great-grandmother’s brother	Second cousins	3.125	1.563
Participant or first cousin	Grandson of great-grandmother’s brother	Second cousins once removed	1.563	0.781

So here we have a quandary. We are very close to that 1% mark, so let’s look at the various scenarios. The best chance of a meaningful match are at the third level where the aunt and uncle have both tested to see if they match great-grandma’s brother’s son. The next generation, the participant and his first cousin are both another generation removed, so less likely to match than the aunt and uncle who are closer genealogically.

Great grandma and her brother are full siblings. If this were the case, we would expect for the Aunt or Uncle to match the grandson of great-grandmother’s brother at about 3.125%. Neither do. It’s not likely, but not impossible that they are full siblings.
Great grandma and her brother are half siblings. If this were the case, we would expect to see about a 1.5% match. This is perilously near that magic 1% number. They don’t match, but because of how close they are to the threshold, I would not call this conclusive.

How to solve this mystery.

The participant states that while they don’t match each other, there is one person (called the stranger, below) who matches himself, the uncle and great-grandma’s brother’s grandson. This may or may not be relevant to the question at hand. However, it is worth pursuing. If the match were on overlapping portions of the same chromosome, then it’s a good bet that indeed, it is from the same ancestor, but it’s not.

At this point, there are only three things to do.

1. Test more people. If the grandson of great-grandma’s brother has siblings, test them. Better yet, if he has an aunt or uncle, that gets us one generation closer. If there are more people in the generation of the aunt and uncle who could test, from any descendants of great-grandma, test them. If another descendant of this family could be found from another line to test, that would be great. Given that DNA is divided in each generation, and is passed in clumps, each person inherits differently. Therefore, the more people you test in a line, the better your chances of finding a definitive answer.

2. Use GedMatch. All 4 family members, plus the stranger who matches the participant, the uncle and the grandson of great-grandma’s brother download their results to GedMatch, drop the comparison thresholds, and see if you have matching segments on identical chromosomes between the stranger and the three family members.

3. Have Tim Janzen phase these people and obtain his opinion on the relationship after his phasing. Phasing is where in essence Tim attempts to genetically “recreate” (on paper) the common relative between the uncle, aunt, participant and first cousin, and then compares that “composite person” to the grandson of great-grandma’s brother. Tim has written specialized tools to do the phasing and provides the consulting services to compare the results.

There are also some other possibilities that need to be considered, based on the history of this family and America during that time.

It is extremely unusual for children to be with a father during or after slavery. Children belonged to the mother and the owner of the mother. The father may or may not have been on the same plantation. Slavery was an enforced matrilineal society.
1864, the date given that this couple began to be “married” is likely the date of emancipation. In other words, it could have been that they had children together but were forced to live apart before this, or that they decided when they were freed to become a couple. If their children had death certificates, that might provide the answer.
The children could have belonged to either the man or the woman of the couple, or the children before 1864 could have all had different “other” parents. Slaves often formed loving relationships when they could, but they were not allowed to “marry” nor were their family ties always respected when financial decisions came to be made regarding the slaves. Slave women were not always in charge of their own bodies in terms of the ability to choose with whom they would and would not have children.
The children may not all necessarily belong biologically to the man and woman. The end of slavery was a difficult time and if there were orphan children, they could have wound up with any family who would take them. They could also be related, but not as children. Perhaps nieces, nephews, cousins, etc.

We don’t have a definitive answer today for this particular story problem, but now that we understand how to use the tools and what to expect, I’m confident that this family will find their answer.

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Family Tree DNA Conferences

Posted on October 5, 2012 by Roberta Estes

It’s hard to believe, but the 8^th Annual International Genetic Genealogy Conference for project administrators is upcoming Nov. 9-10 in Houston. And wow, where did the last 8 years go? I remember how excited we were when the first conference was announced. I think the spaces filled for that one the very first day registration was open. Now there are more spaces available, but it does fill, and there is a cutoff, so if you want to sign up, don’t wait too long. You sign up from your GAP administrator page or you could also call Family Tree DNA.

There aren’t too many of us who have been to all of the conferences. Probably a handful of diehards! And yes, I am one of them, along with several others.

Family Tree DNA often doesn’t publish the actual agenda until fairly close to the conference date. I’ve received e-mails asking about what former conferences have been like from people who are trying to decide whether to sign up or not.

So this blog posting is really a chat and a run down memory lane. I’ll be introducing you to some of the folks you can expect to see at the conference too.

I’m going to work from last year’s agenda. Yes, I’m so geeky that I have every one of the notebooks we’ve been given, and I can even put my hands on them. If you knew how much paper is in my office, you’d know just how remarkable that is!

We normally fly in on Friday in the day. There are some “events” that aren’t on the Family Tree DNA schedule. Some special interest groups meet at one time or another, and Friday later afternoon or early evening is a favorite time. Its about the only time.

Friday evening, at about 7 or 8, is a reception. Now I can’t remember which evening is the ISOGG reception and which one is the FTDNA reception. One is Friday and one is Saturday. You don’t really need to remember which is which, just where to show up and what time. We all pitch in for the ISOGG reception too. Some kind of munchies or something to drink (alcoholic or not.) There is a cash bar at the FTDNA reception.

Our group sort of takes over the lobby and the lobby bar and restaurant as well. We all have nametags so we just all walk up and introduce ourselves. After 8 years for us who have been before, it’s much like a homecoming. I can’t wait to see all my friends again and a few of my cousins that I didn’t know were cousins before DNA testing came along.

Newbies or oldtimers, it’s a wonderful opportunity to meet people, talk over challenges or successes, and just enjoy the company of those with like interests. It’s also great to put a face with a name. Of course, I can remember the face forever, but the names get a bit skewed. Oh well, that’s what nametags are for.

The actual conference and registration begins on Saturday morning, fairly early. They have a full day of sessions both Saturday and Sunday. The hotel does not have a complimentary breakfast and let’s just say it’s not inexpensive, or quick, in the restaurant.

I do know who a few of the speakers will be this year, but it’s not my place to steal that thunder, so I won’t. I’m looking forward to the ones I know about though, I assure you.

Max (below) and Bennett (above) always provide a warm welcome to everyone.

Last year, Spencer Wells, the Scientist in Residence for the Genographic project opened the conference with an update called “News from the Field.” Spencer (below) is always interesting. And that’s the understatement of the year. I live vicariously through Spencer’s adventures!

Bruce Walsh, a mathematician from the University of Arizona, who we all know and love, followed Spencer. Not an enviable slot. These men are as different as night and day. But if you have a math question, or even if you don’t, Bruce will answer it for you….then he will explain to you in terms you can’t possibly understand the theory of relativity:)

I remember the first session I attended the first year with Bruce. I walked out of that session with my eyes glazed over like donut holes. I remember him saying “It’s simple……then writing an impossibly long string of numbers.” Keep in mind that I’m a computer science graduate….back when computer science was in the engineering school….so I understand math and science….but not at the PhD level, no matter how easy that PhD level is to a PhD! I talked to Catherine Borges later who said “I think I understood a few words.” Yep Katherine, we’re on the same page.

Suffice it to say that we’ve all learned a lot since then, but we all need something to stretch the limits of our understanding and Bruce always does. Well, except the one year he really toned it down to undergrad level and we told him it was too simple that year. We always look forward to Bruce’s sessions. I understand full sentences now, most years! Dr. Walsh has a little tradition too. I won’t tell you what it is, but the photo above holds a hint.

Mid morning there were breakout sessions. Max and Bennett always try to have a wide variety of topics and levels of sessions. These were “Phasing and Other Analysis of Family Finder Results” by David Pike, who has written a phasing utility, and “Walk Through the Y” with Thomas Krahn (below) who runs the lab at Family Tree DNA.

My husband always goes with me and we split up between these breakouts because I can never decide which one I wasn’t going to go to and try as I might, I can’t clone myself so I can go to both.

Lunch, the most popular session of the day. Lunch is provided, and is generally a buffet type of event. Lots of visiting and socializing going on. The ice is well broken by now.

After lunch, Dr. Michael Hammer spoke about “Neanderthals in our Midst: Just How Modern is our Genome” which was a fascinating session. Michael, Family Tree DNA’s Chief Scientist, runs the Hammer Lab (yes, named after him) at the University of Arizona who has partnered with Family Tree DNA all these years. I don’t know what he was saying in the photo below, but it must have been pretty good because I seem to be hanging on every word.

Next on the agenda was Stephen Morse with his “One Step Web Pages.” No this wasn’t exactly DNA, but it wasn’t terribly separate either and by this time, our minds needed something that we didn’t have to think too hard about. Steve has great tools and is wonderfully entertaining, especially for genealogists.

The favorite conference sessions seem to be the Q&A panel and sessions. The official agenda closes each day with Q&A where attendees get to ask questions and the speakers of the day answer them. This is one of the best parts of the conference. Each of the speakers, below, have thier questions and Matt Kaplan is answering his. Matt, by the way….has been “finishing” his PhD for nearly all 8 years. I have to go this year to see if he finished!!!

Dinner is on your own, but don’t be late back for the evening reception. Lots of other fraternizing goes on in the lobby, which has couches and conversation areas, in the lobby bar and restaurant.

Sunday’s agenda starts even earlier than Saturdays because the ISOGG (International Society of Genetic Genealogy) meeting is generally at 8 AM. Katherine Borges, below, the Director, keeps everyone current with what is going on in the genetic genealogy areana and needs our attention. Last year the big topic was the FDA and their attempts to regulate DTC testing.

The first official Sunday session was with Elliott Greenspan. If the surname looks familiar, yes, Elliott is Bennett’s son, but Elliott is perfectly well qualified, even without the Greenspan name. Elliott is in charge of the IT department and he did a session about the year in review and the year ahead. He does something like this every year and I expect this year will be no exception.

That was followed by Peter Hrechdakian’s “Armenian DNA Project.” I wasn’t terribly excited about this, but was I ever glad that I didn’t skip out on this one and read my e-mail or something. It was wonderful, inspirational and enlightening, and had implications far beyond Armenia.

That session was followed by Peter Biggins and Thomas Roderick with the “DNA of the Three Collas.” I did have to step out and didn’t see that session. I think that’s when Cece Moore (above, notice her necklace) was filming my segment for the FTDNA infomercial (below). See, I told you all kinds of things were going on.

Steve Morse followed with a second presentation called “One Step Web Pages, Part II.” I learned things that I still use regularly.

Lunch is provided again on Sunday. The food is always good there. But warning, get dessert early if you want it.

The afternoon session was led off by Jessica Roberts, a lawyer, who talked about “DNA Tests and the Law and the Potential Use of Ancestry Tests for Immigration.” Ok, it wasn’t the most exciting session of the conference.

However, the final speaker, Dick Hill, was just wonderful and had us all spellbound as he gave his session “An Adoptees Journey to His Ancestral Surname.” As you know, Dick has gone on to publish his story as a book, “Finding Family”.

On the last day, the closing panel is very popular, and you’ll be very disappointed if you decide to leave early to catch your plane. Been there, done that. Don’t expect the sessions to end until 5. The final panel is the same format as the day before, with attendees writing their questions and the panelists answering them.

And after that, it’s goodbyes and a mad dash for the airport, which isn’t far because the hotel is one of the airport hotels. Still, you have to have enough time to ride the hotel bus, which may be full, and get there in time for all of the security checks.

So now that you’ve had a whirlwind tour of last year’s conference, you have some idea of what to expect.

If I had to describe it in one sentence, I would say that it is something like drinking from a firehose fueled by the best educators in the genetic genealogy and population genetics world. Some are from the academic world, some from the business and genealogy environments, and some of them, folks, are us. If you’re not really serious about genetic genealogy, this conference would likely be overwhelming. If you want to come and learn, you’ll have every opportunity. Every single one of us had a first conference and a first day in genetic genealogy. We all start at the same level. These conferences are one way to grow from there!

If you can’t attend, several bloggers do cover it, although not immediately. We barely have time to go to the “loo” while we are there. Several people do tweet as well and a few e-mail to the lists….but I guarantee you, it’s not the same as being there in person.

Katherine Borges, Bennett Greenspan and Emily Aulicino enjoying a relaxing minute. Actually, I think Katherine is begging Bennett for some new feature!!! A lot of that goes on that the conference too:) We all hope to see you there!

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Working with Mitochondrial DNA Results

Posted on October 4, 2012 by Roberta Estes

I recently received this query. It made me smile. I receive a lot of e-mails similar to this.

“I always thought I was an intelligent woman but I am absolutely stymied on how to proceed with the DNA results from Family Tree DNA.

My mtDNA has 65 pages of HVR1 and HVR2 matches. What does this mean? Is there somewhere I can find a step by step procedural on how to proceed after getting DNA testing and how to apply it to genealogical research? What should I do first?”

These are all good questions. Unfortunately, mitochondrial DNA is more difficult to use genealogically because of the name changes in every generation. What we really need is a big centralized data base someplace where we an enter our mitochondrial line names to see if anyone in that line has tested, but that data base doesn’t exist. That data base would provide the same type of function for mitochondrial DNA that surname projects do for paternal lines. If you want to know if your Johnson Y-line has tested, you just go and look in the Johnson project. You can’t do that with mitochondrial DNA, so it’s everyone for themselves. This means we need to be sure we do everything we can to help ourselves which gives us the best odds for success. My Dad used to say that luck was 99% elbow grease!

What this lady didn’t say was whether or not she had tested to the full sequence level or just to the HVR1+HVR2 level. From what she did say, I’m betting that she is haplogroup H, the most common haplogroup in Europe, carried by about 50% of the people, and that she did not get her full sequence tested. If you are haplogroup H, and you have any HVR2 matches at all, the only reasonable way to sort out who is related in a genealogical timeframe is to take the full sequence test. Otherwise, trying to work with 65 pages of matches is kind of like swatting at flies.

However, not everyone is reasonable, and maybe few of the people you match have taken the full sequence test. Even if you have taken the full sequence test, there is nothing you can do about those who haven’t and you’d like to be able to use the results you have to see if anyone is a genealogical match to you.

In my experience, a short, less than one page, e-mail sent to your matches with some very specific information is the best way to garner a response. No one wants to have to sort through a rambling e-mail, so organize it concisely so that the person receiving the e-mail can immediately see the relevant information. What you’re hoping is that they will take a look and say “Hey, I know that ancestor,” or maybe “My ancestor is from that location too.”

In my case, I have 222 HVR1+HVR2 matches, but no full sequence matches. Many of my HVR1+HVR2 matches have taken the full sequence test, and I know they are NOT matches to me at the full sequence level, so I don’t need to send them the e-mail. They’ve been eliminated.

On the list above, there are only 4 people are showing as matches who did not take the full sequence (FMS) test, so they will receive the following e-mail message with relevant information about each generational ancestor, including name, birth and death years and locations, spouses name and where they lived if it wasn’t where they were born or died:

Hello <their name>,

At Family Tree DNA, you and I show as mitochondrial DNA matches at the HVR1+HVR2 level. This means that someplace back in time, we shared a common ancestor. I have tested at the full sequence level as well, so if you were to upgrade we could confirm that we continue to match, and in a genealogically relevant timeframe, or we would know that we don’t, and we can discontinue our search because our common ancestor was hundreds to thousands of years ago.

I’m hopeful that perhaps we can identify our common ancestor, or perhaps just a common location.

My ancestors on my maternal, mitochondrial line, are as follows:

Me
My mother
My mother’s mother – Edith Barbara Lore born 1888 Indianapolis, Indiana, died 1960 Rochester, Indiana, married to John Ferverda, lived in Silver Lake, Indiana
Edith’s mother – Nora Kirsch born 1866 Dearborn County, Indiana died 1949 Lockport, NY, married Curtis Benjamin Lore, lived in Rushville and Wabash, Indiana
Nora’s mother – Barbara Drechsel (also spelled Drexler) born 1848 Goppmannsbuhl, Bayern, Germany, died 1930 Wabash, Indiana, married Jacob Kirsch, lived in Aurora, Indiana
Barbara’s mother – Barbara Mehlheimer born 1823 Goppsmannbuhl, Bayern, Germany, died 1906 Aurora, Dearborn County, Indiana, married George Drechsel
Barbara’s mother – Elisabetha Mehlheimer, born about 1800 probably in Goppmannsbuhl, Germany, died before 1851

Goppmannsbuhl is a small village outside Speichersdorf, close to Bayreuth and the Czech border, not too far from Nuremburg in Germany. You can see the location on the Google map below.

https://maps.google.com/maps?f=q&source=s_q&hl=en&geocode=&q=G%C3%B6ppmannsb%C3%BChl,+Speichersdorf,+Germany&aq=1&oq=goppmann&sll=37.0625,-95.677068&sspn=43.25835,101.513672&vpsrc=0&t=h&ie=UTF8&split=0&hq=&hnear=G%C3%B6ppmannsb%C3%BChl,+95469+Speichersdorf,+Oberfranken,+Bayern,+Germany&z=16&iwloc=A

Do any of these families or locations look familiar to you? Sometimes even if we can’t find a common ancestor, we discover that our ancestors were from the same general area. Where does your mitochondrial DNA line come from?

Roberta Estes

You’ll note that I did three things here. I mentioned major landmarks nearby that might be familiar to people, including the Czech border. At least one of my matches is from Czech Republic and if I don’t mention how close my ancestors lived to that border, people from there will see Germany and dismiss any possible match. I also included a map that people can click on. Sometimes that helps. Lastly, I clearly show the mitochondrial path so that if they don’t understand how that works, they can use my example – me to mother to her mother, etc. You’d be amazed at how many people are unclear about this.

Oh, and one last thing, I don’t include the information about my mother. She is deceased, but they just don’t need that.

While we are waiting for replies, we can upload our information to Mitosearch and continue our search there. You can do that by clicking on the “upload to Mitosearch” link on the bottom of your Matches page at Family Tree DNA, or you can enter your results manually if you tested elsewhere. We can also upload our GEDCOM files to both locations. That makes it easier for potential matches to see if there is anything relevant.

For the most part, you’ll find the same people at Mitosearch that you’ll find at Family Tree DNA. There are a few exceptions, but generally, people who test elsewhere either don’t know about Mitosearch or aren’t motivated to add their information there. In some cases, I think people get discouraged and don’t do what they can to find out about their matches. Case in point is that I seldom receive query e-mails about potential matches, and no, it’s not because I send them an e-mail immediately. You know, the cobblers kids and no shoes:)

The great thing about Mitosearch is that you can click on the User ID to see information provided by your matches when they were uploading or entering their information. There are various search criteria. I always select the option to compare me only to those who have tested both the HVR1 and HVR2 regions, and only show me people who match in both.

Here’s my entry.

Unfortunately, in Y-search, Mitosearch’s companion data base, you can search by surname, but Mitosearch doesn’t contain that feature. Not only does YSearch give you matches, but it also provides you with a list of pedigree charts that the name appears in. For names like Smith, this probably isn’t terribly useful, but for Mehlheimer, one match would be a goldmine.

I click through the User Ids of all my exact matches. An exact match is when both “differences” columns equal zero.

If you want to know more about your mitochondrial DNA and the secrets it holds for you, you can purchase a Personalized DNA Report.

______________________________________________________________

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4 Kinds of DNA for Genetic Genealogy

Posted on October 1, 2012 by Roberta Estes

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Let’s talk about the different “kinds” of DNA and how they can be used for genetic genealogy.

It used to be simple. When this “industry” first started, in the year 2000, you could test two kinds of DNA and it was straightforward. Now we’ve added more DNA, more tools and more testing companies and it’s not quite so straightforward anymore. But’s it’s a LOT better for genealogists.

Four Kinds of DNA

There are 4 different kinds of DNA that genealogists can use to provide information about our ancestors.

1. Y DNA for males only – Family Tree DNA tests the Y chromosome which is passed from father to son, along, in most cases, with the surname. Only men can take this test, because only men have a Y chromosome.

Female genealogists need to ask their fathers, brothers, uncles and male cousins to test for the surnames in question. You can read the article, Concepts – Who to Test for Your Father’s DNA.

Family Tree DNA compares the results of the Y chromosome test between males to see if they match and are related in a genealogical timeframe.

Testers also obtain their haplogroup which is a genetic clan and tells your ancestral story of deep ancestry, such as European, African, Asian or Native American heritage.

Family Tree DNA sponsors free surname, haplogroup and other special interest projects, such as American Indian or regional projects. Projects are indispensable for both genealogy and genetic genealogy research and everyone can join.

Family Tree DNA is currently the only testing company that offers Y DNA testing providing matching, projects and other tools, including the advanced Big-Y test. Y DNA test levels include 37 and 111 markers in addition to the Big Y-700 test which provides a minimum of 700 markers and extremely granular advanced haplogroup testing.

Testing more markers is how one determines who they are related to most closely in time. The Big Y-700 is definitely the best test, but the 37 and 111 marker tests can be considered entry-level. The Y DNA test is great in combination with the Family Finder autosomal test, and advanced matching allows you to see who you match on both tests.

You can read more in my article, Working with Y DNA – Your Dad’s Story.

You can click here to order a Y DNA test.

2. Mitochondrial DNA for everyone – Mitochondrial DNA tracks your matrilineal line and is passed generationally from mother to mother to mother to both genders of her children, but only females pass it on.

Males carry their mother’s mitochondrial DNA but they don’t pass it to their children.

Like Y DNA, mutations are compared to see if testers share an ancestor in a genealogical timeframe, but because the surname changes in every generation, it’s more challenging genealogically to make the connections.

Mitochondrial DNA testing also provides a haplogroup which defines deep ancestry, such as European, African, Asian or Native American.

Family Tree DNA offers free haplogroup and other special interest projects such as the AcadianAmerindian Project.

Family Tree DNA is the only testing company that tests mitochondrial DNA and provides matching, projects, and tools.

You can read my 4 part series about mitochondrial DNA beginning with the first article:

Mitochondrial DNA: Part 1 – Overview

Articles 2, 3 and 4 in the mitochondrial series are useful after you’ve received your test results.

You can click here to order a mitochondrial DNA test.

Inheritance Paths

The paths of inheritance for both the paternal YDNA, blue, and the mitochondrial DNA, red, are shown below.

Autosomal DNA is inherited from all of your ancestors shown in the pedigree chart above, and further back in time as well. Y DNA and mitochondrial DNA are extremely important to inform us about the specific ancestry, both near and deep, of one line each, while autosomal DNA provides us with a different type of information about a wide range of ancestors.

In addition to Family Tree DNA who provides testing, mitoYDNA, a non-profit has begun accepting transfers for matching. Additionally, both WikiTree and Geni allow users to associate Y and mitochondrial DNA with specific ancestors.

3. Autosomal DNA for everyone – Autosomal DNA tests the DNA contributed by both parents on the 23 chromosomes, not just two direct lines as with Y DNA and mitochondrial DNA.

While Y DNA and mitochondrial DNA are never recombined with the DNA from the other parent, you do receive half of your autosomal DNA from each parent. Autosomal DNA is recombined in each generation, so each new generation inherits less DNA from previous generations.

The inheritance paths for autosomal DNA are shown below. You can see that this includes all of the various ancestral lines, including the lines that also contribute the Y-line and mitochondrial, but those are separate and different tests providing different kinds of information.

Autosomal DNA tests are provided by:

You can order an autosomal DNA test by clicking on the vendors’ links, above.

These tests provide ethnicity estimates and a list of cousin matches from all of your ancestral lines, but it’s up to you to figure out how these cousins are related to you. Various testing companies provide different tools to help in this quest, each having their own strengths.

All four companies provide the ability to download your raw data results so that you can perform further analysis by using several online tools, the most popular being GedMatch, DNAPainter, Genetic Affairs and DNAGedcom.

Many articles on this blog are devoted to working with autosomal DNA and is entirely keyword searchable for your convenience.

4. The X Chromosome – The X chromosome is included as part of autosomal DNA testing. The X chromosome has special inheritance properties that allow people to use these results separately from the rest of the autosomal results.

The 23rd pair of chromosomes defines your biological sex. If a father contributes his Y chromosome, the child will be male. If a father contributes his X, the child will be female. Mothers always contribute an X, because they don’t have a Y chromosome.

The inheritance path of the X chromosome is different for males and females, because males only inherit an X chromosome from their mother (and a Y from their father which makes them male), but women inherit an X from both of their parents. Therefore, an X match with another tester can eliminate several potential ancestors. For males, an X match must come from his mother’s side of his family.

You can read about X matching, along with a helpful X inheritance chart, in the article, Who Tests the X Chromosome?

Getting Started

You need to test before you can receive results to jump-start your genealogy.

I recommend that every genealogist do the following:

Test your Y DNA or the Y DNA of your paternal lines by recruiting others
Test your mitochondrial DNA
Build a DNA Pedigree chart
Test with or upload your autosomal DNA to all 4 vendors. Different people test at different locations. I have important matches at each vendor who have never tested elsewhere.
Upload your autosomal DNA file to GedMatch for additional functionality. It’s free with Tier-1 advanced functionality requiring a subscription.

Uploads

Family Tree DNA and MyHeritage accept uploads for free, with an unlock fee required for advanced tools. If you subscribe to MyHeritage, no unlock fee is required. You can begin a free trial subscription here.

Ancestry and 23andMe do not accept uploads, so you must test there directly. Ancestry requires an additional subscription for some functionality, such as seeing your matches trees and advanced features. Here are my 4 articles with instructions for how to download and upload your DNA file:

Have FUN! Your ancestors are waiting on you.

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Disclosure

Thank you so much.

DNA Purchases and Free Transfers