Thursday, July 7, 2016


I could call this post Herb's MtDNA (Part Two) because it's the continuation of something I wrote more than eighteen months ago. I even wrote at the time "I hope there will be a Part 2." But it's worth starting this from scratch. You can go back and reread Part One later.

Prologue - Mutations in Y-DNA
Back when I first started looking at DNA, I had a brief discussion with Bennett Grerenspan of Famliy Tree DNA about the rate of mutations in Y-DNA. At the time, Zachy Pickholz and I had a perfect Y-37 match and I was trying to get a handle on how my g-g-gf and his g-g-g-gf are related. FTDNA's TiP Report said that there was a ~93% chance of having a common ancestor six generations ago and I did not find that answer satisfying.

Bennett  responded:
[T]his is about as close a percentage as you can expect from [Y] DNA since mutations happen unpredictably.
[F]or example I am 36 of 37 with my own father, dad having passed a mutation to me that he did not pass to my brother.
In time, Zachy upgraded to Y-67 and we added a third line from Filip. We all matched perfectly at Y-67 even after 200+ years, so I was not going to spend much time worrying about mutation rates.

Aunt Becky and Aunt Mary
My great-grandparents, Hersch Pickholz and Jutte Leah Kwoczka had seven children who survived childhood.
The seven children in birth order

Aunt Becky and Aunt Mary, being the two older girls, were apparently close. They even crossed the ocean together, barely into their teens, to join Uncle Max. They were the two I never met. Aunt Becky died first, long before I was born and Aunt Mary, though she died last almost exactly forty-one years later, had moved to Florida before I was born. I knew the four brothers and I remember going to see Aunt Bessie before she died in 1953.

Uncle Max had no children. The other three brothers were in business together and their children were mostly the same age cohort - younger than the children of the three sisters - so I knew those cousins (both in my father's generation and in my own) well. And Uncle Joe and my grandfather married sisters. That is why I never knew my second cousin Roz, Aunt Becky's younger granddaughter, even though she lived in the neighborhood and was in my brother's high school class!

I had, however, developed a relationship with Aunt Mary's younger son Herb, though until recently we had met only once, when I was fourteen. When I started with DNA testing, my first priority was the older generation and I was comfortable asking Herb to do both a Family Finder and an MtDNA (Mitochondrial) test on his mother's line.

Herb's Mitochondrial DNA (MtDNA)
MtDNA is passed by the mother to all her children. Males have it but do not pass it on.

Mt great-grandmother, Jutte Leah Kwoczka, had two brothers, so only her descendants are useful for MtDNA in that line.

Aunt Becky and Aunt Bessie each had one son whose only daughters have since done Family Finder tests for our project. But their MtDNA would be their mothers' sides, so they would not help us here. Each of the aunts also had a daughter with one daughter each, but I am not in touch with either of them. One of those is Roz.

Herb's sister had no children.

So Herb is the only source we have for MtDNA in that line - my Kwoczka great-grandmother of Zalosce, my Pollak great-great-grandmother of Jezierna and my third-great-grandmother for whom all we have is a given name, Chaie Sara.

Herb initially did the lowest level MtDNA test and later I upgraded him to the full test.

He has no perfect matches. But as of nineteen months ago, he had thirty matches at a genetic distance of one.  That is, he and they are the same, but one mutation away. That number has grown from thirty to fifty-five but I shall continue referring to them as "the thirty."

It occurred to me then that if the thirty are one group, perhaps the mutation that Herb carries is fairly recent, since he has no exact matches. In MtDNA terms, that can be two or three hundred years ago or it could have originated as recently as Aunt Mary or my great-grandmother. But if it is recent, then I should treat the thirty as if they were exact matches to Herb, for the purpose of further inquiry.

I asked one of the thirty, someone I know who lives here in Israel, to check those matches and when he did not respond promptly, I asked another of the thirty - Dr. Richard Pavelle - who agreed immediately

Dr. Pavelle was a perfect match for the other twenty-nine, which means that our line broke away from theirs. (In theory, they could have broken away from us, but since they are thirty and we are one, that is highly improbable.) I confirmed that by looking at the actual mutations. Herb has one extra mutation: something called C6925Y.

Herb's mitochondrial mutations, representing my Kwoczka great-grandmother's maternal line

So I went to work on the thirty. First I looked at the Family Finder matches of those who had done that test. I didn't see any point in chasing after people who were remote matches or no match at all. There were only a handful of the thirty who were third-fifth cousins or closer to Herb. There was next to nothing coming from any of them in response. I also contacted the nine who had not done Family Finders - FTDNA was willing to offer them a special price. No takers.

The effort petered out, as expected. After all, there was a good possibility that our line had separated from theirs two hundred or more years ago, so what was the point. We didn't know enough to chase down relatives that far back anyway.

Yet in the back of my head was this nagging feeling that maybe our mutation was very recent. Really really recent. I could call Roz - still in the neighborhood - and have an awkward conversation which would end up costing me a few hundred dollars for nothing. Keep in mind, that in the last two years, I have become acutely aware of the importance of doing Family Finders for as many people as possible, so I'd have to have Roz do both tests.

I had spoken with Roz' cousin Rhoda - who had already tested - so I knew that Roz had no Internet or email, but Rhoda gave me her phone number.

Then FTDNA had their Mothers' Day sale with a package for MtDNA and Family Finder. I called Roz. She knew who I was, knew (from Rhoda, I suppose) that I was working on the family genealogy with the help of DNA and was only too happy to oblige.  I ordered the kit and promised to see her when I come to Pittsburgh for GRIP-July.

FTDNA's track record on getting results on time leaves much to be desired, but Roz' Family Finder results were nearly two weeks early. Roz' results were what I had expected and I have not had the time to look more deeply. I phoned Roz and set up to go to dinner the Monday of GRIP. And I wrote Rhoda.

I also redid the numbers for the Lazarus talk I am preparing for Seattle, to include Roz.

Roz' MtDNA results came in a few hours ago - also nearly two weeks early. She matches Herb at a genetic distance of one. She is a perfect match with the entire group of thirty - now fifty five. Herb's mutation is his and his alone. We cannot know if it was  created by my great-grandmother Jutte Leah or by Aunt Mary. In any case, it ends with Herb.

It looks like we have threaded the needle here and Roz' test was not money thrown away. What it does mean it is that the group of thirty could include some relatives close enough to make the effort worthwhile. We have pretty much pinpointed the MtDNA mutation. Now how do I use this to our advantage?

I'll see Debbie Parker Wayne soon enough - perhaps she'll have some tricks to suggest. I hope there will be a Part Three.

Housekeeping notes
Last call for ordering books in advance for Seattle.  I will have some with me, of course, but if you order now, you are guaranteed my having one signed for you.

Once again, my speaking schedule begins in Buffalo Grove Illinois next Thursday and is laid out in full here.

I submitted two proposals for RootsTech, to be held in Salt Lake City the second week in February. If that works out, I'll be available for speaking, probably with new material. Anyone interested, please drop me a note.

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