Sunday, December 14, 2014

Herb's MtDNA

 Part 1 (I hope there will be a Part 2)

Herb is my father's first cousin, as I have mentioned here before on many occasions. Aunt Betty is my only known relative who tested before him.

He was born and raised in Pittsburgh, like the rest of my father's cousins, but they moved to Florida several years before I was born. The only time I had met him was when he came to Pittsburgh when I was fourteen. But we have had an email relationship for some years and I was comfortable asking him to do both a Family Finder and an MtDNA (Mitochondrial) test on his mother's line. We met again last year, when I went to Florida for the purpose of seeing him.

MtDNA is passed by the mother to all her children. Males 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.

My grandfather had three sisters, Becky, Mary and Bessie. Aunt Becky and Aunt Bessie each had a one son whose only daughters have 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.

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 I upgraded him to the full test last spring.

He has no perfect matches. But he has thirty matches at a genetic distance of one.  That is, he and they are the same, but one mutation away.

So last week, I posted this question on the International Society of Genetic Genealogists group on Facebook.

There was quite a bit of discussion, particularly with Elise Friedman, one of the public faces of FamilyTreeDNA.

It is indeed possible that the thirty may not all match, but which may be two groups and we are one mutation away from both.

And if the thirty are one group, I am thinking that the mutation that Herb carries may be 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. (Identifying that was the suggestion of Debbie Parker Wayne, one of my teachers at GRIP.)
Herb's mitochondrial mutations, representing my Kwoczka great-grandmother's maternal line

 Angie Bush - with the concurrence of Blaine Bettinger, another of my teachers - wrote:

There is no special significance to that mutation. Your cousin just appears to have a heteroplasmic mutation at that spot.
the Y in the C6925Y means that some of the mitochondria in the cells that were tested have a C at position 6925 and some of them have a T at position 6925.
So having determined that our line is part of the line of the thirty (both are classified as haplogroup V7a), I proceeded to look further at who the thirty are and how they might match us in "genealogical time."

Of the thirty, twenty also did Family Finder tests. So for now, I am ignoring the other ten, since they do not seem to have an active interest in research. Of the twenty remaining, eight (including Dr. Pavelle) are not close enough to be considered an autosomal match by FTDNA. That leaves twelve, but two of those are identical, so we have eleven.

Of the eleven, four are "third cousin-fifth cousin," five are "fourth cousin-remote cousin" and two are "fifth cousin-remote cousin." I decided to concentrate on the first group of four, at least for now. All four are women.

First I did a chromosome browser to see if any of them appear closely related to one another.
I omited those chromosomes where no one matches Herb

There isn't much here. Number 3 has a small match with number 1 on chromosome 11. Number 3 also has a small match with number 4 on chromosome 15.

So I wrote to all four - together, in a single email - introducing myself and my family, asking what they knew about their families, etc. I also asked if they were on GEDmatch.

So far - it's been less than a week - I received a reply only from number 2, who asked me to tell her how to upload her data to GEDmatch.

(I am fully aware, of course, that these women may match Herb is some way - or ways - other than the joint maternal line. But I am going with what I have.)

This is only my second real look at MtDNA data. The first was on my own test last spring. My other two great-grandmothers are also covered. Aunt Betty did one for my father's maternal grandmother's Stern line from Kalocsa Hungary and the results are meagre. My second cousin Ruth did one for my mother's paternal grandmother's Kugel line from Pleshchenitsy Belarus, which is not much better.

At least Herb's results are interesting. I hope I will have enough to say for a Part 2.

Housekeeping notes
We have one new Family Finder ordered from the Pikholz family, a third cousin of Lloyd.

I just learned that one of those I have been after died last month. He is the last of his generation in that family. Maybe I can get his son instead. I take what I can get.

I also upgraded two more Y-12 tests to Y-37, one on the Rozdol Pikholz side and one Kwoczka.


  1. I hope there will be a Part II also. I always like reading about the research you are doing on your family.

  2. I hope the developments warrant it.,

  3. My husband is V7a and most of his matches are Jewish. His most distant maternal ancestor arrived in USA 1887 from we have no idea. On census she said Poland, Germany and even Sweden. She appeared to be Lutheran but her maiden name was Radsinski, Radzimska. I can't find any records of her in Europe. We thinks either she or her mother may have been Jewish. He is at FTDNA. Under Esposito/Kledzik