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Stathoulisjp 30th June 2017 03:40 AM

Common maternal ancestor but different haplogroups
My MtDNA test result reports me as being haplogroup A with 8 HVR1 differences (from RSRS). I have 'No [HVR1] matches found at this level of testing' for (1) matches heading (2) ancestral origins heading (3) haplogroup origins heading.

A researcher has identified a possible maternal ancestor (call her Sara) and a 7 people (call them 1-7) who have proven maternal links to Sara. The researcher has pointed out that my haplogroup A differs from the haplogroup K reported by 1-7 and queried this with me.

Which is more likely? My haplogroup result is wrong and I am actually K not A? The researcher is wrong: I do not share Sara as a common ancestor with 1-7? Both my haplogroup A and my maternal link to Sara are correct; in other words is it possible for descendants from a common maternal line (i.e. my great great ... grandmother Sarah to belong to different haplogroups (A and K in this case)?

ltd-jean-pull 30th June 2017 04:15 AM

By "maternal" do you mean matrilineal or not?

Stathoulisjp 30th June 2017 08:25 AM

I meant matrilineal, apologies.

ltd-jean-pull 30th June 2017 05:41 PM

Sara can not be the matrilineal ancestor of both you and the other group of people. She can be the matrilineal ancestor of either you or them, or neither, but not both.

Stathoulisjp 1st July 2017 03:58 AM

Thank you!

Stathoulisjp 1st July 2017 06:27 AM

Some more data which I'd appreciate input on. My sequence is identical to theirs (the group of 7) with the following exception: my first sequence result is T16093Y whereas the group of 7 are either T16093Y or T16093C. Is it possible to share the sequence bar this one exception, yet not share the haplogroup?

My sequence (A haplogroup)
T16093Y, A16129G, T16187C, C16189T, T16223C, T16224C, G16230A, T16278C

Their sequence (K or K1a-T195C! haplogroup)
T16093C or T16093Y, A16129G, T16187C, C16189T, T16223C, T16224C, G16230A, T16278C
C146T, C152T, A247G, C497T, 522.1A, 522.2C, 315.1C, 522.3A, 522.4C

Emona 1st July 2017 09:18 AM

This is becoming interesting.

There is only HVR1 result for you. That is, only a small part of the mtdna molecule (the part called HVR1) was tested.

Sometimes, rarely, when there is only HVR1 result available, the mtdna haplogroup can indeed be assigned wrong.
Why? Because rarely, only HVR1 can be equal or similar in two different haplogroups. The difference is visible in more detailed result.

If this is what happened in your case, it would be possible that you are a K, and maybe even a matrilineal relative of the same Sara.

A more detailed test, that is, adding
-at least HVR2 (another part of mtdna molecule),
-or, in ideal case, the whole sequence (complete molecule), would show correct haplogroup without any doubt, and also more detailed, with sub-group.

Just a thought: as far as I can see, A is mostly AmericanNative/Asian. K is more European, but also West-Asian, and parts of Africa. How does this sound compared to your matrilineal ethnic background?

By the way, I am not a scientist. Can anyone please tell me what does T16093Y mean? I mean the "Y". Is this instead of D-deletion? No result-unknown? I only know of A/T/C/G substitutions, insertions (like .1A) and deletions (marked - or D).

Stathoulisjp 1st July 2017 10:47 AM

@ Emona, thank you. It makes sense that the limited test can produce erroneous haplogroup categorization.

It makes sense too that I should do a more detailed test to resolve the haplogroup inconsistency.

My matrilineal ethnic background is more likely to be K, with my maternal great-grandmother being a South African Afrikaner almost certainly of Dutch descent.

Ann Turner 1st July 2017 11:30 AM

Has it been a very long time since you received your mtDNA results? FTDNA implemented a "backbone" haplogroup test some years ago, which tests a SNP in the coding region to determine the top-level haplogroup. It should be able to distinguish between A and K. I'd suggest writing to the help desk and asking if the backbone test has been done.

Y is a special code for a mixture of C and T in your cells. This mixture is called heteroplasmy. Virtually everyone would have some heteroplasmy if we could look at every single cell individually, but it's only reported when it reaches a level of 20%. 16093 happens to be a hotspot for heteroplasmy.

Stathoulisjp 1st July 2017 12:25 PM

@ Ann, very useful thank you. My MtDNA results were completed in May 2012. I'll contact the help desk regarding the backbone test.

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