GENEALOGY-DNA-L Archives

From:
Subject: Re: [DNA] SMGF mtDNA results -- I match my grandmother,but not my mother?
Date: Tue, 1 Apr 2008 06:06:12 EDT

In a message dated 4/1/2008 2:31:04 AM Pacific Daylight Time,
writes:

> My mother's mtDNA results:
> 16126-C, 16362-C, 16482-G, 152-Y, 239-C, 263-G, 309.1-C, 309.2-C, 315.1-C
>
> The mtDNA results for my grandmother and myself (we are missing 152-Y):
> 16126-C, 16362-C, 16482-G, 239-C, 263-G, 303-409 not tested

That's very interesting. The "Y" is a code for a mixture of C and T, a
condition called "heteroplasmy." The Cambridge Reference Sequence has a T at the
position, and a mutation to C is quite common:

http://www.smgf.org/mtdna/common_mutations.jspx

If we could measure each mtDNA molecule separately, everyone would probably
show some level of heteroplasmy. However, standard techniques can only detect
it when it reaches a certain percentage in a pooled sample like the cells from
inside your cheek. I would bet that your grandmother and you wuold also be Y
if very sensitive techniques were used. I wrote an article "Now You See It, Now
You Don't" for the Journal of Genetic Genealogy, which has a diagram that
might make it clearer:

http://www.jogg.info/21/SatiableCuriosity.pdf

Ann Turner




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• [DNA] SMGF mtDNA results -- I match my grandmother,but not my mother? by "k s" <>

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