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Archiver > GENEALOGY-DNA > 2006-03 > 1142180763
From:
Subject: Re: [DNA] RE: Uploading a complete mitochondrial sequence to NCBI GenBank
Date: Sun, 12 Mar 2006 11:26:03 EST
In a message dated 03/12/06 7:37:30 AM Pacific Standard Time,
writes:
> At the Family Tree DNA conference last November, a presenter shared that
> the
> MEGA mtDNA test is the equivalent (for genealogical purposes) to the Y-DNA
> 37-marker test. I will have to wait for the time that the MEGA test is in
> the same price range as the 37-marker test before I can take the test
> myself, but I truly do hope that other MEGA testers will follow your example
>
> and upload their results to NCBI. As the database builds, we may finally be
>
> able to utilize the database for those long lost female line paper trails in
>
> much the same way we currently do with the publicly accessible
> Y-DNA databases.
>
> My deepest thanks and gratitude to you for being a visionary and pioneer.
I heartily second your thanks to Ted for taking the initiative to learn the
GenBank requirements. I have often said that genetic genealogists are an
untapped resource for the scientific community, and this is a good illustration of
how the two domains could be integrated.
However, I'd like to throw in a cautionary word about the FTDNA conference
slide re the equivalence of a full mtDNA sequence and a 37-marker Y test. As I
understand it, it was an off-the-cuff calculation, and it assumed that the
mutation rate for the HVR (based on data from pedigree studies) could be applied
across the board to the whole coding region. I'm in the midst of writing a
review of the literature on mutation rates, and I have deep reservations about
that assumption. In fact, I am developing some doubts about the mutation rate we
use for the HVR! I don't have any alternative proposals at the moment, but I
would not order the full sequence mtDNA test based on the notion that it is
comparable to a 37 marker test in regards to calculating the TMRCA.
On the flip side, I have been writing custom reports for people who have
obtained their full sequences, and it's abundantly clear to me that we've barely
scratched the tip of the iceberg in regards to haplotype diversity -- the
number of different sequences that can arise even with a very low mutation rate
when it is applied to 16,569 markers. A full mtDNA sequence would certainly
eliminate a lot of "false positive" matches. Ted is a good example of this -- I'm
sure he has an abundance of HVR matches, but he has no matches at all with his
complete sequence.
Ann Turner
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