GENEALOGY-DNA-L Archives
Archiver > GENEALOGY-DNA > 2006-03 > 1142185883
From: "Eldon Wade" <>
Subject: RE: [DNA] RE: Uploading a complete mitochondrial sequence to NCBI GenBank
Date: Sun, 12 Mar 2006 12:51:23 -0500
In-Reply-To: <2fc.69ead0.3145a59b@aol.com>
Ann,
Assuming one's objective is to find related persons, is it not reasonable to
assume that if one has no matches currently with their mutations in HVR1 and
HVR2 that it is not practicable to upgrade to a full mtDNA sequence?
Eldon
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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