Archiver > GENEALOGY-DNA > 2006-11 > 1163956008

Subject: Re: [DNA] mtDNA Haplogroup C exact HVR1 match.
Date: Sun, 19 Nov 2006 12:06:48 EST

In a message dated 11/19/2006 6:11:03 AM Pacific Standard Time,

> And, wandering off here a bit, if we tested the full sequence mtDNA
> (16500 base pairs) then a 16500/16500 match would be 3 generations (90
> years) at 95% probability. So testing the full sequence could be *very
> important* and informative and necessary.

The mutation rate for the coding region will be lower than for the
hypervariable region, but how much lower is anyone's guess at this point. For the time
being, FTDNA is calculating 5 generations at 50% and 16 generations at 90%
probability for a perfect match. There is very little data from pedigree studies
for the coding region, and the situation for the coding region is only a little
better (a total of 26 mutations observed!).

This article has a meta-analysis of various smaller studies. The .00001 rate
I use is the average of those studies; the .00003 rate you mentioned is
included, but it was found in a study on famillies with a mitochondrial disorder, so
it might not be representative. Note the title: there is a controversy about
pedigree rates and phylogenetic rates for mtDNA, just like the one for Y-STRs.

Howell N, Smejkal CB, Mackey DA, Chinnery PF, Turnbull DM, Herrnstadt C

The pedigree rate of sequence divergence in the human mitochondrial genome:
there is a difference between phylogenetic and pedigree rates.

Am J Hum Genet. 2003 Mar;72(3):659-70

I'm giving the link to the listing at PubMed in case you want to look at
"Related Articles" etc. The PubMed abstract also has a link to the journal site,
where you can download full text.

Even if the mutation rate for the coding region is lower, you are testing 14
times as many bases as HVR1/HVR2, so that's fertile ground for finding your
closest connections.

Ann Turner

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