GENEALOGY-DNA-L ArchivesArchiver > GENEALOGY-DNA > 2009-01 > 1231114076
Subject: Re: [DNA] mtDNA sequences from Tunisian centenarians ! -implications
Date: Sun, 4 Jan 2009 19:07:56 EST
In a message dated 1/4/2009 3:35:59 PM Pacific Standard Time,
> This is frequent in mtDNA H. An adopted cousin had HVR1+HVR2 that matched
> members of H1, H7, and H16. We ordered the mt-H test (when it was still
> available), and the result was H3. His control region has:
> 152C 263G 309.1C 309.2C 315.1C
That's really a very non-specific result, since 16519C, 152C, and 309 are
"hotspots" and the other mutations are actually where the CRS has the rare value,
so almost everyone in the world has those.
"So we have to realize that at times, the Control Region may not mutate for
long periods of time, while mutations may be going on in the Coding Region."
I've certainly found that to be true during the course of writing custom
reports for FGS customers. About a year ago I pulled together some stats about
mutations in the coding region:
I haven't actually analyzed it, but my impression is that the trend continues
for the reports I did in 2008. Although the mutation rate per base may be
lower in the coding region, it is ~15 times larger. Many mutations are
"synonymous" (code for the same amino acid), so they are free to accumulate, just as
mutations in the HVR do.