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Archiver > GENEALOGY-DNA > 2007-03 > 1174529896


From:
Subject: Re: [DNA] Medical and insurance implications of Y chromosome andmtDNA testing
Date: Wed, 21 Mar 2007 22:18:16 EDT


In a message dated 3/21/2007 9:28:05 AM Pacific Daylight Time,
writes:

> The only medical issue I know about with the Y chromosome test is that is
> could reveal infertility. Please let me know the odds that a Y DNA test will
> indicate infertility (about 1 in 2,000?).
>
> What are the odds that (HVR1 and HVR2) results from an mtDNA test will
> indicate a possible medical issue? What are some of those CRS differences and
> what medical issues do they indicate?

The frequency of the big deletion causing infertility was estimated to be 1
in 4000. That's a projection, based on the percentage of infertility cases that
have that particular causation and the percentage of the general population
that attend fertility clinics.

http://jmg.bmjjournals.com/cgi/pmidlookup?view=long&pmid=15805164

I seem to recall anecdotal reports from FTDNA that the frequency is even
lower in their database. The FTDNA database could be biased in favor of men who
already have children and are motivated to learn more about their ancestry in
order to pass it on to the next generation.

MitoMap has a catalog of mutations associated with medical disorders. There
are no confirmed mutations in the hypervariable regions. There's one
"provisional" mutation, which happens to be very common (16189C). It seems like the
articles I read on the topic alternate between finding and failing to find an
association with obesity/diabetes, so if a causal link exists it must be very
weak.

Ann Turner


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