GENEALOGY-DNA-L ArchivesArchiver > GENEALOGY-DNA > 2007-07 > 1185386419
Subject: Re: [DNA] Is H5a a pathological subclade?
Date: Wed, 25 Jul 2007 14:00:19 EDT
>"We have investigated the frequency
>of this mutation in two community based
>elderly cohorts in Cambridgeshire, who
>have participated in longitudinal studies
>of cognitive function. The 4336 mitochondrial
>mutation was detected in 8/ 443 people examined.
>These people were found to be non-demented at
>ages 74, 81, 84, 86, 89, 90, 91, and 102 years,
>in contrast to the previously described cases
>whose onset of dementia occurred between 60
>and 76 years (mean 68). Accordingly, we believe
>that this mitochondrial variant is not a high
>penetrance mutation which predisposes to
>dementia before the age of 76 years."
Ann, funny you should mention Cambridgeshire since
this is the exact geographical location where
I hope to find our ancestors with the 4336 mutation.
Too bad I can't get extensive family trees on all
these non-demented seniors to see if there is some
ancient indigenous population carrying this gene.
Well, I was all set to report on the FGS of
my family member when I was struck by the
possible pathology. You can tell I am not
tooooo worried or I would not have brought up
the subject on this list. The coding region
turns out to be exactly as one would expect
with no private mutations for H5a1 so maybe
it is not worth reporting after all. Those
savvy people who are resourceful detectives
can figure it out if they want to.
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