GENEALOGY-DNA-L Archives
Archiver > GENEALOGY-DNA > 2007-07 > 1183333144
From:
Subject: Re: [DNA] Mtdna SNPs?
Date: Sun, 1 Jul 2007 19:39:04 EDT
John McEwan said
> <snip>
>Typically >90% of base changes that alter an
>amino acid in a coding region are detrimental and
>selected against. Hence we observe less *variability*
>in mitochondrial protein coding regions..........
---
So, if any of you had one of these base changes that was
unusual enough to be of uncertain behavior and you were
considering the possibility that it could eventually be
determined to be a detrimental alteration in amino acid, would
you be likely to admit freely to having it on the Internet? Would
you just discuss your results with a project administrator, and nobody
else except with perhaps a close family member? Would you have
your full genomic sequence posted anonymously and never
discuss it online? Would you just observe cautiously until
many other healthy people had this mutation? How many?
I admit, I live dangerously. Six non-closely-related people is
enough for me, especially if they are not all exact matches, meaning
that the mutation has been around awhile.
What if you admit to it, then your relatives who inherited the same
mtDNA object and demand to have it removed from as many postings
as possible? Do you ever worry about your relatives' comfort levels?
Another possibility to ponder: what if you already had HVR "junk
DNA" results posted, then a particular coding region detrimental
mutation is discovered that turns out to be one of those
sub-clade defining SNPs and is almost always associated
with your particular set of markers? Would you then be worried
about what people could possibly infer about your health even
if you never posted your coding region? I guess you could always
say you are the exception because of homoplasy. Handy excuse
if you keep it a secret.
If indeed, the number is > 90% of these mutations are detrimental
amino acid base changes, then it seems that scientists should be looking
at as many full sequences on archaeological remains as possible to see
which mutations died out and which ones were selected for within
the last few millennia. How easy is it to get full sequences on ancient
remains with the today's technology?
Kathy J.
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