Archiver > GENEALOGY-DNA > 2006-11 > 1163510938

Subject: Re: [DNA] Question about mitochondrial birth defects
Date: Tue, 14 Nov 2006 08:28:58 EST

In a message dated 11/13/2006 9:39:50 PM Pacific Standard Time,

> I wonder if all known current risks are entered into a data base such
> as the one at Washington University:
> _

There's a more extensive list at MitoMap, so extensive that it even includes
very speculative single-case reports where the mutation turns out to be a
benign coincidental variation.

Many coding region mutations are synonymous (the 3-base codon codes for the
same amino acid) or conservative (the 3-base codon codes for a amino acid with
very similar properties, such as size and electric charge). Bandelt in
particular has been very critical of medical geneticists who don't place mutations in
a phylogenetic context or consider population structure -- you can search
PubMed or our archives for <Bandelt> to see abstracts I've posted from her.

For an example of how population structure might affect conclusions, see
Achilli's paper. It shows how an apparent "association" of deafness with
haplogroup H3 in Spain is due to a founder effect in a woman who just happened to be
H3. This association would fade away if H3 samples from other populations were

Ann Turner

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