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Archiver > GENEALOGY-DNA > 2010-03 > 1268466445


From: "Ian Logan" <>
Subject: Re: [DNA] CORRECTION mtDNA mutation T3398C - Is it good or bad ?
Date: Sat, 13 Mar 2010 07:47:26 -0000
References: <465A5524-50D3-456B-BA52-6F5F545803E2@mac.com>
In-Reply-To: <465A5524-50D3-456B-BA52-6F5F545803E2@mac.com>


Hello Pat

This is mitochondrial DNA - and it is not really a matter
of 'majority' and 'minority'.

But rather, the values as found in the Cambridge Reference Sequence (CRS)
and what is found in the sample.

By convention the CRS comes first - then the base number - then the test sample

So '3397' is 'A' and '3398' is 'T' in the CRS.

And the mutations will show as 'G' & 'C'

You say you have 'A' and 'T' - which are the CRS values.

Ian

--------------------------------------------------

Hi, Ian. Could you clarify please? I'm not sure how to read a
minority allele versus a majority allele for mitochondrial results.
In the mtDNA SNP reporting formats A3397G & T3398C, which base
indicates the majority allele & which the minority allele (first base
majority & 2nd base minority?). 23andMe reports both of these
positions. I have A & T - are these the majority alleles for those
positions?? Thanks,
Pat


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