GENEALOGY-DNA-L Archives

Archiver > GENEALOGY-DNA > 2010-02 > 1265506908


From: William Hurst <>
Subject: Re: [DNA] odd mutation marker
Date: Sat, 6 Feb 2010 20:41:48 -0500
References: <50949.1265486350@connpoint.net>,<BAY133-W6307E4E222575B11C902AF1530@phx.gbl>,<4B6E0EA0.9080208@scs.uiuc.edu>
In-Reply-To: <4B6E0EA0.9080208@scs.uiuc.edu>


Hi Doug and Cornelia,

On Mitosearch, both plus one and minus one matches are shown. So it's a matter of looking at all the close matches which only differ at 16093. You don't have to change your input. Also, nobody's listed with 16093T; that's the CRS variant, so it doesn't appear at all.

Bill Hurst

Doug wrote:

> William Hurst wrote:
> > Hi Cornelia and all,
> >
> > You have a heteroplasmy at 16093. That means your mtDNA has a combination of the Cambridge
> > Reference Sequence's T variant and the normal mutation's C variant. FTDNA only calls a
> > heteroplasmy if each variant is at least 30% of the DNA. "Y" is simply the code for the
> > combination of C and T. 16093 is the most heteroplasmic position in HVR1. You might also see
> > 16093N, where the "N" means a heteroplasmy of undetermined variants. In reality, those are older
> > sequences before FTDNA started assigning the codes; so in this case it's the same as "Y." See the
> > FTDNA FAQ at: https://www.familytreedna.com/faq/answers/10.aspx
> >
> > For Mitosearch, just ignore the 16093 position; you are about equally as likely to be related to
> > someone with or without 16093C.
> >
> I don't think ignoring it is correct: you should try both variants (i.e. not listing it
> as a mutation, and listing it as a T). If you don't try list it as a T, you may miss
> peoplw who are T and have too many other mutations.
>
> Doug McDonald



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