GENEALOGY-DNA-L ArchivesArchiver > GENEALOGY-DNA > 2010-03 > 1267736481
From: "Diana Gale Matthiesen" <>
Subject: Re: [DNA] mtDNA Coding Region Concern
Date: Thu, 4 Mar 2010 16:01:21 -0500
I can certainly endorse Ian as having painlessly walked me through the daunting
process of getting my results uploaded to GenBank. I could *not* have done it
> -----Original Message-----
> From: On Behalf Of Ian Logan
> Sent: Thursday, March 04, 2010 3:39 PM
> Subject: Re: [DNA] mtDNA Coding Region Concern
> Hello Rick & Other List Members
> This is always a interesting point - and well worth
> discussing once again.
> The simple answer remains: If all your mutations are
> 'common' then there is nothing to worry about.
> But if you have 'uncommon' mutations, especially if they are
> in the 'tRNA' sections, then a link to
> disease is possible.
> It is also important to consider the significance of
> 'heteroplasmy' - as this is now being reported
> by FTDNA.
> However, let me not overstate the risk:
> If you and your family are fit and well (i.e. not being
> followed for mitochondrial disease, or an
> unattributable disease)
> and, the tests are being done for genealogy, then the risk is
> VERY SLIGHT indeed.
> Should you want to look for disease-associations yourself; see
> But, be warned, the list is daunting, somewhat technical, and
> possibly out-of-date.
> However, if you want advice, then Ann Turner and myself are
> both available.
> Speaking just for myself, I am always happy to comment on the
> significance of mutations.
> And, if a submission file for GenBank is wanted, I am happy
> to make one.