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Archiver > 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
References: <FF2EEF6CDF004318B9F6C68F9BDE5EAC@SONYDESKTOP><5117ACE4986A47C09D0BB55459846E6C@IanPC>
In-Reply-To: <5117ACE4986A47C09D0BB55459846E6C@IanPC>


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
by myself.

Diana

> -----Original Message-----
> From: On Behalf Of Ian Logan
> Sent: Thursday, March 04, 2010 3:39 PM
> To:
> 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
> http://www.mitomap.org/MITOMAP/MutationsCodingControl
> 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 possibly out-of-date.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.
>
> Ian
> www.ianlogan.co.uk
>


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