Archiver > GENEALOGY-DNA > 2010-02 > 1267025278

From: William Hurst <>
Subject: Re: [DNA] mtDNA X1 in Eastern Europe
Date: Wed, 24 Feb 2010 10:27:58 -0500
References: <008801cab4f3$a484a710$ed8df530$@org>
In-Reply-To: <008801cab4f3$a484a710$ed8df530$@org>

Hi Lawrence and all,

Original edited:

> 16183C,16185T,16189C,16223T,16266T,16274A,16278T,16390A
> 73G,146C,152C,195C,263G,309.1C,315.1C
> (known X2b, Ashkenazi, plus 2 more who match HVR1+HVR2)
> 16183C,16189C,16223T,16278T,16519C
> 73G,146C,153G,195C,198T,225A,226C,263G,309.1C,315.1C
> (Ashkenazi unlikely)
> 16183C,16189C,16223T,16266T,16274A,16278T,16390A,16519C
> 73G,146C,152C,195C,263G,315.1C
> So perhaps we are to conclude that:
> 2) Control-region mutations on the official phylotree for X should be
> ignored.

That conclusion is too broad, in my opinion. I know nothing about haplogroup X, but highly recurrent control-region (HVR) mutations such as 146C, 152C and 195C have multiple roles in haplogroup K and probable other subclades. In some places they are very good at defining subclades; in other places they are just random. And almost any mtDNA mutation, control- or coding-region, is subject to back mutation. But there are many extremely useful and reliable control-region mutations. If a K has 16T, 497T, 498-, 512C, 16048A, 16320T, 16234T, 16245T, 16319A, 16524G, etc., I can usually predict his subclade. If you have one particular combination of three recurrent HVR1 mutations, I can reliably say that your ancestors were from Iberia.

So, please don't ignore HVR mutations. Study them instead.

Bill Hurst

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