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Archiver > GENEALOGY-DNA > 2007-07 > 1185744079


From: "Dora Smith" <>
Subject: Re: [DNA] Is H2a2 the same thing as H* - heteroplasmy?
Date: Sun, 29 Jul 2007 16:21:19 -0500
References: <BAY111-F101F82A055D9FF43E3725EF1ED0@phx.gbl>


Thanks! I suspected such a thing existed, because I realized that n is a
common symbol, but didn't know where to look.

Will do. I believe this is what his program spit out.

Question. Is it likely to be heteroplasmic along most of the path between H
and the CRS? Yipe! I don't think it's highly likely that the lab worker
was H2a2, I'm definitely who has no meaningful mutations elsewhere, and s/he
probably isn't who has mutations at 1164 and 4763. Grin. But we're
talking about the mtdna of someone who is H2a2 getting accidentally mixed
with that of someone who is H* - what is teh probability of being H*? If
they're both rare, than the probability of accidental crossing is lower.

When he looks at it he may easily see that there's a small amount of
contamination or something, but maybe the preliminary results have given me
the chance to ask for the full information. :)

Is it common to have heterplasmy at these locations? Did the CRS have
heteroplasmy too, or don't we know? Has to be a miracle the CRS evolved...

If that's the story, I guess I'll preliminarily keep on working on H2.

One other thing. Suppose that the true picture is

H
i
i
15326G
i
8860A
i
1438A
i
4769A
i
750A
i
i
CRS

That makes logical sense, I think. but, now, I'm the person who has to keep
turning the map which way I'm going. The phylogeny runs from the other
direction. If that is my haplotype, what is my clade designation?

Either way a sequence of mutations would have had to continue happening
before the previous steps were complete, but is it likely that the direction
of mutation actually moves from the CRS toward H? I expect that the CRS
evolved recently, but that doesn't mean that the mitochondria knew there was
a phylogenetic tree.

Yours,
Dora Smith
Austin, TX


----- Original Message -----
From: "William Hurst" <>
To: <>
Sent: Sunday, July 29, 2007 2:20 PM
Subject: Re: [DNA] Is H2a2 the same thing as ... H*?


>
> Dora wrote:
>
>>The thing is, though, that only one of them is specifically marked with
>>its
>>letter value. The other four markers are all marked "R" instead of with a
>>letter value. There are also two "M"'s, at places that don't correspond
>>to previously reported mutations, and I'm allowing that they could be
>>among
>>the aspects of the sequence that will eventually clear up as the output
>>becomes less preliminary. There's also an odd blank where there
>>shouldn't
>>be a mutation, that is different from the odd blanks that often appear
>>next
>>to the strings of n's that indicate missing data.
>>
>>
>>So here's what I actually have for the five markers.
>>
>>15326 G
>>8860 R
>>1438 R
>>4769 R
>>750 R
>
> The R should be the heteroplasmic code for combination of A and G, while M
> is for A and C. The complete list of the IUPAC codes is here:
> http://www.fbi.gov/hq/lab/fsc/backissu/april2003/swgdammitodna.htm
>
> I don't think I knew Argus was using these codes. RG uses them, FTDNA
> hasn't
> - except there was a recent report of them e-mailing someone to tell them
> they had the combination C/T at one position. All this might change when
> you
> get the Argus final report. Please let us know then.
>
> Bill Hurst
>
>
>
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