Archiver > GENEALOGY-DNA > 2010-07 > 1280517357

From: Itzhak Epstein <>
Subject: Re: [DNA] HVR1 + HVR2 with a disappointing result
Date: Fri, 30 Jul 2010 15:15:57 -0400
References: <5331188.4076.1280474556613.JavaMail.www@wwinf1d02>
In-Reply-To: <5331188.4076.1280474556613.JavaMail.www@wwinf1d02>

Last night I sent a cousin the previous version of the message below to get
his feedback before posting it here.
While this thread is hot, I am posting it here without his input.
Please note that, in addition to Didier's correspondent's mutations we have
mutations at positions 217 and 16248.
After a night's sleep, I significantly revised the previous message.
Our Aunt's mtDNA results just arrived from FTDNA.
I looked at the mtDNA tree at [1] and
added my conclusions to FTDNA's report:
Position= 263 , CRS= A , Result= G , hg= H2a2a
Position= 217 , CRS= T , Result= C , hg= L31b1, or U5b1b2, or U2e1
Position= 16248 , CRS= C , Result= T , hg= N1a or X2b1
Position= 16519 , CRS= T , Result= C , highly recurrent mutation
Position= 315.1 , Result= C , highly recurrent mutation
Position= 309.1 , Result= C , highly recurrent mutation
Position= 309.2 , Result= C , highly recurrent mutation?
The highly recurrent mutations were too trivial to be noted on the tree so I
ignored them here. If I am to go by the mutation at position 217 then her
haplogroup is either L31b1, U2e1, or U5b1b2. If I am to go by the mutation
at position 16248 then her haplogroup is either N1a or X2b1. However, since
none of the HVR mutations between the rCRS and these nodes(?) appears on our
report, I discount these haplogroup designations in our situation. Still,
FTDNA tells us that her haplogroup is "H", probably on the basis of the
mutation at position 263. I am not, to say the least, persuaded.
We might order an FGS test for her.
We will soon put her markers on MitoSearch.
Why does FTDNA tell us that her haplogroup is H, instead of telling us that
they do not know?
Had hgs H and V never been designated, would FTDNA place our aunt at
whatever hg HV, for instance, would be called?
Why not H2a2a?
Since R0 has a mutation in the HVR, it and anything upstream from it are
presumed to be disqualified, but why not HV?
Where can we mortals find the directions to deciphering these guesses?
At 03:22 AM 7/30/2010, Didier wrote:

On the french part of DNA-forums we had a communication from a Newbie
disappointed by the outcome of a recent HVR1 + HVR2 result (mtDNA
analysis). Here are these results :
HVR1 : 16519C
HVR2 : 263G , 309.1C , 309.2C , 315.1C
The only conclusion is H haplogroup with no geographical localisation.
I wasn't aware until then that the situation could be so bad for those
falling in the "heart" of mtDNA H haplogroup.
Any comments ?

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Itzhak Epstein New York, NY
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