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From: Charles <>
Subject: mtDNA position 16519
Date: Sat, 10 Apr 2004 22:49:31 -0400


All:

mtDNA SNP mutations are much, much less frequent compared to the usual
mutation frequencies we see with Y-DNA STRs. So I don't think we are
dealing with a mutation in the generation between David and his mother.
It could have happened, but I doubt it. I think there is another
explanation.

I have been writing to David off list as to what I think could be the
issue and explanation regarding the discrepancy at 16519 between him and
his mother.

I think the issue with 16519 for David Faux is possibly related to the
fact that FTDNA did not look for mutations in that range, i.e, at 16519,
in their very early mtDNA tests. My May 2001 certificate for my HVR1
test only covered the range of 16001 to 16400, i.e, 16519 was not
included and thus not reported back then. My only mutation reported back
then was in that earlier smaller range and was at 16162G. FTDNA later
expanded their HVR1 test range to go up to 16540. When they did that
they detected a mutation for me at 16519, i.e., 16519C. I ordered a new
test certificate in Nov 2003 which shows the larger range and the two
mutations, i.e. 16162G and 16519C. I believe David's mtDNA test at FTDNA
was an early one so his certificate probably does not show anything
about 16519. David was also mtDNA tested by OA which still doesn't test
for 16519, to my knowledge so the OA test and the very early FTDNA test
would have yielded the same results, i.e., no comment about 16519.

I know for me the mutation at 16519 (16519C) was also added to my
results in my online page at FTDNA at some point in time. I don't
remember exactly when. David should check what is displayed there for
him now, i.e., for his HVR1 mtDNA test, just in case he has an old
certificate and FTDNA has added the 16519C mutation for him to his HVR1
online results, but but did not issue a new certificate. I know I
requested a new one and got it. Or maybe FTDNA never updated his results
for the 16519 range.

Another possibility is lab or clerical error. If the above scenario is
not the cause of this "apparent mutation" between David's mom and him,
then I think FTDNA should re-run the mtDNA tests for David and his mom
side-by-side in the same batch to double check this surprising situation.

Of course a mtDNA SNP mutation can occur at any time but the are
relatively rare compared to the STR mutation variety we see in Y-DNA
testing of the Y chromosome.

I suggested that David contact FTDNA to review this "16519 not reported
for him" possibility with them further.

Charles




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