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From: "Alister John Marsh" <>
Subject: "NO DATA" ON DYS463
Date: Sun, 23 Oct 2005 13:45:32 +1300


NO DATA 463:

I have been making some progress in my investigation of the missing 463. I
found one 24 marker R1b haplotype, (I call this ND463B) which when searching
for matches up to 2 mutations away, produced 46% of 97 results with no data
for DYS463. I used the 24 markers in common between a Marchant and a
Smoothy on the Sorenson database. Both the Marchant and the Smoothy, with
463 missing, had the unusual DYS385a,b of 9,14, but most of the matching
group did not share that marker score for 385. The distinctive marker 385
however enabled the core markers of a possibly related grouping to be
isolated, assuming the Marchant and Smoothy line split shortly after the
9,14 mutation. The Marchant traced to Somerset, which is an area not
inconsistant with my England/ Ireland findings for missing 463.

For another R1b grouping (ND463A) mainly from Ireland, with some in England,
which has DYS459a,b as 8,9, I was finding in the range of 50% to 60% missing
463, when searching on 7 marker haplotypes, for exact matches. The 60% was
on only 10 exact matches, and the 50% was on 27 exact matches, so it is only
on small numbers.

My impression is that "if" a SNP is the cause of the missing 463 readings,
it might be quite an old SNP, which may have occurred in a person with a
haplotype rather like AMH. From there, the SNP may be thinly dispursed
through the R1b population in Ireland and England. Because it may be old,
thinly spread, starting from near AMH markers, it is hard to isolate it with
a distinctive haplotype search, except in cases where branches have recently
acquired distinctive markers, such as DYD559a,b of 8,9, which enables
isolating pockets where missing 463 seems more common. The opposite
applies, where the "Irish" variety of R1b described by Ken and others, which
has distinctive markers, enables isolating a related pocket of R1b which
definitely does not have the missing 463 phenomenum. Ken said in 152
samples of the Irish type he referred to, he found 1 missing 463, ie 0.6%.
In the pockets I was finding, I was finding up to 100 times more missing
463.

It could not be discounted that there is more than one SNP involved, and
perhaps what I call ND463A and DN463B, could be cases of different SNPs.
However, it seems that if a SNP caused 46% of 97 haplotypes be be missing
463, and included hapotypes with 12 mutations difference on 36 markers, that
alone would be a case of a fairly old SNP, and not just a recent "family"
SNP.

If in Kens sample of 159 he found 0.6% missing 463, and in ND463B group I
found 46% of 97 missing 463, I think it suggests a SNP is the cause of
missing 463, rather than just a random distribution of testing errors. I
also contend that some primers give readings, and some do not, meaning that
in ND463B, some primers failed to give a result in 46% of cases, but in the
cases giving results, it is possible different primers were used, and the
SNP may well be present. If a SNP exists in the DYS463B group, it may well
involve more than 46%.

As time allows, I will continue to try and find out more about the missing
463. I have in mind some ways of probing away at the problem. It would be
rather interesting if there was an old SNP behind this, primarily England/
Ireland based. It might give some interesting insights into the early
settlement of the British Isles, and survivals of indigenous groups in areas
in the face of later "invasions" etc.

John.


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