GENEALOGY-DNA-L ArchivesArchiver > GENEALOGY-DNA > 2004-12 > 1102538878
From: "Daniel Jenkins" <>
Subject: Re: [DNA] R* haplogroup
Date: Wed, 08 Dec 2004 15:47:58 -0500
Dear Ellen ,
I found in the studies of DeJuan et Al 2001, a reference that 29.70 % of
Basques in the study had the H63D polymorphism. Although the population in
general did not have hemochromotosis. You can see the info on studies by
typing in " hemochromotosis Basques " although I saw info on other sites
that I can't recall at the moment. The disease is caused by both mutations
, the C282Y being the usual. But 2 people with the H63D marrying would have
children very likely to develop the disease.
It is the polymorphism that I am referring to.
>From: ellen Levy <>
>Subject: Re: [DNA] R* haplogroup
>Date: Wed, 8 Dec 2004 08:51:47 -0800 (PST)
>We discussed Hemochromatosis on the list a few months
>The studies actually show that this disease, which is
>caused by the C2824 allele, is very, very rare in
>Basques. It is also rare in Italians and Ashkenazi
>Jews. Basically, there is a north to south decreasing
>cline of frequency in Europe for Hemochromatosis.
>So there isn't a connection through R1b with the
>Basque population regarding this disease.
>It is believed to be of "recent" Celtic origin and
>it's distribution throughout Europe (it occurs with
>great frequency among Scandinavian populations as
>well), including its distribution in English and
>Breton populations, indicates it was spread by the
>movement of Celtic tribes. It has been dated to about
>600 AD by Gerard Lucotte in his 1998 study of this
>disease. It's very low frequency among the French
>Basque was confirmed in a second 1998 study by G.
>Mercier in 1998.
>Hope this information is of some help.
>--- Daniel Jenkins <> wrote:
> > Joe , Ken, and others,
> > Joe did a look at chart on Capelli site and noted
> > that I match at the six
> > markers with several others at wide spread area of
> > British Isles including
> > Shetland , Channel Isles, Norfolk, and some I can't
> > identify as I only saw
> > chart and no descriptive. The other places are NG/D,
> > CH/p, and PNT, BRK.
> > Maybe you can identify them. What is the basis for
> > Capelli using the
> > specific 6 DYS markers. I noted various tests as the
> > Russian used a
> > different set. Thanks for the Hazel info. , will
> > check. As a note I checked
> > on my results regarding my haemochromotosis. I am
> > Heterozygous for the H63D
> > mutation in the HFE gene. I did 2 years of
> > phlebotomies [ about 20] but in
> > the past year have remained in normal range 26-83
> > but it is growing slowly.
> > In 2001 Iwas at 660. The Doctor states that I am
> > only a carrier. The point
> > is that it is a known Celtic and white Europpean
> > disease. Curiously many in
> > the Basque population, have this same polymorphism
> > and they are, I
> > understand, R1b . The H63D mutation is due to a C-G
> > transversion at
> > nucleotide position 187 and is considered a
> > polymorphism rather tha a
> > mutation. Does this shed any light on my possible
> > haplogroup and has the
> > general date been found for this change. It must be
> > quite ancient as the
> > disease is a result of the body not needing to store
> > iron in case of
> > prolonged period of starvation.
> > Dan Jenkins
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|Re: [DNA] R* haplogroup by "Daniel Jenkins" <>|