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Archiver > GENEALOGY-DNA > 2007-02 > 1170707802


From: Vincent Vizachero <>
Subject: Re: [DNA] DYS390m ?
Date: Mon, 5 Feb 2007 15:36:42 -0500
References: <001101c74945$331406b0$647ba8c0@thinkerone><000901c74949$82f011c0$6400a8c0@Ken1>
In-Reply-To: <000901c74949$82f011c0$6400a8c0@Ken1>


In almost all populations, DYS390m, DYS390p, and DYS390q are
justifiably considered invariant.

DYS390m (aka DYS390.1) typically has 8 repeats of CTGT
DYS390n (aka DYS390.2) contains a variable number of CTAT
DYS390p (aka DYS390.3) contains a single repeat of CTGT
DYS390q (aka DYS390.4) typically has 4 repeats of CTAT

In some populations (e.g. an Australian subclade of haplogroup C),
DYS390 seems to have suffered a single 4 repeat deletion at DYS390m.

In other populations (e.g. a Papauan subclade of haplogroup C) there
has been a complete deletion of DYS390p. In this case, since DYS390n
and DYS390q are both CTAT repeat segments, DYS390n and DYS390q are
considered to be "collapsed". DYS390q is reported with a count of 0.

In either of these cases, the final result is that the total allele
for DYS390 is often less than 21. However, it is possible for
DYS390m or DYS390p deletions to occur in people for whom DYS390>21.
You would not know for sure unless you had the entire DYS390 marker
sequenced. I am hopeful that Thomas Krahn at FTDNA will soon offer
such a service.

There is a subclade of R1b1b that routinely exhibits DYS390<21 due to
a deletion of DYS390.3/DYS390p and I seem to recall seeing a small
group of I1b in Scotland with DYS390<21 as well.

Deletions at DYS390m and DYS390p are rare enough that they can be
considered UEPs and can legitimately define a subclade IF the actual
structure of DYS390 has been demonstrated by direct sequencing.

Vince



On Feb 5, 2007, at 11:17 AM, Ken Nordtvedt wrote:

>
> ----- Original Message -----
> From: "Robert Tarín" <>
>
> They also stated DYS390m and -p
>> segments discriminate Asians, Papuans, and Australians from each
>> other and
>> from Whites and Africans. They further state that the value of the
>> four
>> DYS390 segments has been neglected, probably because of ascertainment
>> bias:
>> in Whites, all segments but DYS390n are invariant. Maybe the various
>> testing
>> companies should make note of this and start segmenting these marker
>> results. It could be very useful for analyzing population
>> differences.
>> Hopefully they are reading this.
>
>
> What the heck is "ascertainment bias"?
>
> Wait, how could all segments of DYS390 be invariant except 390n,
> when a
> chart shows the highest mutation rate at 390m? I believe I saw
> mutations at
> both "m" and "n" and shall look again to make sure.
>
> Ken
>
>
>
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