Archiver > GENEALOGY-DNA > 2002-04 > 1019703154

From: Brett Miller <>
Subject: Re: [DNA] Relative Genetics/ results
Date: Wed, 24 Apr 2002 19:52:47 -0700 (PDT)
In-Reply-To: <JCHBN.020424.133126.RC0@CUVMB.CC.COLUMBIA.EDU>

You have a valid point about DYS310. They dumped it
because it mutates way too much to be useful for
genealogy. I'll see if I get get any more detail on
what makes up that mutation rate.

Dr. Woodward is involved in many more studies than the
4-generation 100,000 person study. He has done
deep-family studies with well documented written
genealogy and then done the DNA tests to see what the
mutation rates are. He also has done lots of work on
mummy DNA (which is not really related to genealogy).

I'll see if I can get the lab to cough up any more

--- "John F. Chandler" <>
> Brett wrote:
> > This is an in-house number based on research...
> "In-house" research that has not been published is
> always suspect.
> The system of publishing results is not for the
> purpose of revealing
> interesting facts -- it also allows reviewers to
> shoot down obvious
> mistakes before publication and competitors to offer
> contrary evidence
> afterwards. Here is just one example of a possible
> mistake that could
> be affecting the "in-house" results: last year, the
> BYU studies
> included a marker they called "E5" and which has
> since been revealed
> to be the same as DYS310, which no other lab has
> used for genealogical
> tests. It was clear from the results (assuming that
> they were, in fact,
> correct) that the mutation rate for that marker is
> MUCH higher than for
> any of the others. In a study that included
> descendants of a single
> common ancestor, with 98 total meioses, there was no
> clear majority of
> any one allele among the descendants, and five
> different alleles turned
> up. Since we were not told the actual repeat counts
> for the arbitrary
> "scores" in the report, it is impossible for me to
> determine the actual
> number of mutations, but it had to be at least 6,
> and at least 2 of
> those had to be double, and 1 triple! Thus, the
> estimated mutation rate
> had to be at least 10% (+/- 3%). This is close to
> two orders of
> magnitude higher than the "standard" rate and is so
> high that it no
> longer qualifies as a "rare" event, which means that
> we should expect
> some of the supposedly unmutated alleles to be the
> result of multiple
> mutations that happen to cancel, thus driving the
> estimated rate even
> higher. If any of the DYS310 test results are
> included in the
> "in-house" figure, it is irrevocably tainted.
> Published results would
> be expected to provide details like which loci are
> included.
> Note: Allan mentioned the BYU world-wide research
> project involving
> 4-generation pedigrees and a target of 100,000 blood
> samples. None
> of that project is relevant to determining the
> mutation rate, since
> they are NOT going after coordinated sampling from
> closely related
> individuals and NOT preserving names anyhow.
> John Chandler
> ==============================
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