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Subject: detecting low frequency variants
Date: Thu, 24 Mar 2005 16:27:35 EST


This article is about a Standard Reference Material (SRM) for mitochondrial
DNA, which scientists can use to develop and test general techniques for
spotting rare SNPs in pooled samples. Mitochondrial DNA is a good source material
for this, since most cells in the body are automatically pooled sampes, with
thousands of copies of the mtDNA molecule per cell. Not every molecule will be
exactly identical, but the rare variants aren't be detected by standard
techniques.

http://www.eurekalert.org/pub_releases/2005-03/nios-wwd032405.php

If more sensitive techniques can be developed, they can be applied to SNP
discovery on autosomal and sex chromosomes -- just what we've been yearning for.
Maybe a few years down the road it will come to pass!

Ann Turner - GENEALOGY-DNA List Administrator
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