与遗传性非息肉病性结直肠癌（HNPCC）相关的MSH2*1906G→C始祖突变可能于公元1440年至1715年之间起源于阿什肯纳兹犹太人群体。
The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.
作者信息
Sun S, Greenwood C M T, Thiffault I, Hamel N, Chong G, Foulkes W D
机构信息
Department of Statistics, University of Toronto, Ontario, Canada.
出版信息
J Med Genet. 2005 Oct;42(10):766-8. doi: 10.1136/jmg.2005.030999.
Abstract
The MSH2*1906G-->C mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The mutation was only found among Ashkenazi Jewish individuals and lies on an extended haplotype that is common in that population. This study determined that the mutation probably arose between 11 and 22 generations ago, during the time when the Ashkenazim were living in eastern Europe.
摘要
MSH2*1906G-->C突变最近被证明是一种罕见但高度外显的导致结直肠癌的突变。该突变仅在德系犹太人个体中发现，位于该人群中常见的一个扩展单倍型上。这项研究确定该突变可能出现在11至22代之前，即德系犹太人生活在东欧的时期。
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