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185delAG BRCA1基因突变会是一种古老的犹太基因突变吗?

Could the 185delAG BRCA1 mutation be an ancient Jewish mutation?

作者信息

Bar-Sade R B, Theodor L, Gak E, Kruglikova A, Hirsch-Yechezkel G, Modan B, Kuperstein G, Seligsohn U, Rechavi G, Friedman E

机构信息

Susanne Levy Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

出版信息

Eur J Hum Genet. 1997 Nov-Dec;5(6):413-6.

PMID:9450187
Abstract

A predominant mutation within the BRCA1 predisposition gene, 185delAG, has been detected in about 1% of the Ashkenazi population, considered a high-risk group for breast and ovarian cancers. We examined 639 unrelated healthy Jews of Iraqi extraction, a presumed low-risk group, for the existence of this mutation. Three individuals were identified as 185delAG mutation carriers, and haplotype analysis of the Iraqi mutation carriers revealed that 2 of the Iraqis shared a common haplotype with 6 Ashkenazi mutation carriers, and 1 had a haplotype which differed by a single marker. This study suggests that the BRCA1 185delAG mutation also occurs in populations considered at low-risk for breast and ovarian cancers, and that it might have occurred prior to the dispersion of the Jewish people in the Diaspora, at least at the time of Christ.

摘要

在BRCA1易感基因中,一种主要的突变类型,即185delAG,在约1%的德系犹太人中被检测到,该群体被认为是乳腺癌和卵巢癌的高危人群。我们检测了639名来自伊拉克的无血缘关系的健康犹太人,他们被认为是低风险群体,以确定该突变的存在。有三人被鉴定为185delAG突变携带者,对伊拉克突变携带者的单倍型分析显示,其中两名伊拉克人与六名德系犹太突变携带者共享一个共同单倍型,另一名的单倍型仅在一个标记上有所不同。这项研究表明,BRCA1 185delAG突变也存在于被认为是乳腺癌和卵巢癌低风险的人群中,并且它可能在犹太人散居之前就已出现,至少在基督时代就已存在。

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