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

被引:29
作者
Bar-Sade, RB
Theodor, L
Gak, E
Kruglikova, A
Hirsch-Yechezkel, G
Modan, B
Kuperstein, G
Seligsohn, U
Rechavi, G
Friedman, E [1 ]
机构
[1] Chaim Sheba Med Ctr, Genet Inst, Susanne Levy Oncogenet Unit, IL-52621 Tel Hashomer, Israel
[2] Chaim Sheba Med Ctr, Dept Pediat Hematooncol, IL-52621 Tel Hashomer, Israel
[3] Chaim Sheba Med Ctr, Dept Hematol, Inst Hematol, IL-52621 Tel Hashomer, Israel
[4] Chaim Sheba Med Ctr, Dept Clin Epidemiol, IL-52621 Tel Hashomer, Israel
关键词
BRCA1; gene; common haplotype; 185 delAG mutation; low-risk population; inherited predisposition;
D O I
10.1159/000484800
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
A predominant mutation within the BRCA1 predisposition gene, 185delAG, has been detected in about 1% of the Ashkenazi population, considered a highrisk 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.
引用
收藏
页码:413 / 416
页数:4
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