Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany

被引：44

作者：

Jézéquel, P ^{[1
]}

Bargain, M ^{[1
]}

Lellouche, F ^{[1
]}

Geffroy, F ^{[1
]}

Dorval, I ^{[1
]}

机构：

[1] Ctr Hosp Laennec, Lab Biochem & Biol Mol, F-29107 Quimper, France

来源：

HUMAN GENETICS | 1998年 / 102卷 / 03期

关键词：

Allele Frequency; Gene Mutation; Local Population; Carrier Frequency; Western Region;

D O I：

10.1007/s004390050701

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary hemochromatosis (HH) gene mutations, C282Y and H63D, have been screened in a cohort of 254 presumably healthy persons originating from a western region of France. The carrier frequencies of these mutations and the incidence of HH have been estimated and compared with those of other studies, This cohort contains two C282Y/C282Y genotypes and has the highest C282Y heterozygosity frequency (17.46%) ever reported.

引用

页码：332 / 333

页数：2

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