Celtic origin of the C282Y mutation of hemochromatosis

被引：60

作者：

Lucotte, G

机构：

[1] Hop Maison Blanche, Serv Neurol, Mol Neurogenet Lab, F-51092 Reims, France

[2] Int Inst Anthropol, Paris 15, France

[3] European Lab Screening, Paris 12, France

来源：

BLOOD CELLS MOLECULES AND DISEASES | 1998年 / 24卷 / 20期

关键词：

hereditary hemochromatosis; C282Y mutation; Celtic origin;

D O I：

10.1006/bcmd.1998.0212

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The C282Y mutation in the HFE gene is the main mutation causing hemochromatosis, and C282Y frequencies have been reported for various European populations. The aim of this review is to compile the Y allele frequencies of the C282Y mutation for twenty European populations, The most elevated value (6.88%) is observed in residual Celtic populations in UK and France, in accordance to the hypothesis of Simon et al, concerning a Celtic origin of the hereditary hemochromatosis mutation. (C) 1998 Academic Press.

引用

页码：433 / 438

页数：6

共 30 条

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