Identifying modifier genes of monogenic disease: strategies and difficulties

被引：96

作者：

Genin, Emmanuelle ^{[2
,3
,4
]}

Feingold, Josue ^{[2
,3
]}

Clerget-Darpoux, Francoise ^{[1
,2
,3
]}

机构：

[1] INSERM, U535, F-94817 Villejuif, France

[2] INSERM, UMR S535, F-94817 Villejuif, France

[3] Univ Paris Sud, F-94817 Villejuif, France

[4] Fondat Jean Dausset CEPH, INSERM, UMR S794, F-75010 Paris, France

来源：

HUMAN GENETICS | 2008年 / 124卷 / 04期

关键词：

D O I：

10.1007/s00439-008-0560-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Substantial clinical variability is observed in many Mendelian diseases, so that patients with the same mutation may develop a very severe form of disease, a mild form or show no symptoms at all. Among the factors that may explain these differences in disease expression are modifier genes. In this paper, we review the different strategies that can be used to identify modifier genes and explain their advantages and limitations. We focus mainly on the statistical aspects but illustrate our points with a variety of examples from the literature.

引用

页码：357 / 368

页数：12

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