鉴定单基因疾病的修饰基因：策略与困难
Identifying modifier genes of monogenic disease: strategies and difficulties.
作者信息
Génin Emmanuelle, Feingold Josué, Clerget-Darpoux Françoise
机构信息
Inserm UMR-S535, 94817, Villejuif, France.
出版信息
Hum Genet. 2008 Nov;124(4):357-68. doi: 10.1007/s00439-008-0560-2. Epub 2008 Sep 11.
Abstract
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.
摘要
在许多孟德尔疾病中都观察到了显著的临床变异性，以至于具有相同突变的患者可能会发展出非常严重的疾病形式、轻度形式或根本没有症状。在可能解释这些疾病表现差异的因素中，修饰基因是其中之一。在本文中，我们回顾了可用于识别修饰基因的不同策略，并解释了它们的优缺点。我们主要关注统计学方面，但会用文献中的各种例子来说明我们的观点。
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