Beyond Mendel: An evolving view of human genetic disease transmission

被引：262

作者：

Badano, JL

Katsanis, N

机构：

[1] Johns Hopkins Univ, Inst Med Genet, Baltimore, MD 21287 USA

[2] Wilmer Eye Inst, Baltimore, MD 21287 USA

来源：

NATURE REVIEWS GENETICS | 2002年 / 3卷 / 10期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nrg910

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Methodological and conceptual advances in human genetics have led to the identification of an impressive number of human disease genes. This wealth of information has also revealed that the traditional distinction between Mendelian and complex disorders might sometimes be blurred. Genetic and mutational data on an increasing number of disorders have illustrated how phenotypic effects can result from the combined action of alleles in many genes. In this review, we discuss how an improved understanding of the genetic basis of multilocus inheritance is catalysing the transition from a segmented view of human genetic disease to a conceptual continuum between Mendelian and complex traits.

引用

页码：779 / 789

页数：11

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