Copy-number variations associated with neuropsychiatric conditions

被引：445

作者：

Cook, Edwin H., Jr. ^{[3
]}

Scherer, Stephen W. ^{[1
,2
]}

机构：

[1] Hosp Sick Children, Ctr Appl Genom, Toronto Med Discovery Tower MaRS Discovery Dist, Toronto, ON M5G 1L7, Canada

[2] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada

[3] Univ Illinois, Inst Juvenile Res, Dept Psychiat, Chicago, IL 60608 USA

来源：

NATURE | 2008年 / 455卷 / 7215期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nature07458

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to genetic alterations, but identifying the genes responsible has proved challenging. Microarray experiments have now revealed abundant copy- number variation - a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged - in the human population. Genes affected by copy- number variation are good candidates for research into disease susceptibility. The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy- number variants and the genes that they affect needs to be considered in an integrated context.

引用

页码：919 / 923

页数：5

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