Polymorphically duplicated genes: their relevance to phenotypic variation in humans

被引：57

作者：

Buckland, PR ^{[1
]}

机构：

[1] Cardiff Univ, Dept Psychol Med, Cardiff CF14 4XN, S Glam, Wales

来源：

ANNALS OF MEDICINE | 2003年 / 35卷 / 05期

关键词：

gene dosage; gene duplication; genomic disorder;

D O I：

10.1080/07853890310001276

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A number of disorders are known to be caused by duplication of genes, but these are all rare events. However, there is evidence that polymorphic gene duplication may be common and a growing number of genes are known to be duplicated in a polymorphic manner although phenotypes cannot be associated with most of these. Gene duplication occurring due to cytogenetic abnormalities such as Down syndrome predisposes the patients to a variety of complex disorders. It is possible therefore that many complex disorders and variable phenotypes are associated with duplication of genes.

引用

页码：308 / 315

页数：8

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