Balanced polymorphism selected by genetic versus infectious human disease

被引：126

作者：

Dean, M ^{[1
]}

Carrington, M

O'Brien, SJ

机构：

[1] NCI, Sci Applicat Int Corp, Lab Genomic Divers, Frederick, MD 21702 USA

[2] NCI, Sci Applicat Int Corp, Intramural Res Support Program, Frederick, MD 21702 USA

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2002年 / 3卷

关键词：

infection; HIV-1; HLA; chemokine receptors;

D O I：

10.1146/annurev.genom.3.022502.103149

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The polymorphisms within the human genome include several functional variants that cause debilitating inherited diseases. An elevated frequency of some of these deleterious mutations can be explained by a beneficial effect that confers a selective advantage owing to disease resistance in carriers of such mutations during an infectious disease outbreak. We here review plausible examples of balanced functional. polymorphisms and their roles in the defense against pathogens. The genome organization of the chemokine receptor and HLA gene clusters and their influence on the HIV/AIDS epidemic provides compelling evidence for the interaction of infectious and genetic diseases in recent human history.

引用

页码：263 / 292

页数：32

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