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Annu Rev Genomics Hum Genet. 2002;3:263-92. Epub 2002 Apr 15.

Balanced polymorphism selected by genetic versus infectious human disease.

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  • 1Laboratory of Genomic Diversity, Science Applications International Corporation, National Cancer Institute, Frederick, Maryland 21702-1201, USA.


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.

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