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BALANCED POLYMORPHISM SELECTED BY GENETIC VERSUS INFECTIOUS HUMAN DISEASE* (2002)

Dean, Michael ; Carrington, Mary ; O'Brien, Stephen J.

Palo Alto, Calif. : Annual Reviews

Annual Review of Genomics and Human Genetics 3 (2002), S. 263-292

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ISSN: 1527-8204

Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff

Topics: Biology

Notes: Abstract 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1146/annurev.genom.3.022502.103149

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