Biology Faculty Articles

Balanced Polymorphism Selected by Genetic Versus Infectious Human Disease

ORCID

0000-0001-7353-8301

ResearcherID

N-1726-2015

Document Type

Article

Publication Title

Annual Review of Genomics and Human Genetics

ISSN

1527-8204

Publication Date

9-2002

Keywords

Infection, HIV-1, HLA, Chemokine receptors

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.

Volume

3

Issue

1

First Page

263

Last Page

292

Comments

©2002 Annual Reviews

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