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Balanced polymorphism selected by genetic versus infectious human disease

  1. Author:
    Dean, M.
    Carrington, M.
    O'Brien, S. J.

  2. Author Address

    NCI, Sci Applicat Int Corp, Lab Genomic Divers, Frederick, MD 21702 USA NCI, Sci Applicat Int Corp, Lab Genomic Divers, Frederick, MD 21702 USA NCI, Sci Applicat Int Corp, Intramural Res Support Program, Frederick, MD 21702 USA Dean M NCI, Sci Applicat Int Corp, Lab Genomic Divers, Frederick, MD 21702 USA
    1. Year: 2002
  2. Journal: Annual review of genomics and human genetics
    1. 3
    2. Pages: 263-292
  4. Type of Article: Review
  1. 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.

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