Selection and Common Monogenic Disease

Major environmental changes following the development of agriculture have had a profound effect on the human gene pool by means of adaptive responses to new ecological relationships. The frequent occurrence of serious inherited red cell diseases in many parts of the world as a direct result of chronic exposure to malaria is an example that probably has many parallels with other genetic and infectious diseases.

Keywords: haemoglobin; thalassaemia; malaria; infectious disease

Figure 1. Geographical distribution of some of the more common thalassaemia mutations. Regions where malaria is or was prevalent are shaded pink. IVS, intervening sequence, or intron.
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 References
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 Further Reading
    book Flint J, Harding RM, Boyce AJ and Clegg JB (1998) "Population genetics of the haemoglobinopathies". In: Baillière's Clinical Haematology Vol. 11, pp. 1–51.
    McLeod RE, Buschman E, Arbuckle LD and Skamene E (1995) Immunogenetics in the analysis of resistance to intracellular pathogens. Current Opinion in Immunology 7: 539–552.
    book Nesse RM and Williams GC (1998) "Evolution and the origins of disease". Scientific American (November): 58–65.
    book Weatherall DJ and Clegg JB (1981) The Thalassaemia Syndromes. Oxford: Blackwell Scientific Publications.
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Clegg, John(Apr 2001) Selection and Common Monogenic Disease. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002294]