Genetic Disease: Prevalence

Although monogenic diseases are considered to be rare, some are relatively frequent either in large parts of the world or in more delineated regions. Often the relative high frequency is limited to some subpopulations or even small communities. Various processes influence the prevalence of genetic diseases in the population, in particular, genetic heterogeneity, new mutations, selection, migration or genetic drift.

Keywords: genetic heterogeneity; founder effect; selection; mutation; consanguinity

 Further Reading
    Crow JF (1997) The high mutation rate: is it a health risk? Proceedings of the National Academy of Sciences of the United States of America 94: 8380–8386.
    Flint J, Harding RM, Clegg JB and Boyce AJ (1993) Why are some genetic diseases common? Human Genetics 91: 91–117.
    Sheffield VC, Stone EM and Carmi R (1998) Use of isolated inbred human populations for identification of disease gene. Trends in Genetics 14: 391–395.
    book Vogel F and Motulsky AG (1992) Human Genetics: Problems and Approaches, 2nd edn. New York, NY: Springer-Verlag.
    Zlotogora J, Bach G and Munnich M (2000) The molecular basis of Mendelian disorders among Jews. Molecular Genetics and Metabolism 69: 169–180.
 Web Links
    ePath The Frequency of Inherited Disorders Database http://www.uwcm.ac.uk/uwcm/mg/fidd/
    ePath Cytochrome P450, subfamily XXIA, polypeptide 2 (CYP21A2); LocusID: 1589. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1589
    ePath Fibroblast growth factor receptor 3 (FGFR3); LocusID: 2261. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2261
    ePath Gap junction 2 (GJB2); LocusID: 2706. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2706
    ePath Cytochrome P450, subfamily XXIA, polypeptide 2 (CYP21A2); MIM number: 201910. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?201910
    ePath Fibroblast growth factor receptor 3 (FGFR3); MIM number: 134934. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?134934
    ePath Gap junction 2 (GJB2); MIM number: 121011. OMIM: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?121011
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Zlotogora, Joel(Jan 2006) Genetic Disease: Prevalence. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006004]