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 subā€populations or even small communities. Various processes influence the prevalence of genetic diseases in the population, in particular the mutation rate, selection and founder effect with genetic drift. In some genes, the rates of new mutations are high, and the disorder is frequent, often appearing as sporadic. A selective advantage to carrier of a genetic trait will lead to an increased frequency of the disease as it has been observed for sickle cell disease in which the carrier status protects from malaria. A relative isolation of a population that expands rapidly may lead to an increased frequency of genetic traits due to a founder effect.

Key Concepts

  • In general individual genetic diseases are rare, however, the total number of individuals affected with genetic diseases is large.
  • High mutation rate of a specific gene may be responsible for the high prevalence of the corresponding disease.
  • A genetic disease may be prevalent as a result of selection since the mutation increase the fitness of the carrier.
  • Genetic isolation of a population may lead to the high frequency of genetic diseases as a result of a founder effect with genetic drift.
  • The genetic isolation of a population may be caused by geographic conditions (in the past), religion or consanguinity.

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

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.

Fan S, Hansen ME, Lo Y and Tishkoff SA (2016) Going global by adapting local: a review of recent human adaptation. Science 354 (6308): 54–59.

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.

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.

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Zlotogora, Joël(Sep 2017) Genetic Disease: Prevalence. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0006004.pub2]