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Pleiotropy

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The blood of a two week-old infant is collected for a Phenylketonuria. A classic example of pleiotropy is the human disease PKU (phenylketonuria). This disease can cause mental retardation and can be caused by any of a large number of mutations in a single gene that codes for the enzyme (phenylalanine hydroxylase).

Pleiotropy (Greek: πλείων, pleion meaning "plurality", "plus", "more" and Greek: τρόπος, tropos, meaning "change", "turn") is the phenomenon whereby a single gene influences multiple phenotypic traits or different and unrelated characters. Genes that control multiple phenotypes are called pleiotropic.[1]

Examples

Tuberous sclerosis

Tuberous sclerosis is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the liver and the skin, for example. This disease demonstrates pleiotropy, resulting in a variety of apparently unrelated phenotypic features, such as skin hypopigmentation, multiple hamartomas and learning disability.[2]

Albinism

Albinism is also a pleiotropic trait affecting eyesight as well as resulting in a lack of pigmentation in skin, hair, and eyes.[3]

Phenylketonuria

Phenylketonuria is a disease that can cause mental retardation and can be caused by any of a large number of mutations in a single gene encoding an enzyme called phenylalanine hydroxylase present in the liver and necessary for the metabolism of phenylalanine. Phenylketonuria is a classic example of pleiotropy.

References

  1. Robinson, Tara Rodden (2005). Genetic for Dummies. Hoboken, NJ: Wiley Publishing, Inc.. p. 62. ISBN 978-0-7645-9554-7. 
  2. Kingston, Helen M (2002). ABC of Clinical Genetics (3rd ed.). London: BMJ Books. p. 25. ISBN 0-7279-1627-0. 
  3. Willett, Edward (2006). Genetic Demystified: A Self-Teaching Guide. New York: McGraw-Hill. p. 50. ISBN 0-07-149051-5.