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Haploinsufficiency occurs when a diploid organism only has a single working copy of a wild-type gene (with the other copy inactivated by hereditary mutation or another mechanism), and the single functional copy of the gene does not produce enough of a gene product (typically a protein) to bring about a wild-type condition, leading to an abnormal or disease state.

Haploinsufficiency is therefore an example of genetic dominance, as only one mutant gene is necessary to produce a phenotypical effect.

Human diseases exhibiting haploinsufficiency include:

• Cleidocranial dysostosis
• Achondroplastic dwarfism
• Huntington's disease
• Polydactyly
• Cancer
• Marfan syndrome

[edit] References

• Griffiths, Anthony J. et al. (2005). Introduction to Genetic Analysis (8th Ed.). W.H. Freeman. ISBN 0-7167-4939-4
• Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, et al. (2006). "The molecular genetics of Marfan syndrome and related disorders". Journal of Medical Genetics 43:769-787.