Haploinsufficiency
From Biocrawler, the free encyclopedia.
Haploinsufficiency occurs when a diploid organism only has a single copy of a wild-type gene, with the other copy being inactivated by hereditary mutation or another mechanism. In the case of haploinsufficiency, a single functional copy of the gene does not produce enough of a gene product, leading to an abnormal or disease state.
Haploinsufficiency is therefore a result of dominant mutation, as only one mutant gene is necessary to produce a phenotype effect.
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References
- Griffiths, Anthony J. et al (2005). Introduction to Genetic Analysis (8th Ed.). W.H. Freeman. ISBN 0-7167-4939-4
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