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Home > A. Molecular pathology > haploinsufficiency


Monday 22 September 2003

Definition: A gene dosage effect that occurs when a diploid requires both functional copies of a gene for a wild-type phenotype. An organism that is heterozygous for a haploinsufficient locus does not have a wild-type phenotype.

Thus, it cam be considered as a phenotypic state that results from loss of one functional allele of any given gene in diploid cells. Sometimes also called allelic insufficiency.

See also

- mutations

  • genic mutations