Loss of Heterozygosity (definition)

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ψ	Loss of Heterozygosity

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Definition: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.

do not confuse entry term ALLELIC LOSS with ALLELIC IMBALANCE
See Also Hemizygote
Examples Chromosome Deletion; Haploinsufficiency

Other names Heterozygosity Loss; Allelic Losses; Heterozygosity, Loss of; Allelic Loss

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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