Canadian Medical Guide > Biological Sciences > Genetic Phenomena > Variation (Genetics) > Mutation > Allelic Imbalance Terms and Definitions




Allelic Imbalance

Medical Definition: A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.
Guide Notes: do not confuse with ALLELIC LOSS see LOSS OF HETEROZYGOSITY
Allelic Imbalance Categories.
Canadian Medical Guide Definition Loss of Heterozygosity - 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. When this occurs at a tumor suppressor gene locus where one of the alleles is already abnormal, it can result in neoplastic transformation (CELL TRANSFORMATION, NEOPLASTIC).

Allelic Imbalance Medical Definitions and Terms

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