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genetic heterogeneity
Occurrence of similar phenotypes caused by mutations in different genes.
Full Definition
Genetic heterogeneity describes the phenomenon where clinically similar or identical phenotypes can result from mutations in different genes or different mutations within the same gene. This concept is crucial in reproductive genetics as it affects genetic testing strategies, inheritance patterns, and counseling approaches. Locus heterogeneity occurs when different genes cause the same disorder, while allelic heterogeneity refers to different mutations in the same gene causing similar phenotypes.
Usage
Usage note: Hyphenate when used as a compound adjective.
In Context
- "Genetic heterogeneity complicates carrier screening panel design for hearing loss." — Laboratory development report
- "The family's condition showed genetic heterogeneity with mutations in multiple genes." — Genetic counseling summary
Also known as
phenotypic heterogeneity
Contrasted with
genetic homogeneity
Don't confuse with
pleiotropy
variable expressivity