autosomal recessive inheritance
Inheritance pattern where both copies of a gene must carry pathogenic variants for disease expression. Affects males and females equally.
Full Definition
A mendelian inheritance pattern in which a genetic condition manifests only when an individual inherits pathogenic variants in both copies of a gene located on an autosome (non-sex chromosome). Carriers, who have only one pathogenic variant, are typically unaffected but can transmit the condition to offspring. When both parents are carriers, each pregnancy has a 25% risk of producing an affected child, a 50% chance of producing a carrier, and a 25% chance of producing an unaffected non-carrier. This inheritance pattern affects males and females equally and often involves consanguineous relationships, as related individuals are more likely to share the same recessive alleles.
Usage
Usage note: Always specify the inheritance pattern when discussing genetic conditions to avoid confusion.
In Context
- "The pedigree analysis clearly demonstrated autosomal recessive inheritance with affected individuals in the same generation." — Genetic counseling session notes
- "Autosomal recessive inheritance explains why the condition skipped generations and affected both male and female family members." — Clinical genetics report