founder mutation
A genetic variant that is common in a population due to descent from a small number of ancestors.
Full Definition
A founder mutation is a genetic variant that occurs with unusually high frequency in a specific population or ethnic group due to descent from a small number of common ancestors who carried the mutation. These mutations are particularly relevant in reproductive genetics because they create population-specific risks that must be considered in carrier screening programs. Founder mutations often result from population bottlenecks, geographic isolation, or cultural practices that limit genetic mixing. Classic examples include BRCA1 and BRCA2 mutations in Ashkenazi Jewish populations and specific cystic fibrosis mutations in various ethnic groups.
Usage
Usage note: Always specify the population or ethnic group when discussing specific founder mutations.
In Context
- "The laboratory included testing for founder mutations prevalent in the patient's ethnic background." — Carrier screening report
- "Genetic counseling addressed the elevated risk for Tay-Sachs disease due to the founder mutation in Ashkenazi Jewish ancestry." — Preconception counseling session