Article
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Clinical genetics - 1 Apr 2017
Shi L, Webb B D, Birch A H, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz G A, Edelmann L, Kornreich R
Abstract excerpt
The Ashkenazi Jewish (AJ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease-causing founder mutations have been identified and well-characterized, but for others, further study is necessary. The purpose of this study is to assess the carrier frequencies of 85 pathogenic variants causative of 29 recessive conditions in...
Topics
- Female
- Founder Effect
- Genes, Recessive
- Genetic Carrier Screening
- Genetic Diseases, Inborn
- Genetic Predisposition to Disease
- Genetic Testing
- Genetics, Population
- Genotype
- Heterozygote
- Humans
- Jews
- Male
- Mutation