Article
Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
American journal of medical genetics - 7 Jul 1998
Rockah R, Narinsky R, Frydman M, Cohen I J, Zaizov R, Weizman A, Frisch A
Abstract excerpt
Gaucher disease (GD), caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GBA), is the most common human glycolipid storage disease. The incidence of the disease is particularly high in the Ashkenazi Jewish population, with a carrier frequency of 0.068. The 1226A-->G and 84GG mutat...
Topics
- Alleles
- Arabs
- Founder Effect
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Haplotypes
- Heterozygote
- Humans
- Jews
- Linkage Disequilibrium
- Mutation
- Polymorphism, Genetic
- Pyruvate Kinase
- Trinucleotide Repeats