Article
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
Proceedings of the National Academy of Sciences of the United States of America - 1 Dec 1991
Beutler E, Gelbart T, Kuhl W, Sorge J, West C
Abstract excerpt
Gaucher disease is an autosomal recessive glycolipid storage disease characterized by a deficiency of glucocerebrosidase. The disease is most common in persons of Ashkenazi Jewish ancestry and the most common mutation, accounting for about 75% of the mutant alleles in this population, is known to be an A----G substitution at cDNA nucleotide (nt) 1226. Screening for this disease has not been possible because...
Topics
- Age Factors
- Base Sequence
- Cells, Cultured
- DNA
- Gaucher Disease
- Genes, Recessive
- Genetic Carrier Screening
- Genotype
- Glucosylceramidase
- Humans
- Jews