title: Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder.
abstract: The authors applied the polymerase chain reaction- (PCR) based color complementation assay for rapid detection of the 1226 ("Jewish") mutation of the glucocerebrosidase gene. Fifty-seven unrelated patients with Gaucher's disease and 50 unrelated normal Ashkenazi Jewish volunteers were studied. This mutation was identified in more than 75% of the Jewish Gaucher's disease alleles and in 4 (8%) of the 50 normal Jewish volunteers. The reliability of the technique was verified both by DNA sequencing and by leukocyte beta-glucosidase assay. This method is suggested as the simplest and most suitable one for a large-scale screening for the 1226 mutation for Gaucher's disease.
authors.affiliation: Department of Molecular and Experimental Medicine, Research Institute of Scripps Clinic, La Jolla, California 92037.
authors.forename: A
authors.initials: A
authors.lastname: Zimran
authors.forename: W C
authors.initials: WC
authors.lastname: Kuhl
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005776:Gaucher Disease / Q000235:genetics*; D005784:Gene Amplification; D005808:Genes, Recessive / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D007223:Infant; D007585:Jews; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012016:Reference Values
chemical_list: D005962:Glucosylceramidase