title: Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.
abstract: We have localized the PvuII polymorphism of the glucocerebrosidase gene complex to intron 6 of the active gene. Using the polymerase chain reaction (PCR) to amplify intron 6 of DNA samples from Pv1.1-/Pv1.1+ individuals, we defined the mutation causing this polymorphism as a G----A single-base substitution at position 3931 of the active gene. By analyzing 54 unrelated Gaucher patients we show strong linkage disequilibrium between the Pv1.1- genotype and the common Jewish mutation 1226 causing the adult type of this disease. Gaucher disease patients heterozygous for the 1226 allele and one unidentified allele (1226/?), particularly those of Jewish ancestry, were predominantly of the Pv1.1-/PV1.1+ genotype. This suggests that one of the unknown alleles may be relatively common and linked to the Pv1.1+ genotype.
authors.affiliation: Scripps Clinic and Research Foundation, Research Institute of Scripps Clinic, La Jolla, CA 92037.
authors.forename: A
authors.initials: A
authors.lastname: Zimran
authors.forename: T
authors.initials: T
authors.lastname: Gelbart
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D002460:Cell Line; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D015252:Deoxyribonucleases, Type II Site-Specific; D005776:Gaucher Disease / Q000235:genetics*; D005784:Gene Amplification; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics*; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004247:DNA; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific