title: Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
abstract: Utilizing PCR and PCR-SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease. Sixty alleles (63.8%) and 20 alleles (21.3%) were identified by analysis for common mutations and PCR-SSCP analysis, respectively. The L444P and F213I mutations were common, accounting for 41 alleles (43.6%) and 14 alleles (14.9%). R496C, D409H, S366G and 1447-1466 del ins TG mutations were identified in 5, 3, 3 and 3 alleles, respectively. The other mutations were unique. In spite of vigorous screening, 14 alleles (14.9%) could not be identified. Four novel mutations were identified by PCR-SSCP analysis: G189V, S366G, K413Q and R433G. These data indicate that besides the L444P mutation no other frequent mutation is present and there is broad heterogeneity of the glucocerebrosidase gene mutations in Japanese patients with Gaucher disease.
authors.affiliation: Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ida
authors.forename: O M
authors.initials: OM
authors.lastname: Rennert
authors.forename: H
authors.initials: H
authors.lastname: Kawame
authors.forename: K
authors.initials: K
authors.lastname: Maekawa
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
mesh_terms: D000483:Alleles; D002478:Cells, Cultured; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D005776:Gaucher Disease / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007564:Japan; D007962:Leukocytes / Q000166:cytology / Q000201:enzymology; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D015995:Prevalence
chemical_list: D005962:Glucosylceramidase