title: Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.
abstract: The prevalence of seven different mutations (84GG, IVS2 + 1, 754A, 1226G, 1342C, 1448C, and 1504T) was investigated in 32 unrelated Japanese Gaucher patients of which 20 were type I, 6 were type II, and 6 were type III). These mutations constitute 95% of the mutations observed in Jewish patients with Gaucher disease and 75% of the mutations in non-Jews (European). The most frequent mutation, 1448C (L444P), accounted for 26 alleles (40.6%); the second most prevalent mutation was 754A (F213I), accounting for 7 alleles (10.9%); 27 alleles (42.2%) were unidentified. To data, neither the 1226G (N370S) nor 84GG mutations have been identified in the Japanese population though these alleles account for approximately 70% and 10% of mutations in the Jewish population. These data suggest that mutant alleles identified from the Japanese population are distinct from those observed in Jewish and non-Jewish (European) 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: K
authors.initials: K
authors.lastname: Iwasawa
authors.forename: H
authors.initials: H
authors.lastname: Kawame
authors.forename: O M
authors.initials: OM
authors.lastname: Rennert
authors.forename: K
authors.initials: K
authors.lastname: Maekawa
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005776:Gaucher Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007585:Jews / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D044465:White People / Q000235:genetics