title: Analysis of helicase gene mutations in Japanese Werner's syndrome patients.
abstract: The profile of helicase gene mutations was studied in 89 Japanese Werner's syndrome (WRN) patients by examining the previously described mutations 1-4 as well as a new mutation found during this study, designated mutation 5. Of 178 chromosomes (89 patients), 89 chromosomes (50%) had mutation 4, 11 (6.2%) chromosomes had mutation 1, and two chromosomes (1.1%) contained mutation 5. Mutations 2 and 3 were not observed in this patient population. The remaining 76 (42.7%) chromosomes had none of these mutations. A significant fraction of all patients (22 total patients, 24.7%) appear to be compound heterozygotes, including those carrying mutations of both types 1 and 4. The genotypes analysis of the markers surrounding the. WRN helicase gene strongly suggests that most of the chromosomes carrying either mutation 1 or 4 were derived from two single founders.
authors.affiliation: Department of Rheumatology, Tokyo Metropolitan Otsuka Hospital, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Goto
authors.forename: O
authors.initials: O
authors.lastname: Imamura
authors.forename: J
authors.initials: J
authors.lastname: Kuromitsu
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Yamabe
authors.forename: Y
authors.initials: Y
authors.lastname: Tokutake
authors.forename: N
authors.initials: N
authors.lastname: Suzuki
authors.forename: B
authors.initials: B
authors.lastname: Mason
authors.forename: D
authors.initials: D
authors.lastname: Drayna
authors.forename: M
authors.initials: M
authors.lastname: Sugawara
authors.forename: M
authors.initials: M
authors.lastname: Sugimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Furuichi
mesh_terms: D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree; D014898:Werner Syndrome / Q000201:enzymology / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004265:DNA Helicases