title: [Dystrophin gene analysis on 76 families with dystrophinopathy].
abstract: We report for the last 1 year and 9 months results of the molecular diagnosis of Duchenne (DMD) and Becker (BMD) muscular dystrophy at Kobe University. Analysis was done on 87 patients belonging to 76 families (66 DMD cases, 10 BMD cases). We first determined the presence of deletions or duplications using Southern blot analysis. Then analyzed small mutations (point mutations or small deletions/insertions) by mRNA analysis using RT-PCR and direct sequencing. 69 mutations (89.5%) were found, 46 deletions (60.5%), 5 duplications (6.6%) and 17 point mutations (22.4%) including 15 nonsense mutation. mRNA analysis from lymphocytes or muscle was useful for screening patients without a mutation identifiable by Southern blot analysis.
authors.affiliation: Divisions of Molecular Medicine, Pediatrics, Kobe University Graduate School of Medicine, Kobe.
authors.forename: Kayo
authors.initials: K
authors.lastname: Adachi
authors.forename: Mariko
authors.initials: M
authors.lastname: Yagi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Ito
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
authors.forename: Hiroko
authors.initials: H
authors.lastname: Wada
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakamura
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*
chemical_list: D016189:Dystrophin