Dystrophin gene analysis on 76 families with dystrophinopathy]

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.