title: [Detection of mutation in dystrophin gene in Duchenne muscular dystrophy--multiplex PCR and Southern blot analysis].
abstract: The genetic defect responsible for Duchenne muscular dystrophy (DMD) can be identified as a partial deletion of the dystrophin gene in 50% of cases, or as a partial duplication in a further 10%. Multiplex PCR has been applied to screening of mutations in dystrophin gene, and it can identify 98% of deletions detected by Southern blot analysis. However, PCR cannot be available for quantifying DNA, so that detection of carrier status or duplication cannot be identified by multiplex PCR. Quantitative analysis of Southern blot hybridization is the most widely used and reliable method for detection of carrier and duplication mutation in dystrophin gene, but this method is a technically demanding procedure.
authors.affiliation: Department of Internal Medicine, National Higasisaitama Hospital.
authors.forename: J
authors.initials: J
authors.lastname: Kawamura
mesh_terms: D015139:Blotting, Southern; D016189:Dystrophin / Q000235:genetics*; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D016189:Dystrophin