title: Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection.
abstract: Approximately one-third of the Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene. For carrier and prenatal studies in families without detectable mutations, the indirect restriction fragment length polymorphism linkage approach is used. Using a multiplex amplification and heteroduplex analysis of dystrophin exons, we identified nonsense mutations in two DMD patients. Although the nonsense mutations are predicted to severely truncate the dystrophin protein, both patients presented with mild clinical courses of the disease. As a result of identifying the mutation in the affected boys, direct carrier studies by heteroduplex analysis were extended to other relatives. We conclude that the technique is not only ideal for mutation detection but is also useful for diagnostic testing.
authors.affiliation: Department of Pathology, Ohio State University, Columbus 43210.
authors.forename: T W
authors.initials: TW
authors.lastname: Prior
authors.forename: A C
authors.initials: AC
authors.lastname: Papp
authors.forename: P J
authors.initials: PJ
authors.lastname: Snyder
authors.forename: M S
authors.initials: MS
authors.lastname: Sedra
authors.forename: L M
authors.initials: LM
authors.lastname: Western
authors.forename: C
authors.initials: C
authors.lastname: Bartolo
authors.forename: R T
authors.initials: RT
authors.lastname: Moxley
authors.forename: J R
authors.initials: JR
authors.lastname: Mendell
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D016189:Dystrophin / Q000235:genetics*; D005796:Genes; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes