title: Detection of an exon 53 polymorphism in the dystrophin gene.
abstract: We utilized a heteroduplex method to screen for small mutations in Duchenne muscular dystrophy patients who did not have deletions or duplications. A dystrophin exon 53 heteroduplex band was identified in 14.4% of the affected patients. Direct sequencing of the amplified product from DNA producing the heteroduplex revealed the presence of a polymorphism in the coding region. The codon for asparagine was converted from AAT to AAC.
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
mesh_terms: D001216:Asparagine / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; 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; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes; D001216:Asparagine