title: Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
abstract: Utilizing a heteroduplex method, we screened the dystrophin exon 43-45 region for point mutations, including small deletions and insertions. The method depends upon the formation of a heteroduplex between wild-type and mutant DNA PCR products. DNA specimens from one hundred and four DMD patients without detected deletions or duplications were multiplexed amplified for exons 43, 44, and 45. The PCR products were mixed with the PCR products from nonaffected controls, electrophoresed, and examined for the presence of altered mobility heteroduplex bands. An exon 44 nonsense mutation in two DMD brothers and a common intron 44 polymorphism were identified using this approach. Although the exon 44-45 region is a hotspot for deletion breakpoints, it does not appear to be prone to point mutations. The technique is extremely useful for screening several exons simultaneously and it allowed us to screen a large number of patients.
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: A H
authors.initials: AH
authors.lastname: Burghes
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: J R
authors.initials: JR
authors.lastname: Mendell
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D017354:Point Mutation
chemical_list: D016189:Dystrophin; D009692:Nucleic Acid Heteroduplexes; D004247:DNA