title: Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies.
abstract: By use of cDNA probes, molecular deletions were identified in 66.6% of 42 patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Owing to this high deletion rate, a new strategy for detecting DMD/BMD carriers is feasible in which the polymerase chain reaction is used as an initial screen for detecting the deletions occurring in specific deletion-prone exons. Because the deletions do not occur randomly, specific cDNA probes are utilized first with Southern blot analysis. Identification of a deletion permits direct analysis for DMD carrier status and removes the inherent limitations of the conventional restriction fragment length polymorphism technique. Carrier status is determined by scanning the autoradiographs with a densitometric spectrophotometer or by detection of a junction fragment.
authors.affiliation: Department of Laboratory Medicine, North Carolina Memorial Hospital, Chapel Hill.
authors.forename: T W
authors.initials: TW
authors.lastname: Prior
authors.forename: K J
authors.initials: KJ
authors.lastname: Friedman
authors.forename: W E
authors.initials: WE
authors.lastname: Highsmith
authors.forename: T R
authors.initials: TR
authors.lastname: Perry
authors.forename: L M
authors.initials: LM
authors.lastname: Silverman
mesh_terms: D001426:Bacterial Proteins; D001483:Base Sequence; D002872:Chromosome Deletion; D015342:DNA Probes; D015247:Deoxyribonuclease HindIII; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005784:Gene Amplification; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D001426:Bacterial Proteins; D015342:DNA Probes; D015247:Deoxyribonuclease HindIII; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific