title: A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
abstract: A new screening method involving the multiplex polymerase chain reaction was developed to detect dystrophin gene deletions in Japanese patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Eleven exonic regions including deletion "hot spots" were analyzed. Gene deletions were found in 33% of 92 unrelated Japanese patients, mainly in the central portion (exons 43-52) and at the 5' end (exons 1-17). This is a useful laboratory test for the rapid genetic diagnosis of DMD/BMD.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: M
authors.initials: M
authors.lastname: Shimmoto
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D044466:Asian People; D001483:Base Sequence; D002872:Chromosome Deletion; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D012016:Reference Values
chemical_list: D016189:Dystrophin; D015345:Oligonucleotide Probes