A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
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.
Sakuraba
H
H
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
Ishii
K
K
Shimmoto
M
M
Yamada
H
H
Suzuki
Y
Y
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
D016189:Dystrophin; D015345:Oligonucleotide Probes