[Genetic analysis of 60 Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) patients using dystrophin cDNA].
We have studied 60 unrelated Chinese Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) patients using dystrophin cDNA. Thirty-two mutations (53%) were detected, 31 deletions and 1 duplication. The major deletion-rich region is located in the center of the dystrophin locus. This region includes the last four exons covered by cDNA 5b-7 and all exons detected by cDNA 8. No correlation was observed between the location or length of the deletions and the clinical phenotypes of the patients.
Zhang
J
J
Institute of Basic Medical Sciences, CAMS and PUMC, Beijing.
D044466:Asian People; D015342:DNA Probes; D018076:DNA, Complementary / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D005810:Multigene Family; D009136:Muscular Dystrophies / Q000235:genetics*
D015342:DNA Probes; D018076:DNA, Complementary; D016189:Dystrophin