title: Distribution of dystrophin gene deletions in a Chinese population.
abstract: OBJECTIVE
  To describe the deletion patterns and distribution characteristics of the dystrophin gene in a Chinese population of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).
  
  
  METHODS
  Patients with DMD/BMD were recruited. Deletions in 19 exons of the dystrophin gene were evaluated using accurate multiplex polymerase chain reaction (PCR).
  
  
  RESULTS
  Multiplex PCR identified deletions in 238/401 (59.4%) patients with DMD/BMD. Of these, 196 (82.4%) were in the distal hotspot, 32 (13.4%) were in the proximal hotspot, five (2.1%) were in both regions and five (2.1%) were in neither hotspot. Deletions were classified into 54 patterns. Exon 49 was the most frequently deleted. The reading frame rule was upheld for 91.9% of cases.
  
  
  CONCLUSIONS
  Accurate multiplex PCR for 19 exons is an effective diagnostic tool.
authors.affiliation: Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China.
authors.forename: Zhuo
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China.
authors.forename: Shengrong
authors.initials: S
authors.lastname: OuYang
authors.affiliation: Department of Neurology, The Affiliated Children's Hospital, Capital Institute of Paediatrics, Beijing, China.
authors.forename: Yanli
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Department of Neurology, The Affiliated Children's Hospital, Capital Institute of Paediatrics, Beijing, China.
authors.forename: Liwen
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Biochemistry, Capital Institute of Paediatrics, Beijing, China cipbiolab@163.com.
authors.forename: Jianxin
authors.initials: J
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D016189:Dystrophin
keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; accurate multiplex polymerase chain reaction; dystrophin gene; exon deletion