title: [Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis].
abstract: OBJECTIVE
  To explore the characteristics of DNA mutations underlying Duchenne muscular dystrophy and provide prenatal diagnosis.
  
  
  METHODS
  Multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) were applied for analyzing DMD gene mutations in 388 unrelated Chinese patients and 53 fetuses.
  
  
  RESULTS
  Respectively, 230 and 43 subjects were found to harbor a deletion (59.28%) or duplication (11.08%). Two deletion hotspots were identified, which have located at exons 45-54 and exons 3-19. Duplications were mainly detected at exons 2-43. Point mutations were identified in 29.64% of patients. Fifty three fetuses were prenatal diagnosed, among which 18 were identified as patients.
  
  
  CONCLUSIONS
  Frequencies of DMD gene deletions and duplications in China are similar to global data. Prenatal diagnosis can help to reduce births of DMD patients.
authors: Institute of Population Research, Peking University, Beijing, People's Republic of China.
authors: Shan-wei
authors: SW
authors: Feng
authors: Ying-yin
authors: YY
authors: Liang
authors: Ji-qing
authors: JQ
authors: Cao
authors: Xin-ming
authors: XM
authors: Song
authors: Cheng
authors: C
authors: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D016189:Dystrophin