title: [Detection of dystrophin gene mutation in a Chinese pedigree affected with Duchenne muscular dystrophy].
abstract: OBJECTIVE
  To identify mutations of dystrophin gene in a Chinese pedigree affected with Duchenne muscular dystrophy (DMD).
  
  
  METHODS
  Clinical data from the pedigree was collected. Subsequently, polymerase chain reaction and DNA sequencing analysis were applied to detect the potential mutations. Restriction enzyme digestion was carried out to determine whether the mutation was present in 118 healthy controls. Clustal software was applied for analyzing the conservation of altered amino acids.
  
  
  RESULTS
  DNA sequencing analysis has identified a heterozygous missense mutation c.7578G>C (p.Gln2526His) mutation in exon 52 of the dystrophin gene in the proband and his mother. The same mutation was absent in the 118 healthy controls. Restriction enzyme digestion has confirmed above result. Clustal analysis indicated that the altered amino acid is highly conserved in mammals.
  
  
  CONCLUSIONS
  The results revealed a novel missense mutation (c.7578G>C) of the dystrophin gene in DMD patients.
authors.affiliation: Department of Vasculocardiology, Rheumatology and Immunology, Wuhan Women and Children's Health Center, Wuhan, Hubei 430016, P. R. China. ZJF1662003@aliyun.com.
authors.forename: Qing
authors.initials: Q
authors.lastname: Du
authors.forename: Yali
authors.initials: Y
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Tian
authors.forename: Ling
authors.initials: L
authors.lastname: Zhang
authors.forename: Rong
authors.initials: R
authors.lastname: Du
authors.forename: Yuanzhou
authors.initials: Y
authors.lastname: Zhu
authors.forename: Jianfang
authors.initials: J
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
chemical_list: D016189:Dystrophin