title: [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.
  
  
  METHODS
  Mutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.
  
  
  RESULTS
  A compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.
  
  
  CONCLUSIONS
  A533G and A767G of GDAP1 gene were new mutations firstly reported.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Xiao-hong
authors.initials: XH
authors.lastname: Zi
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Xiao-bo
authors.initials: XB
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins