title: [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To establish the gene diagnosis of chavcot-Marie-Tooth disease (CMT) by (PCR) polymerase chain reaction and to study the molecular genetic characteristics of the Chinese CMT.
  
  
  METHODS
  Mutation analysis of the Cx32, MPZ and PMP22 genes were performed by PCR-RFLP, PCR-SSCP, PCR-DGGE and/or direct sequencing in 32 CMT probands of the Hans in China.
  
  
  RESULTS
  21.9% of the CMT pedigrees had mutations in the Cx32, MPZ and PMP22 genes. Ten kinds of abnormal bands were found by PCR-SSCP, including 5 kinds of polymorphism and 5 point mutations in the exons of the gene (4 of the Cx32 and 1 of the MPZ). No point mutation of the PMP22 gene was found in these patients but two families (6.3%) were diagnosed as CMT1A by the PCR-RFLP, with the tandem repeat mutation of 1.5 Mb including the PMP22 gene.
  
  
  CONCLUSIONS
  PCR-SSCP and PCR-RFLP are the first two screening methods in the gene diagnosis of CMT. PCR-DGGE is not appropriate for mutation analysis of Cx32. The point mutations must be certificated by sequencing. The mutation screening in the possible X-linkage family has to start with Cx32 gene.
authors.affiliation: Department of Neurology, Xiangya Hospital, Zhongnan University, Changsha 410008, China.
authors.forename: J
authors.initials: J
authors.lastname: Xiao
authors.forename: B
authors.initials: B
authors.lastname: Tang
authors.forename: J
authors.initials: J
authors.lastname: Xia
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods; D016296:Mutagenesis; D018993:Myelin P0 Protein / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human