title: [Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].
abstract: OBJECTIVE
  To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients.
  
  
  METHODS
  Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve.
  
  
  RESULTS
  In 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing.
  
  
  CONCLUSIONS
  Mutation of NF-L gene may be rare in Chinese CMT patients.
authors.affiliation: Department of Neurology, National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410008 P. R. China. tangbeisha@yahoo.com
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Guohua
authors.initials: G
authors.lastname: Zhao
authors.forename: Qi
authors.initials: Q
authors.lastname: Li
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xiao
authors.forename: Qidong
authors.initials: Q
authors.lastname: Yang
authors.forename: Jiahui
authors.initials: J
authors.lastname: Xia
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D016900:Neurofilament Proteins; C044882:neurofilament protein L; D004247:DNA