title: [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
abstract: OBJECTIVE
  To detect the duplication or deletion of peripheral myelin protein 22(PMP22) gene in Chinese patients with Charcot-Marie-Tooth disease(CMT) or hereditary neuropathy with liability to pressure palsies(HNPP) using real-time quantitative polymerase chain reaction.
  
  
  METHODS
  Duplications or deletions of PMP22 gene were detected in 113 CMT cases, 4 HNPP cases and 50 normal controls by using real-time quantitative PCR.
  
  
  RESULTS
  Thirty-six of 113 CMT cases had the PMP22 duplication, 4 HNPP cases had the PMP22 deletion. No duplication or deletion was found in 50 normal controls.
  
  
  CONCLUSIONS
  The PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of HNPP.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
authors.forename: Fu-feng
authors.initials: FF
authors.lastname: Zhang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Yi-qiang
authors.initials: YQ
authors.lastname: Zhao
authors.forename: Biao
authors.initials: B
authors.lastname: Chen
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Xiao-min
authors.initials: XM
authors.lastname: Liu
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
authors.forename: Ru-xu
authors.initials: RX
authors.lastname: Zhang
authors.forename: Peng
authors.initials: P
authors.lastname: Guo
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human