title: [A novel point mutation in parkin gene was identified in an early-onset case of Parkinson's disease].
abstract: OBJECTIVE
  To investigate the distribution of possible novel mutation of parkin gene in variant subset patients with Parkinson's disease (PD) in China and to explore the role of parkin gene in the pathogenesis of PD.
  
  
  METHODS
  Seventy patients were divided into early  onset and late-onset groups, and 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes with standard procedures. Mutations of parkin gene (exons 1-12) in all subjects mentioned above were screened by PCR-SSCP. And in the samples with abnormal SSCP result, further sequencing was performed to confirm the mutation and its location.
  
  
  RESULTS
  A new missense mutation (Gly284Arg) on exon 7 was found in a sample, while 4 samples from all subjects exhibited abnormal mobility shift on SSCP electrophoresis. All mentioned DNA variants were sourced from the samples of the patients with early-onset PD.
  
  
  CONCLUSIONS
  Point mutation in parkin gene also contributes partly to the development of early-onset Parkinson's disease in Chinese population.
authors.affiliation: Department of Neurology, the Affiliated Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022 P. R. China. wangthy1@public.wh.hb.cn
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.forename: Zhihou
authors.initials: Z
authors.lastname: Liang
authors.forename: Shenggang
authors.initials: S
authors.lastname: Sun
authors.forename: Xuebing
authors.initials: X
authors.lastname: Cao
authors.forename: Hai
authors.initials: H
authors.lastname: Peng
authors.forename: Fei
authors.initials: F
authors.lastname: Cao
authors.forename: Hongjin
authors.initials: H
authors.lastname: Liu
authors.forename: Etang
authors.initials: E
authors.lastname: Tong
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D001483:Base Sequence; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D044767:Ubiquitin-Protein Ligases
chemical_list: D004247:DNA; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases