title: [Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].
abstract: OBJECTIVE
  To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP).
  
  
  METHODS
  Mutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families.
  
  
  RESULTS
  No pathogenetic mutations in the DJ1 gene were detected in this group. Six intronic DJ1 polymorphisms (IVS1-15T-->C, IVS4+30T-->G, IVS4+45G-->A, IVS4+46G-->A, IVS5+31G-->A, g.168-185del) were found. Three of them (IVS1-15T-->C, IVS4+45G-->A, IVS4+46G-->A) were not reported previously.
  
  
  CONCLUSIONS
  DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Yu-hu
authors.initials: YH
authors.lastname: Zhang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Zhao
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Li
authors.initials: L
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000071617:Protein Deglycase DJ-1; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1