title: [Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR].
abstract: OBJECTIVE
  To investigate the value of fluorescence semi-quantitative PCR in analysis of the exon rearrangement of parkin gene in Chinese patients with isolated early-onset parkinsonism (EOP).
  
  
  METHODS
  fluorescence semi-quantitative PCR was used to analyze the exon rearrangements of parkin gene in 61 isolated patients with EOP.
  
  
  RESULTS
  Exon deletions in parkin gene were found in 4 of the 61 isolated patients with EOP. One of them failed to show the PCR product of exon 4 and had homozygous deletions of exon 4. The normalized ratios (NRs) of exon 2, exon 3, and exon 4 of the other 3 patients were 0.47, 0.52, and 0.49 respectively, showing that they had heterozygous deletions of exon 2, 3, and 4 respectively. No exon multiplication was found in this study.
  
  
  CONCLUSIONS
  Exon rearrangement of parkin gene exists in Chinese patients with isolated EOP.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Chansha 410008, China.
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Yu-hu
authors.initials: YH
authors.lastname: Zhang
authors.forename: Xue-wei
authors.initials: XW
authors.lastname: Zhang
authors.forename: Tao
authors.initials: T
authors.lastname: Chen
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Li
authors.initials: L
authors.lastname: Cao
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
mesh_terms: D000293:Adolescent; D000328:Adult; D005091:Exons; D005260:Female; D015894:Genome, Human; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein