title: [Establishment and application of an analytical method for PINK1 gene exon copy number].
abstract: OBJECTIVE
  To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1) exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP).
  
  
  METHODS
  Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls.
  
  
  RESULTS
  Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group.
  
  
  CONCLUSIONS
  An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.
authors.forename: Hai-nan
authors.initials: HN
authors.lastname: Zhang
authors.forename: Bing
authors.initials: B
authors.lastname: Liao
authors.forename: Li-luo
authors.initials: LL
authors.lastname: Nie
authors.forename: Jif-eng
authors.initials: JE
authors.lastname: Guo
authors.forename: Chun-yu
authors.initials: CY
authors.lastname: Wang
authors.forename: Xue-wei
authors.initials: XW
authors.lastname: Zhang
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics*; D005260:Female; D018628:Gene Dosage / Q000235:genetics*; D006801:Humans; D008297:Male; D020734:Parkinsonian Disorders / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011494:Protein Kinases / Q000235:genetics*; D055815:Young Adult; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase