title: [Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease].
abstract: OBJECTIVE
  Clarify parkin gene deletion mutations at exons 3 to 7 in Chinese patients with Parkinson's disease (PD) and analyze them together with the clinical features of PD.
  
  
  METHODS
  DNA was extracted from peripheral blood of 33 sporadic PD patients and 6 familial PD patients. Deletion mutations of parkin gene were identified by PCR amplification and agarose gel electrophoresis. The clinical data were analyzed together with the above information.
  
  
  RESULTS
  Of the 33 sporadic PD patients, 1 had exons 5 and 7 deletion, 2 had exon 7 deletion. The age of onset was 46, 48, 50 respectively. In the 6 familial PD patients, 1 had exon 5 deletion. The inheritance pattern in this patient was autosomal recessive and onset of the patient was 60. All of the patients who had parkin gene deletion mutations had tremor, rigidity and bradykinesia, but athetosis was not found. In addition, deletion mutations of parkin gene at exons 3, 4 and 6, were not found.
  
  
  CONCLUSIONS
  There are deletion mutations of parkin gene at exons 5 and 7 in Chinese PD patients.
authors.affiliation: Department of Neurology, Xiangya Hospital, Zhongnan University, Changsha 410008, China.
authors.forename: B
authors.initials: B
authors.lastname: Tang
authors.forename: S
authors.initials: S
authors.lastname: Liu
authors.forename: X
authors.initials: X
authors.lastname: Yan
authors.forename: L
authors.initials: L
authors.lastname: Shen
authors.forename: H
authors.initials: H
authors.lastname: Jiang
authors.forename: Q
authors.initials: Q
authors.lastname: Yang
authors.forename: S
authors.initials: S
authors.lastname: Ouyang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002681:China; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*