[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):641-3.
[Article in Chinese]

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.

Conclusion: DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Base Sequence
  • China / epidemiology
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Mutation*
  • Oncogene Proteins / genetics*
  • Parkinsonian Disorders / epidemiology
  • Parkinsonian Disorders / genetics*
  • Polymerase Chain Reaction
  • Protein Deglycase DJ-1
  • Young Adult

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • PARK7 protein, human
  • Protein Deglycase DJ-1