[DJ-1 gene rearrangement mutation in patients with autosomal recessive early-onset parkinsonism using real-time PCR]

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2010 May;35(5):438-44. doi: 10.3969/j.issn.1672-7347.2010.05.006.
[Article in Chinese]

Abstract

Objective: To establish a technique platform of DJ-1 gene exon rearrangement using real-time PCR and to analyze DJ-1 gene exon rearrangement mutation in patients with autosomal recessive early-onset Parkinsonism(AREP).

Methods: Real-time PCR was used to analyze DJ-1 gene exon rearrangement mutation in 22 probands with AREP from unrelated Chinese Han families and 30 normal controls.

Results: We obtained satisfactory real-time PCR reaction conditions and primers of DJ-1 gene coding exons No exon rearrangement mutation in the DJ-1 gene is detected in this group.

Conclusion: We established platform of DJ-1 gene exon rearrangement using real-time PCR. Exon rearrangement mutation in the DJ-1 gene is rare in Chinese patients with AREP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • China / ethnology
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Gene Rearrangement*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation*
  • Oncogene Proteins / genetics*
  • Parkinsonian Disorders / genetics*
  • Protein Deglycase DJ-1
  • Reverse Transcriptase Polymerase Chain Reaction
  • Young Adult

Substances

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