title: Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.
abstract: BACKGROUND
  One of the causes of Parkinson's disease is mutations in the PARK2 gene. Deletions and duplications of single exons or exon groups account for a large proportion of the gene mutations. Direct detection of these mutations can be used for the diagnosis of Parkinson's disease.
  
  
  METHODS
  To detect these mutations, we developed an effective technique based on the real-time TaqMan PCR system, which allows us to evaluate the copynumbers of the PARK2 gene exons by comparing the intensity of the amplification signals from some exon of this gene with that of the beta-globin gene (the internal control).
  
  
  RESULTS
  We analyzed rearrangements in exons 1-12 of the PARK2 gene in 64 patients from Russia with early-onset Parkinson's disease. The frequency of these mutations in our patients was 14%.
  
  
  CONCLUSIONS
  We have developed a simple, accurate, and reproducible method applicable to the rapid detection of exon rearrangements in the PARK2 gene. It is suitable for the analysis of large patient groups, and it may become the basis for a diagnostic test.
authors.affiliation: Institute of Molecular Genetics, Russian Academy of Sciences, 2 Kurchatov sq,, 123182, Moscow, Russia. shadrina@img.ras.ru
authors.forename: Maria I
authors.initials: MI
authors.lastname: Shadrina
authors.forename: Elena V
authors.initials: EV
authors.lastname: Semenova
authors.forename: Petr A
authors.initials: PA
authors.lastname: Slominsky
authors.forename: Gulbahar H
authors.initials: GH
authors.lastname: Bagyeva
authors.forename: Sergei N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: Irina I
authors.initials: II
authors.lastname: Ivanova-Smolenskaia
authors.forename: Svetlana A
authors.initials: SA
authors.lastname: Limborska
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D005819:Genetic Markers; D005914:Globins / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D005914:Globins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein