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Open Access Research article

Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1–12 dosage

Maria I Shadrina1, Elena V Semenova1*, Petr A Slominsky1, Gulbahar H Bagyeva2, Sergei N Illarioshkin2, Irina I Ivanova-Smolenskaia2 and Svetlana A Limborska1

Author Affiliations

1 Institute of Molecular Genetics, Russian Academy of Sciences, 2 Kurchatov sq., 123182, Moscow, Russia

2 Department of Neurogenetics, Institute of Neurology, 80 Volokolamskoye Highway, 123367, Moscow, Russia

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BMC Medical Genetics 2007, 8:6  doi:10.1186/1471-2350-8-6

Published: 26 February 2007

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 β-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%.

Conclusion

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.