Effective Quantitative Real-time Polymerase Chain Reaction Analysis of the Parkin Gene (PARK2) Exon 1-12 Dosage

Overview

Journal BMC Med Genet

Publisher Biomed Central

Specialty Genetics

Date 2007 Feb 28

PMID 17324265

Citations 9

Authors

Maria I Shadrina

Elena V Semenova

Petr A Slominsky

Gulbahar H Bagyeva

Sergei N Illarioshkin

Irina I Ivanova-Smolenskaia

Svetlana A Limborska

Affiliations

Soon will be listed here.

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%.

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.

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