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Hedrich, K., Kann, M., Lanthaler, A.J., et al. (2001) The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Human Molecular Genetics, 10, 1649-1656. doi:10.1093/hmg/10.16.1649

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• TITLE: Analysis of known point mutations and SNPs in genes responsible for monogenic Parkinson’s disease in Russian patients

  AUTHORS: Elena V. Filatova, Maria I. Shadrina, Ekaterina Y. Fedotova, Irina A. Ivanova-Smolenskaya, Sergei N. Illarioshkin, Svetlana A. Limborska, Petr A. Slominsky

  KEYWORDS: Parkinson’s Disease; Point Mutations; Single-Nucleotide Polymorphisms

  JOURNAL NAME: Advances in Parkinson's Disease, Vol.2 No.1, February 18, 2013

  ABSTRACT: Background: Parkinson’s disease (PD) is caused by complex interactions between genetic and environmental factors. Mendelian forms of PD rarely occur in practice, but respective genes may play some role in pathogenesis of a common sporadic form of the disease. Methods: We analyzed most frequent known point mutations (PMs) and single-nucleotide polymorphisms (SNPs) in genes responsible for monogenic PD in 408 Russian patients, using arrayed primer extension (APEX), real-time PCR, and restriction fragment length polymorphism analysis. Results: We detected only three heterozygous PMs in the PARK2 gene in three non-related patients with early-onset sporadic PD. No association between PD and the studied SNPs was identified. Conclusion: The examined PMs and SNPs in genes responsible for monogenic PD do not contribute significantly to the development of sporadic PD in Russia.