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

• 作者: Ekaterina Y. Fedotova Elena V. Filatova Irina A. Ivanova-Smolenskaya Maria I. Shadrina Petr A. Slominsky Sergei N. Illarioshkin Svetlana A. Limborska
• 来源期刊: 帕金森(英文)
• 学科: 医学
• 关键词: Parkinson’s Disease Point Mutations Single-Nucleotide Polymorphisms
• 年，卷（期）: pjsyw_2013,（1）
• 页码范围: 28-30
• 页数: 3页
• 分类号: R73

摘要

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.