EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa

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• 作者：Janine Blanckenberg ; Claudia Ntsapi ; Jonathan A. Carr ; Soraya Bardien
• 关键词：Parkinson's disease ; EIF4G1 gene ; R1205H mutation ; VPS35 gene ; D620N mutation ; South Africa
• 刊名：Neurobiology of Aging
• 出版年：February, 2014
• 年：2014
• 卷：35
• 期：2
• 页码：445.e1-445.e3
• 全文大小：151 K

文摘

The R1205H mutation in the eukaryotic translation initiation factor 4G1 (EIF4G1) gene and the D620N mutation in the vacuolar protein sorting 35 (VPS35) gene were recently found in patients with autosomal dominant or sporadic forms of Parkinson's disease (PD). In the present study, 418 South African PD patients and 528 control subjects of diverse ethnicities were screened using the KASP (Kompetitive Allele Specific PCR) genotyping assay. The mutations were not found in our study, suggesting that they are not a common cause of PD in South African patients. Further studies are needed on the frequency of these 2 mutations in other sub-Saharan African populations.