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16. Absence of SNCA polymorphisms in Pakistani Parkinsons disease patients.

Author

Sultan A, Usmani MA, Ghaffar M, Ali J, Badshah M, and Ahmad N

Subjects
Adult, Aged, Case-Control Studies, Humans, Middle Aged, Pakistan epidemiology, Polymerase Chain Reaction, Parkinson Disease epidemiology, Parkinson Disease genetics, Polymorphism, Single Nucleotide genetics, alpha-Synuclein genetics
Abstract

Objective: To elucidate the genetic risk and role of alpha-synuclein gene in the pathogenesis of Parkinson's disease in Pakistani population., Methods: This case-control study was conducted at Institute of Biomedical and Genetic Engineering (IBGE), Islamabad from May 2013 to May 2016, and comprised patients with Parkinson's disease and their ethnically-matched healthy controls. Allele-specific polymerase chain reaction was used for screening of three pathogenic single nucleotide polymorphisms in alpha-synuclein gene. Moreover, 20% samples were randomly selected for bidirectional Sanger sequencing to confirm the results. SPSS 13 was used for data analysis., Results: Of the 374 participants, 174(46.5%) were patients and 200(53.5%) were controls. The mean age for the onset of the disease was 55±13 years. No polymorphism was observed for rs104893875(G>A), rs104893877(G>A) and rs104893878(C>G) in alpha-synuclein gene in samples of patients and controls., Conclusions: Alpha-synuclein gene mutations might not be relevant to all the populations in causing Parkinson's disease.

Published
2017

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