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Adenosine Deaminase 1 rs73598374 Genetic Polymorphism and Activity in Patients with Ischemic Stroke

並列摘要


In the present work we evaluated adenosine deaminase 1 (ADA1) encoding gene (ADA1) rs73598374 single nucleotide polymorphism (SNP) and the activity of this enzyme in patients with ischemic stroke (IS) in Armenian population. A total of 98 first episode IS patients within the first 24 hours of stroke onset, and age- and sex matched 177 healthy subjects (control group) were enrolled in this study. Genomic DNA samples of study subjects were genotyped for ADA1 rs73598374 SNP using polymerase chain reaction with the sequence specific primers. ADA1 activity was determined by colorimetric assay evaluating ammonia liberated in the enzymatic reaction of adenosine deamination. Hardy-Weinberg equilibrium, Pearson's Chisquare test and Student's t-test were used for evaluation of the obtained results. The obtained results demonstrated no significant differences in allele and phenotype frequencies of the selected genetic variant between study groups, thus indicating no association of ADA1 rs73598374 SNP with IS. Also, insignificant difference was detected when comparing ADA1 activity levels in the blood of IS patients and healthy subjects. In summary we concluded that alterations in ADA1 enzyme on both genetic and activity levels are not implicated in IS pathogenesis.

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