Background: A genetic polymorphism of 50 bp insertion/deletion (Ins/Del) (rs 36232792) in the promoter region of the SOD1 was reported to influence the enzyme activity. The present study aimed to evaluate the status of this polymorphism of human peripheral blood cells and its association with SOD enzyme activity in beta-thalassemia major patients. Material and Methods: The study was carried out on 200 thalassemia major patients and 200 healthy controls healthy. The SOD1 genotypes were determined using a polymerase chain reaction (PCR)-based method. Serum SOD activity were assessed using SOD assay kit. In-silico analysis was assessed using loss-of-function (LoFtool) (PMID: 27563026). Results: No association was found between the insertion/deletion (Ins/Del) polymorphism and SOD enzyme activity in thalassemia major patients Conclusion: The results of this study indicated that the SOD enzyme activity is not affected by the 50 bp Ins/Del polymorphism of SOD1in thalassemia major patients. Further research with larger sample size and with other genes of antioxidant system is required.
Keywords: Hemoglobin; Polymorphism; Superoxide dismutase-1; Thalassemia.
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