• Syeda Nuzhat Nawab, Sitwat Zehra, Asher Fawwad, and Abid Azhar.
• Dr. Syeda Nuzhat Nawab, Scientific Officer, The Karachi Institute of Biotechnology and Genetic Engineering (KIBGE), University Of Karachi, Karachi, Pakistan.
• Pak J Med Sci. 2017 Nov 1; 33 (6): 1521-1524.

Background & ObjectiveCatalase (CAT) is an important endogenous antioxidant enzyme that detoxifies H2O2 into water and oxygen, consequently limiting the deleterious effects of reactive oxygen species. It has suggested that CAT-21A/T (rs7943316) OMIM: 115500 gene promoter polymorphism is predominantly associated with different human disorders such as hypertension, cancers, diabetes, nephropathy, and other diseases accompanied by oxidative stress. This study was designed to investigate the prevalence of mutant T allele frequency in healthy individuals.MethodsThe study group consisted of 110 healthy individuals were enrolled from Baqai Institute of Diabetology and Endocrinology (BIDE), Karachi, Pakistan, during the period of April 2010 to May 2013. DNA was isolated from leukocytes. Genotyping of CAT-21A/T (rs7943316) gene promoter polymorphism was carried out using thermal cycler followed by RFLP. Blast N analysis was performed for the confirmation of gene sequences.ResultsIn CAT-21A/T (rs7943316) gene promoter polymorphism, wild type genotype (AA) was observed in 18.26% and alterered genotype (AT/TT) found in 81.74% cases.ConclusionsData demonstrates that frequency and distribution of mutant T allele was more prevalent as compared to wild type A allele in the study group.

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