A study on Catalase Gene Promoter Polymorphism-21 A/T (rs7943316) in Healthy Pakistani population

Abstract

Background and Objective: Catalase [CAT] is an important endogenous antioxidant enzyme that detoxifies H[2]O[2] 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 Methods: The 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 Results: In 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 Conclusions: Data demonstrates that frequency and distribution of mutant T allele was more prevalent as compared to wild type A allele in the study group