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. 2017 Nov-Dec;33(6):1521-1524.
doi: 10.12669/pjms.336.13188.

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

Syeda Nuzhat Nawab  1 , Sitwat Zehra  2 , Asher Fawwad  3 , Abid Azhar  4
Affiliations

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

Syeda Nuzhat Nawab et al. Pak J Med Sci. 2017 Nov-Dec.

Abstract

Background & objective: Catalase (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.

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.

Keywords: Antioxidant enzyme; Catalase; Polymorphism; Promoter; Reactive oxygen species.

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Conflict of interest statement

Declaration of Interest: None.

Figures

Fig.1
Fig.1
PCR analysis of CAT gene -21 A/T (rs 7943316) M: 100bp DNA Marker, lanes 1 to 14 PCR products
Fig.2
Fig.2
Electrophoresis band pattern of RFLP products digested by Hinf 1. M: 100 DNA Marker, lanes 1,2,10 and 11 heterozygous AT: lanes 3, 4, 5, 6 and 13 homozygous AA: lanes 8. 9 and 12 homozygous TT
See this image and copyright information in PMC

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