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The Frequency and Distribution of Catalase (CAT-21A/T) Gene Polymorphisms in Haryana (North India) Population: A Comparative Study with Worldwide Ethnic Groups

MONIKA RANI, HEMLATA, ANURADHA BHARDWAJ, ANIL KUMAR, ANITA SAINI, GULAB SINGH, KANU PRIYA AND SHIV KUMAR GIRI*
Department of Biotechnology, School of Basic and Applied Sciences, Maharaja Agrasen University, Baddi
(Solan)-174 103 (Himachal Pradesh), India
*(e-mail : goswamishiv@gmail.com; Mobile : 85720 49078)
(Received: December 20, 2022; Accepted: January 25, 2023)

ABSTRACT

Catalase (CAT, EC 1.11.1.6) is main endogenous antioxidant enzyme which assists in regulating the detrimental effects caused by reactive oxygen species as it converts hydrogen peroxide into water and oxygen. Many epidemiologic studies found association of CAT-21A/T (rs7943316) gene polymorphism with many lethal diseases like cancer. Aim of present study was to find allele and genotype frequency of CAT-21A/T (rs7943316) gene polymorphism in healthy population of Haryana, North India. Genomic DNA of 255 healthy individuals was isolated from whole blood by spin column kit. Genotypes of Catalase -21A/T (rs7943316) gene region were analyzed by PCR-based restriction fragment length polymorphism (RFLP) method. Fisher exact test was used for finding the allele frequency difference between Haryana and other geographical region population. The observed genotype frequencies of Catalase were compared with expected frequencies according to Hardy-Weinberg law. In the studied population, the genotype frequency of CAT (-21A/T) promoter region polymorphism was found to be 17.25, 42.35 and 40.40% for AA, AT and TT genotypes, respectively. Observed genotypic frequencies were not significantly different from expected frequencies, indicating that they were in Hardy-Weinberg equilibrium. Such data could be very useful for future genetic base studies in finding diseases susceptibility in Haryana population.
Key words : Frequency, catalase (CAT-21A/T) gene, polymorphisms, Haryana, population