Absence of APE1 (Asp148Glu) gene polymorphism in North-West Indian population: A comparison with world population

Abstract This is the first study from North-West India that found absence of APE1 (Asp148Glu; T2197G) gene polymorphism. APE1 (Apurinic/Apyrimidinic endonuclease-1) is the key enzyme of base excision repair (BER) pathway. It is involved in repair of oxidative and alkylative DNA damage caused by exogenous factors. Genetic polymorphism in APE1 gene affects its endonuclease activity leading to decreased DNA repair capacity, which further results in genomic instability mediating various diseases. In this study, we evaluated genotype and allele frequencies of the APE1 (rs 1130409, Asp148Glu; T2197G) gene polymorphism in 450 subjects from North-West India and compared it with other Indian and world populations. Genomic DNA extraction was carried out using standard Phenol-chloroform method and ethanol precipitation. Genotyping was carried out by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) and run on 10% PAGE. Genotyping results were confirmed by direct DNA sequencing and running 10% of the samples in duplicate. It was found that APE1 (rs 1130409; Asp148Glu; T2197G) gene polymorphism was absent in all the 450 studied subjects. Our results were concordant with the study from U.S which showed absence of APE1 gene polymorphism. Our study also showed close similarity with a study from Andhra Pradesh, India having very less frequency, of 0.19%. The absence of APE1 (rs 1130409; Asp148Glu) gene polymorphism indicate that APE1 is not a key player for onset of diseases in our population.