• Pooja Maurya
• Krishna Prakash

Endogenous and exogenous mutagens regularly damage DNA in most cells. Unrepaired damaged DNA can cause apoptosis or uncontrolled cell proliferation, which can lead to cancer. If cell machinery detects DNA damage, a variety of reactions may occur to limit replication in the presence of genetic errors. Alternatively, the damage to the DNA can be repaired, allowing the cell to replicate normally. XRCC1 is a protein involved in base excision repair (BER). Variants in the XRCC1 gene may change protein structure/function or result in alternatively spliced proteins, affecting BER efficiency and individual susceptibility to cancer. SNPs (Single nucleotide polymorphisms) are single base mutations with a frequency of more than 1% in the population. Several studies have found a link between SNP and several types of cancer. Arg194Trp is one of the most researched SNPs in the XRCC1 gene in humans. Many studies showed association of Arg194Trp SNP with increased risk of cancer. No such study has been done in local population of Patna, Bihar. In this study, we studied the genotype of 22 control samples in population of Patna. We found that among 22 samples, 5 samples showed heterozygous Arg194Trp variant while 17 samples showed normal wild type Arg194Arg genotype. No sample with homozygous Trp194Trp was obtained. We have also checked the association of SNP in male and female samples. Further we have studied the association with age groups above 60 years and below 60 years. This study will act as control when studying association between XRCC1 Arg194Trp polymorphism and cancer.

XRCC1, SNP, Polymorphism, Genotype, RFLP

"SNP study of XRCC1 gene in local population of Patna, Bihar", International Journal of Emerging Technologies and Innovative Research (www.jetir.org), ISSN:2349-5162, Vol.9, Issue 3, page no.a439-a448, March-2022, Available :http://www.jetir.org/papers/JETIR2203052.pdf

"SNP study of XRCC1 gene in local population of Patna, Bihar", International Journal of Emerging Technologies and Innovative Research (www.jetir.org | UGC and issn Approved), ISSN:2349-5162, Vol.9, Issue 3, page no. ppa439-a448, March-2022, Available at : http://www.jetir.org/papers/JETIR2203052.pdf