ABSTRACT
Introduction@#Base excision repair (BER) is mainly responsible for the correction of small base changes of DNA damage. BER pathway involved many enzymes including OGG1 and XRCC1. The defective DNA repair is associated with an increased risk of various cancers including hematologic malignancies-leukemia and myelodysplastic syndrome (MDS). However, it is deniably these polymorphisms alter the susceptibility and clinical outcome of MDS patients.@*The aim@#This study was to evaluate the impact of polymorphisms in gene encoding one protein of BER system: XRCC1 Arg399Gln in MDS and healthy population.@*Methods@#In this study, we recruited 60 health control group [median 47.9 years, 9 MDS subjects [median 56.6 years] were included in this study. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Allele and genotype frequencies were calculated by direct counting.@*Result@#The frequencies of genotypes of XRCC1 Arg399Gln were as follows: Arg /Arg 1 (11%), Arg/Gln 6 (66%), Gln/Gln 2 (22%) in MDS and Arg /Arg 18.4%, Arg/Gln40%, Gln/Gln41.6% in health control for XRCC1 Arg399Gln. The result revealed that genotypes Arg399Gln increased the risk of MDS@*In conclusion@#this study is the first to analyze XRCC1 SNPs and their associated risk of MDS in Mongolian samples. To fully understand the role of DNA damage and DNA repair in the MDS, prospective studies are needed and other genes (OGG1 Ser326Cys, MUTYH Gln324His, APE Asp148Glu) of base excision repair pathway should be analyzed.