Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh, Saudi Arabia.
Biol Res. 2013;46(2):161-7. doi: 10.4067/S0716-97602013000200007.
DNA repair is one of the central defense mechanisms against mutagenic exposures. Inherited SNPs of DNA repair genes may contribute to variations in DNA repair capacity and susceptibility to cancer. Due to the presence of these variants, inter-individual and ethnic differences in DNA repair capacity have been established in various populations. Saudi Arabia harbors enormous genetic and cultural diversity. In the present study we aimed to determine the genotype and allele frequencies of XRCC1 Arg399Gln (rs25487), XRCC3 Thr241Met (rs861539), XPD Lys751Gln (rs13181), and OGG1 Ser326Cys (rs1052133) gene polymorphisms in 386 healthy individuals residing in the central region of Saudi Arabia and compare them with HapMap and other populations. The genotype and allele frequencies of the four DNA repair gene loci in central Saudi population showed a distinctive pattern. Furthermore, comparison of polymorphisms in these genes with other populations also showed a unique pattern for the central Saudi population. To the best of our knowledge, this is the first report that deals with these DNA repair gene polymorphisms among the central Saudi population.
DNA 修复是抵御诱变暴露的核心防御机制之一。DNA 修复基因的遗传 SNP 可能导致 DNA 修复能力的差异和癌症易感性。由于这些变体的存在，不同人群的 DNA 修复能力存在个体间和种族间的差异。沙特阿拉伯拥有巨大的遗传和文化多样性。在本研究中，我们旨在确定居住在沙特阿拉伯中部地区的 386 名健康个体中 XRCC1 Arg399Gln(rs25487)、XRCC3 Thr241Met(rs861539)、XPD Lys751Gln(rs13181)和 OGG1 Ser326Cys(rs1052133)基因多态性的基因型和等位基因频率，并将其与 HapMap 和其他人群进行比较。沙特阿拉伯中部人群中这四个 DNA 修复基因座的基因型和等位基因频率呈现出独特的模式。此外，对这些基因中多态性与其他人群的比较也显示出沙特阿拉伯中部人群的独特模式。据我们所知，这是首次报道沙特阿拉伯中部人群中这些 DNA 修复基因多态性的情况。
