Mohamadynejad Parisa, Saadat Mostafa
Department of Biology, College of Sciences, Shiraz University, Shiraz, 71454, Iran.
Mol Biol Rep. 2008 Dec;35(4):669-72. doi: 10.1007/s11033-007-9138-7. Epub 2007 Sep 14.
Several potential functional polymorphisms in the DNA base excision repair gene X-ray repair cross-complementing group 1 (XRCC1) have been reported. There has been no information on interindividual variability of Arg194Trp and Arg399Gln polymorphisms of XRCC1 in the Iranian population. Due to the association between the polymorphisms of XRCC1 and the risk of some types of cancers, the present study was done.
The genetic polymorphisms of XRCC1 were detected by PCR-based method in 707 healthy individuals from Shiraz population, (Fars province, southern Iran).
Considering that there was no statistically significant difference between males and females, the sex groups were pooled. The frequencies of 194Trp and 399Gln alleles were 9.05% and 33.95%, respectively. When both polymorphisms were considered, the linkage-disequilibrium was observed (D' = 0.8986, r(2) = 0.0413, P < 0.00001).
The present results indicated that the allelic frequencies in Iranian populations showed intermediate frequencies in comparison with European and other Asian countries.
已有报道称DNA碱基切除修复基因X射线修复交叉互补基因1（XRCC1）存在几种潜在的功能多态性。关于伊朗人群中XRCC1基因的精氨酸194色氨酸（Arg194Trp）和精氨酸399谷氨酰胺（Arg399Gln）多态性的个体间变异性尚无相关信息。鉴于XRCC1基因多态性与某些类型癌症风险之间的关联，开展了本研究。
采用基于聚合酶链反应（PCR）的方法，对来自伊朗南部法尔斯省设拉子人群的707名健康个体的XRCC1基因多态性进行检测。
考虑到男性和女性之间无统计学显著差异，将性别组进行合并。194Trp和399Gln等位基因频率分别为9.05%和33.95%。当同时考虑这两种多态性时，观察到存在连锁不平衡（D' = 0.8986，r(2) = 0.0413，P < 0.00001）。
目前的结果表明，与欧洲和其他亚洲国家相比，伊朗人群中的等位基因频率呈现出中等频率。
