修复基因XRCC1多态性在肝癌发病机制中的作用

The study of Polymorphisms of DNA Repair Gene XRCC1 and Hepatic Cancer

目的探讨DNA损伤修复基因XRCC1多态与肝癌遗传易感性的关系。方法本研究选取了60例肝癌患者及60例正常自愿对照者进行研究,采用限制性片段长度多态性方法,比较不同基因型与肝癌发病的关系。结果变异型等位基因XRCC1194位点Arg/Trp及Trp/Trp的出现率在肝癌组和对照组中分别是31.67%和11.67%,P<0.05;而野生基因型XRCC1Arg/Arg出现率在肝癌组和对照组中分别是68.33%和88.33%,P>0.05。变异型等位基因XRCC1280Arg/His及His/His的出现率在肝癌组和对照组中分别是30.00%和15.00%,P<0.05;而野生基因型XRCC1Arg/Arg出现率在肝癌组和对照组中分别是70.00%和85.00%,P>0.05。变异型等位基因XRCC1399Arg/Gln及Gln/Gln的出现率在肝癌组和对照组中分别是36.67%和13.33%,P<0.05;而野生基因型XRCC1Arg/Arg出现率在肝癌组和对照组中分别是63.33%和86.67%,P>0.05。结论 XRCC1基因Arg194Trp、Arg280His及Arg399Gln三个位点的基因单核苷酸多态在肝癌的发生机制中起着至关重要的作用。

To evaluate the association between polymorphisms XRCC1 and the risk of hepatic can- cer. [Methods] We genotyped the two polymorphisms by using polymerase chain reaction-restriction fragment length polymo rphisms （PCR-RFLP）, to study the polymorphisms XRCC 1 and the hepatic cancer in 60 histological confirmed hepatic cancer patients and 60 free controls. [ Results ] The frequency of Arg/Trp and Trp/Trp for variant XRCC1 194 in cases and controls were 31.67% and 11.67%, respectively, obvious higher in patients than in con- trois, P 〈0.05. But the frequency of Arg/Arg irL cases and controls were 68.33% and 88.33%, P 〉0.05. The frequen- cy of Arg/His and His/His for variant XRCC1 280 in cases and controls were 30.00% and 15.00%, respectively, ob- vious higher in patients than in controls, P 〈0.05. But the frequency of Arg/Arg in cases and controls were 70.00% and 85.00%, P 〉0.05. The frequency of Arg/Gln and Trp/Gln for variant XRCC1 399 in cases and controls were 36.67% and 13.33%, respectively, obvious higher in patients than in controls, P 〈0.05. But the frequency of Arg/Arg in cases and controls were 63.33% and 86.67%, P 〉0.05. [Conclusion] The XRCC1 Arg194Trp, Arg280His and Arg399Gln mac contribute to the developin hepatic cancer.