论文部分内容阅读
目的 XRCC1单核苷酸多态性与肿瘤易感性关系尚存在分歧,胆管癌与XRCC1基因多态性的研究较少,本文探讨XRCC1基因多态性在胆管癌发病中的作用。方法采用聚合酶链式反应-限制性片段长度多态性方法检测59例胆管癌和100例健康体检者的XRCC1基因codons194、399位点的基因分型,并分析不同基因型与胆管癌发病风险的关系。结果 XRCC1基因codon194多态性位点的Arg/Arg、Arg/Trp和Trp/Trp基因型在胆管癌中的频率分别为49.2%、47.5%和3.4%,以Arg/Arg基因型作为参照,Arg/Trp、Trp/Trp和Arg/Trp+Trp/Trp基因型均不增加胆管癌的发病风险;XRCC1基因codon399多态性位点的Arg/Arg、Arg/Gln和Gln/Gln基因型在胆管癌中的频率分别为54.2%、35.6%和10.2%,以Arg/Arg基因型作为参照,Arg/Gln、Gln/Gln和Arg/Gln+Gln/Gln基因型均不增加胆管癌的发病风险;以Arg等位基因作参照,Trp等位基因(codons194)及Gln等位基因(codons399)与其相比,不增加胆管癌的发病风险。按性别分析,或按194和399位点的联合作用分析,XRCC1基因多态性均不增加胆管癌的发病风险。结论 XRCC1基因codons194、399位点的多态性可能与胆管癌的遗传易感性无关。
Objective XRCC1 SNPs are still associated with tumor susceptibility. There are few studies on the relationship between the polymorphisms of XRCC1 and cholangiocarcinoma. In this paper, the role of XRCC1 gene polymorphisms in the pathogenesis of cholangiocarcinoma was explored. Methods The genotypes of codons194 and 399 of XRCC1 gene in 59 cases of cholangiocarcinoma and 100 cases of healthy subjects were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotypes of codons194 and 399 were analyzed. Relationship. Results The frequencies of Arg / Arg, Arg / Trp and Trp / Trp genotypes in codon194 polymorphisms of XRCC1 gene were 49.2%, 47.5% and 3.4% respectively in the cholangiocarcinoma. Arg / Arg genotype was used as reference and Arg / Trp, Trp / Trp and Arg / Trp + Trp / Trp genotypes did not increase the risk of cholangiocarcinoma; Arg / Arg, Arg / Gln and Gln / Gln genotypes of codon399 polymorphism site of XRCC1 gene in cholangiocarcinoma The frequencies of Arg / Gln, Gln / Gln and Arg / Gln + Gln / Gln genotypes did not increase the risk of cholangiocarcinoma based on the Arg / Arg genotype. Arg allele as a reference, Trp allele (codons194) and Gln allele (codons399) compared with the same, does not increase the risk of cholangiocarcinoma. According to the sex analysis or the combination of 194 and 399 sites, XRCC1 gene polymorphism did not increase the risk of cholangiocarcinoma. Conclusion The polymorphisms of codons194 and 399 of XRCC1 gene may not be related to the genetic predisposition of cholangiocarcinoma.