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背景与目的:DNA修复基因XRCC1参与DNA损伤的碱基切除修复途径(BER),其Arg399G ln多态可以改变蛋白产物的DNA修复效能。本研究探讨XRCC1基因Arg399G ln多态与胃癌临床病理因素的关联性。方法:采用聚合酶链反应PCR变-性高效液相色谱分析(denaturing h igh perform ance liqu id chrom atography,DHPLC)方法对102例胃癌患者进行XRCC1基因Arg399G ln多态的基因型分析,比较基因型分布与胃癌组织临床病理特征之间的关系。结果:XRCC1基因Arg399G ln多态的Arg/Arg(GG),Arg/G ln(G→A)及G ln/G ln(AA)基因型在病例组中的分布频率分别为46(45.1%),48(47.1%),8(7.8%);含至少一个399G ln的基因型患胃癌的年龄明显要小(P=0.07);Arg399G ln多态性与胃癌的病理类型、肿瘤部位、组织分级、浸润深度及淋巴结转移、临床分期间没有显著关系(P>0.05)。结论:XRCC1基因399G ln等位基因可能是胃癌早年发病的危险因素之一;但不是判断胃癌侵袭相关的生物学行为的预测指标。这些结果还需要大样本量的胃癌分子流行病学研究加以验证。
BACKGROUND & OBJECTIVE: The DNA repair gene XRCC1 participates in the base excision repair pathway (BER) of DNA damage. The Arg399G ln polymorphism can alter the DNA repair efficiency of protein products. This study was to investigate the association between XRCC1 gene Arg399G ln polymorphism and clinicopathological factors in gastric cancer. Methods: Genotypes of Arg399G ln polymorphism of XRCC1 gene in 102 patients with gastric cancer were analyzed by polymerase chain reaction-high performance liquid chromatography (DHPLC) Distribution and clinicopathological features of gastric cancer. RESULTS: The distribution frequencies of Arg / Arg (GG), Arg / G ln (G → A) and G ln / G ln (AA) genotypes of XRCC1 Arg399G ln polymorphism in case group were 46 (45.1% , 48 (47.1%), 8 (7.8%). The genotypes with at least one 399G ln had significantly younger gastric cancer (P = 0.07). The Arg399G ln polymorphism was associated with the pathological type, tumor location, , Depth of invasion and lymph node metastasis, no significant relationship between clinical stages (P> 0.05). CONCLUSION: The 399G ln allele of XRCC1 gene may be one of the risk factors for early gastric cancer incidence. However, it is not a predictor of the biological behavior of gastric cancer invasion. These results also require a large sample of gastric cancer molecular epidemiological studies to be verified.