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目的:探讨错配修复基因hMSH2多态位点IVS1+9C→G在胃癌发病中的作用。方法:应用PCRDHPLC和DNA序列分析技术检测126例健康人、72例散发性胃癌患者和71例有家族史胃癌患者的外周血DNA,采用病例对照研究方法分析hMSH2基因IVS1+9C→G多态性与胃癌发病的关系。结果:42例(33.3%)健康人、29例(40.3%)散发性胃癌患者和31例(43.7%)有家族史的胃癌患者检出hMSH2基因IVS1+9C→G。低龄(<50岁)胃癌患者中hMSH2基因IVS1+9C→G检出率(60%)高于正常人群(33.3%),P<0.05;在散发性胃癌患者中,病理分化程度低者其检出率(66.7%)高于分化程度较高者(19.2%),P<0.01;有家族史胃癌患者的检出率(43.7%)虽高于健康人(33.3%),但无显著性差异(P>0.05)。结论:hMSH2基因多态位点IVS1+9C→G可能影响部分胃癌的发病年龄,并对胃癌的分化程度起一定作用。提示hMSH2基因IVS1+9C→G的筛查可能成为胃癌风险评估的指标。
Objective: To investigate the role of mismatch repair gene hMSH2 polymorphism site IVS1 + 9C → G in the pathogenesis of gastric cancer. Methods: DNA of peripheral blood was detected in 126 healthy people, 72 patients with sporadic gastric cancer and 71 patients with family history of gastric cancer by polymerase chain reaction-restriction fragment length polymorphism (PCR) and DNA sequencing. The case-control study was used to analyze the polymorphisms of hMSH2 IVS1 + 9C → G And the incidence of gastric cancer. Results: The hMSH2 gene IVS1 + 9C → G was detected in 42 (33.3%) healthy individuals, 29 (40.3%) sporadic gastric cancer patients and 31 (43.7%) gastric cancer patients with family history. The detection rate of IVS1 + 9C → G in hMSH2 gene in young patients (<50 years old) was higher than that in normal people (33.3%), P <0.05. In sporadic gastric cancer patients, the detection rate of IVS1 + The positive rate (66.7%) was higher than that of the higher degree (19.2%), P <0.01. The detection rate of gastric cancer patients with familial history was 43.7% higher than that of healthy people (33.3%), but no significant difference (P> 0.05). Conclusion: The polymorphism of hMSH2 gene IVS1 + 9C → G may affect the age of onset of gastric cancer and play a role in the differentiation of gastric cancer. This suggests that the screening of hMSH2 gene IVS1 + 9C → G may be an indicator of gastric cancer risk assessment.