论文部分内容阅读
目的 :探讨错配修复基因变异与中国人散发性大肠癌发病年龄之间的关系。方法 :随机选取 1 0 0例临床初诊的散发性大肠癌患者 ,配对提取手术切除的癌组织和同源正常组织的基因组DNA ,检测并分析癌细胞微卫星DNA不稳定性 (MSI)。结果 :46/1 0 0 (46 % )的癌组织MSI阳性 (MSI+ ) ,其中 1 8%为MSI+ H ,2 8%MSI+ L。按年龄分组分析表明 ,发病年龄 <45岁的大肠癌患者中MSI+ 检出率明显高于≥ 65岁的大肠癌患者 (P <0 .0 5) ,且MSI+ 的检出率与患者的发病年龄呈负相关 (r =- 0 .95 ,P <0 .0 5) ,但与癌细胞的分化及患者的临床分期无关。结论 :中国人散发性大肠癌中错配修复基因功能的丧失可能出现在癌症发生的早期 ,可能参与构成部分散发性大肠癌发病的遗传背景因素
Objective: To investigate the relationship between the gene mutation of mismatch repair and the age of onset of sporadic colorectal cancer in Chinese. Methods: One hundred and ten cases of newly diagnosed patients with sporadic colorectal cancer were randomly selected. The genomic DNA of the resected cancerous tissues and homologous normal tissues was extracted by paired method. The microsatellite DNA instability (MSI) of cancer cells was detected and analyzed. RESULTS: 46/1 0 (46%) of the cancerous tissues were MSI positive (MSI +), of which 18% were MSI + H and 28% MSI + L. Analysis by age group showed that the detection rate of MSI in colorectal cancer patients with onset age <45 years was significantly higher than that in patients ≥ 65 years old (P <0.05), and the detection rate of MSI + (R = - 0.95, P <0.05), but not with the differentiation of cancer cells and the clinical stage of patients. Conclusion: The loss of function of mismatch repair gene in Chinese sporadic colorectal cancer may occur in the early stage of cancer, and may be involved in the genetic background of some sporadic colorectal carcinomas