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目的 探讨DNA错配修复基因、微卫星不稳定性与散发性结直肠癌发生发展的关系。方法 采用放射性同位素为基础的聚合酶链式反应 (PCR)技术 ,对 4 8例散发性结直肠癌中错配修复基因和四个位点微卫星不稳定性进行了检测。结果 4 8例散发性结直肠癌中hmsh3、hmsh6基因突变率分别为 10 4 %和 2 5 % ,四个位点微卫星不稳定性阳性率分别为D2S12 3(12 5 % )、BAT 2 6 (18 8% )、D17S2 6 1(10 4 % )、D17S799(8 3% ) ,hmsh3、hmsh6基因突变和微卫星不稳定性多为分化不良的癌 ,多位于右半结肠 ,而与患者的性别、淋巴结转移、Ducks分期无关。结论 错配修复基因突变与微卫星不稳定性是散发性结直肠癌发生的早期分子事件 ,是除LOH致癌途径以外的又一新的致癌途径
Objective To investigate the relationship between DNA mismatch repair gene, microsatellite instability and the development of sporadic colorectal cancer. Methods Radioimmunoassay-based polymerase chain reaction (PCR) was used to detect 48 mismatch repair genes and four sites of microsatellite instability in 48 cases of sporadic colorectal cancer. Results The mutation rates of hmsh3 and hmsh6 in 48 sporadic colorectal carcinomas were 10 4% and 25%, respectively. The positive rates of microsatellite instability at 4 sites were D2S12 3 (12 5%), BAT 2 6 (18.8%), D17S2 6 1 (104%), D17S799 (83%), hmsh3, hmsh6 gene mutation and microsatellite instability were mostly poorly differentiated cancers, mostly in the right colon, but not in patients with Sex, lymph node metastasis, Ducks stage unrelated. Conclusion Mismatch repair gene mutation and microsatellite instability are early molecular events in sporadic colorectal cancer and are another new carcinogenic pathway besides LOH carcinogenesis