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目的 探讨散发性结肠癌中微卫星不稳定性及其与错配修复基因hMSh 3和hMSh 6的关系。方法 应用放射性同位素为基础的聚合酶链式反应 (PCR)技术检测了 48例散发性结直肠癌中 4个位点 (D 2S 1 2 3、BAT -2 6、D 1 7S2 61、D 1 7S 799)的微卫星不稳定性和错配修复基因hMSh3和hMSh6的突变。结果 (1 )散发性结直肠癌的hMSh 3、hMSh6基因突变率分别为 :1 0 .4%、2 5 % ;(2 )D 2S 1 2 3、BAT -2 6、D 1 7S 2 61、D 1 7S 7994个位点的不稳定性检出率分别为 1 2 .5 %、1 8.8%、1 0 .4%、8.3 % ;(3 )hMSh 3和hMSh 6基因突变和微卫星不稳定性相关显著 (P <0 .0 1 )。结论 (1 )错配修复基因突变引起微卫星不稳定性是散发性结肠癌发生的重要机制 ;(2 )部分微卫星不稳定性是由错配修复基因hMSh 3和hMSh 6突变引起 ,其余的微卫星不稳定性可能涉及到其它错配修复基因 ;(3 )可通过单独检测BAT -2 6微卫星位点的不稳定性来确定RER阳性 ,这在肿瘤的防治中将是一种更加简单、准确的分子手段而应用于临床。
Objective To investigate the relationship between microsatellite instability and mismatch repair genes hMSh 3 and hMSh 6 in sporadic colon cancer. Methods Radioisotope-based polymerase chain reaction (PCR) technique was used to detect 4 loci in 48 sporadic colorectal cancers (D 2S 1 2 3, BAT -26, D 1 7S2 61, D 1 7S 799) Microsatellite instability and mutations in mismatch repair genes hMSh3 and hMSh6. Results (1) The mutation rates of hMSh 3 and hMSh6 genes in sporadic colorectal cancer were 10.4% and 25%, respectively; (2) D 2S 1 2 3, BAT -2 6, and D 1 7S 2 61. The detection rate of D 1 7S 7994 loci was 12.5%, 18.8%, 10.4%, 8.3%, respectively; (3) hMSh 3 and hMSh 6 mutations and microsatellite instability Sex related was significant (P < 0.01). Conclusions (1) Mutation of mismatch repair gene causes microsatellite instability is an important mechanism of sporadic colon cancer; (2) Part of the microsatellite instability is caused by the mismatch repair gene hMSh 3 and hMSh 6 mutations, the rest Microsatellite instability may involve other mismatch repair genes; (3) RER positivity can be determined by detecting the instability of the BAT-26 microsatellite locus alone, which will be a much simpler strategy in tumor prevention and control. Accurate molecular methods are used in clinical practice.