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目的 探讨大肠癌错配修复基因hMLH1突变与微卫星不稳 (MSI)的关系。方法 采用二维DNA电泳和DNA测序技术检测hMLH1突变 ;采用PCR为基础的方法检测MSI。结果 76例大肠癌中检出hMLH1基因突变 8例 ,突变率为 10 .5% ,检出MSI 2 0例 ,检出率为 2 6 .3%。右侧大肠癌hMLH1突变和MSI的检出率显著高于左侧大肠癌 (P <0 .0 5 ) ,hMLH1突变与肿瘤大小、分化程度、组织学类型、浸润深度、淋巴结转移和临床病理分期无显著相关。将MSI分为高频率MSI(MSI H ,≥ 2个位点 ) 10例、低频率MSI(MSI L ,仅为 1个位点 ) 10例和MSI阴性 (MSS) 5 6例 3组 ,8例hMLH1基因突变均发生于MSI H组 ,而MSI L和MSS组未见有突变者。结论 hMLH1基因突变与MSI多发生于右侧大肠癌 ,MSI的发生与hMLH1突变有关
Objective To investigate the relationship between mutation of mismatch repair gene hMLH1 and microsatellite instability (MSI) in colorectal cancer. Methods Two-dimensional DNA electrophoresis and DNA sequencing were used to detect hMLH1 mutation. MSI was detected by PCR-based method. Results In 76 cases of colorectal cancer, 8 cases of hMLH1 gene mutation were detected. The mutation rate was 10.5%. MSI was detected in 20 cases with a detection rate of 26.3%. The positive rate of hMLH1 mutation and MSI in the right colorectal cancer was significantly higher than that in the left colorectal cancer (P <0.05). The mutation of hMLH1 correlated with tumor size, differentiation, histological type, depth of invasion, lymph node metastasis and clinical stage No significant correlation. MSI was divided into high frequency MSI (MSI H, ≥ 2 sites) in 10 cases, low frequency MSI (MSI L, only 1 site) and MSI negative MSS 56 cases in 3 groups, 8 cases hMLH1 gene mutation occurred in the MSI H group, while MSI L and MSS group no mutation. Conclusions The mutation of hMLH1 and MSI mostly occur in the right colorectal cancer. The occurrence of MSI is related to the mutation of hMLH1