【摘 要】
：
MLH1是位于3p21.3上的一个DNA错配修复基因,其异常与多种肿瘤相关.为探索食管鳞癌中MLH1基因改变及其与微卫星不稳定(MSI)的关联情况,采用微卫星分析和RT-PCR方法检测了14个
【机 构】
：
中国协和医科大学中国医学科学院肿瘤医院肿瘤研究所分子肿瘤学国家重点实验室,咸宁医学院病理室,华中科技大学同济医学院病理系
论文部分内容阅读
MLH1是位于3p21.3上的一个DNA错配修复基因,其异常与多种肿瘤相关.为探索食管鳞癌中MLH1基因改变及其与微卫星不稳定(MSI)的关联情况,采用微卫星分析和RT-PCR方法检测了14个微卫星标志在食管癌中的状况及MLH1转录水平的表达,发现35%的食管癌出现至少一个微卫星的不稳定,66.7%的肿瘤在MLH1基因内标志D3S1611位点表现为杂合性丢失,但是MLH1没有明显的mRNA表达下调.MSI与食管癌分期、分级、淋巴结转移、患者年龄和性别等参数及MLH1基因杂合性丢失(LOH)之间无统计学意义的相关性.这些结果表明:食管癌中MLH1存在较高频率的等位基因丢失,但其mRNA表达水平并无明显异常;所测微卫星标志的不稳定是食管癌的频发事件,与MLH1基因LOH不存在必然联系.
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