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上皮性卵巢癌中CDH1基因突变/甲基化对上皮型钙黏附素表达的影响 被引量:2

Effects of CDH1 gene mutation/methylation on expression of E-cadherin in the epithelial ovarian carcinomas
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摘要 目的研究上皮性卵巢癌组织中CDH1基因突变和甲基化改变情况,分析对上皮型钙黏附素(E-cadherin)表达的影响。方法应用色谱分析-测序和甲基化特异的聚合酶链反应(methylation specific PCR,MSP)的方法分析80例上皮性卵巢癌组织和38例正常卵巢组织的CDH1基因突变和启动子区甲基化情况。采用免疫组织化学方法检测上述标本中E-cadherin表达的情况,并分析CDH1基因突变和启动子区甲基化情况对E-cadherin蛋白表达的影响。结果80例卵巢癌组织中仅1例检测到外显子7错义突变;34例检出CDH1基因启动子区甲基化,有淋巴结转移组中甲基化频率明显高于无淋巴结转移组(74.3%vs17.8%,P<0.05);38例正常卵巢组织中未检测到CDH1突变和甲基化。卵巢癌组织中有CDH1基因启动子甲基化者E-cadherin表达明显低于无甲基化者(P<0.05)。结论CDH1基因突变在上皮性卵巢癌少见,CDH1基因启动子区甲基化可能是导致E-cadherin蛋白表达减低的主要原因。 Objective To investigate the mutation and the methylation of CDH1 gene in human epithelial ovarian carcinomas, and to explore the effects of them on expression of E-cadherin. Methods The mutation and the methylation of CDH1 gene in 80 primary epi- thelial ovarian carcinoma tissues and 38 normal ovarian tissues were detected by chromatographic analysis and methylation specific PCR (MSP). The expression of E-cadherin was examined by immunohistochemistry. Results Only 1 case of missense mutation and 34 ca- ses of CDH1 gene promoter methylation were identified in 80 ovarian carcinoma tissues. The frequency of methyla/ion was significantly higher in the primary epithelial ovarian carcinoma tissues with local lymph node metastasis than that without (26/35 vs 8/45, P 〈 0.05 ). Neither CDH1 mutation nor methylation was found in 38 normal ovarian tissues. The expression of E-cadherin was much lower in those with methylated CDH1 promoters than these without methylated CDH1 promoters ( P 〈 O. 05 ). Conclusion The mutation of CDH1 gene is rare in epithelial ovarian carcinoma. The methylation of CDH1 gene promoter region may play a prime role in the reduc- tion of E-cadherin expression.
出处 《山西医科大学学报》 CAS 2010年第3期214-218,共5页 Journal of Shanxi Medical University
关键词 卵巢癌 E-钙黏附素 甲基化 免疫组织化学 逆转录酶多聚酶链反应 基因突变 ovarian carcinomas E-cadherin methylation immunohistochemistry RT-PCR gene mutation
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