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目的利用鼻咽癌组织中Cyclin D1基因表达的研究优化策略和方法,探索与定位鼻咽癌家族致病基因。方法选择2008年1月至2012年6月间收治的鼻咽癌家系中患者(观察组,5例)和家系中非鼻咽癌、非肿瘤其他病例(对照组,14例),均采集患者病理组织标本与活检标本,进行免疫组化分析与逆转录聚合酶链式反应(RT-PCR)分析。结果 RT-PCR检测显示,观察组患者Cyclin D1 mRNA表达阳性率为100.0%,而对照组患者的表达阳性率为28.6%,差异有统计学意义(P<0.05)。免疫组化结果显示,Cyclin D1在鼻咽癌组织中表达的阳性信号为棕黄色,主要位于细胞核,呈散在分布。观察组5例患者中,Cyclin D1拷贝数改变差异有统计学意义(P<0.05)。结论 Cyclin D1在鼻咽癌组织中的表达明显高于非癌组织,其为鼻咽癌的家族候选致病基因,参与了鼻咽癌的发病机制。
OBJECTIVE: To study the optimized strategy and method of Cyclin D1 gene expression in nasopharyngeal carcinoma (NPC) to explore and locate the gene of familial pathogenicity of NPC. Methods From January 2008 to June 2012, patients in the pedigree of nasopharyngeal carcinoma (observation group, 5 cases) and non-nasopharyngeal carcinoma in the pedigree and other non-tumor cases (control group, 14 cases) were enrolled. All patients Pathological specimens and biopsy specimens, immunohistochemical analysis and reverse transcription polymerase chain reaction (RT-PCR) analysis. Results The positive rate of Cyclin D1 mRNA in the observation group was 100.0%, while the positive rate in the control group was 28.6%. The difference was statistically significant (P <0.05). The results of immunohistochemistry showed that the positive signal of Cyclin D1 expression in nasopharyngeal carcinoma was brown and yellow, mainly located in the nucleus and scattered. The observation group of 5 patients, Cyclin D1 copy number change was statistically significant (P <0.05). Conclusion The expression of Cyclin D1 in nasopharyngeal carcinoma was significantly higher than that of non-cancerous tissue, which is a candidate gene of NPC which is involved in the pathogenesis of nasopharyngeal carcinoma.