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目的探讨眼发育调控基因Pax6在人视网膜母细胞瘤中的表达情况。设计实验性研究。研究对象新鲜视网膜母细胞瘤肿瘤组织6例,正常视网膜组织6例,视网膜母细胞瘤细胞株2例。方法采用逆转录酶链反应(RT-PCR)、Western蛋白印迹方法检测视网膜母细胞瘤肿瘤组织中Pax6 mRNA和Pax6蛋白的表达,以正常视网膜组织作为对照。同时检测SO-Rb50、Y79视网膜母细胞瘤细胞株中Pax6 mRNA和Pax6蛋白的表达情况。主要指标视网膜母细胞瘤新鲜肿瘤组织及细胞株中Pax6基因的表达。结果RT-PCR和Western蛋白印迹检测显示,在6例视网膜母细胞瘤肿瘤组织及两种视网膜母细胞瘤细胞株中均可见Pax6 mRNA及Pax6蛋白表达。与正常视网膜组织相比较,视网膜母细胞瘤肿瘤组织中Pax6 mRNA及Pax6蛋白表达水平增高(P均<0.01)。结论Pax6基因的异常表达可能参与并导致人眼视网膜母细胞瘤的发生和发展。
Objective To investigate the expression of eye development regulatory gene Pax6 in human retinoblastoma. Design experimental research. The subjects were fresh retinoblastoma tumor tissue in 6 cases, 6 cases of normal retinal tissue, retinoblastoma cell line in 2 cases. Methods The expression of Pax6 mRNA and Pax6 protein in retinoblastoma tissues were detected by reverse transcriptase-polymerase chain reaction (RT-PCR) and Western blotting. The normal retinal tissues were used as control. At the same time, the expression of Pax6 mRNA and Pax6 protein in SO-Rb50 and Y79 retinoblastoma cell lines were detected. The main index of retinoblastoma fresh tumor tissue and cell line Pax6 gene expression. Results RT-PCR and Western blotting showed that Pax6 mRNA and Pax6 protein were detected in 6 cases of retinoblastoma and two retinoblastoma cell lines. Compared with normal retinal tissue, the expression of Pax6 mRNA and Pax6 protein in retinoblastoma tissues were increased (all P <0.01). Conclusion The abnormal expression of Pax6 gene may participate in and lead to the occurrence and development of human retinoblastoma.