目的使用焦磷酸测序技术检测GSTP1、E-cadherin、RARβ、P16基因启动子区域在肝癌组织中的甲基化状态,为临床早期诊断肝癌奠定基础。方法取肝癌组织及肝硬化组织石蜡切片标本,使用焦磷酸测序仪检测GSTP1、E-cadherin、RARβ、P16基因启动子甲基化状态。结果肝癌与肝硬化组织相比较GSTP1基因超甲基化率为20%(4/20),E-cadherin基因超甲基化率为40%(8/20),RARβ基因超甲基化率为55%(11/20),P16基因超甲基化率为75%(15/20)。其中E-cadherin、RARβ、P16基因有统计学差异(P<0.05)。结论 E-cadherin、RARβ、P16基因在肝细胞癌患者血清中的异常甲基化表达程度,可作为肝癌早期辅助诊断的分子标志物,焦磷酸测序技术检测技术为实现临床早期诊断、早期肝癌治疗奠定了试验基础。 Objective To detect the methylation status of GSTP1, E-cadherin, RARβ and P16 promoter regions in hepatocellular carcinoma using pyrosequencing technology and lay a foundation for the early diagnosis of hepatocellular carcinoma. Methods Tissue sections of hepatocellular carcinoma (HCC) and cirrhosis tissues were obtained. The promoter methylation status of GSTP1, E-cadherin, RARβ and P16 genes was detected by pyrosequencing. Results The hypermethylation rate of GSTP1 gene in hepatocellular carcinoma was 20% (4/20) compared with that in cirrhosis, and the hypermethylation rate of E-cadherin gene was 40% (8/20). The hypermethylation rate of RARβ gene was 55% (11/20), P16 gene hypermethylation rate was 75% (15/20). The E-cadherin, RARβ, P16 genes were statistically different (P <0.05). Conclusion The abnormal expression of E-cadherin, RARβ and P16 in serum of patients with hepatocellular carcinoma can be used as a molecular marker for early diagnosis of hepatocellular carcinoma. Detection of pyrosequencing technology in early diagnosis of early hepatocellular carcinoma Lay the foundation for the experiment.