ABO基因启动子CpG岛甲基化与鼻咽癌的相关性研究

The association between DNA methylation of CpG islands in promoter of the ABO gene and nasopharyngeal carcinoma

目的探讨鼻咽癌与ABO基因启动子CpG岛甲基化的相关性,为鼻咽癌的早期诊断提供依据。方法采用病例对照研究,取46例鼻咽癌患者和30例健康者的基因组DNA样本应用聚合酶链反应(polymerase chain reaction,PCR)-序列直接测定技术,检测ABO基因启动子DNA序列,采用重亚硫酸盐转化后克隆测序法检测ABO基因启动子CpG岛甲基化程度。结果鼻咽癌患者和健康人群的ABO基因启动子序列未发现有序列的不同。与正常对照标本比较,分析的ABO启动子区内共37个CpG位点的甲基化水平,发现鼻咽癌患者所有位点均检出甲基化,呈现不同程度的甲基化水平,其中nt-26C残基甲基化高达20.52%。结论鼻咽癌与ABO启动子CpG岛甲基化存在相关性,多个甲基化位点可能是鼻咽癌的特异性表现。

Objective To study the association between DNA methylation of CpG islands in promoter of the ABO gene and nasopharyngeal carcinoma.Methods The subjects were divided into case group（46 cases with nasopharyngeal carcinoma）and control group（30 healthy people）.The DNA sequences and the level of CpG methylation in ABO gene promoter were detected by PCR sequence-based typing method and bisulfite sequencing technique.Results There was no significant difference of the sequences of ABO gene promoter region between two groups.As compared with control group,the different levels of DNA methylation at 37 CpG sites of ABO gene promoter region appeared in case group,and the frequency of the methylated site at nt26 C residues in case group was 20.52%.Conclusion The DNA methylation of CpG islands in ABO gene promoter may be associated with nasopharyngeal carcinoma.Some methylation sites may be specific for nasopharyngeal carcinoma.