摘要
目的 通过筛查肝细胞癌(HCC)RUNX3遗传学和表遗传学异常,拟明确RUNX3基因在HCC发病过程中的作用。方法 采用聚合酶链反应(PCR)单链构象多态性、杂合缺失(LOH)分析、测序以及DNA甲基化特异的PCR技术对90例HCC RUNX3基因突变、LOH及甲基化状态进行检测,对RUNX3基因缺失、甲基化结果与各临床病理参数的关系进行分析。结果 未发现突变病例;但发现3个单核苷酸多态性分别存在于外显子1和4;LOH分析表明30.6％(11/36)的病例存在LOH;54.4％(49/90)的病例存在RUNX3基因高甲基化;RUNX3 LOH与HCC门静脉癌栓、肝内转移和微血管受侵差异有显著性(x^2值分别为4.729、4.581、4.581,P值均<0.05)。结论 HCC RUNX3基因存在高频率的LOH和高甲基化;RUNX3基因的异常可能在HCC发病过程中起重要作用。
Objective In order to elucidate role of RUNX3 gene in hepatocarcinogenesis, we detected genetic and epigenetic alteration of RUNX3 gene in hepatocellular carcinoma (HCC). Methods PCR-SSCP, analysis of loss of heterozygosity (LOH), sequencing and methylation-specific PCR (MSP) were used to detect mutation, LOH and DNA methylation of RUNX3 gene in 90 HCCs. Result No mutation was found, but three single-nucleotide polymorphisms (SNP) were found and distributed over exonl and exon4. 30.6% (11/36) of cases showed LOH; 54.4% (49/90) of cases was in hypermethylation. There is a significant correlation between LOH and major portal vein invasive or micro vessel invasion or intrahepatic metastasis (P<0.05). Conclusion High frequent hypermthylation and LOH of RUNX3 gene were found in HCC. Aberrant RUNX3 gene may play an important role in the development of HCC.
出处
《中华肝脏病杂志》
CAS
CSCD
2004年第4期227-230,共4页
Chinese Journal of Hepatology
