摘要目的 确定与肝细胞癌(HCC)发生相关的基因组拷贝数变异区域.方法 采用GeneChip Human Mapping 500K单核苷酸多态性(SNP)芯片分析肝癌细胞系TJ3ZX-01中全基因组拷贝数的变异情况.根据SNP芯片分析的结果 ,利用荧光定量聚合酶链反应(FQ-PCR),将筛选得到的4个候选扩增区域在41例HCC组织中进行验证.结果 SNP芯片分析结果 显示,在1q21.2、1q22～23.1、7p22.1和22q13.1上存在着4个拷贝数扩增的候选区域.对序列标签位点(STS)的FQ-PCR检测结果 显示,位于1q21.2的STS RH69823位点在56.1%(23/41)的HCC组织中扩增,位于1q22～23.1的STS RH38210位点在80.5%(33/41)的HCC组织中扩增,位于7p22.1的STS RH75535位点在75.6%(31/41)的HCC组织中扩增,而位于22q13.1的STS RH57885位点仅在31.7%(13/41)的HCC组织中扩增.结论 经SNP芯片分析筛选与FQ-PCR验证的4个扩增区域中,有3个区域在超过50.0%的HCC组织中显示扩增,该区域的扩增可能与HCC的发生存在着某种联系.

abstractsObjective To screen and determine the regions of copy number variation (CNV) associated with hepatocellular carcinoma (HCC) using SNP army and fluorescence quantitative PCR. Methods The CNV from HCC cell line TJ3ZX-O1 was analyzed using GeneChip Human Mapping 500K SNP array. According to the data obtained by SNP array analysis, four candidate amplification regions were verified in 41 primary HCC samples by fluorescence quantitative PCR. Results Four regions of copy number amplification at 1q21.2, 1q22～23.1, 7p22.1 and 22q13.1 were detected by SNP array analysis. The four candidate amplicons occurred in 56.1% (23/41) of HCC samples at 1q21.2; 80.5% (33/41) at 1q22～23.1 ; 75.6% (31/41) at 7p22.1 and 31.7% ( 13/41 ) at 22q13.1 analyzed with sequence tagged site (STS) markers by quantitative PCR. Conclusion In four candidate amplification regions selected by SNP array analysis and detected by fluorescence quantitative PCR, three amplification regions show increased copy number in more than 50.0% HCC tissues. This result indicates that these amplification regions are associated with pathogenesis of hepatocellular carcinoma.