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[与肝细胞癌相关的拷贝数扩增区域的鉴定]

[Identification of the regions of copy number amplification associated with hepatocellular carcinoma].

作者信息

Zhang Shi-guang, Gao Ying-tang, Song Wen-qin, Du Zhi, Yang Bin, Wang Yi-Jun, Zhu Zheng-yan

机构信息

College of Life Science, Nankai University, Tianjin 300071, China.

出版信息

Zhonghua Zhong Liu Za Zhi. 2009 Aug;31(8):566-70.

Abstract

OBJECTIVE

To screen and determine the regions of copy number variation (CNV) associated with hepatocellular carcinoma (HCC) using SNP array and fluorescence quantitative PCR.

METHODS

The CNV from HCC cell line TJ3ZX-01 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 approximately 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 approximately 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.

摘要

目的

利用单核苷酸多态性(SNP)芯片和荧光定量聚合酶链反应(PCR)筛选并确定与肝细胞癌(HCC)相关的拷贝数变异(CNV)区域。

方法

使用基因芯片人类基因组500K SNP芯片分析HCC细胞系TJ3ZX - 01的CNV。根据SNP芯片分析获得的数据,通过荧光定量PCR在41例原发性HCC样本中验证了四个候选扩增区域。

结果

通过SNP芯片分析检测到1q21.2、1q22约23.1、7p22.1和22q13.1四个拷贝数扩增区域。通过定量PCR分析,使用序列标签位点(STS)标记,这四个候选扩增子在1q21.2的HCC样本中出现率为56.1%(23/41);在1q22约23.1为80.5%(33/41);在7p22.1为75.6%(31/41);在22q13.1为31.7%(13/41)。

结论

在通过SNP芯片分析选择并经荧光定量PCR检测的四个候选扩增区域中,三个扩增区域在超过50.0%的HCC组织中显示拷贝数增加。该结果表明这些扩增区域与肝细胞癌的发病机制相关。

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