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首页> 外文期刊>BMC Medical Genomics >Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma
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Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma

机译：数字核型分析揭示了肝细胞癌7q21.3位点的可能靶基因

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Background Hepatocellular carcinoma (HCC) is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. Methods A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche) was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. Results A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64%) mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%), 11 (21%), 11 (21%) and 23 (44%) of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Conclusions Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus.
机译：背景技术肝细胞癌（HCC）是一种在世界范围内在中国发病率很高的恶性肝肿瘤。亚染色体扩增和缺失是肝癌发生的主要基因组改变。数字核型分析是一种用于高分辨率分析全基因组染色体畸变的有效方法。方法构建肝癌数字核型分析文库，并将454 Genome Sequencer FLX System（Roche）用于该文库的大规模测序。使用数字核型分析数据查看器软件分析基因组扩增和缺失。通过实时定量PCR检测通过数字核型分析检测到的基因的基因组扩增。还通过实时定量RT-PCR检测这些基因在肿瘤和成对的非肿瘤组织中的mRNA表达水平。结果从肝癌的数字核型分析库中获得了总共821,252个基因组标签，其中529,162个标签（占64％）被映射到人类基因组的独特位点。通过分析数字核型分析数据检测到多个亚染色体扩增和缺失，其中7q21.3的扩增引起了我们的特别关注。验证7q21.3位点扩增子中包含的基因后发现，SGCE，PEG10，DYNC1I1和SLC25A13的基因组扩增发生在11个（21％），11个（21％），11个（21％）和23个（44％）分别有52个HCC样本。此外，与相应的非肿瘤对应物相比，肿瘤肝组织中SGCE，PEG10和DYNC1I1的mRNA表达水平显着上调。结论我们的结果表明，在肝癌中扩增了7q21.3的亚染色体区域，而SGCE，PEG10和DYNC1I1可能是位于7q21.3位点的原癌基因。

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