摘要目的 检测与分析肝细胞癌体细胞突变的拷贝数畸变(CNA)全基因组分布,探讨体细胞突变的易感区域及相关基因.方法 采用Illumina Hiseq 2500测序平台对1例肝细胞癌患者手术后的癌组织和癌旁组织标本进行全基因组测序,对癌组织体细胞突变的CNA进行生物信息学分析.结果 癌旁组织与癌组织标本平均测序深度、覆盖度分别为12.31、90.24%和11.37、92.48%.体细胞突变的CNA发生的3个高峰分别位于10q26.13、17p13.1和22q13.2,上述3个区域内包含编码基因外显子的CNA分别为7、3、7个.结论 体细胞突变区域异于遗传易感区域,这将为环境危险因子致体细胞突变诱发肝细胞癌的机制研究提供依据.

abstractsObjective To detect and analyze the genome-wide distribution of the copy number aberrations(CNAs)of somatic mutation in hepatocellular carcinoma,and to investigate the susceptibility loci and related genes of somatic mutation. Methods Illumina Hiseq 2500 sequencing platform was used to detect the genome-wide sequence of tumor tissues and adjacent tissues in 1 patient with hepatocellular carcinoma after the operation. Bioinformatics analysis was performed on CNAs of somatic mutation in the tumor tissues. Results The average sequencing depth and coverage of the adjacent tissues and tumor tissues were 12.31,90.24%and 11.37,92.48%,respectively. The three peaks of CNAs in somatic mutations were located at 10q26.13,17p13.1 and 22q13.2,respectively. In the above three loci,the number of CNAs containing the exons of the coding gene were 7,3 and 7,respectively. Conclusion The somatic mutation loci are different from the susceptible loci,which will provide the basis for the mechanism of hepatocellular carcinoma caused by environmental risk factors induced somatic mutation.