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FAT10基因在肝细胞癌中的表达和突变分析

袁荣发,余新,刘天德,蒋成行,邵江华   

  1. 南昌大学第二附属医院肝胆外科
  • 收稿日期:2011-11-28 修回日期:2012-05-25 出版日期:2012-09-15 发布日期:2012-09-15
  • 通讯作者: 邵江华

Expression and Mutation analysis of FAT10 gene in Human Hepatocellular Carcinoma

  • Received:2011-11-28 Revised:2012-05-25 Published:2012-09-15 Online:2012-09-15

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摘要： 目的：探讨FAT10基因在肝细胞癌中的表达和突变情况。方法：应用Western blot 检测60例肝癌患者癌和癌旁组织FAT10蛋白表达水平。采用DNA直接测序方法检测60例肝癌患者（癌和癌旁组织）和5种人肝癌细胞中FAT10基因编码区遗传变异情况。结果：在60例肝癌中，85%（51/60）的肝癌组织FAT10蛋白的表达明显高于癌旁组织。在60例肝癌患者和5种人肝癌细胞中检测到FAT10基因编码区存在7个单核苷酸多态性位点，未发现基因突变。结论：FAT10基因在中国人肝癌中存在表达上调，但未发现基因突变现象，提示FAT10在肝癌中的异常表达并不依赖于该基因突变，可能存在其他机制，有待于进一步研究。

关键词: 肝肿瘤, 癌, 肝细胞, 单核苷酸多态性, 突变, FAT10基因

Abstract: 0bjective: To discuss the expression and mutation of FAT10 gene in hepatocellular carcinoma．Methods: The FAT10 expression levels were examined by Western blot in 60 specimens of human HCC and its corresponding adjacent non-cancerous tissues．DNA sequencing was used to detect FAT10 gene coding region mutation in 60 HCC patients including cancer and adjacent non-cancerous tissues and 5 cell lines of human HCC．Results：We examined FAT10 expression levels in 40 pairs of human HCC and their corresponding nontumorous pancreas. FAT10 was found to be overexpressed in 85% of the HCC cases (p<0.05). Seven SNPs in FAT10 gene coding region were identified, No mutation was found in all HCC patients. Conclusion: FAT10 gene was highly expressed in Chinese HCC patients．No mutations of FAT10 gene were detected in HCC sample tissues and HCC cell lines．It indicated that FAT10 gene was involved in the process of hepatocarcinogenesis and this process was independent on gene mutation, maybe by other mechanisms．It needs further study

Key words: neoplasms, Carcinoma, hepatocellular, Single Nucleotide Polymorphism, mutation, FAT10 gene