Jin Li-Hua, Shao Qiu-Jie, Luo Wen, Ye Zhi-Yun, Li Qing, Lin Sheng-Cai
Regulatory Biology Laboratory, Department of Biology, Xiamen University, Fujian, China.
Int J Cancer. 2003 Dec 10;107(5):696-9. doi: 10.1002/ijc.11435.
Axin is a recently identified tumor suppressor that plays an important role in liver and colon cancers. To gain further insights into the structure and function of Axin in controlling cell growth, we analyzed 54 colorectal cancer tissues for mutations in AXIN1 gene. We employed PCR amplification with 23 sets of primers against introns that encompassed the whole coding region of AXIN1 followed by single-strand conformation polymorphism (SSCP) analysis. After subcloning and sequencing analysis of the reamplified DNA from the aberrant bands, we found, in addition to 3 silent mutations, 6 missense point mutations in different functionally important regions. The missense mutation rate is hence 11%, suggesting that Axin deficiency may contribute to the onset of colorectal tumorigenesis.
Axin是最近发现的一种肿瘤抑制因子，在肝癌和结肠癌中发挥重要作用。为了进一步深入了解Axin在控制细胞生长中的结构和功能，我们分析了54例结直肠癌组织中AXIN1基因的突变情况。我们使用23组针对内含子的引物进行PCR扩增，这些内含子涵盖了AXIN1的整个编码区，随后进行单链构象多态性（SSCP）分析。对异常条带的重新扩增DNA进行亚克隆和测序分析后，我们发现除了3个沉默突变外，在不同功能重要区域还有6个错义点突变。因此，错义突变率为11%，这表明Axin缺乏可能促成结直肠癌的发生。
