遗传性非息肉病性结直肠癌遗传易感基因的研究现状

Hereditary nonpolyposis colorectal cancer genetic susceptibility genes research status

遗传性非息肉病性结直肠癌(hereditary nonpolyposis colerectal cancer,HNPCC)与遗传易感基因的突变有密切的关系,目前已经发现的HNPCC遗传易感基因主要是错配修复系统相关基因如MLH1、MSH2、MSH6和PMS2等。此外,miRNA及转化生长因子受体等与HNPCC也有密切关系。单链构象多态性分析(single-strand conformation polymorphism,SSCP)是目前应用较为广泛且相对简单的方法,但其手工操作繁杂、重复率较低,且结果往往因人而异、灵敏度不高。变性高效液相色谱分析(denaturing high-performance liquid chromatography,DHPLC)和高分辨率熔解曲线(high-resolution melting,HRM)技术是近几年发展起来的新的序列分析技术,有望成为HNPCC较理想的分子筛查方法。

Hereditary nonpolyosis colorectal cancer（HNCC） has a close relationship with genetic susceptibility gene mutations. Up to now, the HNPCC genetic susceptible genes are mainly the mismatch repair system related genes such as MLH1, MSH2, MSH6 and PMS2, etc. In addition, a close relationship among miRNA, transforming growth factor receptor and HNPCC has been observed. Single-strand conformation polymorphism （SSCP） is a relative simple method and applied extensively; However, as its multifarious manual operation and the low repeat rate, the results are often vary from person to person and the sensitivity is not high. Denaturing high-performance liquid chromatography （DHPLC） and high resolution melting （HRM） technology are the new sequence analysis technology developed in recent years, which may become the more ideal molecular screening method.