遗传性非息肉病性结直肠癌遗传易感基因的研究现状

摘要

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.%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.