微卫星标志BAT-26、BAT-25在遗传性非息肉病性结直肠癌中的变异特征及临床意义

The features and clinical roles of the mutation of BAT-26 and BAT 25 in patients with HNPCC

目的 探讨微卫星标志BAT 2 5、BAT 2 6在遗传性非息肉病性结直肠癌 (HNPCC)患者中变异特征及其在HNPCC家系筛选中的价值。方法 对典型和非典型HNPCC患者各 12例进行BAT 2 5、BAT 2 6聚合酶链反应 (PCR)结合单链多态性分析 (PCR SSCP) ,并与 16例散发性大肠癌进行对照。结果 12例典型HNPCC患者中BAT 2 6阳性 11例、BAT 2 5阳性 7例 ;12例非典型HNPCC患者中BAT 2 6阳性 7例、BAT 2 5阳性 4例 ;16例散发性结直肠癌中BAT 2 6阳性 1例、BAT 2 5阳性 3例 ,3组之间差异有显著性 (P <0 .0 5 ) ;BAT 2 6筛选HNPCC家系的敏感性为 0 .92、特异性为 0 .94;BAT 2 5检测的敏感性为 0 .5 8、特异性为 0 .81。结论 BAT 2 6和BAT 2 5在HN PCC患者变异率明显高于散发性结直肠癌 ,利用BAT 2 6和BAT 2 5对大肠癌筛选 ,敏感性和特异性较高 ,成本低 。

Objective To study the features and clinical roles of the mutation of the BAT 26 and BAT 25 in patients with HNPCC.Methods The mutation of BAT 25 and BAT 26 were analyzed with PCR SSCP in 12 cases of typical HNPCC,12 cases of nontypical HNPCC and 16 cases of sporadic colorectal cancers.Results Among 12 cases of typical HNPCC,11 cases had the mutation of BAT 26 and 7 cases had the mutation of BAT 25.In 12 cases of nontypical HNPCC,7 BAT 26 mutations and 4 BAT 25 mutations were found.While among the 16 cases of sporadic colorectal cancer,only one cases had the BAT 26 and 3 cases had the BAT 25 mutation.The difference among three groups was significant.Conclusion The rate of mutation of the BAT 26 and BAT 25 in HNPCC is significantly higher than that in sporadic colorectal cancers.The specificity and sensitivity are very satified and valuable.It is so easy and economical that it can be used in clinical practice.