论文部分内容阅读
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 ,适合于在临床广泛应用
Objective To investigate the variation characteristics of microsatellite markers BAT 2 5 and BAT 2 6 in hereditary nonpolyposis colorectal cancer (HNPCC) and their value in screening HNPCC pedigrees. Methods 12 cases of typical and atypical HNPCC patients were subjected to polymerase chain reaction (PCR) and single strand polymorphism analysis (PCR SSCP) of BAT2 5 and BAT 2 6, and compared with 16 cases of sporadic colorectal cancer. Results Among 12 patients with typical HNPCC, 11 were BAT 2 6 positive and 7 were BAT 2 5 positive. In 12 patients with atypical HNPCC, BAT 2 6 was positive in 7 patients and BAT 2 5 was positive in 4 patients. In 16 patients with sporadic colorectal cancer BAT 2 6 positive in 1 case, BAT 2 5 positive in 3 cases, the difference between the 3 groups was significant (P <0. 05); BAT 2 6 screening HNPCC pedigree sensitivity was 0.92, specificity of 0. 94; BAT 2 5 has a sensitivity of 0.58 and a specificity of 0.81. Conclusion The mutation rates of BAT 2 6 and BAT 2 5 in patients with HN PCC are significantly higher than those in sporadic colorectal cancer. The screening of colorectal cancer with BAT 2 6 and BAT 2 5 has higher sensitivity and specificity and lower cost, Clinical widely used