【摘要】 目的:介绍简便、快速、准确的针对一种MSH2新突变基因的诊断方法。方法:根据该MSH2基因突变的位点和特征,设计突变位点特异性引物,进行PCR扩增,电泳检测PCR产物,从而鉴定出该基因突变的携带者或非携带者。结果:用该方法成功检测出遗传性非息肉型直结肠癌家系中的表型正常的MSH2基因新突变携带者。结论:该方法简便、快速、准确又节省成本,可应用于MSH2基因突变的检测。更多还原

【Abstract】 Objective To establish a genetic diagnosis method for a novel MSH2 mutation.Methods A specific primer on the mutated site of MSH2 was synthesized and PCR was conducted(using the) specific primer and another downstream primer.PCR products were electrophoresed and then the carriers or non-carriers were identified.Results The carriers with the novel gene mutation of MSH2 in a hereditary nonpolyposis colorectal cancer family were successfully found.Conclusion The method is effective and simple for genetic diagnosis of the novel mutation in MSH2.更多还原