PCR法用于MSH2基因突变的检测

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。

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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 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.