To investigate the common mutation patterns of hereditary nonpolyposis colorectal cancer(HNPCC) genes.Methods Using PCR-agarose electrophoresis and PCR-SSCP to screen the hMSH2, hMLH1 genes mutation of 9 HNPCC patients and 4 family members. Results Abnormal shifting of PCR productions was identified in 7 patients and 2 HNPCC family members out of 9 different families. Conclusion PCR-agarose and PCR-SSCP are simple, rapid , sensitive, economic and specific methods that can be used to detect HNPCC gene hMSH2, hMLH1 mutations.%目的：探索遗传性非息肉病性结直肠癌(HNPCC)基因突变规律。方法：用聚合酶链式反应和PCR-SSCP对9例HNPCC患者及其家系成员以及4例正常对照的hMSH2、hMLH1基因进行检测。结果：9例来自不同家族的患者中，7例出现电泳条带异常；4例来自上述家系的无症状成员，其中2例出现电泳条带异常。结论：聚合酶链式反应和PCR-SSCP联合应用，可用于hMSH2、hMLH1基因突变的检测。
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