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目的 :探讨 PCR- SSCP在遗传性非息肉病性大肠癌错配修复基因种系突变检测中的应用。方法 :抽提 8例 HNPCC患者外周血基因组 DNA,PCR法扩增 h ML H114外显子 ,行 EB染色的 SSCP检测。结果 :8例患者 14外显子两条单链清晰可见 ,对 1例进行了自动测序 ,符合 Gene Bank公布的 h ML H114外显子序列。结论 :EB染色 PCR- SSCP是一种敏感度较高、简单经济的方法 ,适宜于在临床检测中应用
Objective: To investigate the application of PCR-SSCP in detection of germline mutations in mismatch repair gene of non-polyposis colorectal cancer. METHODS: Genomic DNA was extracted from peripheral blood of 8 patients with HNPCC. The exons of h ML H114 were amplified by PCR and detected by SSCP. RESULTS: Two single-stranded exons of exon 14 were clearly visible in 8 patients and one case was automatically sequenced, which was in accordance with the exon sequence of h ML H114 published by Gene Bank. Conclusion : EB staining PCR-SSCP is a sensitive, simple and economic method suitable for clinical detection.