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单链构象多态性分析和变性高效液相色谱分析技术检测hMLH1和hMSH2基因突变的比较 被引量:6

Comparison of the sensibility and specificity between single-stranded conformation polymorphism and denaturing high-performance liquid chromatography in screening hMSH2 and hMLH1 gene mutations in hereditary non-polyposis colorectal cancer
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摘要 目的比较单链构象多态性分析(SSCP)和变性高效液相色谱分析技术(DHPLC)应用于遗传性非息肉病性结直肠癌(HNPCC)分子遗传学诊断的灵敏性和特异性。方法应用PCR-SSCP和DHPLC方法分析经测序验证有序列变异的7个家系的所有成员的相应PCR扩增产物,分别计算SSCP和DHPLC的灵敏度和特异度。结果应用SSCP对hMLH1和hMSH2进行基因突变筛查的敏感性和特异性分别为51.6%和66.6%;而应用DHPLC进行基因突变筛查的敏感性和特异性则分别为100%和93.3%;两种方法进行基因突变筛查的结果差异有统计学意义(P〈0.05)。结论DHPLC进行基因突变筛查的敏感性和特异性均高于SSCP,是理想的分子遗传学检测方法。 Objective To compare the sensibility and specificity between single-stranded conformation polymorphism (SSCP) and denaturing high-performance liquid chromatography (DHPLC) in screening hMSH2 and hMLH1 gene mutations for the diagnosis of hereditary non-polyposis coloreetal cancer (HNPCC). Methods Seven Chinese HNPCC kindreds were collected. PCR-SSCP and DHPLC were used to screen the coding regions of hMSH2 and hMLH1 genes and the abnormal profiles were sequenced by a 377 DNA sequencer. Results Seven gene sequence variations of hMSH2 or hMLH1 were found. Among them, 4 variations were not found by SSCP, but by DHPLC. The sensibility of SSCP and DHPLC were 51.6% and 100% respectively, and the specificity were 66.6% and 93.3% respectively. Conclusion DHPLC has better sensibility and specificity in screening hMSH2 and hMLH1 gene mutation as compared to SSCP. DHPLC is an ideal method in the diagnosis of HNPCC.
出处 《中华胃肠外科杂志》 CAS 2008年第5期462-464,共3页 Chinese Journal of Gastrointestinal Surgery
基金 国家自然科学基金(39970817)
关键词 变性高效液相色谱分析 多态现象 单链构象 MLH1 MSH2 突变分析 结直肠肿瘤 遗传性非息肉性 Denaturing high-performance liquid chromatography Polymorphism, single- stranded conformational Human homologous to the E.coli MutL gene Human homologous to the E.coli MutS gene Gene mutation screening Hereditary non-polyposis colorectal cancer
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参考文献10

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二级参考文献3

  • 1Ying Yuan M.D.,Hye-Jung Han M.S.,Shu Zheng M.D.,Dr. Jae-Gahb Park M.D.. Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer[J] 1998,Diseases of the Colon & Rectum(4):434~440
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