文章摘要
许示心,楚建军,李莉华,谢思明,朱 斌.42例大肠癌患者血浆TPEF异常甲基化及K-ras基因突变检测结果分析[J].南京医科大学学报,2008,28(2):229~231255
42例大肠癌患者血浆TPEF异常甲基化及K-ras基因突变检测结果分析
The diagnostic analysis of 42 colorectal cancer patierts with the TPEF aberrant methylation and K-ras gene mutation in plasma
投稿时间:2007-06-01  
DOI:10.7655
中文关键词: 大肠癌  血浆游离DNA  K-ras  跨膜蛋白
英文关键词: colorectal cancer  plasma DNA  K?鄄ras  TPEF
基金项目:江苏省卫生厅重大项目(K200505)
作者单位
许示心 无锡市第四人民医院胃肠肿瘤外科,江苏 无锡 214062 
楚建军 无锡市第四人民医院胃肠肿瘤外科,江苏 无锡 214062 
李莉华 无锡市第四人民医院胃肠肿瘤外科,江苏 无锡 214062 
谢思明 苏州大学医学遗传研究室,江苏 苏州 215007 
朱 斌 苏州大学医学遗传研究室,江苏 苏州 215007 
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中文摘要:
      目的:测定大肠癌患者外周血血浆游离DNA中含表皮生长因子和卵泡抑素结构域的跨膜蛋白(TPEF)基因启动子区异常甲基化率及K-ras基因12密码子突变率,评估联合检测此二个分子标记非损伤性筛选和诊断大肠癌的可行性?方法:提取大肠癌患者外周血血浆DNA,采用突变富集PCR-RFLP法检测K-ras基因突变,甲基化特异性PCR法检测TPEF基因甲基化异常?结果:42例大肠癌患者血浆标本中,27例检测到TPEF甲基化异常,16例检测到K-ras基因12密码子突变,联合二个分子标记,大肠癌患者诊断符合率为76.2%?结论:联合检测K-ras?TPEF基因异常将可能是一种非损伤性筛选和诊断大肠癌的有效方法?
英文摘要:
      Objective:To determinate the of transmembrane protein endothelial factor(TPEF) and the 12th codon mutation of K-ras gene in plasma DNA Simultaneously,and to evaluate its feasibility in noninvasive diagnosis of colorectal cancer. Methods:DNA was isolated from plasma,the hypermethylation of TPEF was detected by methylation-specific PCR,the mutation of K-ras gene by mutation enriched PCR-RFLP method respectively. Results:Hypermethylation of TPEF was confirmed in 27 cases,and 12th mutation of K-ras gene was confirmed in 15 cases respectively in 42 colorectal cancer cases. Combined two molecular markers,the accord with the diagnostic rate of colorectal cancer was 76.2%. Conclusion:Simultaneous determination TPEF hypermethylation and K-ras gene mutation was an effective noninvasive method in screening and dignosis of colorectal cancer in the near future.
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