| 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应用 |
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| 引用本文： | 金黑鹰,崔龙,孟荣贵,阎于悌,王金穗. 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应用[J]. 结直肠肛门外科, 2001, 7(2): 4-6 |
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| 作者姓名： | 金黑鹰 崔龙 孟荣贵 阎于悌 王金穗 |
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| 作者单位： | 1. 上海第二军医大学附属长海医院肛肠外科,200433
2. 甘肃省人民医院肛肠科,730000 |
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| 基金项目： | 受国家自然科学基金资助 (批准号为 3990 0 178) |
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| 摘 要： | 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hMLH1 14例显子，行EB染色的SSCP检测。结果：8例患者14例显子两条单链清晰可见，对1例进行了自动测序，符合Gene Bank分布的hMLH1 14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。
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| 关 键 词： | PCR－SSCP 遗传性非息肉病性大肠瘤 错配修复 基因突变 |
| 修稿时间： | 2001-04-26 |
APPLICATION OF PCR-SSCP TO IDENTIFY GERMLINE MUTATION OF MISMATCH REPAIR GENE IN HNPCC FAMILIES. |
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| Jin Heiying,Cui Long,Meng Ronggui,et al The Colorectal. APPLICATION OF PCR-SSCP TO IDENTIFY GERMLINE MUTATION OF MISMATCH REPAIR GENE IN HNPCC FAMILIES.[J]. Journal of Colorectal & Anal Surgery, 2001, 7(2): 4-6 |
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| Authors: | Jin Heiying Cui Long Meng Ronggui et al The Colorectal |
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| Affiliation: | Jin Heiying,Cui Long,Meng Ronggui,et al The Colorectal Department of Chang Hai Hospital,Shanghai 200433,The Colorectal Department of People's Hospital of Gansu Province,Lanzhou 730000 |
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| Abstract: | Objective:To study the use of PCR SSCP to indentify germline mutation of MMR gene in HNPCC families Method:Genome DNA of 8 patients with HNPCC was subtracted,Exon 14 of hMLH1 was amplfied with PCR The result was analyzed with SSCP stained by EB Results:The single strains of the exon 14 of hMLH1 in 8 HNPCCs were found Conclusion:PCR SSCP stained by EB is sensitive,simple and economical and can be used in screening the germiline mutation of MMR in HNPCC families |
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| Keywords: | PCR SSCP HNPCC Mismatch repair mutation |
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