结直肠息肉__(期刊论文)

结直肠腺瘤性息肉APC基因突变的DNA测序分析

http://www.100md.com 《结直肠肛门外科杂志》 2006年第2期

结直肠息肉,,结直肠息肉；APC基因；点突变；DNA测序,1材料与方法,2结果,3讨论,参考文献

     摘要目的：探索广西地区结直肠腺瘤性息肉组织中腺瘤性息肉病(Adenomatous?polyposis coli，APC)基因的突变类型。方法：应用聚合酶链反应(Polymerase chain reaction, PCR)方法扩增APC基因的相应片段，以制备DNA测序的模板，然后用DNA自动测序仪进行测序。结果：共检出5种APC基因突变类型，即，密码子1322(GGA>TAA)、密码子1379(GAG>TAG)、密码子1396(TT)、密码子1414(G)和密码子1429(CAA>TAA)。结论：这5种突变中有3种为无义突变，其余2种为移码突变，从而使终止密码提前出现，APC蛋白的生物合成提前终止，由此产生无功能的截短APC蛋白。

    关键词结直肠息肉；APC基因；点突变；DNA测序

    Analyses of APC Gene Mutations in Colorectal Adenomatous Polyps by DNA Sequencing

    Li Wei, Gao Feng, Liang Junlin,et al. Department of Coloproctological Surgery, the First Affiliated Hospital, Guangxi Medical University, Nanning 530021

    Abstract Objective:To identify APC gene mutations in colorectal adenomatous polyps in Guangxi. Methods:DNA sequencing template was prepared by using PCR. DNA sequencing was performed on an automatic sequencer (ABI PRISM 37796) with the kit of Big Dye terminator v2.0.Results:5 types of APC gene mutations were identified, namely, codon1322(GGA>TAA)、codon1379(GAA>TAA)、codon1396(TT)、codon1414(G)and codon1429(CAA>TAA). Conclusion:These 5 mutations include 3 nonsense mutations and 2 frameshift mutations. All of them would result in the premature stop of APC protein synthesis and generate truncated APC protein. ......

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