一个新的与12位密码子共存的K-ras基因突变位点  

A Novel Point Mutation of K-ras Gene Coexisted with Codon 12 Mutation

作　　者：陈向征[1] 罗婷[1] 刘明[1] 郎楠[1] 朱亚杰[1,2] 唐秋琳[1] 李立兰[1] 毕锋[1,2] 

机构地区：[1]四川大学生物治疗国家重点实验室信号转导与分子靶向治疗研究室 [2]四川大学华西医院腹部肿瘤科,四川成都610041

出　　处：《华西医学》2009年第10期2661-2663,共3页West China Medical Journal

基　　金：国家自然科学基金(No.30672378)

摘　　要：目的:检测大肠癌组织中K-ras基因的突变情况以指导临床治疗。方法:通过提取15例大肠癌石蜡组织中的DNA并进行PCR扩增,之后采用国际金标准方法-直接测序法进行检测获得突变信息。结果:15例大肠癌石蜡组织样本中K-ras有4例发生突变,突变率为26.6%。值得注意的是发现一个新的突变位点-密码子42,并且与密码子12突变共存。结论:密码子42的突变进一步证明K-ras突变不仅局限于密码子12,13,61,还有与密码子12共存的42位突变。Objective：To detect the mutation status of K-ras gene in colorectal cancers and to assist the clinical treatments.Methods：DNA was extracted from fifteen formalin-fixed,paraffin-embedded tumor samples of colorectal cancers,and then the fragments containing codons 12,13 and codon 61 were amplified by PCR.The sequences were indentified by direct sequencing which is gold standard for the detection of mutation.Results：In the 15 samples of colorectal cancer patients,4 mutations were observed,with 2 in codon 12 and 2 in codon 13.Suprisingly,a novel point mutation at codon 42 of K-ras was found,and coexisted with mutation in codon 12.Conclusion：Except for codons 12,13,61 mutation,K-ras has other mutation at codon 42 with coexisted with codon 12 point mutation.

关 键 词：K-RAS基因 大肠癌 点突变 密码子42 

分 类 号：R735.34[医药卫生—肿瘤]