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

摘要:目的： 檢測大腸癌組織中Kras基因的突變情況以指導臨床治療。 方法 ：通過提取15例大腸癌石蠟組織中的DNA并進行PCR擴增,之后采用國際金標準方法直接測序法進行檢測獲得突變信息。 結果 ：15例大腸癌石蠟組織樣本中Kras有4例發生突變,突變率為266%。值得注意的是發現一個新的突變位點密碼子42,并且與密碼子12突變共存。 結論 ：密碼子42的突變進一步證明Kras突變不僅局限于密碼子12,13,61,還有與密碼子12共存的42位突變。Abstract: 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