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目的:探寻结直肠癌缺陷基因(DCC基因)201密码子在大肠癌中的突变规律。方法:采用等位基因特异性PCRAS-PCR结合SalⅠ酶切方法检测35例大肠癌组织及配对的癌旁粘膜DCC基因201密码子突变情况。结果:DCC基因201密码子纯合突变率大肠癌(40％)显著高于癌旁粘膜(2.8％),(P<0.05)。且与肿瘤侵袭深度、Dukes分期相关。至少有17例(49％)大肠癌与相应癌旁粘膜相比增获一个密码子突变。结论:201密码子是DCC基因热点突变部位,属大肠癌发生中的早期基因事件,201密码子突变与大肠癌侵袭、转移能力加强密切相关,可以作为大肠癌预后评估指标。
Objective: To explore the mutation rule of codon 201 in colorectal cancer of colorectal cancer defect gene (DCC gene). Methods: Allele-specific PCRAS-PCR and SalⅠ digestion were used to detect the mutation of 201 codon in DCC gene of 35 cases of colorectal carcinoma and paired para-cancerous mucosa. Results: The 201 codon homozygous mutation rate of DCC gene was significantly higher in colorectal cancer (40%) than that in adjacent mucosa (2.8%) (P <0.05). And with the depth of invasion, Dukes staging. At least 17 (49%) of colorectal cancers receive a codon mutation compared to the corresponding paracancerous mucosa. CONCLUSION: 201 codon is a hot spot mutation in DCC gene. It is an early genetic event in colorectal carcinogenesis. 201 codon mutation is closely related to the invasion and metastasis of colorectal cancer, which can be used as a prognostic indicator of colorectal cancer.