大肠癌中MCC和APC基因突变检测及临床意义

目的研究大肠癌的发生机制。方法采用聚合酶链式反应-单链构象多态性分析技术对大肠癌患者的肿瘤、正常组织及癌旁组织抑癌基因APC突变集中区MCR和抑癌基因MCC第10、12、15外显子的变化进行检测。结果大肠癌及癌分组织APC基因MCR15G、15H、15I三段的突变率显著高于正常组织，而肿瘤和痛分组织之间差异无显著性。MCC基因10、12、15三个外显子在大肠癌及癌旁组织的突变率与正常组之间差异有显著性，而肿瘤与癌旁之间差异无显著性。APC和MCC二者在癌组织中的总突变率高于APC和MCC单基因的突变率。结论APC和MCC突变检测有可能用于大肠癌早期基因诊断。

Detection of MCC and APC gene mutations in colorectal carcinoma and the clinical implication

Objective To study the occurrence mechanism of colorectal carcinoma. Method Thechanges in mutation cluster region (MCR) of adenomatous polyposic coli (APC) gene and exons 10, 12, 15 ofmutation in colorectal carcinoma (MCC) were separately assayed with polymerase chain reaction-single strandconformation poymorphisms (PCR-SSCP) technique in 29 samples of colorectal carcinoma, proximal colonictissue and 24 corresponding samples of tissues surrounding tumor from the patients with colorectal carcinoma.Results The mutation rate of 15G, 15H and 151 fragments in MCR of APC gene were significantly higher ingroups of colorectal carcinoma and tissue surrounding the tumor than normal colonic tissues. In contrast, nosignificant difference was found between colorectal carcinoma and the tissues surrounding the tumor. Therewas a significant difference in the mutation rate in exons 10, 12, 15 of MCC gene between colorectal carcinoma, the tissues surrounding the tumor and the normal colonic tissues, but no significant difference was foundbetween the colorectal carcinoma and the tissues surrounding the tumor. The total mutation rate of APC andMCC in colorectal carcinoma was 80% and considerably higher than single mutation rate in anyone of thesetwo genes. Conclusion Detection of APC and MCC mutation might be used to early diagnose colorectal carcinoma.