散发性结直肠癌APC、K-ras、p53、MMR基因突变检测

目的探讨结直肠癌中APC、K-ras、p53、MMR基因突变模式。方法应用酚/氯仿法提取48例结直肠癌组织及其相应正常黏膜组织的DNA,用聚合酶链反应（PCR）、单链构象多态性分析（SSCP）和DNA测序等方法检测APC基因第l5外显子突变密集区（mutation cluster region,MCR）区段、K-ras、p53和MMR基因的突变。结果hMLH1未发生突变,APC、K-ras、p53基因和hMSH2的突变率分别为37.5%（18/48）、43.8%（21/48）、35.4%（17/48）和4.2%（2/48）。APC、K-ras、p53或hMSH2基因突变率高达91.7%（44/48）。APC、K-ras,p53基因均发生突变的发生率为4.2%（2/48）。结论结直肠癌的发生、发展并不完全遵循由正常结直肠黏膜上皮细胞向腺瘤和侵袭性癌转化的过程,可能存在其他结直肠癌发病机制。

Mutations in APC,K-ras,p53 and MMR gene in colorectal cancer

Objective To investigate the mutation pattern of adenomatous polyposis eoli(APC),Kirsten ras(K-ras),p53 and MMR(mismatch repair) in sporadiccolorecta1cancertissues.Methods DNA was extracted by phenol-chloroform method from tumor and norma1 mucosal tissues of 48 patients with colorectal cancer.The mutations in the mutation cluster region(MCR) of the APC,K-ras,p53 and MMR were analyzed using polymerzse chain reaction(PCR),singlestrand conformation polymorphism(SSCP) analysis,and DNA sequencing methods.Results...