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散发性结直肠癌APC、K-ras、p53、MMR基因突变检测 被引量:12

Mutations in APC,K-ras,p53 and MMR gene in colorectal cancer
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摘要 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。 Objective To investigate the mutation pattern of adenomatous polyposis eoli (APC), Kirsten ras [K-ras), p53 and MMR {mismatch repair) in sporadiecolorectaleancertissues. Methods DNA was extracted by phenol-chloroform method from tumor and normal 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 There was not mutation in hMLHl,the mutations of APC,K-ras, p53 and hMSH2 was 37.5% [18/48),43.8% [21/48),35.4%[17/48)and4.2%[2/48),respectively. Forty-four of 48 patients[91.7% }contained mutations in at least one of these genes including one gene mutation,two or three gene mutations. The rate of only one gene mutation of APC,K-ras,p53 and hMSH2 was 16.7%(8/48),25.0%{12/48), 20.8% (10/48) ,and 4. 2%(2/48} ,respectively. Only2 cases(4.2% )contained mutations in APC,K-ras,and p53. Conclusion There might be an alternative mechanism during the carcinogenesis of sporadic coloreetal cancers,in addition to the widely accepted genetic model that the sequential accumulation of mutations in specific genes.
出处 《结直肠肛门外科》 2009年第4期229-232,共4页 Journal of Colorectal & Anal Surgery
关键词 结直肠肿瘤 DNA突变 APC P53 K-RAS MMR Colorectal neoplasms DNA mutation APC K-ras p53 MMR
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