k-ras基因突变与结直肠癌的关系  

Relationship of k-ras mutation and colorectal cancer

作　　者：陈慧娟[1] 李洪波[1] 李硕敏[1] 鲁碧稳[1] 程俊峰[1] 刘元力[1] 

机构地区：[1]广州金域医学检验中心分子病理实验室,510330

出　　处：《肿瘤研究与临床》2010年第7期461-463,共3页Cancer Research and Clinic

摘　　要：目的 探讨k-ms基因在结直肠癌患者中的突变状况,为k-ras基因突变检测提供理论依据.方法 提取基因组DNA,采用PCR扩增和双向直接测序法,检测56例结直肠癌k-ras基因的突变状况.结果 56例结直肠癌中k-ras基因的突变率为46.63%（26/56）,其中20例（20/26,76.92%）为密码子12的突变,6例（6/26,23.08%）为密码子13的突变,未发现同时存在两个位点突变的样本.突变类型以G〉A为主,密码子12的突变以GGT〉GAT（G12D）为主.密码子13的突变以GGC〉GAC为主.统计学分析发现,k-ras基因突变与患者的性别密切相关而与其他临床病理特征如：肿瘤发生部位、有无淋巴结转移等无关.结论 在结直肠癌患者中,k-ras基因突变主要发生于密码子12 突变类型以G〉A为主 k-ras基因的突变可能与患者的性别相关.Objective To explore the status of mutations of k-ras gene in colorectal cancer （CRC） patients and to make theory preparation for the k-ras mutation detection in diagnosis laboratory. Methods The Genomic DNA was extracted, mutation analysis of k-ras was detected by PCR and bi-direction sequencing in the 56 specimens. Results Rate of k-ras mutation was 46.63 % （26/56） including 76.92 % （20/26） located at codon 12, and 23.08 %（6/26） located at codon 13, and no mutation was found at both codons simultaneously. G〉A transition is the most common type of k-ras mutation,GGT〉GAT （G12D） is the predominant mutation at codon 12 and GGOGAC （G13D） at codonl3. Chi-square analysis revealed the k-ras mutation was significantly correlated to the gender of the patients. Conclusion The k-ras mutation is mainly located at the codon 12, G〉A transition is the most type of k-ras mutation in CRC. k-ras mutation seems to correlate with the gender of CRC patients.

关 键 词：结直肠肿瘤 K-RAS 突变分析 

分 类 号：R735.3[医药卫生—肿瘤]