CAJ | 학술논문

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.
목적 탐토k-ms기인재결직장암환자중적돌변상황,위k-ras기인돌변검측제공이론의거.방법 제취기인조DNA,채용PCR확증화쌍향직접측서법,검측56례결직장암k-ras기인적돌변상황.결과 56례결직장암중k-ras기인적돌변솔위46.63%(26/56),기중20례(20/26,76.92%)위밀마자12적돌변,6례(6/26,23.08%)위밀마자13적돌변,미발현동시존재량개위점돌변적양본.돌변류형이G>A위주,밀마자12적돌변이GGT>GAT(G12D)위주.밀마자13적돌변이GGC>GAC위주.통계학분석발현,k-ras기인돌변여환자적성별밀절상관이여기타림상병리특정여:종류발생부위、유무림파결전이등무관.결론 재결직장암환자중,k-ras기인돌변주요발생우밀마자12;돌변류형이G>A위주;k-ras기인적돌변가능여환자적성별상관.
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.