结肠癌PIK3CA基因G1876A突变的意义  

The significance of PIK3CA gene G1876A mutation in colon carcinoma

作　　者：陆兴热[1] 温柏平[2] 代宏剑[2] 高仕萍[1] 刘孝文[1] 

机构地区：[1]云南省文山州人民医院,云南文山县665000 [2]昆明市儿童医院昆明市儿童医学检验中心,云南昆明650034

出　　处：《检验医学》2012年第1期26-29,共4页Laboratory Medicine

摘　　要：目的寻找结肠癌中磷脂酰肌醇激酶-3(PIK3CA)基因的突变位点,结合结肠癌计算机断层扫描(CT)分期资料分析其意义。方法收集结肠癌组织78例和癌旁组织30例,通过聚合酶链反应(PCR)扩增PIK3CA第12和20外显子,单核苷酸多态性(SSCP)进行筛查,再用测序法确证,并对照经CT检查Dukes临床病理分期资料进行分析。结果结肠癌样本SSCP和DNA测序在PIK3CA第20外显子未发现突变,第12外显子有16例(20.51%)样本发生G1876A突变,突变样本均位于Dukes分期的A期和B期;而30例癌旁组织样本PIK3CA第12和20外显子均未发现突变。结论 PIK3CA基因G1876A突变可能在结肠癌发生中起着重要的作用,第12外显子基因分析对早期结肠癌患者的诊断有重要意义。Objective To detect the mutations of phosphatidylinositol 3-kinase catalytic alpha polypeptide（PIK3CA） gene in colon carcinoma,and analyze the relation and significance with computerized tomography（CT） stages.Methods The tumor tissues（78 cases） and tumor-adjacent tissues（30 cases） of colon carcinoma were collected.The exon 12 and exon 20 of PIK3CA gene was amplified by polymerase chain reaction（PCR） and examined by single-strand conformation polymorphism（SSCP） and sequenced.With the CT stages,the data of Dukes stage were analyzed.Results In tumor tissues,after the SSCP examination and sequencing,there was no mutation happened in the exon 20,and there were 16（20.51%） cases of the exon 12,which all changed with G1876A mutation in Dukes A stage and B stage.In contrast,all the tumor-adjacent tissue cases were not found mutation in exon 12 and exon 20.Conclusions The mutation G1876A of PIK3CA gene plays an important role in the genesis of colon carcinoma,and it is useful to analyze and diagnose early colon carcinoma by the detection of exon 12.

关 键 词：磷脂酰肌醇激酶-3基因 基因突变 基因分析 单核苷酸多态性 测序 

分 类 号：Q753[生物学—分子生物学]