突变敏感性分子开关技术在检测乳腺癌磷脂酰肌醇-3-激酶催化亚单位α基因突变中的应用  

Application of mutation-sensitive molecular switch in the rapid screening of breast cancer phos- phatidylinositol 3-kinase catalytic alpha gene mutations

作　　者：陈营[1] 朱旬[1] 肖莉[2] 李凯[3] 邢春根[1] 邹汉青[1] 

机构地区：[1]苏州大学附属第二医院普外科,215004 [2]苏州大学附属第二医院实验中心,215004 [3]苏州大学药学院

出　　处：《中华实验外科杂志》2012年第5期837-840,共4页Chinese Journal of Experimental Surgery

基　　金：国家高技术研究发展863计划资助项目（2008AA022436）;江苏省卫生厅科研资助项目（H200817）;苏州市社会发展科技计划资助项目（SS08014）

摘　　要：目的利用突变敏感性分子开关技术检测乳腺癌磷脂酰肌醇-3-激酶催化亚单位仅（PIK3CA）基因A3140G突变频率，以便建立快速检测基因突变的技术方法。方法用高保真DNA聚合酶介导的突变敏感性分子开关技术对62例乳腺癌组织和10例乳腺纤维腺瘤组织DNA进行检测，并利用凝胶成像系统对结果进行分析。结果在62例乳腺癌患者中检测出10例PIK3CA基因A3140G突变（突变率为16．1％），10例乳腺纤维腺瘤中未发现该突变。PIK3CA基因A3140G突变与年龄、肿瘤大小、淋巴结状态、雌激素受体（ER）／孕激素受体（PR）状态、表皮生长因子受体-2（cerbB-2）和表皮生长因子受体（EGFR）表达等无相关。结论突变敏感性分子开关技术可快速准确地检测乳腺癌PIK3CA基因A3140G突变。Objective To establish a technology platform which can screen the breast cancer phosphatidylinositol 3-kinase catalytic alpha （PIK3CA） gene A3140G mutation rapidly by using the mutation-sensitive molecular switch. Methods The A3140G mutation of PIK3CA gene was detected by the fidelity DNA polymerase-mediated mutation-sensitive molecular switch in 62 samples of breast cancer and 10 samples of breast fibroadenoma. Results Ten （ 16. 1% ） A3140G mutations were found in these 62 cases of breast cancer and no mutation was found in 10 cases of breast fibroadenoma. The A3140G mutation of PIK3CA gene had no significant correlation with the age, tumor size, lymph node status, estrogen receptor （ ER）/progesterone receptor （PR） status, epidermal growth factor receptor 2 （ cerbB-2 ） and epidermal growth factor receptor （EGFR） expression. Conclusion The mutation-sensitive molecular switch can screen the breast cancer PIK3CA gene A3140G mutation rapidly and accurately. The technology of molecu- lar switch has great clinically applied value in screening breast cancer gene mutation.

关 键 词：乳腺肿瘤 分子开关 基因突变 

分 类 号：R737.9[医药卫生—肿瘤]