非小细胞肺癌中EPHB6基因突变的筛选和功能预测  

Screening and functional prediction of EPHB6 mutations in non-small cell lung cancer

作　　者：于军[1,2] 铁茹[2] 赵鸽[3] 张学策[1] 陈宝莹[4] 

机构地区：[1]西安医学院第二附属医院中心实验室,西安710038 [2]第四军医大学基础医学教学实验中心 [3]西安交通大学医学院第一附属医院麻醉科 [4]第四军医大学唐都医院放射科

出　　处：《山西医科大学学报》2014年第7期557-560,667,共5页Journal of Shanxi Medical University

基　　金：国家自然科学基金资助项目(30801385);卫生部肿瘤个体化治疗分子诊断专项基金资助项目(W2013FZ20);陕西省社发攻关基金资助项目(2014K11-01-01-07)

摘　　要：目的筛查非小细胞肺癌(non-small cell lung cancer,NSCLC)中EPHB6的体突变位点,并对突变的功能进行预测。方法提取80例NSCLC患者肿瘤标本和3种NSCLC细胞系的基因组DNA,对EPHB6基因的整个编码区测序,所得结果与Genebank数据库比对,筛查得到EPHB6的突变位点。采用SIFT与Polyphen-2软件对目前所有已知的EPHB6体突变位点进行生物信息学预测。结果在80例NSCLC患者标本中发现3种新的EPHB6体突变位点(3例),即R52C、Q498H和915-917del各1例,突变发生率为3.8%。生物信息学预测结果为包括R52C在内的多种EPHB6突变可能损害EPHB6的功能。结论 NSCLC中频发EPHB6突变,这可能与肿瘤的发生与发展密切相关,但需要进一步的功能性研究来证实。Objective To screen the mutation sites of EPHB6 in non-small cell lung cancer（NSCLC）,and to predict the function of EPHB6.Methods After extraction of genome DNA from 80 cases of non-small cell lung cancer and three tumor cell lines,the entire coding region of EPHB6 was sequenced and then the results were compared with the database of genebank.In additon,the functional consequences of EPHB6 mutations were evaluated by both SIFT and Polyphen-2 software.Results Three unreported mutations of EPHB6 were identified in 80 cases of NSCLC （the mutation rate of 3.8 ％）,including R52C（n =1）,Q498H （n =1）and 915-917del （n =1）.Prediction by SIFT and Polyphen-2 revealed that EPHB6 mutations including R52C probably damaged the function of EPHB6.Conclusion EPHB6 mutations frequently occur in NSCLC.These mutations might be closely related to the genesis and development of cancer.

关 键 词：EPHB6 非小细胞肺癌 受体型酪氨酸蛋白激酶 突变 

分 类 号：R734.2[医药卫生—肿瘤]