非小细胞肺癌组织SOX4基因突变分析  

Analysis of SOX4 gene mutation in non-small cell lung cancer tissues

作　　者：陈启龙[1,2] 郑文岭[1,3] 姚文娟[1] 聂刘旺[4] 程双怀[4] 马文丽[1,3] 

机构地区：[1]上海大学电子生物中心,200072 [2]安徽簧山学院生命与环境科学学院 [3]南方医科大学基因工程研究所 [4]安徽师范大学生命科学学院

出　　处：《中华医学遗传学杂志》2007年第5期505-509,共5页Chinese Journal of Medical Genetics

基　　金：安徽省教育厅自然科学基金（2003kjl70）,安徽省高校青年教师基金（20D6jql235）

摘　　要：目的研究不同病理类型和病理分期的非小细胞肺癌组织中SOX4基因序列突变情况，探讨SOX4基因在肺癌发生过程中的作用。方法PCR扩增肺癌及癌旁组织SOX4基因HMG-box，并对经单链构象多态性分析有差异的20例病例进行测序。DNA及氨基酸序列比较利用Clustal和DNAStar软件。结果90例肺癌组织标本中，有18例发生碱基突变。其中，鳞癌有7例，腺癌5例，腺鳞癌混合型6例，对照的癌旁组织中未检测出突变。临床Ⅱ、Ⅲ期的突变率明显高于I期。结论SOX4基因突变与肺癌肿瘤的病理类型无关，但与其病理分期有很大关系，提示SOX4基因突变可能与肺癌的发展和转移有某种关系，为探索SOX基因突变与人类肿瘤发生之间的关系提供了分子依据。Objective To investigate the mutation of SOX4 gene in the ditterem tumor tissue with pathological stages and types of non-small cell lung cancer （NSCLC）, and to explore its roles in the progression of lung carcinoma. Methods The SOX4 gene HMG-hox of lung cancer tissues and paracancemus tissues were amplified by PCR, 20 cases shown difference by single strand conformation polymorphyism analysis were sequenced. The DNA sequences were compared with nomaal sequences by software Clustal and DNAStar. Results In the 90 NSCLCs, 18 cases were found with mutations of SOX4 gene and were sequenced, and there were 2 mutational points. Seven were detected from squamous cell carcinoma, five from adenocarcinoma and six from adeno-squamous. Ihree were obtained from tissues in stage I , five in stage 11 , six in stage Ⅲ, and four in stage IV. The mutation rate in stage H , Ⅲ and IV was significantly higher than that in stage I Conclusion SOX4 gene mutation is not associated with pathology histological types of tumor, but it is significantly associated with pathological stages and the mutation rate increases gradually, which has relation with advanced pathological stages in NSCLC. The results indicate that the SOX4 gene mutations might be related in the lung carcmogenesis and tumor metastasis. The study also provides molecular data for study the links between the mutation of SOX gene and human oncogenesis.

关 键 词：肺癌 非小细胞肺癌 SOX4基因 基因突变 

分 类 号：R686[医药卫生—骨科学]