肺癌组织CDKN2/p16基因点突变的分析  

Analysis on point mutation of the CDKN2/p16 gene in lung cancer

作　　者：苏长青[1] 叶玉坤[1] 汪栋[1] 曹祥荣[2] 李淑锋[3] 单祥年[3] 

机构地区：[1]南京八一医院全军肿瘤研究中心,210002 [2]南京师范大学生命科学学院 [3]东南大学医学院生物学教研室

出　　处：《中华医学遗传学杂志》2002年第1期37-40,共4页Chinese Journal of Medical Genetics

基　　金：国家九五重点科技项目 (9690 60 1 1 8) ;国家自然科学基金 (39670 71 4 )~~

摘　　要：目的　研究我国肺癌组织中 CDKN2 / p16基因点突变的发生情况。方法　采用聚合酶链反应 -单链构象多态性和序列分析的方法 ,对 89例肺癌组织中 CDKN2 / p16基因第 2外显子的点突变进行了研究。结果　在未发生第 2外显子缺失的 6 9例肺癌组织中 ,发现 CDKN2 / p16基因第 2外显子变异或可疑变异者 16例 ;对该 16例进行序列分析 ,共发现有 9例存在不同类型的基因点突变。结论　点突变是 CD-KN2 / p16基因失活的一种形式 ,但不是主要形式。由点突变引起的 CDKN2 / p16基因失活在肺癌的发生发展中起一定的作用。Objective. To study the status of CDKN2/p16 gene point mutation in lung cancer. Methods. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and sequencing were used to detect the point mutation of CDKN2/p16 gene exon 2 in 89 cases of lung cancer. Results. In 69 cases of the lung cancer without deletion of CDKN2/p16 gene exon 2, 16 cases were found to have suspicious abnormality of CDKN2/p16 gene exon 2 by PCR-SSCP, and in these 16 cases, 9 were found to harbor point mutations of CDKN2/p16 gene exon 2 by automated sequencing analysis. Conclusion. The point mutation is one of the mechanisms for CDKN2/p16 gene inactivation, but it is not the chief mechanism. The inactivation of CDKN2/p16 gene aroused by point mutation plays a role to some extent in the genesis and progression of lung cancer.

关 键 词：肺肿瘤 CDKN2/P16基因 基因突变 

分 类 号：R734.2[医药卫生—肿瘤]