染色体3p14.2-14.3区域一个与鼻咽癌相关新基因的克隆  

Molecular cloning of a novel gene down-regulated in nasopharyngeal carcinoma

作　　者：田芳[1] 陈主初[1] 段朝军[1] 何春梅[1] 曾平耀[1] 关勇军[1] 潘乾[2] 陈永恒[2] 夏家辉[2] 

机构地区：[1]湖南医科大学肿瘤研究所肿瘤细胞生物研究室,湖南长沙410078 [2]湖南医科大学医学遗传学国家重点实验室,湖南长沙410078

出　　处：《癌症》2000年第11期955-960,共6页Chinese Journal of Cancer

基　　金：卫生部科学研究基金!( No.96- 1- 131);国家自然科学基金!( No.39970287;30000188);医学遗传学国家重点实验室开放课题基金

摘　　要：目的：在染色体 3p14.2- 14.3区域寻找与鼻咽癌发生发展密切相关的新基因。方法：运用 RACE方法获取基因全长 cDNA序列， pEGFP质粒与脂质体共转染 COS7细胞进行新基因的蛋白质定位。结果：在 3p14.2- 14.3区域克隆了一个在鼻咽癌中表达下调新基因的全长 cDNA序列，被命名为 NPCDR1，编码 109个氨基酸，其蛋白质聚集在细胞核内，其基因组由 2个外显子和 1个内含子组成。 Northern印迹杂交发现鼻咽癌组织中存在异常转录本。突变检测发现单碱基多态性改变。结论： NPCDR1基因可能是一个新的候选抑瘤基因，其表达下调可能与鼻咽癌的发生发展有关。Objective： The current study was designed to search chromosome 3p14.2- 14.3 for novel genes closely related with occurrence and development of nasopharyngeal carcinoma (NPC). Methods： By using 5′- , 3′- RACE and cDNA walking, a full- length cDNA sequence was obtained. Co- transfection of the cDNA and pEGFP (expressing green fluroresence protein) into COS7 cells was used to locate the protein in the cells. Results： A full- length cDNA sequence, encoding 109 amino acids, was obtained. It was named as NPCDR1 gene by human union of gene order (HUGO). NPCDR1 gene was mapped to chromosome 3p14.2- 14.3. It consists of 2 exons and 1 intron. By Northern blot hybridization, shortened abnormal transcripts were detected in nasopharyngeal carcinomas. GFP- protein detection indicated the NPCDR1 protein was localized in the cellular nuclei. Nucleotide polymorphism was found by mutational analysis. Conclusion： NPCDR1 gene is closely associated with NPC and may play a role in NPC pathogenesis.

关 键 词：鼻咽肿瘤 3p14.2-14.3 基因克隆 染色体 

分 类 号：R739.63[医药卫生—肿瘤]