口腔鳞状细胞癌3p24等位基因杂合缺失的研究及序列测定  

Study on loss of heterozygosity and sequence analysis on the allele genes of chromosome 3p24 in oral squamous cell carcinomas

作　　者：金芮竹[1,2] 蒋立坚[1] 靳华[2] 

机构地区：[1]中山大学附属第三医院口腔科,510630 [2]武警广东总队医院口腔科,510507

出　　处：《新医学》2009年第4期224-226,共3页Journal of New Medicine

摘　　要：目的:探讨3号染色体短臂24区域EAβMD(3p24EAβMD)位点等位基因杂合缺失与口腔鳞状细胞癌(口腔鳞癌)的关系。方法:采用聚合酶链反应-限制性片段长度多态性检测100例口腔鳞癌患者的口腔正常组织和肿瘤组织中的3p24EAβMD位点杂合缺失情况,并对杂合缺失阳性配对标本的等位基因片段进行克隆及序列测定。结果:100对标本中,发现正常组织有信息个体44份,其相应肿瘤组织出现杂合缺失23份,杂合缺失率为52%。与正常组织限制性内切酶的MD位点的测序结果对照,杂合缺失的阳性克隆配对标本均发生点突变。结论:口腔鳞癌组织中3p24EAβMD位点的杂合缺失率较高,常为点突变,提示该位点附近可能存在潜在的口腔鳞癌抑癌基因。Objective： To investigate the relationship between loss of heterozygosity （LOH） on the allele genes of the EAβMD site of chromosome 3p24 （3p24 EAβMD）and oral squamous cell carcinoma （OSCC）. Methods： The DNA from normal tissues and neoplasm tissues of 100 patients with OSCC were detected for LOH on 31224 EAβMD by polymerase chain reaction-restriction fragment length polymorphisms（PCR-RFLP）. Positive specimens of LOH were cloned and the sequences were analyzed. Results： Within 100 cases, the frequency of LOH on 3p24 EAβMD was 52% （23/44）. Compared with genes sequence on 3p24 EAβMD of normal tissues, point muta- tions were observed in all positive clones of relevant neoplasm tissues with LOH. Conclusion： LOH on 3p24 EAβMD occurs frequently in OSCC, which is usually caused by point mutation. It suggests that a novel tumor sup- pressor gene of OSCC may be nearby the EA^MD site.

关 键 词：口腔鳞状细胞癌 杂合缺失 等位基因 克隆 基因测序 聚合酶链反应-限制性片段长度多态性 

分 类 号：R739.8[医药卫生—肿瘤]