原发性胃癌p16^(INK4a)基因缺失和突变的研究  

Deletion and mutation of p16^(INK4a) gene in primary gastric carcinoma

作　　者：陈刚[1] 郑秋红[2] 龚福生[2] 胡丹[1] 郑天荣[1] 

机构地区：[1]福建省肿瘤医院病理科,福建福州350014 [2]福建省肿瘤医院肿瘤分子生物室,福建福州350014

出　　处：《中华肿瘤防治杂志》2006年第19期1489-1492,共4页Chinese Journal of Cancer Prevention and Treatment

基　　金：福建省医学创新课题(2001-CX-12)

摘　　要：目的探讨p16INK4a基因缺失和突变在胃癌发病机制中所起的作用。方法采用多重PCR、PCR-SSCP和DNA测序对62例胃癌、癌旁组织及10例正常胃黏膜标本中p16INK4a基因纯合性缺失和突变进行检测。结果62例胃癌中发现p16INK4a基因第一外显子和第三外显子各有2例纯合性缺失,缺失率6.5%(4/62),PCR-SS-CP和DNA测序发现1例p16INK4a基因第一内含子区碱基插入,突变率1.6%(1/62),癌旁和正常胃黏膜均未发现缺失和突变。结论在原发性胃癌中,p16INK4a基因纯合性缺失率很低、突变罕见。OBJECTIVE：To investigate the role of deletion and mutation of p16^INK4a gene which plays in the pathogenesis of primary gastric carcinoma. METHODS： A total of 62 gastric carcinoma tissues and their adjacent normal tissues and 10 nontumorous gastric tissues from gastritis patients were studied. The homozygous deletion was detectyed by multiple PCR analysis and mutation by PCR-SSCP and DNA sequencing followed. RESULTS： Four cases had p16^INK4a gene homozygous deletions ＂and the deletion rate was 6. 5% （4/62）, 2 cases had deletion in exon 1 and the other 2 cases in exon 3, and no deletion of exon 2 was found. The PCR-SSCP and DNA sequence analysis showed 1 case mutation at intron 1 （1.6 M, 1/62）. No aberrant single strand at PCR-SSCP in exon 2 and exon 3 was detected. No deletion and mutation were found in tumor-adjacent normal tissues and nontumorous gastric tissues. CONCLUSION： Low frequency of homozygous deletion and rare mutation of p16^INK4a gene occurre in gastric carcinoma.

关 键 词：胃肿瘤/遗传学 P16^INK4A基因 纯合性缺失 突变 

分 类 号：R735.2[医药卫生—肿瘤]