原发性肝细胞肝癌发生发展中p16基因的遗传学改变  

GENETIC ALTERATIONS OF pl6 GENE IN THE GENESIS AND PROGRESS OF PRIMARY HEPATOCELLULAR CARCINOMA

作　　者：沈明明 周梅芳 杨健 林彬 顾蒙曦 周肖英 

机构地区：[1]江苏省宜兴人民医院,江苏宜兴214200 [2]江苏省无锡卫生学校,江苏无锡214011 [3]江苏省无锡卫生监督所,江苏无锡214011

出　　处：《实用临床医药杂志》2005年第5期49-51,共3页Journal of Clinical Medicine in Practice

基　　金：江苏省卫生厅医学科技发展基金科研课题及补助基金(J200310)

摘　　要：目的研究人原发性肝细胞肝癌中pl6基因DNA水平上发生的遗传学改变。方法采用聚合酶链反应(PCR)和全自动序列分析的方法,研究84例肝癌和癌旁肝组织中pl6基因第1、2外显子纯合缺失和点突变的情况。结果84例肝癌标本中p16基因第1外显子缺失9例,第2外显子缺失23例,其中有3例第1、2外显子共同缺失,总缺失率为34.5%。未发生基因缺失的病例,经过全自动序列分析,未发现点突变。结论原发性肝细胞肝癌中p16基因失活的主要机制是基因纯合缺失,点突变发生率可能非常低。而未发生基因缺失和突变的肝癌,以及发生p16蛋白阴性表达的癌旁肝组织,p16基因失活的原因可能是包括基因甲基化在内的其他遗传学改变引起的。Objective: To study the genetic alterations of pl6 gene in primary hepatocellular carcinoma. Methods: Polymerase chain reaction (PCR) and sequencing analysis were used to detect the homozygous deletion and point mutation of p16 gene in 84 cases of primary hepatocellular carcinomas and their adjacent liver tissues. Results: Of the 84 cases of hepatocellular carcinomas, 9 were shown with pl6 gene exon 1 deletion, 23 were shown with pl6 gene exon 2 deletion. the total homozygous deletion rate was 34.5%, in which 3 were with deletion of both exon 1 and exon 2. In the cases without p16 gene deletion, the sequencing analysis demonstrated that no cases were found with point mutation of p16 gene. Conclusion: The inactivation of p16 gene was mainly ascribed to gene homozygous deletion, and rarely because of gene point mutation. In the cases without homozygous deletion and point mutation, including primary hepatocellular carcinomas and the adjacent liver tissues which were negative for p16 protein expression, the mechanism of p16 inactivation may be caused by DNA methylation and other genetic alterations.

关 键 词：原发性肝细胞肝癌 P16基因 纯合缺失 点突变 

分 类 号：R735.7[医药卫生—肿瘤]