肝细胞癌PTEN外显子5和8基因突变检测  

The detection of PTEN gene exon 5,8 mutation in patients with hepatocellular carcinoma

作　　者：崔石昌[1] 姜君 郑加生[1] 张世杰[3] 钱智玲[1] 丁惠国[4] 

机构地区：[1]首都医科大学附属北京佑安医院肝病介入中心,100069 [2]北京宏微特斯生物科技有限公司 [3]首都医科大学附属北京佑安医院病理中心,100069 [4]首都医科大学附属北京佑安医院肝病消化中心,100069

出　　处：《北京医学》2013年第3期204-206,共3页Beijing Medical Journal

基　　金：北京市卫生系统高层次卫生技术人才培养计划(2011-2-19);佑安肝病艾滋病基金(BJYAH-2011-032)

摘　　要：目的探讨PTEN外显子5、8基因突变与肝细胞癌(HCC)的关系。方法 44例HCC患者收集39份石蜡组织标本和7份外周血单个核细胞标本。标本提取DNA,进行巢式PCR扩增,扩增产物纯化后分别测序,结果采用SeqMan软件分析。结果 45份标本PTEN外显子5、8未发现基因突变。1份HCC病理标本在PTEN外显子8第922位出现CGT-TGT点突变(c922C>T),引起编码蛋白308位Arg308Cys突变。PTEN基因突变率为2.17%。结论 PTEN在HCC中突变频率不高。PTEN基因正常并不意味着蛋白正常表达,PTEN基因突变可能是PTEN蛋白表达缺失的原因之一,但不是惟一原因。Objective To detect PTEN gene exon 5 and 8 mutations in patients with hepatocellular carcinoma （HCC）. Methods Forty-six samples, including 39 HCC samples and 7 PBMC samples, from 44 HCC patients were ana- lyzed in this study. DNA was extracted from the samples, and amplified by nested PCR. SeqMan sequence analysis was used to detect the mutations of exon 5 and 8 of PTEN gene. Results Mutations were not detected in 45 samples. Point mutation（c922C〉T）in exon 8 of PTEN was detected in one sample of HCC tissue. The mutation rate was 2.17%. This gene mutation could result in mutation of the protein at the site of 308 （Arg308Cys）. Conclusion The mutation rate of PTEN gene is not high in HCC. The normal PTEN gene does not mean that the expressed protein is normal. The PTEN gene mutation is one, but not the only reason of defective expression of PTEN protein.

关 键 词：肝细胞癌 PTEN基因 序列 突变 

分 类 号：R735.7[医药卫生—肿瘤]