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人肝细胞癌中抑癌基因PTEN/MMAC1/TEP1的突变分析
引用本文:张利能,查锡良,俞强,贺建宇.人肝细胞癌中抑癌基因PTEN/MMAC1/TEP1的突变分析[J].分子细胞生物学报,2000,33(3):223-228.
作者姓名:张利能  查锡良  俞强  贺建宇
作者单位:张利能(卫生部糖复合物重点实验室,上海医科大学生物化学教研室,上海 200032);查锡良(卫生部糖复合物重点实验室,上海医科大学生物化学教研室,上海 200032);俞强(The Pulmonary Center and Department of Biochemistry, Boston Univershy Medical Center, Boston, MA 02118, USA);贺建宇(上海医科大学中山医院肝癌研究所,上海 200032)
基金项目:本课题受国家自然科学基金(No.39970338)、高等学校博士学科点专项科研基金和上海市教委重点学科项目基金资助。
摘    要:PTEN/MMAC1/TEP1(PTEN)是新近分离到的抑癌基因,在多种肿瘤中存在突变。我们检测了34例人肝细胞癌中PTEN基因第5外显子和第8外显子的突变。采用聚合酶链方法以内含子引物扩增第5和第8外显子,继之以单链构象多态性和测序技术分析PTEN基因突变。有4例肝细胞癌SSCP显示异常条带并经测序证实存在突变。2例发生于第4内含子,突变位点相同;另两例发生于第8外显子,其中1例碱基颠换导致PTEN蛋白产物304位半胱氨酸突变为甘氨酸。

关 键 词:抑癌基因  PTEN  人肝细胞癌  基因突变  单链构象多态性
修稿时间:1999-11-19

MUTATION ANALYSIS OF THE TUMOR SUPPRESSOR GENE PTEN/MMAC1/TEP1 IN HUMAN HEPATOCELLULAR CARCINOMA
ZHANG Li Neng,ZHA Xi Liang,YU Qiang,HE Jian Yu.MUTATION ANALYSIS OF THE TUMOR SUPPRESSOR GENE PTEN/MMAC1/TEP1 IN HUMAN HEPATOCELLULAR CARCINOMA[J].Journal of Molecular Cell Biology,2000,33(3):223-228.
Authors:ZHANG Li Neng  ZHA Xi Liang  YU Qiang  HE Jian Yu
Institution:ZHANG Li Neng ,ZHA Xi Liang ;(ZHA Xi Liang);YU Qiang ;(The Pulmonary Center and Department of Biochemistry, Boston Univershy Medical Center, Boston, MA 02118, USA);HE Jian Yu ;(Liver Cancer Institute , Zhongshan Hospital, Shanghai Medical University, Shanghai 200032)
Abstract:PTEN/MMAC1/TEP1 is a tumor suppressor gene. Its mutation has been found in several different types of human cancers. 34 primary human hepatocellular carcinomas have been examined for mutations in exon 5 and exon 8 of the PTEN gene. Exon 5 and exon 8 were amplified by polymerase chain reaction (PCR) with intron-ic primers and subjected to single strand conformation polymorphism (SSCP) analysis. SSCPs were found in 4 of the 34 hepatocellular carcino- mas analyzed. Direct sequencing of the PCR products identified single base-pair substitutions in the four tumor DNA samples, two in intron 4 and two in exon 8. One of the base-pair substitution in exon 8 is a missense mutation, which changed codon 304 of PTEN protein from Cys to Gly. These data suggest that PTEN may be involved in the carcinogenesis and development of hepatocellular carcinoma.
Keywords:Tumor suppressor gene    PTEN    Human hepatocellular tumor    Gene mutation    SSCP
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