论文部分内容阅读
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。
PTEN/MMAC1/TEP1 (PTEN) is a newly isolated tumor suppressor gene with mutations in various tumors. We detected mutations in exon 5 and exon 8 of the PTEN gene in 34 human hepatocellular carcinomas. The exon 5 and exon 8 were amplified using intron primers using the polymerase chain method, followed by single strand conformation polymorphism and sequencing techniques to analyze PTEN gene mutations. In 4 cases of hepatocellular carcinoma SSCP, abnormal bands were detected and confirmed by sequencing. Two cases occurred in the fourth intron, and the mutation sites were the same. The other two cases occurred in the eighth exon. One of the two cases of base transversion resulted in the mutation of the cysteine at position 304 of the PTEN protein product to glycine.