Castresana J S, Rubio M P, Gómez L, Kreicbergs A, Zetterberg A, Barrios C
Instituto de Investigaciones Biomédicas, CSIC, Madrid, Spain.
Eur J Cancer. 1995;31A(5):735-8. doi: 10.1016/0959-8049(95)00121-x.
To determine the frequency and type of TP53 mutations in human sarcomas, we examined exons 5-8 of the TP53 gene in 48 sarcomas using single-strand conformation polymorphism (SSCP) analysis and direct sequencing. Nine tumours had mobility-shifts on SSCP analysis, and sequencing of six of these tumours revealed 10 mutations: one insertion, two deletions and seven point mutations (four transitions and three transversions). Four of these mutations resulted in frame-shifts, one in a truncated protein, four cases in mono-allelic point mutations and one case in an altered splice site. These data show that approximately 20% of sarcomas harbour TP53 gene alterations and illustrate a variety of TP53 gene mutation types.
为了确定人类肉瘤中TP53基因突变的频率和类型，我们使用单链构象多态性（SSCP）分析和直接测序法检测了48例肉瘤中TP53基因的第5至8外显子。9个肿瘤在SSCP分析中出现迁移率改变，对其中6个肿瘤进行测序发现了10个突变：1个插入突变、2个缺失突变和7个点突变（4个转换突变和3个颠换突变）。这些突变中有4个导致移码突变，1个导致截短蛋白，4例为单等位基因突变，1例为剪接位点改变。这些数据表明，约20%的肉瘤存在TP53基因改变，并说明了TP53基因突变的多种类型。
