Neubauer A, Brendel C, Vogel D, Schmidt C A, Heide I, Huhn D
Universitätsklinikum Rudolf Virchow der Freien Universität Berlin, Abteilung für Hämatologie, Germany.
Ann Hematol. 1993 Nov;67(5):223-6. doi: 10.1007/BF01715051.
p53 is one of the most frequently mutated genes in human cancers. Since p53 has been implicated in lymphatic and some myeloid leukemias, such as the blastic phase of chronic myelogenous leukemia, we sought to address the role of p53 gene mutations within exons 4-9 in myelodysplastic syndromes (MDS), a myeloid preleukemic condition. In order to avoid the potential hazard of using radioactive single-strand conformation analysis (SSCP), we used a nonradioactive SSCP method based on the silver stain of small minigels. In cell lines with known point mutations of the p53 gene, aberrant migrating bands were found. Serial dilutions indicated a sensitivity comparable to radioactive methods. Furthermore, a common polymorphism within the 4th exon of the p53 gene was easily detected. However, of 17 primary samples from patients with MDS, none harbored a p53 gene mutation. We conclude that this nonradioactive method can easily be used to screen for p53-gene mutations, and that p53-gene mutations do not play a major role in the pathogenesis of MDS.
p53是人类癌症中最常发生突变的基因之一。由于p53与淋巴系统和某些髓系白血病有关，如慢性粒细胞白血病的急变期，我们试图探讨p53基因第4至9外显子的突变在骨髓增生异常综合征（MDS）中的作用，MDS是一种髓系白血病前期病症。为了避免使用放射性单链构象分析（SSCP）的潜在危害，我们采用了基于小凝胶银染的非放射性SSCP方法。在具有已知p53基因点突变的细胞系中，发现了异常迁移条带。系列稀释表明其灵敏度与放射性方法相当。此外，p53基因第4外显子内的一个常见多态性很容易被检测到。然而，在17例MDS患者的原发性样本中，没有一个存在p53基因突变。我们得出结论，这种非放射性方法可轻松用于筛查p53基因突变，且p53基因突变在MDS发病机制中不发挥主要作用。
