Zhang S, Feng X, Koga H, Ichikawa T, Abe S, Kumanishi T
Department of Neuropathology, Niigata University, Japan.
Biochem Biophys Res Commun. 1993 Oct 29;196(2):851-7. doi: 10.1006/bbrc.1993.2327.
Using polymerase chain reaction-single strand polymorphism(PCR-SSCP) and nucleotide analyses, p53 gene mutation was examined in 13 pontine gliomas many of which were of juvenile onset. A total of 15 mutations were detected in 8 cases, of which 5 revealed multiple or tandem mutations. The mutations included 6 G:C-A:T and 4 A:T-G:C transitions and 4 G:C-T:A and 1 A:T-T:A transversions. There was only 1 transition at the CpG site. Normal tissues of the same patients revealed no mutation, suggesting that these mutations were somatic, but not of germ line, in nature. The pattern of mutation characterized by frequent multiple or tandem occurrence, predominancy of transition at non-CpG sites and relatively frequent transversions suggested that pontine glioma might be related with some mutagenic or carcinogenic agents.
采用聚合酶链反应-单链多态性（PCR-SSCP）和核苷酸分析方法，对13例桥脑胶质瘤（其中许多为幼年发病）进行了p53基因突变检测。在8例病例中总共检测到15个突变，其中5例显示多个或串联突变。这些突变包括6个G:C-A:T和4个A:T-G:C转换以及4个G:C-T:A和1个A:T-T:A颠换。仅在CpG位点有1个转换。同一患者的正常组织未显示突变，表明这些突变本质上是体细胞突变，而非种系突变。以频繁出现多个或串联突变、非CpG位点转换占优势以及相对频繁的颠换为特征的突变模式表明，桥脑胶质瘤可能与某些诱变剂或致癌剂有关。
