p53 gene mutations in pontine gliomas of juvenile onset

Biochem Biophys Res Commun. 1993 Oct 29;196(2):851-7. doi: 10.1006/bbrc.1993.2327.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Astrocytoma / genetics
  • Base Sequence
  • Brain / metabolism
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / metabolism
  • Brain Neoplasms / radiotherapy
  • Child
  • Child, Preschool
  • Codon / genetics
  • DNA Primers
  • Exons
  • Female
  • Genes, p53*
  • Glioma / genetics*
  • Glioma / metabolism
  • Glioma / radiotherapy
  • Humans
  • Male
  • Point Mutation*
  • Polymerase Chain Reaction
  • Pons
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • Codon
  • DNA Primers
  • Tumor Suppressor Protein p53