An Ava I polymorphism in the TP53 gene

Mol Cell Probes. 1999 Oct;13(5):393-5. doi: 10.1006/mcpr.1999.0256.


TP53 gene plays a major role in the process of malignant transformation and tumour progression so that abnormalities such as point mutation or allelic loss of this gene are a common finding in different tumour types. Most of the mutations identified cover a conserved region of the gene, spanning from exon 4 to exon 9. The present report describes a novel polymorphism, 12 nucleotides downstream the splicing junction of exon/intron 9 identified in a cohort of 103 Italian healthy blood donors. The polymorphism results in the creation of a new restriction site for Ava I.

MeSH terms

  • Blood Donors
  • DNA Restriction Enzymes / genetics
  • Exons
  • Female
  • Gene Frequency
  • Genes, p53 / genetics*
  • Humans
  • Introns
  • Italy / epidemiology
  • Male
  • Point Mutation
  • Polymorphism, Genetic / genetics
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational


  • DNA Restriction Enzymes