Mutations at codon 249 of p53 gene in human hepatocellular carcinomas from Tongan, China

Mutat Res. 1997 Nov 19;381(1):25-9. doi: 10.1016/s0027-5107(97)00142-5.


Codon 249 (exon 7) of the putative tumor suppressor gene p53 is a mutational hot-spot for hepatocellular carcinoma (HCC) but not other tumors. DNA samples from primary HCC patients from Tongan, an area of high HCC incidence in China (> 40 per 100,000 population), were analyzed for specific mutations in codon 249 of the p53 gene using polymerase chain reaction (PCR)/restriction-digest methods and direct DNA sequencing. Seven of the 21 samples screened were found to have a point mutation at the third base position of codon 249 (AGG to AGT). The result is consistent with previous reports that the G-->T transversion is positively associated with the level of dietary aflatoxin B1 (AFB1) contamination, which has been implicated as one of the risk factors in Tongan area. Of the 7 HCC patients that contained the codon 249 point mutation, one was hepatitis B virus (HBV)-negative. This is only the second documentation of an HCC patient harboring the p53 codon 249 mutation, who was HBV-negative.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Hepatocellular / genetics*
  • China
  • Codon
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Female
  • Genes, p53*
  • Hepatitis B Surface Antigens / blood
  • Humans
  • Liver Neoplasms / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Polymerase Chain Reaction / methods
  • Restriction Mapping
  • Risk Factors
  • Sequence Analysis, DNA
  • alpha-Fetoproteins / analysis


  • Codon
  • Hepatitis B Surface Antigens
  • alpha-Fetoproteins
  • Deoxyribonucleases, Type II Site-Specific
  • GGCC-specific type II deoxyribonucleases