Codon 249 (exon 7) of the putative tumor suppressor gene p53 is a muta
tional hot-spot for hepatocellular carcinoma (HCC) but not other tumor
s. DNA samples from primary HCC patients from Tongan, an area of high
HCC incidence in China (> 40 per 100 000 population), were analyzed fo
r specific mutations in codon 249 of the p53 gene using polymerase cha
in 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 c
onsistent with previous reports that the G --> T transversion is posit
ively associated with the level of dietary aflatoxin B-1 (AFB(1)) cont
amination, which has been implicated as one of the risk factors in Ton
gan area. Of the 7 HCC patients that contained the codon 249 point mut
ation, one was hepatitis B Virus (HBV)-negative. This is only the seco
nd documentation of an HCC patient harboring the p53 codon 249 mutatio
n, who was HBV-negative. (C) 1997 Elsevier Science B.V.