[Mutation analysis of the tumor suppressor gene PTEN/MMAC1/TEP1 in human hepatocellular carcinoma].
PTEN/MMAC1/TEP1 is a tumor suppressor gene. Its mutation has been found in several different types of human cancers. 34 primary human hepatocellular carcinomas have been examined for mutations in exon 5 and exon 8 of the PTEN gene. Exon 5 and exon 8 were amplified by polymerase chain reaction (PCR) with intronic primers and subjected to single strand conformation polymorphism (SSCP) analysis. SSCPs were found in 4 of the 34 hepatocellular carcinomas analyzed. Direct sequencing of the PCR products identified single base-pair substitutions in the four tumor DNA samples, two in intron 4 and two in exon 8. One of the base-pair substitution in exon 8 is a missense mutation, which changed codon 304 of PTEN protein from Cys to Gly. These data suggest that PTEN may be involved in the carcinogenesis and development of hepatocellular carcinoma.
Zhang
L N
LN
Ministry of Health Key Labotory of Glycoconjugate, Department of Biochemistry, Shanghai Medical University, Shanghai 200032.
Zha
X L
XL
Yu
Q
Q
He
J Y
JY
D006528:Carcinoma, Hepatocellular / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016147:Genes, Tumor Suppressor; D008113:Liver Neoplasms / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational