title: p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients.
abstract: To elucidate the molecular basis for malignant and premalignant states in Bloom syndrome (BS), p53 mutations were analyzed using Southern blot analysis and DNA sequencing of exons 5-9. p53 point mutations with and without loss of heterozygosity on 17p were detected in malignantly transformed BS cell lines carrying malignant lymphoma (ML) and stomach cancer (STC) antigens on the cell surface. However, p53 mutations were not detected in fresh lymphocytes and B-lymphoblastoid cell lines from four BS patients carrying high sister chromatid exchange (SCE) levels, using Southern blot and DNA sequencing of exons 5-9. Based on these results, we concluded that the p53 gene may not play a key role in the high spontaneous mutation rates (HGPRT locus) in somatic cells of BS patients and that the p53 mutation with an allelic loss of the p53 gene is an important factor in malignant conditions in BS.
authors.affiliation: Department of Anatomy, Kochi Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shiraishi
mesh_terms: D001483:Base Sequence; D001816:Bloom Syndrome / Q000235:genetics*; D015139:Blotting, Southern; D002460:Cell Line; D002461:Cell Line, Transformed; D002872:Chromosome Deletion; D016158:Genes, p53; D008214:Lymphocytes / Q000648:ultrastructure; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction