title: Mutations of the p53 gene in lymphoid leukemia.
abstract: p53 is currently considered to be a tumor suppressor gene product, and its alterations are suggested to be involved in several human malignancies. Here we show evidence of the possible involvement of p53 gene mutations in lymphoid leukemias studied by reverse transcriptase-polymerase chain reaction, single strand conformation polymorphism analysis, and nucleotide sequencing. Fourteen patients with various leukemias were examined and two with acute lymphoblastic leukemia and one with Waldenström's macroglobulinemia were identified to have mutations in the coding region of the p53 gene. These mutations included point mutation, triplet deletion, and single nucleotide insertion. Furthermore, expression of the wild-type p53 mRNA was not detected in the samples from these three patients. In one of them, chromosome 17p was deleted, suggesting the absence of the nonmutated p53 gene, whereas in the other two patients, chromosome 17p seemed to be intact by cytogenetic analysis. Our results suggest that alterations of the p53 gene may have a role in the genesis of some leukemias.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sugimoto
authors.forename: H
authors.initials: H
authors.lastname: Toyoshima
authors.forename: R
authors.initials: R
authors.lastname: Sakai
authors.forename: K
authors.initials: K
authors.lastname: Miyagawa
authors.forename: K
authors.initials: K
authors.lastname: Hagiwara
authors.forename: H
authors.initials: H
authors.lastname: Hirai
authors.forename: F
authors.initials: F
authors.lastname: Ishikawa
authors.forename: F
authors.initials: F
authors.lastname: Takaku
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004251:DNA Transposable Elements; D015870:Gene Expression; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D007945:Leukemia, Lymphoid / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D012194:RNA-Directed DNA Polymerase; D008258:Waldenstrom Macroglobulinemia / Q000235:genetics
chemical_list: D004251:DNA Transposable Elements; D012333:RNA, Messenger; D004247:DNA; D012194:RNA-Directed DNA Polymerase