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Titolo:
Abnormalities of the p53 gene in juvenile myelomonocytic leukaemia
Autore:
Miyauchi, J; Asada, M; Tsunematsu, Y; Kaneko, Y; Kojima, S; Mizutani, S;
Indirizzi:
Natl Childrens Hosp, Dept Clin Lab, Setagaya Ku, Tokyo 1548509, Japan NatlChildrens Hosp Tokyo Japan 1548509 etagaya Ku, Tokyo 1548509, Japan Natl Childrens Hosp, Dept Haematol Oncol, Tokyo 154, Japan Natl Childrens Hosp Tokyo Japan 154 ept Haematol Oncol, Tokyo 154, Japan Natl Childrens Med Res Ctr, Dept Virol, Tokyo 154, Japan Natl Childrens Med Res Ctr Tokyo Japan 154 Dept Virol, Tokyo 154, Japan Saitama Canc Ctr, Ina, Saitama 362, Japan Saitama Canc Ctr Ina Saitama Japan 362 Canc Ctr, Ina, Saitama 362, Japan Nagoya Univ, Aichi, Japan Nagoya Univ Aichi JapanNagoya Univ, Aichi, Japan
Titolo Testata:
BRITISH JOURNAL OF HAEMATOLOGY
fascicolo: 4, volume: 106, anno: 1999,
pagine: 980 - 986
SICI:
0007-1048(199909)106:4<980:AOTPGI>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHRONIC MYELOGENOUS LEUKEMIA; MALIGNANT MYELOID DISORDERS; CHRONIC MYELOCYTIC-LEUKEMIA; TUMOR-SUPPRESSOR GENE; NEUROFIBROMATOSIS TYPE-1; BLAST CRISIS; BONE-MARROW; NF1 GENE; MUTATIONS; CHILDREN;
Keywords:
p53; juvenile myelomonocytic leukaemia; JCML; CML; blast crisis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Miyauchi, J Natl Childrens Hosp, Dept Clin Lab, Setagaya Ku, 3-35-31 Taishido, Tokyo 1548509, Japan Natl Childrens Hosp 3-35-31 Taishido Tokyo Japan1548509 apan
Citazione:
J. Miyauchi et al., "Abnormalities of the p53 gene in juvenile myelomonocytic leukaemia", BR J HAEM, 106(4), 1999, pp. 980-986

Abstract

Juvenile chronic myelomonocytic leukaemia (JMML) is a rare myeloproliferative disorder of childhood. Fewer than 30% of cases of JMML terminate in a blast crisis: however, its molecular mechanism is unknown. Since mutation and/or deletion of the p53 gene has been reported to be associated with disease progression in a wide variety of human cancers, including adult-type chronic myelogenous leukaemia, we studied the p53 gene in 20 patients with JMML (16 samples in chronic phase and seven at blast crisis). Exons 4-8 of thep53 gene, which cover all the hot spots of point mutations, were amplifiedby the polymerase chain reaction (PCR) method and subjected to mutation screening by single-strand conformation polymorphism analysis. No mobility shift of single-strand DNA of PCR products in polyacrylamide gel electrophoresis, indicating point mutations, was found in 19/20 patients, DNA of the remaining patient in the chronic phase failed to be amplified by PCR and Southern blot analysis with XbaI-digested genomic DNA revealed a gross rearrangement (presumed deletion) of the p53 gene. These data indicate that abnormalities of the p53 gene are rare in JMML, and not responsible for acute transformation, but could be involved in the pathogenesis of some cases of JMML.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 09:43:55