Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/34345
Type: Artigo de periódico
Title: JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia
Author: Monte-Mór, Bárbara da Costa Reis
Cunha, Anderson Ferreira da
Pagnano, Kátia Bórgia Barbosa
Saad, Sara Terezinha
Lorand-Metze, Irene
Costa, Fernando Ferreira
Abstract: Polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) are myeloproliferative disorders (MPD) that arise from the clonal proliferation of a pluripotent hematopoietic progenitor, leading to the overproduction of one or more myeloid lineages. Recently, a specific mutation in the JAK2 gene, which encodes a tyrosine kinase, has been shown to be associated with the myeloproliferative phenotype observed in PV, ET and IMF. In this study of Brazilian patients, the JAK2 V617F mutation [c.1887G > T) was detected in four out of 49 patients with PV (96%), 14 out of 25 patients with IMF (56%), and in eight out of 29 patients with ET, which is in accordance with previous screenings of this mutation in other populations.
Subject: JAK2 V617F
myeloproliferative disorders
polycythemia vera
idiopathic myelofibrosis
essential thrombocythemia
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572007000300006
Address: http://dx.doi.org/10.1590/S1415-47572007000300006
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300006
Date Issue: 1-Mar-2007
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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