Artículos de revistas
JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia
Registro en:
Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 30, n. 2, p. 336-338, 2007.
1415-4757
S1415-47572007000300006
10.1590/S1415-47572007000300006
Autor
Monte-Mór, Bárbara da Costa Reis
Cunha, Anderson Ferreira da
Pagnano, Kátia Bórgia Barbosa
Saad, Sara Terezinha
Lorand-Metze, Irene
Costa, Fernando Ferreira
Institución
Resumen
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. 336 338 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)