Data/hora: 17/06/2024 14:26:38

Provedor de dados: | Genetics and Molecular Biology
País: | Brazil
Título: | JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia
Autores: | Monte-Mór,Bárbara da Costa Reis; Cunha,Anderson Ferreira da; Pagnano,Kátia Bórgia Barbosa; Saad,Sara Terezinha; Lorand-Metze,Irene; Costa,Fernando Ferreira.
Data: | 2007-03-01
Ano: | 2007
Palavras-chave: | JAK2 V617F; Myeloproliferative disorders; Polycythemia vera; Idiopathic myelofibrosis; Essential thrombocythemia.
Resumo: | 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 &gt; 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300006
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572007000300006
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.30 n.2 2007
Fonte: | info:eu-repo/semantics/openAccess