JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia
| Autor: | Bárbara da Costa Reis Monte-Mór, Anderson Ferreira da Cunha, Kátia Bórgia Barbosa Pagnano, Sara Terezinha Saad, Irene Lorand-Metze, Fernando Ferreira Costa |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: | |
| Zdroj: | Genetics and Molecular Biology, Vol 30, Iss 2, Pp 336-338 (2007) |
| Druh dokumentu: | article |
| ISSN: | 1415-4757 1678-4685 |
| DOI: | 10.1590/S1415-47572007000300006 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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