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| Monte-Mór,Bárbara da Costa Reis; Cunha,Anderson Ferreira da; Pagnano,Kátia Bórgia Barbosa; Saad,Sara Terezinha; Lorand-Metze,Irene; Costa,Fernando Ferreira. |
| 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. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: JAK2 V617F; Myeloproliferative disorders; Polycythemia vera; Idiopathic myelofibrosis; Essential thrombocythemia. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300006 |
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| Lima,Carmen Silvia Passos; Lourenço,Gustavo Jacob; Lorand-Metze,Irene; Nascimento,Helvia; Saad,Sara Teresinha Ollala; Costa,Fernando Ferreira. |
| Exposure to benzene has been associated with haematological diseases such as neutropenia (NEB) and acute myeloid leukaemia (AML). We tested whether the null genotypes of the GSTM1 and GSTT1 genes, involved in benzene inactivation, altered the risk for NEB in southeastern Brazil. Genomic DNA from 55 NEB patients and 330 controls was analysed by multiplex-polymerase chain reaction. The frequency of the GSTM1, GSTT1 and combined null genotypes was similar in patients and controls (GSTM1, 27.3% vs. 38.8%, p = 0.16; GSTT1, 25.5% vs. 19.7%, p = 0.24; GSTM1/GSTT1, 12.7% vs. 6.7%, p = 0.26; respectively). The distribution of genotype classes in NEB patients was similar to normal controls, suggesting that GSTM1 and GSTT1 null genotypes make no specific contribution... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Neutropenia; Glutathione S-transferase; GSTM1; GSTT1. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400006 |
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