Estudo da frequência dos haplótipos do gene JAK2 em pacientes portadores de neoplasias mieloproliferativas crônicas

• Autor(a) principal: Silva, Sarah Pagliarini e
• Data de Publicação: 2011
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Repositório Institucional da Universidade Estadual de Maringá (RI-UEM)
• Texto Completo: http://repositorio.uem.br:8080/jspui/handle/1/1899
• topic: Neoplasias mieloproliferativas; Mutação JAK2 V617F; Alelo G; Brasil.; Myeloproliferative disorders; JAK2 V617F mutation; G allele; Brazil.; Ciências da Saúde; Farmácia

The JAK2 46/1 haplotype has recently been described as a major contributor factor to the development of myeloproliferative neoplasm either positive or negative for the JAK2 V617F mutation. The G allele of a specific single nucleotide polymorphism, called JAK2 rs10974944, is part of the JAK2 46/1 haplotype. The aim of this study is to verify the association between the presence of the JAK2 46/1 haplotype, represented by the G allele, and the development of BCR-ABL negative chronic myeloproliferative neoplasms in our population. Blood and oral mucosa swabs samples were obtained from 56 patients, from two local Brazilian hospitals, previously diagnosed as having BCR-ABL negative chronic myeloproliferative neoplasms. Blood samples from 90 local blood donors were used as controls. The presence of the G allele was accessed using a PCR-RFLP assay after DNA sample extraction. The presence of the G allele was strongly associated with the presence of BCR-ABL negative chronic myeloproliferative neoplasms (p=0.0001; OR=2.674; 95% CI=1.630-4.385) in the studied population. In agreement with previous reports, the JAK2 46/1 haplotype, represented here by the presence of the G allele, is an important predisposing factor in the oncogenetic development of these neoplasms in our population.