Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
Clinics
;
68(1): 5-9, Jan. 2013. ilus, tab
Artículo
en Inglés
| LILACS
| ID: lil-665911
ABSTRACT
OBJECTIVE:
The JAK2 46/1 haplotype has recently been described as a major contributing factor to the development of myeloproliferative neoplasm, whether positive or negative forthe JAK2 V617F mutation. The G allele, identified by a single-nucleotide polymorphism known as JAK2 rs10974944, is part of the JAK2 46/1 haplotype. The aim of this study was to verify the association between the presence of the G allele and the development of BCR-ABL-negative chronic myeloproliferative neoplasms in our population.METHODS:
Blood and oral mucosa swab samples were obtained from 56 patients of two local Brazilian hospitals who had previously been diagnosed with BCR-ABL-negative chronic myeloproliferative neoplasms. Blood samples from 90 local blood donors were used as controls. The presence of the G allele was assessed using a PCR-RFLP assay after extracting DNA from the samples.RESULTS:
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.CONCLUSION:
In agreement with previous reports, the JAK2 46/1 haplotype, represented in this study by the presence of the G allele, is an important predisposing factor in the oncogenetic development of these neoplasms in our population.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Haplotipos
/
Trastornos Mieloproliferativos
Tipo de estudio:
Estudio pronóstico
/
Factores de riesgo
Límite:
Anciano
/
Aged80
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Clinics
Asunto de la revista:
Medicina
Año:
2013
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Estadual de Maringá (UEM)/BR
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