Jak2 46/1 Haplotype Is Associated With Jak2 V617f-positive Myeloproliferative Neoplasms In Brazilian Patients

dc.creatorMacedo
dc.creatorL. C.; Santos
dc.creatorB. C.; Pagliarini-E-Silva
dc.creatorS.; Pagnano
dc.creatorK. B. B.; Rodrigues
dc.creatorC.; Quintero
dc.creatorF. C.; Ferreira
dc.creatorM. E.; Baraldi
dc.creatorE. C.; Ambrosio-Albuquerque
dc.creatorE. P.; Sell
dc.creatorA. M.; Visentainer
dc.creatorJ. E. L.
dc.date2015-OCT
dc.date2016-06-07T13:19:41Z
dc.date2016-06-07T13:19:41Z
dc.date.accessioned2018-03-29T01:39:51Z
dc.date.available2018-03-29T01:39:51Z
dc.identifier
dc.identifierJak2 46/1 Haplotype Is Associated With Jak2 V617f-positive Myeloproliferative Neoplasms In Brazilian Patients. Wiley-blackwell, v. 37, p. 654-660 OCT-2015.
dc.identifier1751-5521
dc.identifierWOS:000363730500025
dc.identifier10.1111/ijlh.12380
dc.identifierhttp://onlinelibrary.wiley.com/doi/10.1111/ijlh.12380/epdf
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/242742
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1306440
dc.descriptionIntroduction: This study aimed to verify the association between the JAK2 46/1 haplotype (V617F positive) and some hematological parameters in BCR-ABL-negative chronic myeloproliferative neoplasms (cMPNs) in our population. Methods: The blood samples obtained from the patients with cMPN were genotyped for the JAK2 V617F mutation and JAK2 rs10974944 SNP screening using a PCR-RFLP assay. Results: The JAK2 V617F mutation was detected in 80.15% of patients. The G variant of rs10974944 was more frequent in all MPNs, especially those that were JAK2 V617F positive, than in the control population. We also compared the 46/1 haplotype status in each MPN disease entity, polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), and MPNu with controls. The G allele frequency relative to controls was significantly enriched in patients with PV and ET, but not in those with PMF and MPNu. PV and ET patients especially, all of whom had the JAK2 V617F mutation, showed significant excess of the G allele. The frequency of JAK2 V617F mutation was associated with elevated hematological parameters, but when we analyze the occurrence of the mutation and the presence of the G allele, just the high hemoglobin was significantly. Conclusion: In agreement with previous reports, JAK2 46/1 haplotype for JAK2 V617F was associated with cMPN positive in Brazilian patients.
dc.description37
dc.description5
dc.description
dc.description654
dc.description660
dc.description
dc.description
dc.description
dc.languageen
dc.publisherWILEY-BLACKWELL
dc.publisher
dc.publisherHOBOKEN
dc.relationINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
dc.rightsfechado
dc.sourceWOS
dc.subjectEssential Thrombocythemia
dc.subjectPolycythemia-vera
dc.subjectMutational Status
dc.subjectV617f Mutation
dc.subjectRs10974944 Snp
dc.subjectAllele Burden
dc.subjectMyelofibrosis
dc.subjectGene
dc.subjectThrombosis
dc.subjectDisorders
dc.titleJak2 46/1 Haplotype Is Associated With Jak2 V617f-positive Myeloproliferative Neoplasms In Brazilian Patients
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución