Detección de la mutación JAK2 V617F en neoplasias mieloproliferativas en población ecuatoriana por reacción en cadena de la polimerasa alelo específica

Abstract

In 2005, five independent research groups reported the association of V617F mutation in the gene encoding the janus kinase 2 (JAK2) Myeloproliferative Neoplasms Small (NMP), including polycythemia vera (PV), Essential thrombocytosis (ET) and primary myelofibrosis (MFP).

This study aimed to detect the JAK2 V617F mutation in Ecuadorian patients through chain reaction polymerase allele specific (AS-PCR). The research design was descriptive cross-sectional and included a total of 40 patients, 20 with NMP and 20 controls attending the various services Haematology Health Institutions participating. Genetic material was extracted and then amplified by AS-PCR, while the clinical hematology of NMP was performed by using specialized clinical, morphological and hematological tests such as blood counts and flow cytometry examination hematologists. The frequency of the JAK2 V617F mutation found was 50% with a rate of 95% confidence. Patients with a greater presence of the mutation (35%) were those with PV, followed by patients with TE (15%), the average age being 45. These data confirm that the JAK2 V617F mutation is prevalent in NMP and has become the molecular marker of both the PV, ET and MFP. Likewise, this study has shown that the AS-PCR method is a quick, easy and cost-effective diagnosis.