Estandarización de la técnica Real Time PCR para la detección molecular de la mutación V617F en el gen de JAK-2 en neoplasias mieloproliferativas crónicas / Standardization of the Real Time PCR technique for the molecular detection of the V617F mutation in the JAK-2 gene in chronic myeloproliferative neoplasms
Rev. Hosp. Clin. Univ. Chile
;
30(3): 207-217, 2019. tab, graf, ilus
Artículo
en Español
| LILACS
| ID: biblio-1051370
ABSTRACT
V617F mutation in exon 14 of Janus Kinase 2 gene (jak-2) is used as a molecular marker for the diagnosis of Philadelphia negative myeloproliferative neoplasms (Phi-) such as Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (MFP). To detect this mutation, we used conventional polymerase chain reaction technique (PCR), a simple and inexpensive technique, however, has some drawbacks that current technology allows to solve. During the last years, more sensitive molecular techniques have been incorporated in clinical practice to support the diagnosis, prognosis and follow-up of hematological patients. For its implementation in the clinical routine should be considered technical and economic aspects, so in this work, we evaluate the Real Time PCR technique as a diagnostic method for the detection of the Jak-2-V617F mutation, using in house primers design. Our result show that the technique implemented has a concordance index of 0.87 with the conventional PCR used in the molecular diagnosis of myeloproliferative neoplasms. In addition, it has the same specificity, greater sensitivity and, shorter execution time in relation to conventional PCR. The implementation of this diagnostic method in our Hospital is technically possible and commercially convenient. (AU)
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Janus Quinasa 2
/
Reacción en Cadena en Tiempo Real de la Polimerasa
/
Trastornos Mieloproliferativos
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Español
Revista:
Rev. Hosp. Clin. Univ. Chile
Asunto de la revista:
Medicina
Año:
2019
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Hospital Clínico Universidad de Chile/CL
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