A sensitive and reliable semi-quantitative real-time PCR assay to detect JAK2 V617F in blood.
Hematol Oncol
; 24(4): 227-33, 2006 Dec.
Article
em En
| MEDLINE
| ID: mdl-17006961
ABSTRACT
Diagnosis of the myeloproliferative disorders, polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) is difficult due to lack of diagnostic markers. Recently, the acquisition of a mutation in the Janus kinase 2 (JAK2) gene by hemopoietic cells has been described as a genetic defect underlying myeloproliferative disorders. The mutation leads to constitutive activation of JAK2, a tyrosine kinase involved in cytokine receptor signalling. Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing myeloproliferative disorders and its relevance for disease progression, we developed a semi-quantitative real-time PCR test to detect JAK2 V617F. With this assay, quantities down to 0.8% JAK2 V617F amongst wild-type DNA could reliably be detected. For quantification purposes, low intra- and inter-assay variabilities ensure good reproducibility of the assay. Thus the JAK2 V617F qPCR assay described here is quick, robust, simple and more sensitive than direct sequencing, RFLP, ARMS assay and other methods published so far to detect JAK2 V617F. We therefore believe that the assay will contribute to early diagnosis of myeloproliferative disorders and to disease management, especially when JAK2-specific inhibitors have become available for therapeutic use.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Policitemia Vera
/
Reação em Cadeia da Polimerase Via Transcriptase Reversa
/
Mutação de Sentido Incorreto
/
Janus Quinase 2
/
Mielofibrose Primária
/
Trombocitemia Essencial
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Hematol Oncol
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Holanda