HemaMut Human JAK2-V617F Mutation Qualitative Detection Kit

Background

The Janus kinase 2 gene (JAK2), which is located at 9p24.1 and encodes the JAK2 protein, is associated with cytoplasmic parts of various transmembrane cytokines and growth factor receptors. Also, it is critical for signaling transduction in hematopoietic cells. JAK2 c.1849G > T is a missense mutation in JAK2 exon 14, resulting in the substitution of phenylalanine (F) for valine (V) at position 617 of the pseudokinase's JH2 domain. It is responsible for the constitutive activation of the JAK/STAT signaling pathway as well as other downstream pathways. Besides, the JAK2 V617F mutation presents in 95% to 98% of patients with polyemia, 50% to 60% of patients with primary myelofibrosis (PMF), and 50% to 60% of patients with essential thrombocythemia (ET). Therefore, detecting the JAK2 V617F variant can aid in the diagnosis of myeloproliferative neoplasms (MPNs).

Figure 1

Detection Process

In this method, DNA is isolated and purified from leukocytes of peripheral blood or bone marrow samples. To detect the presence of JAK2 V617F mutation in genomic DNA samples, we perform fluorescence-based quantitative PCR using Locked nucleic acid (LNA) technology combined with Taqman probes.

Figure 2

Kit Detection Results

Specimen Requirements

Peripheral blood or bone marrow (3–5 mL) is collected in the EDTA tube and stored at 2–8 °C for not more than 5 days. RNA extraction is performed within 5 days.

References

[1] The 2016 revision to the World Health Organization classification of myeloid neoplasms and acut leukemi.

[2] Zhijian Xiao. Gene mutations in the diagnosis of MPN and MDS/MPN: current state [J]. Chinese Journal of Hematology, 2014,35

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