AI Article Synopsis
- Researchers developed a multiplex real-time PCR method to quickly detect the V617F mutation in the JAK2 gene along with inherited mutations in factors F5 and F2, linked to thrombotic events.
- The method utilized the LightCycler 2.0 and allowed simultaneous amplification of all three genes in a closed tube system with specific primers and FRET-hybridization probes.
- In a study of 41 samples, 46.34% tested positive for the V617F mutation, with a notable percentage also showing heterozygosity for factors F2 and F5, demonstrating the technique's efficiency and reliability in molecular diagnosis.
Article Abstract
Background: During the last years the appearance of the acquired V617F mutation of the Janus Kinase 2 gene (JAK2) in patients suffering different thrombotic events has been described. We decided to develop a new and rapid multiplex real-time Polymerase Chain Reaction (PCR) in order to detect the V617F mutation together with the inherited prothrombotic mutations of factors F5 and F2.
Design And Methods: The method was carried out on the LightCycler 2.0 (Roche Diagnostics, Mannheim, Germany) and consisted in a first step of simultaneous amplification by real-time PCR of the three genes to be genotyped, in a 20microl closed tube, using a primer pair together with the correspondent FRET-hybridization probes for each gene.
Results: We assayed 41 samples in the multiplex PCR reaction, 19 were positive (46.34%) for V617F mutation. From the V617F positive samples we found 1 sample heterozygous for F2 (5.26%) and 1 sample heterozygous for F5 (5.26%), so a 10.52% of the samples tested combine V617F mutation with inherited thrombophilic mutations. Results were clear, rapid and reliable allowing a significant time saving.
Conclusions: The technique presented in this manuscript is a new achievement in the field of the molecular diagnosis that combines the genotyping of F5 and F2 with the assessment of the JAK2 (V617F) mutation load.
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| http://dx.doi.org/10.1016/j.cca.2009.09.022 | DOI Listing |
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