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Detection of the Janus kinase 2 V617F mutation using a locked nucleic-acid, real-time polymerase chain reaction assay

Tshiphiri Senamela, Marleen Kock, Piet Becker, Joachim J.C. Potgieter
African Journal of Laboratory Medicine | Vol 7, No 1 | a658 | DOI: https://doi.org/10.4102/ajlm.v7i1.658 | © 2018 Tshiphiri Senamela, Marleen Kock, Piet Becker, Joachim J.C. Potgieter | This work is licensed under CC Attribution 4.0
Submitted: 30 June 2017 | Published: 31 January 2018

About the author(s)

Tshiphiri Senamela, National Health Laboratory Services, Pretoria and Department of Haematology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa
Marleen Kock, National Health Laboratory Services, Pretoria and Department of Haematology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa
Piet Becker, National Health Laboratory Services, Pretoria, South Africa
Joachim J.C. Potgieter, National Health Laboratory Services, Pretoria and Department of Haematology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa


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Abstract

The purpose of this study was to develop a real time polymerase chain reaction (PCR) assay for the detection of the JAK2 V617F mutation that could be used in diagnostic laboratories. Sanger sequencing and a newly developed locked nucleic-acid, real-time PCR assay were used to detect the JAK2 V617F mutation. There was 100% agreement between the sequencing and PCR analysis. Both assays were able to detect the mutation in all 24 of the 60 test specimens harbouring the mutation.

Keywords

Janus kinase 2; locked nucleic acid; Myeloproliferative neoplasms; Polymerase chain reaction; Polycythaemia vera

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