Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders

Campbell, Peter J., Scott, Linda M., Baxter, Joanna E., Bench, Anthony J., Green, Anthony R. and Erber, Wendy N. (2006). Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders. In Harry Iland, Mark Hertzberg and Paula Marlton (Ed.), Myeloid Leukemia: Methods and Protocols (pp. 253-264) Totawa, NJ United States: Humana Press. doi:10.1385/1-59745-017-0:253


Author Campbell, Peter J.
Scott, Linda M.
Baxter, Joanna E.
Bench, Anthony J.
Green, Anthony R.
Erber, Wendy N.
Title of chapter Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders
Title of book Myeloid Leukemia: Methods and Protocols
Place of Publication Totawa, NJ United States
Publisher Humana Press
Publication Year 2006
Sub-type Chapter in textbook
DOI 10.1385/1-59745-017-0:253
Series Methods in Molecular Medicine
ISBN 9781588294852
9781597450171
Editor Harry Iland
Mark Hertzberg
Paula Marlton
Volume number 125
Chapter number 16
Start page 253
End page 264
Total pages 12
Total chapters 18
Language eng
Formatted Abstract/Summary
A single acquired mutation in the JAK2 gene has recently been described in human myeloproliferative disorders, including most patients with polycythemia vera and about half of those with essential thrombocythemia and idiopathic myelofibrosis. Reliable and easily implemented methods for detection of this V617F mutation promise to revolutionize the way these disorders are diagnosed and classified, and may in the future have implications for targeted therapeutics. Two polymerase chain reaction-based methods for detection of the mutation are described here. One method is based on allele-specific amplification of the mutant band, and the other on elimination of a restriction enzyme recognition sequence by the mutation. Both methods are significantly more sensitive than conventional sequencing techniques, and could be readily implemented in a molecular diagnostic laboratory.
Keyword Myeloproliferative disorder
Polycythemia Vera
Essential Thrombocythemia
Idiopathic myelofibrosis
Mutation
Q-Index Code BX
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Book Chapter
Collection: UQ Diamantina Institute Publications
 
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Created: Mon, 20 Jul 2015, 10:44:31 EST by Linda Scott on behalf of UQ Diamantina Institute