Article
Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disorders by fluorescence melting curve analysis.
Molecular diagnosis & therapy - 1 Jan 2006
Reading N Scott, Lim Megan S, Elenitoba-Johnson Kojo S J
Abstract excerpt
BACKGROUND: The genetic lesion underlying the pathogenesis of chronic myeloproliferative disorders (MPDs) has been identified in the Janus kinase 2 (JAK2) gene. A point mutation in codon 617 causes a valine to phenylalanine substitution (V617F) in the JH2 autoinhibitory region of the protein, resulting in constitutive activation of the tyrosine kinase. The high prevalence of this conserved mutation in MPD makes...
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