Detection of the JAK2^V617F mutation in myeloproliferative disorders - an overview and own experiences

Czech version

Authors: Z. Křístková; D. Dvořáková; F. Rázga; J. Pospíšilová; J. Kujíčková; M. Doubek; J. Mayer
Authors‘ workplace: Centrum molekulární biologie a genové terapie, Interní hematoonkologická klinika (IHOK), FN Brno a LF MU, kooperující pracoviště České leukemické skupiny – pro život (CELL , The CzEch Leukemia Study Group – for Life)
Published in: Transfuze Hematol. dnes,15, 2009, No. 3, p. 143-148.
Category: Comprehensive Reports, Original Papers, Case Reports

Overview

The lack of reliable molecular markers is responsible for difficult detection and monitoring of Ph-negative myeloproliferative diseases, such as polycythemia vera, essential thrombocythemia or idiopathic myelofibrosis. In recent years, the V617F point mutation in the JAK2 gene (JAK2^V617F) come to be a feasible marker for confirmation and evaluation of such hematology disorders. In this paper we report a review of diagnostic methods developed for investigation of JAK2 gene mutations and we present our experience with detection of JAK2^V617F. Two methods (allelic discrimination analysis and real-time polymerase chain reaction for quantitative determination of mutant allele burden) are compared and discussed. We conclude that this detection of JAK2^V617F mutant allele burden may be used for establishing possible correlation between clinical symptoms and hematologic abnormalities for patients suffering from myeloproliferative disorders.

Key words:
JAK2^V617F, myeloproliferative disorders, real-time polymerase chain reaction, allelic discrimination, allele burden

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