Study of the p.V۶۱۷F and Exon ۱۲ Mutations in JAK۲ Gene Among Iranian Chronic Myeloproliferative Patients

Background: Chronic myeloproliferative disorders (CMPD) occur due toclonal proliferation of the single hematopoietic stem cellsand result in an increased number of mature and immature cells in the peripheral blood. The mutations in JAK۲ gene are identifiedin large numbers of CMPD patients.Objectives: The aim of this study was to investigate thep.V۶۱۷F (c.۱۸۴۹G > T) mutation as well as exon ۱۲ mutations in JAK۲ gene inthe CMPD patients.Methods: Philadelphia chromosome negative CMPD patients were recruited for this study. In order to study p.V۶۱۷F and JAK۲ exon۱۲ mutations in JAK۲ gene, FRET probe real-time PCR, allele specific PCR and PCR-direct sequencing were utilized.Results: JAK۲ p.V۶۱۷F mutation was found in polycythemia vera, Essential thrombocytosis and idiopathic myelofibrosis (۶۷%, ۵۲%and ۵۰% respectively) but not in idiopathic erythrocytosis patients. Also no mutation was found in JAK۲ exon ۱۲ of these patients.Conclusions: Our data regarding p.V۶۱۷F was in concordance with the previous studies. The absence of any mutation in exon ۱۲ ofour patients may be due to extracting DNA from whole blood cells instead of granulocytes, that may impact the detection rate ofcycle sequencing method.

Keywords:

Myeloprolifrative Disorders , Polycythemia Vera , Essential Thrombocytosis , Idiopathic Myelofibrosis , IdiopathicErythrocytosis , JAk۲