low frequency of c-mpl gene mutations in iranian patients with philadelphia-negative myeloproliferative disorders
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abstract
background myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. in addition to jak2v617f mutation, several mutations in the c-mpl gene were described in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. the aim of present study was to investigate the frequency of c-mpl and jak2v617f mutations in iranian patients with philadelphia-negative myeloproliferative disorders. material and methods peripheral blood samples from 60 patients with philadelphia-negative mpd) subgroups et and pmf) and 25 healthy subjects as control were collected in order to investigate the mutation status of c-mpl and jak2v617f by using amplification-refractory mutation system (arms) and allele-specific pcr (as-pcr), respectively and results were confirmed by sequencing. results among the total 60 patients studied, 34 (56.6%) and 1(1.7%) had jak2v617f and c-mpl mutation, respectively. patients with jak2v617f mutation had higher wbc counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). in addition for all healthy subjects in control group, mutation was negative. conclusions the present study revealed that the c-mpl mutations unlike the jak2v617f mutations were rare in iranian patients with ph-negative mpns and the low mutation rate should be considered in the design of screening strategies of mpd patients.
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Journal title:
iranian journal of pediatric hematology and oncologyجلد ۵، شماره ۱، صفحات ۴۳-۵۱
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