Identification Of An JAK2 Mutation In Chronic Myeloproliferative Disorders By DFARMS

Objective To identify an JAK2 mutation in chronic myeloproliferative disorders(CMPDs)by double fluorescent-amplification refractory mutation system(dFARMS)and evalue significance ofJAK2V617F in diagnosis and therapy of CMPDs.Methods Firstly,bcr/abl fusion gene were identified in 36 cases with CMPDs by reverse transcription polymerase chain reaction(RT-PCR).Secondly,identify an JAK2V617F mutation in 36 CMPDs by double fluorescent-amplification refractory mutation system and check the cases with JAK2V617F gene by sequencing.Results1.all of 36 CMPDs cases'bcr/abl fusion gene were negative.2.36 cases'specimen were amplified by dFARMS,then the results of amplificative production though gel electrophoresis showed that the JAK2V617F mutation was identified in 14 polycythemia vera(PV),6 essential thrombocythemia(ET),and 1 idiopathic myelofibrosis(IMF)cases;the results of amplificative production though capillary electrophoresis showed that the JAK2V617F mutation was identified in 16 polycythemia vera(PV),10 essential thrombocythemia(ET),and 1 idiopathic myelofibrosis(IMF)cases.3.12 cases of 27 cases with JAK2V617F mutation have developed complications and their quantity of JAK2V617F mutation was higher,but 9 cases without JAK2V617 mutation had no complication. Conclution1.the incidence rate of JAK2V617F mutation is high in CMPDs cases without bcr/abl fusion gene.2.the method of double fluorescent-amplification refractory mutation system has improved sensitivity and can quantified the JAK2V617F mutation.3.CMPDs cases with JAK2V617F mutation develop complication easily.