title: [MPLW515L point mutation in patients with myeloproliferative disease].
abstract: In order to investigate the frequency of MPLW515L and JAK2V617F point mutations of the patients with myeloproliferative disease (MPD) in Nanjing area, MPLW515L and JAK2V617F point mutations were simultaneously detected by alleles specific polymerase chain reaction (AS-PCR) and sequencing in 190 MPD patients. The results showed that MPLW515L point mutation was detected in 1 out of 102 essential thrombocythemia (ET) patients (1.0%) and was not detected in 32 polycythemia vera (PV) patients, 13 idiopathic myelofibrosis (IMF) patients, 43 chronic myelogenous leukemia (CML) patients. JAK2V617F point mutation was detected in 20 out of 32 PV patients (62.5%), 43 out of 102 ET patients (42.2%), 5 out of 13 IMF patients (38.5%), and was not detected in 43 CML patients. It is concluded that MPLW515L point mutation exists in ET patient, but is not found in PV, IMF and CML. JAK2V617F point mutation exists in PV, ET and IMF, but not in CML.
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Xia
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: Su-Jiang
authors.initials: SJ
authors.lastname: Zhang
authors.forename: Lei
authors.initials: L
authors.lastname: Fan
authors.forename: Chun
authors.initials: C
authors.lastname: Qiao
authors.forename: Jian-Yong
authors.initials: JY
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002681:China / Q000453:epidemiology; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D053628:Receptors, Thrombopoietin / Q000235:genetics*; D055815:Young Adult
chemical_list: D053628:Receptors, Thrombopoietin; C082218:MPL protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2