title: Analysis of JAK2(V617F) mutation in Chinese patients with myeloproliferative disorders.
abstract: It is now well-recognized that the activating JAK2(V617F) mutation occurs in the majority of patients with polycythemia vera (PV) and approximately half of those with either essential thrombocythemia (ET) or myelofibrosis with myeloid metaplasia (MMM). Here we analyzed JAK2(V617F) mutation in 137 Chinese patients with myeloproliferative disorders by allele-specific polymerase chain reaction (PCR). DNA was extracted from methanol/acetic acid-fixed cells that had been routinely prepared for cytogenetic analysis. A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with PV, 40 (58.8%) of 68 with ET, and eight (66.7%) of 12 with MMM.
authors.affiliation: Jiangsu Institute of Hematology, First Affiliated Hospital of Soochow University, Suzhou, People's Republic of China.
authors.forename: Suning
authors.initials: S
authors.lastname: Chen
authors.forename: Hairong
authors.initials: H
authors.lastname: Fei
authors.forename: Ri
authors.initials: R
authors.lastname: Zhang
authors.forename: Yongquan
authors.initials: Y
authors.lastname: Xue
authors.forename: Jinlan
authors.initials: J
authors.lastname: Pan
authors.forename: Yafang
authors.initials: Y
authors.lastname: Wu
authors.forename: Jiannong
authors.initials: J
authors.lastname: Ceng
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D002648:Child; D002681:China / Q000453:epidemiology; D020732:Cytogenetic Analysis; 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; D016133:Polymerase Chain Reaction; D015995:Prevalence
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2