title: [The investigation of JAK2 V617F point mutation in myeloproliferative disorders by allele-specific polymerase chain reaction in combination with sequence analysis].
abstract: OBJECTIVE
  To study the JAK2 V617F point mutation in myeloproliferative disorders (MPD) and explore the clinical significance.
  
  
  METHODS
  We used Allele-specific polymerase chain reaction (AS-PCR) in combination with sequence analysis to detect the mutation in genomic DNA of peripheral blood mononuclear cells from 20 chronic myelogenous leukemia (CML) patients, 23 polycythaemia vera (PV), 40 essential thrombocythaemia (ET), 8 idiopathic myelofibrosis (IMF), 3 hypereosinophilic syndrome (HES).
  
  
  RESULTS
  JAK2 V617F was found in 38 (51.4%) of 74 BCR/ABL-negative MPD including 16 PV, 18 ET, 3 IMF and 1 HES patients. All positive samples and 10 negative samples identified by AS-PCR were confirmed by sequence analysis. Mutation-positive patients with ET had significantly increased hemoglobin, hematocrit, and neutrophil proportion than those without the mutation.
  
  
  CONCLUSIONS
  JAK2 V617F mutation is the key molecular genetics feature of BCR/ABL-negative MPD. Detection of JAK2 V617F mutation will bring about a major impact to the diagnosis, classification and treatment of MPD.
authors.affiliation: Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing 210029, China.
authors.forename: Su-jiang
authors.initials: SJ
authors.lastname: Zhang
authors.forename: Wei-da
authors.initials: WD
authors.lastname: Li
authors.forename: Jun-hong
authors.initials: JH
authors.lastname: Song
authors.forename: Wei
authors.initials: W
authors.lastname: Xu
authors.forename: Hong-xia
authors.initials: HX
authors.lastname: Qiu
authors.forename: Jian-yong
authors.initials: JY
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009196:Myeloproliferative Disorders / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D053614:Janus Kinase 2