title: Analysis of JAK2V617F mutation in Jordanian patients with myeloproliferative neoplasms.
abstract: OBJECTIVE
  Myeloproliferative neoplasms (MPNs) are heterogeneous clonal bone marrow stem cell disorders and include polycythemia vera (PV), essential thrombocythemia (ET), and idiopathic myelofibrosis (IMF) neoplasia. In 2005, the JAK2(V617F) mutation was identified in Philadelphia chromosome-negative patients. The aim of this study was to sequence coding exons 12 and 14 of the JAK2 gene in Jordanian patients with MPN.
  
  
  METHODS
  Both exons 12 and 14 of the JAK2 gene were amplified using polymerase chain reaction from DNA extracted from 68 blood and bone marrow samples belonging to 57 MPN patients and subjected to DNA sequencing.
  
  
  RESULTS
  JAK2(V617F) mutations were detected in 26 of 57 Jordanian patients (45%) with different MPNs. JAK2(V617F) was identified in 70%, 31%, and 14% of PV, ET, and IMF cases, respectively. Five men diagnosed with PV were homozygous for JAK2(V617F), whereas the other 21 patients were heterozygous for the mutation. Neither the JAK2(V617F) mutation nor any DNA polymorphism in exon 12 or exon 14 of the JAK2 gene was detected among the 40 leukemic patients. A rare single nucleotide polymorphism, c.1860C→T (rs375442615), was detected in one patient with ET.
  
  
  CONCLUSIONS
  This study is the first molecular investigation of the JAK2 gene in Jordan. We successfully identified the JAK2(V617F) mutation in Jordanian patients with Philadelphia chromosome-negative MPNs. Our results provide a basis for the early detection of this mutation and simplify the diagnostic workup for these disorders at the molecular level.
authors.affiliation: Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan. Electronic address: sjaradat@just.edu.jo.
authors.forename: Saied A
authors.initials: SA
authors.lastname: Jaradat
authors.affiliation: Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid 22110, Jordan.
authors.forename: Rawan
authors.initials: R
authors.lastname: Khasawneh
authors.affiliation: The Pathology Department, King Hussein Medical Center, Amman 11855, Jordan.
authors.forename: Nazmi
authors.initials: N
authors.lastname: Kamal
authors.affiliation: Department of Pathology and Laboratory Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.
authors.forename: Ismail
authors.initials: I
authors.lastname: Matalka
authors.affiliation: Department of Internal Medicine, Princess Basma Teaching Hospital, Irbid 22110, Jordan.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Bishtawi
authors.affiliation: Department of Pediatrics, Jordan University of Science and Technology, Irbid 22110, Jordan.
authors.forename: Suleiman
authors.initials: S
authors.lastname: Al-Sweedan
authors.affiliation: Department of Internal Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.
authors.forename: Mahmoud H
authors.initials: MH
authors.lastname: Ayesh
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D019046:Bone Marrow Neoplasms / Q000201:enzymology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007597:Jordan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000201:enzymology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: JAK2 mutations; Jordan; Myeloproliferative neoplasms; Polycythemia vera; V617F