Detection of the JAK2 V617F mutation by lightcycler PCR and prove dissociation analysis

Journal of Molecular Diagnostics

Volumn 8, Issue 3, 2006, Pages 330-334

  Lay, Marla ^a   Mariappan, Rajan ^a   Gotlib, Jason ^a   Dietz, Lisa ^a   Sebastian, Siby ^b   Schrijver, Iris ^a   Zehnder, James L ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; JANUS KINASE 2; PHENYLALANINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHRONIC MYELOID LEUKEMIA; CODON; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; EOSINOPHILIA; GENE AMPLIFICATION; HUMAN; HYPEREOSINOPHILIC SYNDROME; INTERMETHOD COMPARISON; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; MYELOID METAPLASIA; MYELOPROLIFERATIVE DISORDER; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; PROBE DISSOCIATION ANALYSIS; RELIABILITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; THROMBOCYTHEMIA; THROMBOCYTOSIS;

EID: 33746026365     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.050130     Document Type: Article

References (10)

1. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR: Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365:1054-1061
2. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C, Garcon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W: A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434:1144-1148
3. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC: A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005, 352:1779-1790
4. Levine RL, Loriaux M, Huntly BJ, Loh M, Beran M, Stoffregen E, Berger R, Clark JJ, Willis SG, Nguyen K, Flores N, Estey E, Gattermann N, Armstrong S, Look AT, Griffin JD, Bernard OA, Gilliland DG, Druker BJ, Deininger MW: The JAK2V617F activating mutation occurs in chronic myelomonocytic; leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 2005, 106:3377-3379
5. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel Sother, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG: Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005, 7:387-397
6. Tefferi A, Lasho TL, Gilliland G: JAK2 mutations in myeloproliferative disorders. N Engl J Med 2005, 353:1416-1417
7. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase A, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou E, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NCP: Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005, 106:2162-2168
8. Tefferi A, Sirhan S, Lasho TL, Schwager SM, Li CY, Dingli D, Wolanskyj AP, Steensma DP, Mesa R, Gilliland DG: Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol 2005, 131:166-171
9. Wolanskyj AP, Lasho TL, Schwager SM, McClure RF, Wadleigh M, Lee SJ, Gilliland DG, Tefferi A: JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005, 131:208-213
10. Tefferi A, Gilliland DG: The JAK2 (V617F) tyrosine kinase mutation in myeloproliferative disorders: status report and immediate implications for disease classification and diagnosis. Mayo Clin Proc 2005, 80:947-958