BsaXI/RFLP analysis of initial or selectively reamplified PCR product is unreliable in detecting the V617F mutation in JAK2

International Journal of Laboratory Hematology

Volumn 33, Issue 3, 2011, Pages 267-271

  Shepard, G C ^a   Lawson, H L ^a   Hawkins, G A ^a   Owen, J ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

Essential thrombocytosis; JAK2; P Vera; PCR; V617F

Indexed keywords

JANUS KINASE 2;

ARTICLE; CONTROLLED STUDY; FRACTIONATION; GENE AMPLIFICATION; GENE MUTATION; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 79954574129     PISSN: 17515521     EISSN: 1751553X     Source Type: Journal    
DOI: 10.1111/j.1751-553X.2010.01282.x     Document Type: Article

References (16)

1. Cankovic M., Whiteley L., Hawley R.C., Zarbo R.J. & Chitale D. (2009) Clinical performance of JAK2 V617F mutation detection assays in a molecular diagnostics laboratory: evaluation of screening and quantitation methods. American Journal of Clinical Pathology 132, 713-721.
2. Gowers D.M., Bellamy S.R. & Halford S.E. (2004) One recognition sequence, seven restriction enzymes, five reaction mechanisms. Nucleic Acids Research 32, 3469-3479.
3. Hengen P.N. (1995) Fidelity of DNA polymerases for PCR. Trends in Biochemical Sciences 20, 324-325.
4. Jones A.V., Kreil S., Zoi K., Waghorn K., Curtis C., Zhang L., Score J., Seear R., Chase A.J., Grand F.H., White H., Zoi C., Loukopoulos D., Terpos E., Vervessou E.C., Schultheis B., Emig M., Ernst T., Lengfelder E., Hehlmann R., Hochhaus A., Oscier D., Silver R.T., Reiter A. & Cross N.C. (2005) Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106, 2162-2168.
5. Keohavong P. & Thilly W.G. (1989) Fidelity of DNA polymerases in DNA amplification. Proceedings of the National Academy of Sciences of the United States of America 86, 9253-9257.
6. Kralovics R., Passamonti F., Buser A.S., Teo S.S., Tiedt R., Passweg J.R., Tichelli A., Cazzola M. & Skoda R.C. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. The New England Journal Of Medicine 352, 1779-1790.
7. Kroger N., Badbaran A., Holler E., Hahn J., Kobbe G., Bornhauser M., Reiter A., Zabelina T., Zander A.R. & Fehse B. (2007) Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood 109, 1316-1321.
8. Le Bars H., Boulland M.L., Bareau B., Grosbois B., Corolleur M., Lamy T. & Fardel O. (2010) Comparison of JAK2 V617F burden quantitation by two different quantitative-polymerase chain reaction methods. International Journal of Laboratory Hematology 32, 458-460.
9. Marshall J.J. & Halford S.E. (2010) The type IIB restriction endonucleases. Biochemical Society Transactions 38, 410-416.
10. Ochsenreither S., Reinwald M., Thiel E. & Burmeister T. (2010) Melting Point Assay for the JAK2 V617F Mutation, Comparison with Amplification Refractory Mutation System (ARMS) in Diagnostic Samples, and Implications for Daily Routine. Molecular Diagnosis & Therapy 14, 185-190.
11. Paradis F.W., Simard R. & Gaudet D. (2010) Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology. BMC Medical Genetics 11, 54.
12. Shammaa D., Bazarbachi A., Halas H., Greige L. & Mahfouz R. (2010) JAK2 V617F mutation detection: laboratory comparison of two kits using RFLP and qPCR. Genetic Testing and Molecular Biomarkers 14, 13-15.
13. Tefferi A., Skoda R. & Vardiman J.W. (2009) Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. Nature Reviews. Clinical Oncology 6, 627-637.
14. Tindall K.R. & Kunkel T.A. (1988) Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase. Biochemistry 27, 6008-6013.
15. Trifa A.P., Cucuianu A. & Popp R.A. (2010) Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2(V617F). Acta Haematologica 123, 84-87.
16. Ugo V., Tondeur S., Menot M.L., Bonnin N., Le G.G., Tonetti C., Mansat-De M.V., Lecucq L., Kiladjian J.J., Chomienne C., Dosquet C., Parquet N., Darnige L., Porneuf M., Escoffre-Barbe M., Giraudier S., Delabesse E. & Cassinat B. (2010) Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients. PLoS One 5, e8893.