Journal of Human Genetics and Genomics

Published by: Kowsar
Crossmark

Study of the p.V617F and Exon 12 Mutations in JAK2 Gene Among Iranian Chronic Myeloproliferative Patients

Sara Khatamianfar 1 , Mohammad Taghi Akbari 2 , * , Shohre Zare Karizi 2 , 3 and Faravareh Khordadpoor Deilamani 2
Authors Information
1 Department of Biology, Science and Research Branch, Islamic Azad University, Sanandaj, Tehran, Iran
2 Medical Genetics Laboratory, Tehran, Iran
3 Department of Biology, Varamin Pishva Branch, Azad University, Pishva, Iran
Article information
  • Journal of Human Genetics and Genomics: June 30, 2019, 3 (1); e88293
  • Published Online: December 30, 2019
  • Article Type: Research Article
  • Received: December 26, 2018
  • Accepted: December 14, 2019
  • DOI: 10.5812/jhgg.88293

How to Cite: Khatamianfar S, Akbari M T, Zare Karizi S, Khordadpoor Deilamani F. Study of the p.V617F and Exon 12 Mutations in JAK2 Gene Among Iranian Chronic Myeloproliferative Patients, J Human Gen Genom. 2019 ; 3(1):e88293. doi: 10.5812/jhgg.88293.

Abstract
Copyright © 2019, Journal of Human Genetics and Genomics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Objectives
3. Methods
4. Results
5. Discussion
Acknowledgements
Footnotes
References
  • 1. Murugesan G, Aboudola S, Szpurka H, Verbic MA, Maciejewski JP, Tubbs RR, et al. Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes and melting curve analysis. Am J Clin Pathol. 2006;125(4):625-33. doi: 10.1309/TK0X-L917-XK2V-LRPQ. [PubMed: 16627272].
  • 2. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006;355(23):2452-66. doi: 10.1056/NEJMra063728. [PubMed: 17151367].
  • 3. Pagliarini-e-Silva S, Santos BC, Pereira EM, Ferreira ME, Baraldi EC, Sell AM, et al. Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population. Clinics (Sao Paulo). 2013;68(1):5-9. doi: 10.6061/clinics/2013(01)oa02. [PubMed: 23420150]. [PubMed Central: PMC3552438].
  • 4. Ghoreschi K, Laurence A, O'Shea JJ. Janus kinases in immune cell signaling. Immunol Rev. 2009;228(1):273-87. doi: 10.1111/j.1600-065X.2008.00754.x. [PubMed: 19290934]. [PubMed Central: PMC2782696].
  • 5. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-97. doi: 10.1016/j.ccr.2005.03.023. [PubMed: 15837627].
  • 6. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106(6):2162-8. doi: 10.1182/blood-2005-03-1320. [PubMed: 15920007].
  • 7. Ebid GT, Ghareeb M, Salaheldin O, Kamel MM. Prevalence of the frequency of JAK2 (V617F) mutation in different myeloproliferative disorders in Egyptian patients. Int J Clin Exp Pathol. 2015;8(9):11555-9. [PubMed: 26617890]. [PubMed Central: PMC4637706].
  • 8. Karimzadeh P, Ghaffari SH, Chahardouli B, Zaghal A, Einollahi N, Mousavi SA, et al. Evaluation of JAK2V617F mutation prevalence in myeloproliferative neoplasm by AS-RT-PCR. Iran J Pediatr Hematol Oncol. 2011;2(1).
  • 9. Scott LM. The JAK2 exon 12 mutations: A comprehensive review. Am J Hematol. 2011;86(8):668-76. doi: 10.1002/ajh.22063. [PubMed: 21674578].
  • 10. Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007;356(5):459-68. doi: 10.1056/NEJMoa065202. [PubMed: 17267906]. [PubMed Central: PMC2873834].
  • 11. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. [PubMed: 15781101].
  • 12. Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz SB, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005;280(24):22788-92. doi: 10.1074/jbc.C500138200. [PubMed: 15863514]. [PubMed Central: PMC1201515].
  • 13. Wolanskyj AP, Lasho TL, Schwager SM, McClure RF, Wadleigh M, Lee SJ, et al. JAK2 mutation in essential thrombocythaemia: Clinical associations and long-term prognostic relevance. Br J Haematol. 2005;131(2):208-13. doi: 10.1111/j.1365-2141.2005.05764.x. [PubMed: 16197451].
  • 14. Sestini R, Provenzano A, Bacci C, Orlando C, Genuardi M, Papi L. NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet Test. 2008;12(2):311-8. doi: 10.1089/gte.2007.0096. [PubMed: 18554169].
  • 15. Contini E, Paganini I, Sestini R, Candita L, Capone GL, Barbetti L, et al. A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene. PLoS One. 2015;10(6). e0129099. doi: 10.1371/journal.pone.0129099. [PubMed: 26066488]. [PubMed Central: PMC4466335].

Featured Image:

Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments