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Janus kinase V617F mutation detection in patients with myelofibrosis Cover

Janus kinase V617F mutation detection in patients with myelofibrosis

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
By: D Nikolova,  A Yordanov,  V Damyanova,  A Radinov and  D Toncheva  
Open Access
|Aug 2019

Figures & Tables

Figure 1

Diagnosis distribution of 232 Bulgarian patients. Other diagnoses (seven individuals) include: four patients with myelodysplastic syndrome (MDS), one with thrombocytosis, one with multiple myeloma and one with osteopetrosis.
Diagnosis distribution of 232 Bulgarian patients. Other diagnoses (seven individuals) include: four patients with myelodysplastic syndrome (MDS), one with thrombocytosis, one with multiple myeloma and one with osteopetrosis.

Figure 2

Restriction fragment length polymorphism analysis of the JAK2 gene. BsaXI endonuclease was used to specifically cut the PCR product on 2.0% agarose gel. Lane 1: 50 bp ladder; lane 3: sample from patient with two mutant alleles (homozygous by the mutant allele); lane 5: sample from patient with wild type alleles (homozygous by the wild type allele); lanes 2, 4 and 6: samples from patients with a mixed pattern of both mutant and wild type alleles.
Restriction fragment length polymorphism analysis of the JAK2 gene. BsaXI endonuclease was used to specifically cut the PCR product on 2.0% agarose gel. Lane 1: 50 bp ladder; lane 3: sample from patient with two mutant alleles (homozygous by the mutant allele); lane 5: sample from patient with wild type alleles (homozygous by the wild type allele); lanes 2, 4 and 6: samples from patients with a mixed pattern of both mutant and wild type alleles.

Characteristics of patients with myelofibrosis (MF) confirmed by bone marrow biopsy_ Below are shown parameters for sex, age and the genotype status according to the JAK2 V617F mutation_

#YearSex-AgeGenotype Status V617F MutationDx
12015F-58NNMF
22105M-65MNMF
32016M-59MNMF
42016M-60NNMF
52016F-76MNMF
62016F-29MNMF
72017F-86NNMF
82017M-51NNMF
92017M-73MNMF
102017M-54MNMF
112017F-51NNMF
122017M-94MMMF
132017F-65MMMF
142018F-76MMMF
152018F-47NNMF
162018M-63MNMF
172018M-64NNMF
182018F-87NNMF
192018M-65MNMF
202018F-56MNMF
DOI: https://doi.org/10.2478/bjmg-2019-0007 | Journal eISSN: 2199-5761
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Language: English
Page range: 57 - 60
Published on: Aug 28, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
JAK2 (Janus kinase 2) V617F mutation,
Myelofibrosis (MF),
Myeloproliferative neoplasms (MPN)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 D Nikolova, A Yordanov, V Damyanova, A Radinov, D Toncheva, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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