Related Experiment Video
Updated: Feb 11, 2026
18:10
Isolation of Fidelity Variants of RNA Viruses and Characterization of Virus Mutation Frequency
Published on: June 16, 2011
30.1K
Jak-2 mutation frequency in patients with thrombocytosis
1Department of HematologyMinistry of Health İstanbul Training and Research Hospitalstanbul, Turkey.
Caspian Journal of Internal Medicine
|May 8, 2018
Summary
Janus kinase 2 (JAK2) mutations are present in 42% of adults with thrombocytosis. This finding aids in diagnosing essential thrombocytosis and other myeloproliferative neoplasms.
Area of Science:
- Hematology
- Oncology
Background:
- Investigating etiological causes of thrombocytosis.
- Determining the presence of Janus kinase 2 (JAK2) mutations in thrombocytosis cases.
Purpose of the Study:
- To investigate the etiologic causes of thrombocytosis.
- To identify the prevalence of JAK2 mutations in patients with thrombocytosis.
Main Methods:
- Retrospective study of 136 patients with thrombocytosis admitted to a hematology clinic (2013-2015).
- JAK2 mutation analysis performed on patients with a preliminary diagnosis of essential thrombocytosis (ET).
Main Results:
- JAK2 mutation was positive in 58 (42%) of the 136 evaluated cases.
- Mean patient age was 56.7 years; 52% were male.
- Mean platelet count was 860.25×10^9 /L; mean spleen length was 135.1 mm.
Conclusions:
- JAK2 mutation analysis and bone marrow biopsy are key for diagnosing primary thrombocytosis in adults after excluding secondary causes.
- Myeloproliferative neoplasms and essential thrombocytosis are common causes of primary thrombocytosis.
- Myelodysplastic syndrome is a rare cause of primary thrombocytosis.
Related Concept Videos
01:39Mutations
94.6K
Overview
94.6K
01:35Mutations
44.6K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.6K
01:09Mutation, Gene Flow, and Genetic Drift
64.6K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.6K
00:36Viral Mutations
40.0K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
40.0K
01:20The JAK-STAT Signaling Pathway
12.7K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...
12.7K
01:21Frequency-dependent Selection
24.2K
When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.
24.2K