Related Experiment Video

Updated: Nov 24, 2025

Detection of Inter-chromosomal Stable Aberrations by Multiple Fluorescence In Situ Hybridization mFISH and Spectral Karyotyping SKY in Irradiated Mice
10:14

Detection of Inter-chromosomal Stable Aberrations by Multiple Fluorescence In Situ Hybridization mFISH and Spectral Karyotyping SKY in Irradiated Mice

Published on: January 11, 2017

10.2K

MOLECULAR GENETIC ABNORMALITIES IN THE GENOME OF PATIENTS WITH Ph-NEGATIVE MYELOPROLIFERATIVE NEOPLASIA AFFECTED BY

L O Poluben1, L V Neumerzhytska1, S V Klymenko1

  • 1State Institution «National Research Center for Radiation Medicine of the National Academy of Medical Sciences of Ukraine», 53 Yuriia Illienka St., Kyiv, 04050, Ukraine.

Problemy Radiatsiinoi Medytsyny Ta Radiobiolohii
|December 28, 2020
PubMed
Abstract

Insights

Radiation exposure from the Chornobyl accident altered JAK2, CALR, and MPL gene mutation frequencies in myeloproliferative neoplasm (MPN) patients. These findings highlight radiation

Area of Science:

  • Hematology
  • Oncology
  • Radiation Biology

Background:

  • Ph-negative myeloproliferative neoplasms (MPN) are a group of blood cancers.
  • Ionizing radiation exposure, such as from the Chornobyl accident, is a known risk factor for various cancers.
  • Understanding the molecular basis of MPN in radiation-exposed individuals is crucial.

Purpose of the Study:

  • To investigate the frequency of major somatic mutations in JAK2, MPL, and CALR genes.
  • To compare mutation frequencies in patients with Ph-negative MPN with and without a history of Chornobyl-related radiation exposure.

Main Methods:

  • Genomic DNA was analyzed from 90 radiation-exposed MPN patients and 191 non-exposed MPN patients.
  • Allele-specific polymerase chain reaction (PCR) was used to detect mutations in JAK2, MPL, and CALR genes.
  • Statistical analysis was performed to compare mutation frequencies between the two groups.

Main Results:

  • JAK2 mutations were found in 58.9% of exposed patients vs. 75.4% of non-exposed patients.
  • CALR mutations were more frequent in exposed patients (12.2%) compared to non-exposed (3.1%), primarily in essential thrombocythemia and primary myelofibrosis.
  • MPL mutations were rare, observed only in non-exposed patients (1.6%). Triple-negative status was more prevalent in the exposed group (27.8% vs. 16.2%).

Conclusions:

  • Genomic analysis reveals distinct molecular genetic damage patterns in Chornobyl-exposed MPN patients compared to spontaneous MPN.
  • Determining the mutational status of JAK2, MPL, and CALR is essential for understanding radiation-induced leukemogenesis.
  • These findings contribute to the understanding of molecular mechanisms underlying MPN development following radiation exposure.
Keywords:
JAK2 V617FMPL and CALRessential thrombocythemiaionizing radiationmyeloproliferative neoplasiapolycythemia veraprimary myelofibrosis

More Related Videos

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells11:06

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

13.3K
Chromosome Preparation From Cultured Cells07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

83.2K

Related Concept Videos

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
4.5K
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
39.8K
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.8K
Mutations01:35

Mutations

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...
42.0K
Mutations01:39

Mutations

Overview
92.0K
Other Unique Bacteria01:18

Other Unique Bacteria

Magnetic bacteria exhibit a directed movement called magnetotaxis, driven by structures called magnetosomes. These magnetosomes consist of chains of magnetic particles made of either magnetite (Fe₃O₄) or greigite (Fe₃S₄) and are organized in a linear conformation by a protein scaffold within invaginations of the cell membrane. The bacteria align along the north–south magnetic field lines, much like a compass needle. They are typically microaerophilic or anaerobic...
246