• The sensitivity, accuracy and feasibility of application of SCE as an in vitro screening test has been evaluated against cytogenetic aberrations and the Ames test. (soton.ac.uk)
  • In recent years, in vitro studies have highlighted the complexity of chromosome aberrations induced by α-irradiation. (radioprotection.org)
  • Lymphocytes in their first in vitro division following exposure to 213Bi α-particles were analysed by sFISH and genomic aberration frequencies derived. (radioprotection.org)
  • Since nuclear swelling (NS hereafter) has been frequently observed in chromosomal aberration (CA hereafter) tests (in vitro), the relationship between NS and CAs was investigated in this study. (biomedcentral.com)
  • An in vitro mammalian chromosome aberration test was performed with the test substance in Chinese hamster V79 cells according to OECD guideline 473 and in compliance with GLP (Oppong-Nketiah, 2012). (europa.eu)
  • A method is proposed to allow quantitative estimates to be made of mutation frequency.The induction of SCE and cytogenetic aberrations in human lymphocytes and point-mutation in Salmonella has been investigated following exposure to a range of selected direct-acting chemical mutagens. (soton.ac.uk)
  • The Clinical Associations Searcher searches studies pertaining to clinical associations of cytogenetic aberrations and/or gene rearrangements. (isb-cgc.org)
  • The Database of Chromosome Aberrations and Gene Fusions in Cancer, established in 1980, is an attempt to register systematically all published cytogenetic aberrations reported in cancer, including patient and tumor characteristics, gene fusions identified by cytogenetics or massively parallel sequencing, and studies pertaining to the clinical relevance of cytogenetic aberrations and/or gene rearrangements. (lu.se)
  • The database represents a unique international resource that enables clinicians to quickly find relevant information on cytogenetic aberrations and gene fusions in cancer and relate the findings to clinical data, in particular the diagnostic and prognostic significance of specific cytogenetic/genomic changes. (lu.se)
  • For high LET irradiation, such as that from internally deposited α-emitting radionuclides, the relationship between chromosome aberration frequencies in blood lymphocytes and dose is more difficult to establish. (radioprotection.org)
  • Chromosome Aberrations in Peripheral Lymphocytes of College Students as a Response to Photochemical Air Pollution. (epa.gov)
  • Chromosome aberrations in lymphocytes of workers exposed to styrene. (sjweh.fi)
  • The continuously updated material also makes it possible to address scientific questions related to the mechanisms through which chromosomal/genomic changes participate in the carcinogenic process by elucidating why, how and when chromosome abnormalities are formed, the chromosomal anatomy of cytogenetic changes and genes involved in fusions, the role chromosome aberrations play in the formation of fusion genes, and the mechanisms by which gene fusions exert their effects. (lu.se)
  • The results demonstrated that methylation abnormalities of multiple imprinted loci occurred in 35% of the cases, but that they were associated with either chromosome aberrations or normal chromosome profiles. (sequentiabiotech.com)
  • The positive controls showed the expected increase in the rate of chromosome aberrations, thus indicating the sensitivity of the assay. (europa.eu)
  • Blood samples were collected and processed for a dicentric chromosome assay. (springer.com)
  • Cell stability status was established by analysing the whole genome for unstable aberrations. (radioprotection.org)
  • The whole genome was analyzed for unstable aberrations to derive aberration frequencies and determine cell stability. (bioone.org)
  • High hyperdiploid acute lymphoblastic leukemia (HeH ALL), one of the most common childhood malignancies, is driven by nonrandom aneuploidy (abnormal chromosome numbers) mainly comprising chromosomal gains. (lu.se)
  • Hematological disorders are typically associated with hematopoietic stem cells mutations and chromosomal aberrations such as aneuploidy or euploidy ( Zagozdzon and Golab, 2015 ZAGOZDZON, R. and GOLAB, J., 2015. (scielo.br)
  • It was first published in 1983 as a book named "Catalog of Chromosome aberrations in Cancer" in the Journal of Cytogenetics and Cell Genetics, containing 3,844 cases. (wikipedia.org)
  • The database is available on-line (https://mitelmandatabase.isb-cgc.org) for searches related to cases cytogenetics, gene fusions, clinical associations, structural or numerical recurrent aberrations and references. (wikipedia.org)
  • The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor characteristics, based either on individual cases or associations. (wikipedia.org)
  • Mitelman F, Johansson B, Mertens F, Schyman T, Mandahl N. Cancer chromosome breakpoints cluster in gene-rich genomic regions. (lu.se)
  • These data demonstrate the presence of cells in irrigation specimens with specific genomic lesions of chromosome 9 and DNA content. (johnshopkins.edu)
  • A healthy genome is characterized by 23 pairs of chromosomes, and even a small change in this structure - such as an extra copy of a single chromosome - can lead to severe physical impairment. (world.edu)
  • Albert Levan, a researcher at Lund University, was the first to establish how many chromosomes there are in the human genome. (lu.se)
  • ORCID: https://orcid.org/0000-0001-7042-0308 , Eder, C , Muller, I , Figel, M and Zitzelsberger, H (2005) SKY and FISH analysis of radiation-induced chromosome aberrations: A comparison of whole and partial genome analysis. (yorksj.ac.uk)
  • Results: Sensitivity of chromosome 9 FISH was 42% for all tumors and was not correlated to transitional cell carcinoma tumor grade, while the sensitivity of DNA cytometry was 55% and improved with increasing grade from 38% for grade 1 to 90% for grade 3 tumors. (johnshopkins.edu)
  • A study carried out at a pilot plant for drinking water disinfection of lake water revealed mutagenic activity of three different disinfectants (sodium hypochlorite, chlorine dioxide and peracetic acid) in different seasons using in situ mutagenicity assays, both in animal (micronucleus test) and in plant organisms (anaphase chromosomal aberration and micronucleus tests). (scirp.org)
  • Therefore plants ( Allium cepa for chromosomal aberration test and Vicia faba for micronucleus test) were exposed to the same disinfected lake-water samples at different temperatures (10℃, 20℃ and 30℃), according the ones registered during the in situ experiment. (scirp.org)
  • Most carcinogens that cause NS are genotoxins, which cause DNA damage, chromosomal aberrations (CAs), and micronucleus formation. (biomedcentral.com)
  • The Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer is a free access database devoted to chromosomes, genes, and cancer. (wikipedia.org)
  • Genes Chromosomes Cancer 58:149-154, 2019. (lu.se)
  • Genes Chromosomes Cancer 55:291-310, 2016. (lu.se)
  • When chromosome profiles were affected, these alterations were extended to flanking cancer driver genes. (sequentiabiotech.com)
  • Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. (medlineplus.gov)
  • Chromosome aberration frequencies were determined by scoring fragments and translocations using premature chromosome condensation. (nih.gov)
  • Retrospective biodosimetry based on frequencies of chromosome translocations is well established for exposure to low LET radiation and has proved a valuable tool for validating doses in epidemiological studies. (radioprotection.org)
  • Therefore, the quantification of chromosome biomarkers of α-irradiation must take into account the distribution and transmissibility of the different aberration types if it is to provide information that is relevant to the interpretation of in vivo frequencies. (radioprotection.org)
  • Patterns of chromosome abnormality: The key to cancer? (world.edu)
  • Objectives: To determine the sensitivity and specificity of combining fluorescence in situ hybridization (FISH) measurement of chromosome 9 and DNA cytometry of bladder irrigation specimens in the detection of bladder cancer. (johnshopkins.edu)
  • DNA double strand breaks (DSB), chromosome aberrations and cell reproductive inactivation. (nih.gov)
  • Our results show that, although both investigated radiation types induce similar numbers of IRIF per absorbed dose, only a small fraction of the DSB induced by the low-LET gamma-rays result in chromosome rearrangements and cell reproductive death, while this fraction is considerably enhanced for the high-LET alpha-radiation. (nih.gov)
  • This work has failed to demonstrate a unique chromosome biomarker which would discriminate between different qualities of radiation in workers with historical exposures but has confirmed that stable cells with a single translocation do arise in significant numbers in a dose dependent fashion following α-particle irradiation. (radioprotection.org)
  • A clear and dose-dependent (5.5 and 7.5%, respectively) increase in the rate of chromosomal aberrations compared to negative control was observed at test concentrations of 2000 and 3000 µg/plate without S9 mix. (europa.eu)
  • He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)
  • The profile of chromosome damage induced by α-particle irradiation was examined using sFISH and mBAND. (radioprotection.org)
  • We screened gastrula embryos for DNA synthesis, nuclear morphology, growth, and chromosome aberrations (CA) shortly after irradiation with doses up to 2.5 Gy. (sckcen.be)
  • These assays can detect mutations in the Tk gene that result from both gene mutations and chromosome damage. (biomedcentral.com)
  • Exchanges involving aberrant chromosomes 5 were classed as inter- or intrachanges and further classified into simple and complex. (radioprotection.org)
  • The proportion of aberrant FISH cells with complex/multiple aberrations ranged from 56% at 10 mGy to 89% at 500 mGy. (bioone.org)
  • To evaluate relationships between DNA-DSB, chromosome aberrations and the clinically most relevant effect of cell reproductive death, for ionizing radiations of different LET, dose-effect relationships were determined for the induction of these effects in cultured SW-1573 cells irradiated with gamma-rays from a Cs-137 source or with α-particles from an Am-241 source. (nih.gov)
  • Furthermore, the RBE values for the induction of the two types of chromosome aberrations are similar to those established for cell reproductive death. (nih.gov)
  • Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • Chromosome analysis was performed on 47-h cultures using single-color fluorescence in situ hybridization (FISH) to paint chromosomes 1, 3 and 5. (bioone.org)
  • Calculated RBE values derived for the linear components of dose-effect relations for gamma-H2AX foci, cell reproductive death, chromosome fragments and colour junctions are 1.0 ± 0.3, 14.7 ± 5.1, 15.3 ± 5.9 and 13.3 ± 6.0 respectively. (nih.gov)
  • Consequently, a new freely available computer program for fitting a linear-quadratic dose-response relationship by the method of maximum-likelihood and estimating a dose from the number of aberrations observed has been developed by the authors. (europa.eu)
  • A more detailed analysis revealed that the majority of aberrations scored as dicentrics were part of complex/multiple aberrations, with the proportion of cells containing complexes increasing with dose. (bioone.org)
  • Aided by the rediscovery at the start of the 1900s of Gregor Mendel 's earlier work, Boveri was able to point out the connection between the rules of inheritance and the behaviour of the chromosomes. (wikipedia.org)
  • Wilhelm Roux suggested that each chromosome carries a different genetic configuration , and Boveri was able to test and confirm this hypothesis. (wikipedia.org)
  • Combining FISH on chromosome 9 and DNA cytometry provides an in sensitivity to transitional cell carcinoma over either test alone. (johnshopkins.edu)
  • Based on the data on cytotoxicity, concentrations of 1000, 2000, 3000 and 4000 µg/mL in the presence of metabolic activation (S9 mix) and concentrations of 2500, 3750 and 5000 µg/mL in the absence of metabolic activation were used to analyse chromosomal aberrations after exposure to the test substance. (europa.eu)
  • Cells containing aberrations involving painted chromosomes (FISH aberrations) were further classified according to cell stability and complexity. (bioone.org)
  • Cytogenetic analysis has revealed the presence of chromosomal aberrations of importance in the patient prognosis. (edu.pe)
  • Translocation was the most prevalent 50 (25%), followed by hypotriploidy 14 (7%) and monosomy 8 (4%) on chromosome aberration analysis. (scielo.br)
  • As a consequence of this flexibility, the scheme upon which the nomenclature is based differs substantially from other systems of aberration classification We call this system the Protocol for Aberration Identification and Nomenclature Terminology (PAINT). (utmb.edu)
  • Multiple imprinted methylation alterations dictated by chromosome copy-number variations have been recently demonstrated in adult cancers, raising the question of whether multiple imprinted loci were also affected in WT. (sequentiabiotech.com)
  • Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)
  • However, the majority of cells with complex aberrations will be unstable and will not undergo cell division to give viable descendant cells. (radioprotection.org)
  • [1] [2] These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation . (wikipedia.org)
  • The cell harbors a complex aberration involving several chromosomes (red circle). (gsi.de)
  • Chromosome 9 copy number was determined on a cellular basis by FISH, and cellular DNA content was determined by Feulgen DNA staining and image cytometry. (johnshopkins.edu)
  • The majority of cells with FISH aberrations were unstable. (bioone.org)
  • The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)
  • Conclusions: The lack of increase with grade in the percentage of positive specimens by FISH supports the hypothesis that chromosome 9 aberrations are critical events in bladder tumorigenesis for many patients. (johnshopkins.edu)