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ABSTRACT: Assessment of genetic risks related to effects of ionizing radiation on the human body remains a topical problem in medical genetics. Along with numerous data about the influence of radiation on chromosomes of man and model organisms, there are some facts suggesting possible aneugenic effect in addition to the well-known clastogenic influence generally recognized as a marker for biological dosimetry. The interest in genetic risks of aneuploidy is in the first place due to its gross mutagenic potential. Simultaneous changes in a large number of gene copies are regarded as an important contributing factor of malignant cell transformation and tumour growth. The role of aneuploidy in aging and multifactorial diseases is discussed and some data suggesting aneugenic effect of ionizing radiation are presented. The potential significance of aneuploidy for risk assessment of mutagenic factors is considered.
Vestnik Rossiĭskoĭ akademii meditsinskikh nauk / Rossiĭskaia akademiia meditsinskikh nauk 01/2011;
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ABSTRACT: Risks related to occupational exposure of humans to ionizing radiation remains a focus of attention. Of special importance is the poorly understood effect of ionizing radiation on the rate of numerical chromosome aberrations in human somatic cells. The purpose of this study was characterization of a radiation-induced increase in the rate of aneuploidy induced by incorporated plutonium-239 (239Pu) in somatic cells of chemonuclear industry workers. Significant differences in the chromosome 2, 7, 8, 12, and Y aneuploidy rate have been found between subjects with incorporated 239Pu and control subjects have been demonstrated. Chromosome nondisjunction has been found to be the main mechanism of aneuploidy induced by incorporated 239Pu.
Genetika 11/2010; 46(11):1565-70. · 0.44 Impact Factor
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ABSTRACT: Principles and approaches of assessment of numerical chromosome abnormalities in interphase nuclei by fluorescent in situ hybridization technology are reviewed. The authors' own scoring criteria of results of hybridization of centromere-specific DNA-probes with chromosomal targets in somatic cells by dual color FISH-analysis are suggested. Use of these scoring criteria allows to reduce the level of artificial hypoploidy, whose its frequency becomes similar to that of hyperploidy. This fact indicates that chromosomal nondisjunction is a major mechanism of aneuploidy induction, rather than of chromosome loss.
Tsitologiia 02/2005; 47(6):526-32.
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ABSTRACT: The frequency of spontaneous aneuploidy of the four autosomes and sex chromosomes in the interphase nuclei of cultivated and uncultured lymphocytes from clinically healthy men was examined by use of two-color fluorescent in situ hybridization (FISH). It was shown that in uncultured cells from the individuals examined autosomal nullosomies were practically not detected (the frequency 0 to 0.01%). At the same time, the frequency of such cells with either Y, or X nullosomy was at least an order of magnitude higher (about 0.15%). This frequency was comparable with the level of Y- or X-disomic cells, and also with autosomal monosomies, precluding from considering the X-nullosomic cells as hybridization artifacts. During lymphocyte cultivation, a statistically significant increase in the total frequency of Y- or X-nullosomic cells was observed already after the first cell division cycle. Thus, interphase FISH analysis is a sufficiently sensitive method enabling detection of higher, compared to the autosomes, loss of sex chromosomes in the process of cell division, a phenomenon observed during replicative cell aging, as well as during natural aging of the organism. Male cells with the de novo lost singular X chromosome, probably, switch to apoptosis and do not survive during further life of a cell population. The frequency of total aneuploidy in human somatic cells with the correction for the resolution capacity of the interphase FISH analysis constituted 5.62 and 6.90% for uncultured and cultivated cells, respectively. This aneuploidy level is close to that in spermatozoa. The data obtained can serve as the basis for the examination of the aneugenic (aneuploidy-inducing) genotoxic effects and for the analysis of interindividual genetic instability.
Genetika 03/2004; 40(2):195-204. · 0.44 Impact Factor
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ABSTRACT: The frequency of spontaneous X-chromosome hypo- and hyperploidy was studied in interphase nuclei of cultured and uncultured blood lymphocytes and oral epithelium of 21 healthy individuals by means of fluorescence in situ hybridization of the centromere-specific DNA probe. In women, the frequencies of haploid epithelial cells and cultured and uncultured lymphocytes were 0.84%, 1.59%, and 0.73%, respectively, while the frequency of hyperploid cells was 0.29%, 0.28%, and 0.12% respectively. In men, the X-chromosome spontaneous hyperploidy of epithelial cells, cultured and uncultured lymphocytes was 0.14%, 0.57%, and 0.11% respectively. The upper frequency limit of the spontaneous aneuploidy of various cell types was determined for the purpose of being used for the diagnosis of X-mono- and trisomy mosaicism in women and the disomy in men. In the latter, the frequency of hypoploidy in the cultured lymphocytes was significantly higher than in uncultured lymphocytes. Under conditions of intense cell proliferation in FHA-stimulated cultures, more severe disturbances in chromosome segregation are proposed to occur than in resting cells.
Genetika 11/1997; 33(10):1426-30. · 0.44 Impact Factor
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ABSTRACT: The analysis of plutonium production factors has been carried out by using two methodical approaches: assessment of chromosomal aberrations level in routine and G-banded metaphases and molecular-cytogenetic investigation of aneugenic/clastogenic damages in cytokinesis-block binuclear lymphocytes by FISH with centromere specific DNA probes. The obtaining data point out for the first time about both aneugenic and clastogenic influences of incorporated 239Pu with activity range from 0.37 to 6.95 kBq. Correlation analysis of chromosome aberrations with cytome abnormalities allowed finding significant connection between number parameters of metaphase and interphase approaches. The results of this study support the suggestion that aberrant chromosomes are involved preferable in aneugenic events. The FISH technique in binucleated cytokinesis-blocked lymphocytes allows extending of detecting spectrum of chromosome damages and glance of aneugenic mechanisms. Correlations between metaphase and interphase-FISH results point out a high sensitivity of FISH cytome assay, which could be used as an independent test for detection both clastogenic and aneugenic environment influences.
Radiatsionnaia biologiia, radioecologiia / Rossiĭskaia akademiia nauk 50(6):672-80.
