[Chromosomal aberrations and chromosomal lag in human cells in vivo and in vitro].
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Chromosome Aberrations↗
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Chromosomal aberrations and chromosomal polymorphism in families with reproductive failure.
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Abnormalities, Multiple↗
[Single-strand DNA breaks and chromosome aberrations in the hepatocytes of mice of different ages].
The same damages were found to occur in hepatocyte DNA from old mice of different strains by means of sedimentation in alkaline sucrose concentration gradient. At the same time, the number of hepatocytes with aberrant chromosomes is strongly different in these strains. From these data an assumption is made that some other damages being accumulated with aging are responsible for chromosome aberrations except for single-strand DNA breaks. The number of single-strand breaks registered in hepatocyte DNA of the old animals under gamma-irradiation is two-three times more than that of the young animals, though the rates of repair of the induced single-strand breaks in DNA are the same for mice of different age and strains.
Aging↗
Chromosomal aberrations detected by chromosome painting in lymphocytes from cancer patients given high doses of therapeutic X-rays.
Chromosome painting by fluorescence in situ hybridization (FISH) with a whole chromosome-specific DNA probe was used to detect chromosomal aberrations in lymphocytes from cancer patients given partial-body fractionated X-ray therapy. Six male patients with cancer of the stomach, prostate, lung, or hepatocellular carcinoma, received X-rays in total doses of 40.5 to 70.08 Gy. Lymphocytes were cultured for 50 h with phytohemagglutinin. The mean frequency of aberrant cells detected by chromosome 4 painting varied from 1.57% to 14.34% in the patients and was markedly higher than in healthy controls (mean = 0.12%). Chromosome painting effectively detected chromosomal aberrations in lymphocytes from cancer patients. Equivalent biological doses extrapolated from a dose-response curve obtained in an in vitro human lymphocyte X-ray irradiation study are discussed as an indicator of the cytogenetic damage inducible by radiotherapy in cancer patients.
Adult↗
Experimentally induced chromosome aberrations in plants. I. The production of chromosome aberrations by cyanide and other heavy metal complexing agents.
The finding of Lilly and Thoday that potassium cyanide produces structural chromosome changes in root tips of Vicia faba was confirmed. Like mustards, diepoxides, and maleic hydrazide, potassium cyanide seems to act on cells at early interphase. A tendency of cyanide breaks to be concentrated in heterochromatic segments of the chromosomes was evident. The production of chromosome aberrations by cyanide proved to be practically unaffected by the temperature during treatment. In agreement with Lilly and Thoday, the effect of potassium cyanide was found to be dependent on oxygen tension during treatment. The effect of potassium cyanide increases with increasing oxygen concentration up to 100 per cent oxygen. In the absence of oxygen, potassium cyanide was not completely inactive, but produced a low, though significant frequency of aberrations. Pretreatments with 2.4-dinitrophenol did not influence the effect of potassium cyanide. When bean roots were treated with potassium cyanide before a treatment with 8-ethoxycaffeine, or at the same time as they were treated with 8-ethoxycaffeine, the effect of 8-ethoxycaffeine was almost completely suppressed. The effects of a number of other heavy metal complexing agents were also tested. Sodium fluoride, potassium thiocyanate, carbon monoxide, o-phenanthroline, 2.2-bipyridine, and sodium azide were without radiomimetic effect under the conditions employed, and so was a mixture of sodium azide and sodium fluoride. A low, but quite significant, radiomimetic effect was obtained after treatments with sodium diethyldithiocarbamate, cupferron, and 8-hydroxyquinoline. Under anaerobic conditions, the effects of cyanide and cupferron were both quantitatively and qualitatively indistinguishable. Unlike the effect of cyanide, the effect of cupferron was not enhanced by the presence of oxygen. The effects of the same heavy metal complexing agents were tested on the activities of the enzymes catalase and peroxidase. The activities of both of these enzymes were found to be totally inhibited only by potassium cyanide. In the other cases, little correlation was found between ability to inhibit the activities of these enzymes and ability to produce chromosome aberrations. In a number of experiments, hydrogen peroxide was found to be without radiomimetic effect, whether alone or in combination with potassium cyanide. t-Butyl hydroperoxide proved to be active. The effect of t-butyl hydroperoxide was substantially increased by pretreatments with 2.4.-dinitrophenol. The results are discussed, and it is concluded that the observations made do not support the hypothesis that hydrogen peroxide is involved in the production of chromosome aberrations by potassium cyanide. The possibility that organic peroxides are involved cannot be excluded on the bases of the experimental results. As an alternative hypothesis, it is suggested that iron or other heavy metals are present in the chromosomes and that cyanide and other heavy metal complexing agents produce chromosome aberrations by reacting with these metals.
Caffeine↗
[DNA repair capacity, chromosome aberration rate and chromosome fragile sites among members of 7 cancer families].
A nucleoid sedimentation technique was developed and used for analysis of DNA repair capacity in 40 members from 7 cancer families. Chromosome aberration rate (CAR) and chromosome fragile sites (CFS) were assayed simultaneously for comparison. It was shown that 32 members (80%) had a decreased DNA repair capacity and 34 (85%) had increased CAR as well as an apparent increase of CFS. 28 members (70%) showed both decreases of DNA repair capacity and increases of CAR. The importance of these criteria in heritable susceptibility to cancer is discussed.
Adult↗
Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation.
BACKGROUND: The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. RESULTS: We developed a simplified computer readable cytogenetic notation (SCCN) by which chromosome findings are normalised at a resolution of 400 bands. Lost or gained chromosomes or chromosome segments are specified in detail, and ranges of chromosome breakpoint assignments are recorded. Software modules were written to summarise the recorded chromosome changes with regard to the respective chromosome involvement. To assess the degree of karyotype alterations the ploidy levels and numbers of numerical and structural changes were recorded separately, and summarised in a complex karyotype aberration score (CKAS). The SCCN and CKAS were used to analyse the extend and the spectrum of additional chromosome aberrations in 94 patients with Philadelphia chromosome positive (Ph-positive) acute lymphoblastic leukemia (ALL) and secondary chromosome anomalies. Dosage changes of chromosomal material represented 92.1% of all additional events. Recurring regions of chromosome losses were identified. Structural rearrangements affecting (peri)centromeric chromosome regions were recorded in 24.6% of the cases. CONCLUSIONS: SCCN and CKAS provide unifying elements between karyotypes and computer processable data formats. They proved to be useful in the investigation of additional chromosome aberrations in Ph-positive ALL, and may represent a step towards full automation of the analysis of large and complex karyotype databases.
Adolescent↗
Comparison of dose-response curves for chromosomal aberrations established by chromosome painting and conventional analysis.
PURPOSE: To establish 60Co gamma-ray dose-response curves for dicentrics and translocations visualized by chromosome painting and for dicentrics analysed after conventional solid staining. MATERIALS AND METHODS: Analysis of chromosomal aberrations was performed on peripheral blood lymphocytes obtained from 48 h old cultures of irradiated whole blood. Dicentrics were scored from Giemsa-stained preparations, and bi-coloured dicentrics and translocations after FISH painting of chromosomes 1, 2 and 4. RESULTS: Equal frequencies of complete dicentrics and translocations, where both members of the exchanges were seen, were observed in the chromosome painting analysis at all doses, resulting in similar calibration curves. Due to differences in scoring criteria, dicentrics scored in conventionally Giemsa-stained slides agreed better with data for total than for complete exchanges. Donor differences for translocations at the control level and at low doses were seen and large uncertainty surrounds the linear component of the dose-response for total translocations. CONCLUSIONS: Dose reconstruction of past exposures in cases of low doses is very dependent on the linear coefficient of the curve. Results indicate that total translocations would give less reliable dose estimates and therefore complete translocations are preferred.
Adult↗
2-methoxyestradiol induces spindle aberrations, chromosome congression failure, and nondisjunction in mouse oocytes.
2-Methoxyestradiol (2-ME) is a metabolite of 17beta-estradiol and a natural component of follicular fluid. Local concentrations of 2-ME may be increased by exposure to environmental pollutants that activate the expression of enzymes in the metabolic pathway from 17beta-estradiol to 2-ME. It has been suspected that this may have adverse effects on spindle formation in maturing oocytes, which would affect embryo quality. To study the dose-response patterns, we exposed denuded mouse oocytes to 2-ME during in vitro maturation. Meiotic progression, spindle morphology, centrosome integrity, and chromosome congression were examined by immunofluorescence and noninvasive polarizing microscopy (PolScope). Chromosomal constituents were assessed after spreading and C-banding. 2-ME sustained MAD2L1 expression at the centromeres and increased the number of meiosis I-blocked oocytes in a dose-dependent manner. 2-ME also caused dramatic dose-dependent increases in the hyperploidy of metaphase II oocytes. Some of these meiosis II oocytes contained anaphase I-like chromosomes, which suggests that high concentrations of the catecholestradiol interfere with the physical separation of chromosomes. Noninvasive PolScope analysis and tubulin immunofluorescence revealed that perturbations in spindle organization, which resulted in severe disturbances of the chromosome alignment at the spindle equator (congression failure), were caused by 2-ME at meiosis I and II. Pericentrin-positive centrosomes failed to align at the spindle poles, and multipolar spindles and prominent arrays of cytoplasmic microtubule asters were induced in 2-ME-exposed metaphase II oocytes. In conclusion, a micromolar level of 2-ME is aneugenic for mammalian oocytes. Therefore, exposure to 2-ME and conditions that increase the intrinsic local concentration of 2-ME in the ovary may affect fertility and increase risks for chromosomal aberrations in the oocyte and embryo.
2-Methoxyestradiol↗
Power law distribution of chromosome aberrations in cancer.
Cancer cells are characterized by having aberrant chromosomes. The number of aberrations and the specific chromosomes affected are correlated with tumor progression. We show that for breast, colorectal, and renal cell carcinomas the distribution of the number of such aberrations per tumor follow a power law distribution with an exponent close to unity. We present two stochastic models that in simulation experiments result in power law distributions of the number of changes per tumor. The first model is based on a multiplicative fluctuation process and the second on a preferential attachment principle linked to an observation process, i.e., a tumor detection and treatment process. Because almost identical power law distributions are seen in breast, colorectal, and renal cell carcinomas we suggest that the obtained distributions are consequences of a common mechanism operating in malignant epithelial tumors.
Breast Neoplasms↗
Studies on radiation-induced chromosome aberrations in mouse spermatocytes. II. Dose-response relationships of chromosome aberrations induced at zygotene stage in mouse primary spermatocytes following fast neutron- and 60Co gamma-irradiations.
The chromosome aberrations induced at zygotene stage in mouse spermatocytes following exposures to fast neutrons and 60Co gamma-rays were examined at diakinesis-metaphase I. The dose-response relationships were well fitted to linear equation for deletion-type aberrations and to linear-quadratic equation for exchange-type aberrations in 60Co gamma-irradiation group. In fast neutron-irradiation group, the dose-response relationships were well fitted to linear equations for deletion- and exchange-type aberrations. The rate of deletion-type aberrations was remarkably high for fast neutrons, about 6 times higher than that after 60Co gamma-irradiation. The main types of chromosome aberrations observed were iso-chromatid breaks or fragments and chromatid exchanges in both irradiation groups as well as X-irradiation. These results indicate that there is a possibility that two double-strand breaks are induced simultaneously at iso-locus position in sister chromatids by a single track of radiations. Production of such single-track-induced two double-strand breaks in iso-chromatids may be very frequently expressed as iso-chromatid-type deletions in the high LET fast neutron-irradiation group. On the contrary, in the low LET 60Co gamma- or X-irradiation group, the above-mentioned mechanism may not be so effective for contribution to chromosome aberration induction in mouse spermatocytes. This mechanism was discussed in detail.
Animals↗
[Relation of sex and age to frequency of spontaneous chromosome aberrations in human peripheral blood lymphocytes. I. Age dynamics of the frequency of spontaneous chromosome aberrations and aberrant cells in peripheral blood lymphocytes].
Spontaneous frequency of chromosome aberrations in 680 individuals of both sex (from newborns to centenariants) has been studied. The age dependence of the frequency of chromosome aberrations has been revealed. The distribution of individuals according to the frequency of their chromosome aberrations corresponds to the Poisson's law. The analysis of the age dynamics of the frequency of chromosome aberrations made it possible to define three age periods. The first period involves the newborns with a high level of chromosome aberrations; the second period--individuals at the age of 1 to 20 years with the lowest level of aberrations; and the third one--individuals over 30 years old with continuous increase in the spontaneous frequency of chromosome aberrations with the age.
Adolescent↗
Reverse painting highlights the origin of chromosome aberrations.
Reverse chromosome painting, as the opposite of forward chromosome painting, means that an abnormal chromosome of interest is recovered by flow sorting or by chromosome microdissection, amplified and labelled by DOP-PCR and hybridized onto normal metaphases of optimal quality. This provides rapid and unequivocal information about the chromosomal origin on the aberrant chromosome in one hybridization. Not only will the specific chromosome(s) involved be identified, but also the subchromosomal origin, including the breakpoints. The method has been used for over 10 years and has proven to be very useful for resolving complex chromosome rearrangements in a variety of different applications, both as a research tool and for clinical purposes in pre- and postnatal diagnosis.
Chromosome Aberrations↗
Sister chromatid exchanges, chromosome aberrations and micronuclei in female lymphocytes: correlations with biological rhythms, miscarriages and contraceptive pill use.
Our study looked at the variation in peripheral blood lymphocytes, during the menstrual cycle, of frequencies of sister chromatid exchanges (SCE) and micronuclei (MN) in 819 women and cells with aberrant chromosomes (CA) in a selected sample of 136 volunteers. We observed significant fluctuations in SCE and CA frequencies: SCEs reached a maximum value at the end of menstruation and a low at the time of ovulation, whereas CAs showed a continuous increase from the beginning of the menstrual cycle up to the time of ovulation and a progressive decrease thereafter. MN frequency did not fluctuate in a statistically significant way. No statistically significant differences in SCE, CA and MN frequencies were observed when fertile women were compared with women taking the contraceptive pill or those in menopause and no difference was found between women who had undergone physiological or surgically induced menopause. Moreover, no difference was found between women with a history of miscarriages and matched controls. These data together suggest that the natural variations in sexual hormone levels, but not those due to the contraceptive pill or their reduction at menopause, can contribute in modulating the baseline frequencies of SCEs and CAs. Moreover, these data suggest that the increased risks either of producing a chromosome imbalance in the progeny (eliciting miscarriages) or of occurrence of gynaecological diseases is not predictable by evaluating cytogenetic end-points in peripheral blood lymphocytes.
Abortion, Spontaneous↗
[Effect of thyroxine on the number of cells with aberrant chromosomes in the liver of rats following x-ray and neutron irradiation].
T4 effect on the quantity of cells with chromosome aberrations in rat liver under the hormone administration after X-ray irradiation was compared with that after neutron irradiation. It is shown that T4 administered after neutron irradiation does not decrease chromosome injury, which is considered as a proof of its indirect effect after X-ray irradiation by means of genetic structure reparation.
Animals↗
Interactions between CYP1A1 polymorphisms and exposure to environmental tobacco smoke in the modulation of lymphocyte bulky DNA adducts and chromosomal aberrations.
CYP1A1 plays an important role in the metabolic activation of polycyclic aromatic hydrocarbons (PAH), carcinogenic components of air pollution. The influence of CYP1A1 genotype (*2A, *2B and *4) on the levels of lymphocyte bulky DNA adducts and the frequency of cells with aberrant chromosomes was assessed in 194 non-smoking subjects in whom recent exposure to environmental tobacco smoke (ETS) and airborne particulate-associated PAH were measured during two consecutive seasons (winter and summer). While CYP1A1*4 had no consistent effect on either biomarker of genetic damage, the levels of both biomarkers responded in a parallel fashion to changes in exposure/CYP1A1*2A genotype combinations during both seasons. Specifically, the levels of both biomarkers were increased in carriers of at least one CYP1A1*2A allele, as compared with CYP1A1*1 homozygotes, in subjects with ETS exposures >0.8 h/day during the previous 4 days and mean personal exposure to benzo[a]pyrene <0.9 ng/m3 during the previous 24 h (all P < 0.05). Outside these exposure limits the differential effect in CYP1A1*2A variants was lost. Although the numbers of subjects with the CYP1A1*2B polymorphism was small, the same trend appeared to be followed in this case. These effects are interpreted as resulting from differential induction of CYP1A1 expression in CYP1A1*2A and CYP1A1*2A/*2B carriers by components of ETS-polluted air at levels of exposure readily suffered by large segments of the general population and suggest that subjects with these genotypes may have increased susceptibility to the genotoxic effects of ETS.
Adolescent↗
Epidemicity of chromosome aberrations. An assessment of epidemiological investigations on chromosome aberrations.
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Abortion, Spontaneous↗
Studies on chromosome aberrations in the eggs of mice fertilized in vitro after irradiation. I. Chromosome aberrations induced in sperm after X-irradiation.
The induction of chromosome aberrations in eggs of mice fertilized with X-irradiated sperm was performed by using an in vitro fertilization technique. Capacitated mature sperm was irradiated with various doses of X-rays and cytological analysis of the first cleavage metaphase of in vitro fertilized eggs was made. The frequencies of chromosome aberrations increased exponentially with dose and the dose-response relationship for overall breaks fitted well to a quadratic equation. The chromosome aberrations were mainly chromosome-type (82.1%), and the majority of aberrations were fragments.
Animals↗