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1
Ito, S., H. Sumitomo, and Y. Matsuoka. "Detection of Activity-Induced Chromosomal Aberrations Using Image Analysis." Water Science and Technology 25, no. 11 (June 1, 1992): 227–34. http://dx.doi.org/10.2166/wst.1992.0296.
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Image analysis was applied to chromosomal aberration tests carried out on Chinese hamster lung cell (CHL). First, chromosomes on pictures which had been judged to be normals or aberrations by experts were analyzed by the authors' image analyzer. 802 chromosomes including 83 aberrations were distinguished by an algorithm which was developed with shape parameters. Consequently, 91.1% of exchanged-type aberrations, 47.4% of broken-type aberrations, and 97.9% of normals were correctly distinguished. And it was concluded that this algorithm could be put into practical detections of exchanged-type aberrations. Subsequently, activity-induced chromosomal aberrations of chlorinated lake water were investigated with the developed algorithm. Activity-induced chromosomal aberrations of chlorinated water depended on the chlorination pH, revealing a pattern of decreasing activity with increasing pH. It was a converse pattern for that of chloroform production.
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Heng, Henry H. Q., Guo Liu, Steven Bremer, Karen J. Ye, Joshua Stevens, and Christine J. Ye. "Clonal and non-clonal chromosome aberrations and genome variation and aberration." Genome 49, no. 3 (March 1, 2006): 195–204. http://dx.doi.org/10.1139/g06-023.
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The theoretical view that genome aberrations rather than gene mutations cause a majority of cancers has gained increasing support from recent experimental data. Genetic aberration at the chromosome level is a key aspect of genome aberration and the systematic definition of chromosomal aberrations with their impact on genome variation and cancer genome evolution is of great importance. However, traditionally, efforts have focused on recurrent clonal chromosome aberrations (CCAs). The significance of stochastic non-clonal chromosome aberrations (NCCAs) is discussed in this paper with emphasis on the simple types of NCCAs that have until recently been considered "non-significant background". Comparison of various subtypes of transitional and late-stage CCAs with simple and complex types of NCCAs has uncovered a dynamic relationship among NCCAs, CCAs, overall genomic instability, and karyotypic evolution, as well as the stochastic nature of cancer evolution. Here, we review concepts and methodologies to measure NCCAs and discuss the possible causative mechanism and consequences of NCCAs. This study raises challenging questions regarding the concept of cancer evolution driven by stochastic chromosomal aberration mediated genome irregularities that could have repercussions reaching far beyond cancer and organismal genomes.Key words: clonal chromosome aberration (CCA), transitional CCA, non-clonal chromosome aberration (NCCA), karyotype, cancer evolution, genome aberration and variation.
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Kozoviy, Ruslan. "Frequency and Spectrum of Chromosomal Aberrations, Acrocentric Chromosome Associations Among Long Livers with Arterial Hypertension and Osteoarthritis Residing in the Carpathian Region." Galician Medical Journal 24, no. 1 (March 27, 2017): 2017111. http://dx.doi.org/10.21802/gmj.2017.1.11.
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The frequency and spectrum of chromosomal aberrations, acrocentric chromosome associations among 264 long livers with arterial hypertension and osteoarthritis residing in the Carpathian region were analyzed. The obtained results were compared between patients with arterial hypertension and osteoarthritis, patients with arterial hypertension only, patients with osteoarthritis only and healthy individuals. The indices of the average frequency of chromosomal aberrations in all long livers was as follows: (2.82±0.27) in long livers with arterial hypertension and osteoarthritis and (2.17±0.47) in healthy individuals. In long livers with arterial hypertension and those with osteoarthritis, the frequency of chromosomal aberrations was 1.38 times higher compared to the control group (healthy long livers). The frequency of chromosomal abnormalities in long livers with arterial hypertension and those with osteoarthritis was (2.93±0.09) and (2.64±0.37), respectively.At the same time, there was observed the individual variability in chromosomal aberration frequency from 0.2 to 5%. In the spectrum of chromosomal aberrations, unstable chromosomal aberrations (dicentrics, rings, fragments) predominated in all long livers. When studying the index of acrocentric chromosome associations there was revealed that the difference in the indices between studied groups was identical to that when studying the frequency of chromosomal aberrations. In long livers with arterial hypertension and osteoarthritis, the index of the average number of acrocentric chromosome associations per cell was 1.07 times higher than that in long livers with arterial hypertension only, 1.32 times higher compared to that in long livers with osteoarthritis only and 1.75 times higher compared to healthy individuals (p<0.05).
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Li, Jianyong, Bing Xiao, Lijuan Chen, Yu Zhu, Wei Xu, and Hairong Qiu. "Whole Chromosome Painting and Multiplex Fluorescence In Situ Hybridization in Detecting Complex Chromosomal Aberrations in Myelodysplastic Syndromes." Blood 108, no. 11 (November 16, 2006): 4853. http://dx.doi.org/10.1182/blood.v108.11.4853.4853.
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Abstract Objective To explore the value of the technique of whole chromosome painting (WCP) and multiplex fluorescence in situ hybridization (M-FISH) in the detection of complex chromosomal aberrations (CCAs) of myelodysplastic syndromes (MDS). Methods M-FISH was used in seven MDS patients with CCAs detected by R-banding technique to refine CCAs, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH. Results In all cases, M-FISH confirmed all results of R-banding.The composition and origin of 6 kinds of marker chromosomes, 9 kinds of chromosomes with additional material undetermined and 5 kinds of derivative chromosomes undefined by CC were defined after M-FISH analysis; 4 kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations: aberrations involving chromosome 17 (5/7) and -5/5q- (4/7) were the two most frequent aberrations. Fluorescence flaring is a main factor leading to misinterpretations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP. Conclusions M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP helped us identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques M-FISH and WCP can unravel complex chromosomal aberrations more precisely.
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Eidelman, Yuri, Ilya Salnikov, Svetlana Slanina, and Sergey Andreev. "Chromosome Folding Promotes Intrachromosomal Aberrations under Radiation- and Nuclease-Induced DNA Breakage." International Journal of Molecular Sciences 22, no. 22 (November 10, 2021): 12186. http://dx.doi.org/10.3390/ijms222212186.
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The long-standing question in radiation and cancer biology is how principles of chromosome organization impact the formation of chromosomal aberrations (CAs). To address this issue, we developed a physical modeling approach and analyzed high-throughput genomic data from chromosome conformation capture (Hi-C) and translocation sequencing (HTGTS) methods. Combining modeling of chromosome structure and of chromosomal aberrations induced by ionizing radiation (IR) and nuclease we made predictions which quantitatively correlated with key experimental findings in mouse chromosomes: chromosome contact maps, high frequency of cis-translocation breakpoints far outside of the site of nuclease-induced DNA double-strand breaks (DSBs), the distinct shape of breakpoint distribution in chromosomes with different 3D organizations. These correlations support the heteropolymer globule principle of chromosome organization in G1-arrested pro-B mouse cells. The joint analysis of Hi-C, HTGTS and physical modeling data offers mechanistic insight into how chromosome structure heterogeneity, globular folding and lesion dynamics drive IR-recurrent CAs. The results provide the biophysical and computational basis for the analysis of chromosome aberration landscape under IR and nuclease-induced DSBs.
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Zemanova, Zuzana, Kyra Michalova, Libuse Babicka, Lenka Pavlistova, Marie Jarosova, Milena Holzerova, Alexandra Oltova, et al. "Clinical Relevance of Complex Chromosomal Aberrations in Bone Marrow Cells of 107 Children with ETV6/RUNX1 Positive Acute Lymphoblastic Leukemia (ALL)." Blood 108, no. 11 (November 1, 2006): 2278. http://dx.doi.org/10.1182/blood.v108.11.2278.2278.
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Abstract Cryptic translocation t(12;21)(p13;q22) which give origin to the ETV6/RUNX1 hybrid gene can be found by I-FISH in approximately 20–25% of children with B precursor ALL as the most frequent specific aberration. This translocation is generally associated with good outcome. Despite of its favorable prognostic value, late relapses may occur within this group of patients. One of the reasons could be the high instability of the genome of leukemic cells, which is manifested at the chromosomal level by additional aberrations and/or complex chromosomal rearrangements. The aim of the study was to evaluate the significance of the additional chromosomal aberrations for prognosis of children with ETV6/RUNX1 positive ALL. For the assessment of ETV6/RUNX1 fusion gene RT-PCR and/or double target interphase FISH with locus-specific probe (Abbott-Vysis, Des Plaines, Illinois, USA) were used (200 interphase nuclei analyzed, cut-off level 2.5% tested on controls, standard deviation ≤0.5%). Karyotypes were analyzed by conventional and molecular cytogenetic methods. Structural and/or complex chromosomal aberration were verified by FISH with whole chromosome painting probes (Cambio, Cambridge, UK) and/or by mFISH with the "24XCyte" probe kit (MetaSystems GmbH, Altlussheim, Germany). We performed prospective and retrospective study of 107 children with ALL and ETV6/RUNX1 fusion gene detected by RT-PCR and/or I-FISH. Patients were diagnosed between 1995 and 2006, age ranged between 15 months and 16.9 years (median 4.2 years). Relapse appeared in 19 children (17.8%), four of them died. In 64 children (59.8%) we found besides t(12;21)(p13;q22) additional chromosomal aberrations, the most frequently trisomy or tetrasomy of chromosome 21 (20 cases), deletion of non-translocated ETV6 allele (24 cases), deletion of 6q (7 cases) and/or rearrangements of the long arm of chromosome X (6 cases). Complex karyotypes were identified in 38 children (35.5%). In twelve of them variant translocations of chromosomes 12 and 21 with other partners were observed. Event-free survival (EFS) was significantly shorter in patients with additional structural and/or complex aberrations in ETV6/RUNX1 positive cells (p=0.01). In our cohort complex karyotypes indicated poor prognosis. Finding of complex chromosomal aberrations in leukemic cells is accompanied by higher risk of relapse even in those cases where the prognostically positive aberration is primarily present.
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Salaskar, Vidya, Gauri Pradhan, Anurita Pais, Chaitali Kadam, and Sunmeet Matkar. "Evaluation of constitutional chromosomal abnormalities: experience of a tertiary healthcare diagnostic laboratory in India." International Journal of Research in Medical Sciences 5, no. 12 (November 25, 2017): 5293. http://dx.doi.org/10.18203/2320-6012.ijrms20175443.
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Background: Structural and numerical chromosomal aberrations contribute significantly to genetic disease. Unbalanced aberrations are associated with congenital anomalies, mental retardation and underdevelopment of secondary sexual characters while balanced structural chromosomal abnormalities contribute to an increased risk for infertility, bad obstetric history and chromosomally unbalanced offspring with multiple congenital abnormalities and intellectual impairment. Aim of the current study was to determine the prevalence and characterization of cytogenetic aberrations in 8445 cases referred during the years 2010-2013 for cytogenetic evaluation.Methods: Metaphase chromosomes from 72-hour blood lymphocyte culture were prepared for Giemsa-Trypsin-G banding. Characterization of marker chromosomes were done by M-FISH and subtle chromosomal aberrations were evaluated by targeted FISH using centromeric probes for chromosome 13,18,21, X and Y and loci specific probes for microdeletion syndromes and SRY gene.Results: Variant forms of trisomies i.e. partial trisomies were seen in cases with Edwards and Patau syndrome. Sex chromosomal abnormalities associated with puberty and reproductive problems were seen in cases with Turner syndrome, Klinefelter syndrome and also in females with primary amenorrhea. Autosomal reciprocal translocations were the most common chromosomal changes in couples with recurrent abortions. In order to increase the diagnostic yield and evaluate variations, FISH and m-FISH were additional tests done to characterize the genetic variations.Conclusions: Along with Karyotyping SRY, XIST, SHOX9 gene analysis and Y microdeletion analysis are also critial tests to assess the possibilities for normal development or assisted reproduction in individuals with sex chromosomal abnormalities.
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Xharra, S., E. Behluli, A. Moder, H. Nefic, R. Hadziselimovic, and G. Temaj. "Association of X Chromosome Aberrations with Male Infertility." Acta Medica Bulgarica 48, no. 4 (November 1, 2021): 69–72. http://dx.doi.org/10.2478/amb-2021-0051.
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Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.
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Schoch, Claudia, Susanne Schnittger, Wolfgang Kern, Torsten Haferlach, and Frank Dicker. "Immunostimulatory CpG-Oligonucleotide Activated Metaphase Cytogenetics Is Feasible in Routine Diagnostics of Chronic Lymphocytic Leukaemia and Reveals More Abnormalities Than Interphase FISH." Blood 106, no. 11 (November 16, 2005): 3252. http://dx.doi.org/10.1182/blood.v106.11.3252.3252.
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Abstract Genetic characterization of chronic lymphocytic leukemia (CLL) cells by fluorescence in situ hybridization (FISH) has identified genetic aberrations in 80% of CLL patients. In contrast, conventional metaphase cytogenetics detected chromosomal aberrations in only 40–50% of all cases. Immunostimulatory CpG-oligonucleotides (CpG-ODN) in combination with interleukin 2 (IL-2) have recently been reported to induce proliferation in CLL B cells. Therefore, we evaluated this stimulus for its efficacy in metaphase generation for the detection of chromosomal aberrations by cytogenetic banding techniques. In addition these results were compared with data obtained by interphase FISH. For metaphase induction 107 cells were cultured in growth medium with the CpG-ODN DSP30 and IL-2. After 2 days colchicine was added for another 24h before preparation. Of the 133 samples that were included in this study, all cases could be successfully analyzed by interphase FISH with a rate of 79% aberrations like deletions of chromosomes 13q (57%, in 38% as sole abnormality), 11q (17%), trisomy 12 (13%), 6q (7%), 17p (6%) and translocations involving 14q32 (4%). By FISH 55% of all samples showed a single aberration, 22% two aberrations and 2% 3 aberrations. In comparison, 126 cases (95%) could be successfully analyzed by cytogenetic banding techniques. 102 (81%) of the 126 samples showed chromosomal aberrations, which involved all different chromosomes. 9 cases with a normal karyotype in conventional cytogenetics revealed genetic aberrations by FISH. In all but 1 of these cases the aberrant clone represented < 30% of the cell population. In addition to the aberrations that were detected by the FISH probes, a substantial amount of other aberrations was revealed by chromosome banding analysis. Interestingly, 10 cases of a total of 27 cases without abnormalities detected by FISH displayed aberrations in chromosome analysis indicating that the true amount of CLL patients with aberrations exceeds 79%. Overall, 47 samples (37%) showed chromosomal aberrations in chromosome banding analysis in addition to FISH analysis. Compared to FISH analysis, which detected 2 cases with 3 aberrations, metaphase cytogenetics detected 22 cases with 3 or more unbalanced aberrations, which can be considered as a complex aberrant karyotype. Loss of p53 referred to as del(17p13) in FISH has attracted considerable attention, because of the poor clinical outcome of affected patients. In our study, all del(17p13) cases (n=7) displayed either a loss of the short arm of chromosome 17 (n=6) or a complete loss of chromosome 17 (n=1) indicating that chromosomal regions in addition to the p53 locus might be relevant for this phenotype. Furthermore, numerous recurrent aberrations have been identified in this study beyond the aberrations that are detected by FISH. Of note are gains of 2p and 3q, losses in 11q13 and gains in 11q23–25, gains in 13q31–34, gains of 17q21–25 and cases with trisomy 18 and 19, which occurred in parallel to trisomy 12. The results of the present study show that immunostimulatory CpG-oligonucleotides plus interleukin 2 are a simple and cheap stimulus for efficient metaphase induction in CLL. The rate of aberrations detected by conventional banding techniques was even slighty increased compared to FISH analysis, however, the complexity of cytogenetic aberrations is underestimated by FISH analysis in a large portion of CLL cases (37%).
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Yahaya, Muhammad Sanusi, Mohd Shahrom Salisi, Nur Mahiza Md Isa, Goh Yong Meng, and Abdwahid Haron. "Prevalence of chromosome anomalies in a deer farm with fertility decline in Malaysia." Future Science OA 6, no. 6 (July 1, 2020): FSO580. http://dx.doi.org/10.2144/fsoa-2020-0037.
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Background: A number of factors are known to reduce fertility rate in animals and one of the important categories of such factors is chromosome anomalies. They can occur with or without causing phenotypic abnormalities on animals; in some cases, they may directly affect meiosis, gametogenesis and the viability of conceptus. In many instances, balanced structural rearrangements can be transmitted to offspring, affecting fertility in subsequent generations. Aim: This work investigated the occurrence of chromosome aberrations in Rusa timorensis, Rusa unicolor and Axis axis raised in a nucleus deer farm in Malaysia with a history of declining fertility of unknown origin. Materials & methods: Blood samples were collected from 60 animals through venipuncture, cultured for 72 h and arrested at metaphase. SmartType® and Ideokar® software were used to karyotype the chromosomes. Results: We found 15 out of the 60 animals screened from both sexes harbor some form of chromosome aberration. Chromosomal aberrations exist at the rate of 25% and may not be unconnected with the observed reduced fertility on the farm. Further investigations should be carried out, especially on the offspring of the studied animals to transmission of these aberrations. The animals that are confirmed to transmit the chromosomal aberrations should be culled to arrest the propagation of their abnormalities.
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Natarajan, Adayapalam T., Günter Obe, and Makoto Hayashi. "Chromosomal aberrations." Mutation Research/Genetic Toxicology and Environmental Mutagenesis 657, no. 1 (November 2008): 1–2. http://dx.doi.org/10.1016/j.mrgentox.2008.08.013.
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Bagatska, N. V., V. E. Nefidova, and O. V. Medzianovska. "Features of the chromosomal apparatus in patients with juvenile idiopathic arthritis with concomitant multifactorial pathology." Faktori eksperimental'noi evolucii organizmiv 24 (August 30, 2019): 193–96. http://dx.doi.org/10.7124/feeo.v24.1100.
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Aim. To determine the level of chromosomal disorders in peripheral blood lymphocytes of children and adolescents with juvenile idiopathic arthritis with concomitant multifactorial pathology in vitrо. Methods. Cytogenetic analysis was carried out in patients with juvenile idiopathic arthritis with concomitant multifactorial pathology in vitro, using a common methodology. Statistical analysis of the results of research was carried out using Excel software package and SPSS Statistics 17.0. Results. Chromosomal aberrations in peripheral blood lymphocytes were revealed in 100 % of patients. The general level of chromosomal abnormalities in the patients with concomitant pathology was 5.57 per 100 cells, and in the comparison group – 4.10 per 100 cells. In both groups aberrations of chromatid type prevailed. Conclusions. In patients with juvenile idiopathic arthritis, accompanied by different multifactorial disorders, spontaneous level of chromosomal abnormalities in blood lymphocytes in vitro was 1.4 times higher compared to the level of chromosomal aberrations in patients without concomitant pathology. The frequency of chromatid type aberrations was higher than the chromosome type aberrations rate in 1.6 times in the main group and in 2.2 times in the comparison group.
Keywords: juvenile idiopathic arthritis, children, adolescents, chromosomes, aberrations, concomitant multifactorial pathology.
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Klampfl, Thorsten, Ashot Harutyunyan, Tiina Berg, Bettina Gisslinger, Martin Schalling, Klaudia Bagienski, Damla Olcaydu, et al. "Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression." Blood 118, no. 1 (July 7, 2011): 167–76. http://dx.doi.org/10.1182/blood-2011-01-331678.
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Abstract Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs) are clonal myeloid disorders with increased production of terminally differentiated cells. The disease course is generally chronic, but some patients show disease progression (secondary myelofibrosis or accelerated phase) and/or leukemic transformation. We investigated chromosomal aberrations in 408 MPN samples using high-resolution single-nucleotide polymorphism microarrays to identify disease-associated somatic lesions. Of 408 samples, 37.5% had a wild-type karyotype and 62.5% harbored at least 1 chromosomal aberration. We identified 25 recurrent aberrations that were found in 3 or more samples. An increased number of chromosomal lesions was significantly associated with patient age, as well as with disease progression and leukemic transformation, but no association was observed with MPN subtypes, Janus kinase 2 (JAK2) mutational status, or disease duration. Aberrations of chromosomes 1q and 9p were positively associated with disease progression to secondary myelofibrosis or accelerated phase. Changes of chromosomes 1q, 7q, 5q, 6p, 7p, 19q, 22q, and 3q were positively associated with post-MPN acute myeloid leukemia. We mapped commonly affected regions to single target genes on chromosomes 3p (forkhead box P1 [FOXP1]), 4q (tet oncogene family member 2 [TET2]), 7p (IKAROS family zinc finger 1 [IKZF1]), 7q (cut-like homeobox 1 [CUX1]), 12p (ets variant 6 [ETV6]), and 21q (runt-related transcription factor 1 [RUNX1]). Our data provide insight into the genetic complexity of MPNs and implicate new genes involved in disease progression.
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Bayou, Nadia, Ridha M'rad, Ahlem Belhaj, Hussein Daoud, Lamia Ben Jemaa, Ramzi Zemni, Sylvain Briault, M. Bechir Helayem, and Habiba Chaabouni. "De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder." Journal of Biomedicine and Biotechnology 2008 (2008): 1–5. http://dx.doi.org/10.1155/2008/231904.
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The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.
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Khanna, Namita, and Sonia Sharma. "Allium Cepa Root Chromosomal Aberration Assay: A Review." Indian Journal of Pharmaceutical and Biological Research 1, no. 03 (September 30, 2013): 105–19. http://dx.doi.org/10.30750/ijpbr.1.3.15.
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Higher plants, an important material for genetic tests to monitor various pollutant present in the environment. Among the plant species, Alium cepa has been used to evaluate chromosome aberrations and disturbances in the mitotic cycle. Now days, it has been used to assess a great number of genotoxic/antigenotoxic agents, which contributes to its increasing application in environmental monitoring. The A. cepa is commonly used as a test organism because it is cheap, easily available and handled and has advantages over other short-term tests. Among the endpoints of A. cepa root chromosomal aberrations, detection of chromosomal aberration have been the most used one to detect genotoxicity/ antigenotoxicity along the years. The mitotic index and chromosomal abnormalities are used to evaluate genotoxicity and micronucleus analysis used to verify mutagenicity of different chemicals. The Allium cepa root chromosomal aberration assay is widely used to determine genotoxic and antigenotoxic effects of different plant extracts.
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Bassett, Anne S. "Chromosomal Aberrations and Schizophrenia." British Journal of Psychiatry 161, no. 3 (September 1992): 323–34. http://dx.doi.org/10.1192/bjp.161.3.323.
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Chromosomal aberrations associated with schizophrenic disorders may suggest regions in which to focus a search for genes predisposing to schizophrenia by a linkage strategy. As for other genetic illnesses, chromosomal abnormalities may also provide useful tools for subsequent physical mapping, fine localisation, and isolation of important susceptibility genes. Identification of several chromosomal aberrations may be especially important, given the unknown pathophysiology, the paucity of known brain genes, and the probable genetic heterogeneity of schizophrenia and manic-depression. However, because psychiatric disorders are common and inherited in a complex manner, researchers must use caution when drawing inferences about associations with chromosomal aberrations. Reported abnormalities involving autosomes (chromosomes 1–22) associated with psychotic disorders are reviewed. Their relevance to linkage studies localising genes for schizophrenia was estimated by standardised criteria for specificity, diagnosis, family history, and overall weight of evidence. Four ‘possibly relevant’ chromosomal regions were identified: 5q, 11q, 18q, and 19p. This paper outlines strategies for future studies to detect new chromosomal aberrations associated with major psychotic disorders that may be relevant to isolating the genes for schizophrenia.
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Kocherha, Z. P., and L. Ye Kovalchuk. "Cytogenetic aspects instability to the genome in newborns from different ecological districts of Ivano-Frankivsk region." Faktori eksperimental'noi evolucii organizmiv 23 (September 9, 2018): 202–7. http://dx.doi.org/10.7124/feeo.v23.1015.
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Aim. Оf the research work was to establish the frequency and spectrum of chromosomal aberrations, associations of acrocentric chromosomes in infants from different ecological regions of Ivano-Frankivsk region. Methods. Metaphase plates of 187 infants from different ecological districts have been analyzed with the aim to determine the frequency and spectrum of chromosomal aberrations, associations of acrocentric chromosomes in newborns. Results. The obtained results of the frequency of associations of acrocentric chromosomes correlated with the frequency indices of chromosomal aberrations (r correlated from 0.68 to 0.84), that proved the negative influence of ecological living conditions on immunogenetic status and adaptive human capabilities. Conclusions.It was determined that the total number of chromosomal aberrations in newborns from districts of ecological comfort was 2.0 and 2.3 times lower as compared to newborns from zones with chemical and radiation contamination. The frequency of cells with associations of acrocentric chromosomes was 7.8 % higher in children from zones of chemical contamination and 9.9 % from zones of radiation pollution as compared to the children from districts of ecological comfort.
Keywords: chromosomal aberrations, associations of acrocentric chromosomes, newborns, ecological zones.
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Pedersen-Bjergaard, J., M. Pedersen, D. Roulston, and P. Philip. "Different genetic pathways in leukemogenesis for patients presenting with therapy-related myelodysplasia and therapy-related acute myeloid leukemia." Blood 86, no. 9 (November 1, 1995): 3542–52. http://dx.doi.org/10.1182/blood.v86.9.3542.bloodjournal8693542.
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Development of myelodysplasia (MDS) with subsequent progression to acute myeloid leukemia (AML) is an example of the multistep process of malignant transformation in which each step often relates to genetic abnormalities that can be directly seen as chromosomal aberrations. Therapy-related MDS and AML (t-MDS and t-AML) may serve as an ideal model for a study of the genetic evolution of MDS and AML because chromosomal abnormalities are observed in most cases and because the disease is often diagnosed early due to a close patient follow-up. The cytogenetic characteristics at diagnosis were studied in 137 consecutive cases of t-MDS and t-AML, including 22 new cases, and correlated with the clinical characteristics and the course of the disease. Balanced translocations to chromosome bands 11q23 and 21q22 represent primary steps in pathways leading directly to overt t-AML. Specific chromosomal deletions or losses, on the other hand, represent primary or secondary events in alternative pathways leading to t-MDS with potential for subsequent transformation to overt t-AML. Loss of a whole chromosome 7 (-7) or deletion of its long arm (7q-) and deletion of the long arm of a chromosome 5 (5q-) were the most frequent primary abnormalities significantly related to t-MDS. Loss of a whole chromosome 5 (-5) was also a primary event, but surprisingly, was observed equally in t-MDS and in t-AML. Deletion of chromosome 13, including bands q13q14, was another less common primary aberration of t- MDS. Except for -7 and del(13q), these primary aberrations were most often observed together with secondary abnormalities. These included balanced aberrations involving band 3q26 and various deletions of chromosome 3, a gain of a whole chromosome 8, deletions of the short arm or loss of chromosomes 12 and 17, loss of a whole chromosome 18, and deletions of the short arm of chromosome 21. Deletions or loss or chromosomes 5 and 7 were significantly associated with previous therapy with alkylating agents (P = .002), and balanced translocations to chromosome bands 3q26, 11q23, and 21q22 were significantly associated with previous therapy with drugs targeting DNA-topoisomerase II (P < .00005). Other characteristic aberrations were not related to any specific type of therapy. The molecular changes believed to contribute to the development of t-MDS and t-AML have been identified for many of these chromosomal abnormalities.
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Dzitsiuk, V., and H. Tipilo. "Chromosomal anomalies in dairy cattle as reasons of impaired fertility." Agricultural Science and Practice 6, no. 1 (April 15, 2019): 60–66. http://dx.doi.org/10.15407/agrisp6.01.060.
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Aim. The evaluation of animals for the presence of chromosomal anomalies is one of the main tasks of prac- tical selection, aimed at detecting undesired chromosomal anomalies in early age, which may have negative impact on the reproductive and productive capability of cows and lead to considerable economic losses. The aim of the work is a cytogenetic analysis of the chromosome set in cows of Ukrainian Red-and-Motley dairy cattle breed, which will allow assuming a decrease in reproductive functions with chromosomal aberrations. Methods. We examined 53 cows of the Ukrainian Red-and-Motley dairy cattle breed in SE Research Farm Khrystynivske, IABG named after M.V. Zubets, NAAS. The investigation of chromosomal anomalies involved 72-h cultivation of lymphocytes from the peripheral blood of animals using the common methods. During a routine analysis the preparations were stained with 2 % Giemsa staining solution. The induction of G-bands for differential staining of chromosomes was conducted using 0.25 % solution of trypsin. The processing of study results was performed with Microsoft Excel software package. Results. The investigations in the aberration spectrum detected aneuploid and polyploid cells, breaks and fragments of chromosomes, premature chromo- some disjunction in mitosis and translocation. The total number of aberrant cells in cows with decreased fertil- ity was 14.69 ± 0.56 %, the number of aberrations per one investigated cell was 0.144, which was almost twice reliably (Р < 0.999) exceeding the values of similar features for cows which did not have problems with repro- duction. GTG-banding method was used to detect a new RT 13/23 Robertsonian translocation. Conclusions. The cytogenetic analysis of chromosome set of Ukrainian Red-and-Motley dairy breed cows allows assuming the connection between a decrease in the fertility of cows and chromosomal instability. A routine screening of dairy cows allows both evaluating the karyotype saturation with undesired chromosomal aberrations and using the obtained results to forecast the reproductive ability of an animal in the early age.
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Iannuzzi, Alessandra, Viviana Genualdo, Angela Perucatti, Alfredo Pauciullo, Giovanna Varricchio, Domenico Incarnato, Donato Matassino, and Leopoldo Iannuzzi. "Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)." Cytogenetic and Genome Research 146, no. 3 (2015): 222–29. http://dx.doi.org/10.1159/000438973.
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A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability to stand. Anamnesis revealed that the mother, phenotypically normal, carried a chromosomal aberration. The newborn died after 2 weeks, and no remarkable alterations were found by the veterinarian on postmortem examination. The mother was a carrier of a reciprocal balanced translocation rcp(11;25)(q11,q14∼21) detected after a cytogenetic investigation in 2011; however, the analysis of the newborn revealed a different chromosomal aberration with partial trisomy of chromosome 25 and partial monosomy of chromosome 11. In fact, the results showed both chromosomes 25, one chromosome 11 and only one long derivative chromosome (der11). FISH analysis, performed using BAC clones, confirmed the chromosomes and their regions involved. Finally, both the localization of the breakpoints on band q11 (centromere) of chromosome 11 and band q14-21 of chromosome 25, and the complete loss of the der25 identified the aberration as an unbalanced translocation 60,XX,der(11)t(11;25)(q11;q14∼21). A comparison with human chromosomes was also performed to search for similarities and possible genes involved in order to study their effects, thus extending the knowledge of these aberrations by case reports.
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Binz, Regina L., Ratan Sadhukhan, Isabelle R. Miousse, Sarita Garg, Igor Koturbash, Daohong Zhou, Martin Hauer-Jensen, and Rupak Pathak. "Dietary Methionine Deficiency Enhances Genetic Instability in Murine Immune Cells." International Journal of Molecular Sciences 22, no. 5 (February 27, 2021): 2378. http://dx.doi.org/10.3390/ijms22052378.
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Both cell and animal studies have shown that complete or partial deficiency of methionine inhibits tumor growth. Consequently, the potential implementation of this nutritional intervention has recently been of great interest for the treatment of cancer patients. Unfortunately, diet alteration can also affect healthy immune cells such as monocytes/macrophages and their precursor cells in bone marrow. As around half of cancer patients are treated with radiotherapy, the potential deleterious effect of dietary methionine deficiency on immune cells prior to and/or following irradiation needs to be evaluated. Therefore, we examined whether modulation of methionine content alters genetic stability in the murine RAW 264.7 monocyte/macrophage cell line in vitro by chromosomal analysis after 1-month culture in a methionine-deficient or supplemented medium. We also analyzed chromosomal aberrations in the bone marrow cells of CBA/J mice fed with methionine-deficient or supplemented diet for 2 months. While all RAW 264.7 cells revealed a complex translocation involving three chromosomes, three different clones based on the banding pattern of chromosome 9 were identified. Methionine deficiency altered the ratio of the three clones and increased chromosomal aberrations and DNA damage in RAW 264.7. Methionine deficiency also increased radiation-induced chromosomal aberration and DNA damage in RAW 264.7 cells. Furthermore, mice maintained on a methionine-deficient diet showed more chromosomal aberrations in bone marrow cells than those given methionine-adequate or supplemented diets. These findings suggest that caution is warranted for clinical implementation of methionine-deficient diet concurrent with conventional cancer therapy.
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Dada, Ebenezer O., Chioma M. Agu, and Modupe O. Akinola. "Physicochemical Quality and Genotoxic Potential of Wastewater Generated by Canteen Complex." ARO-THE SCIENTIFIC JOURNAL OF KOYA UNIVERSITY 7, no. 1 (May 1, 2019): 19. http://dx.doi.org/10.14500/aro.10463.
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Canteens generate high volumes of wastewater that should constantly be subjected to physicochemical and genotoxicity screening. In this study, the wastewater generated by a canteen complex was screened for physicochemical properties and genotoxic potential using standard procedures and Allium cepa chromosome assay. Results showed that the wastewater had total suspended solids, total dissolved solids, and total hardness concentrations of 120.70 mg/l, 554.50 mg/l, and 500.00 mg/l, respectively. The chloride concentration of the wastewater (7873.60 mg/l) was much higher than the recommended limit of 250 mg/l. The wastewater inhibited root growth in A. cepa at 0.1%, 1%, 10%, 25%, 50%, and 100% concentrations but promoted root growth at 2% and 5% concentrations. The wastewater was highly mitodepressive, with mitotic inhibition generally increasing with rising concentrations. The major chromosomal aberrations observed in A. cepa exposed to different concentrations of canteen wastewater were vagrant, sticky, and bridged chromosomes. No chromosomal aberration was observed in onion roots exposed to water (control). The differences in total chromosomal aberrations across wastewater concentrations were not statistically significant (P > 0.05). In view of these results, the practice of discharging untreated canteen wastewater into drainage canals may not be environmentally sustainable.
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Röpke, Albrecht, and Frank Tüttelmann. "MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility." European Journal of Endocrinology 177, no. 5 (November 2017): R249—R259. http://dx.doi.org/10.1530/eje-17-0246.
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Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno’s law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno’s law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.
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Yu, Miao, and Yu Bin Ji. "Study on Reversibility of Genetic Toxicity of TDI in Mice." Advanced Materials Research 183-185 (January 2011): 905–9. http://dx.doi.org/10.4028/www.scientific.net/amr.183-185.905.
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Study on whether genetic toxicity of toluene diisocyanate (TDI) is reversible. This paper detected Chromosomal aberrations and content of RNA & DNA. Chromosome aberration rate and the RNA/DNA ratio of TDI 1/4LC50 and 1/2 LC50 dosing exposure group were higher than negative control group significantly (P<0.01). There was no significant difference between 1/4LC50 and 1/2LC50 (P>0.05).The results showed that the damage of TDI on chromosomes and DNA was repairable, but can not be repaired completely.
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McNeil, Nicole, and Thomas Ried. "The role of cytokines in immunological tolerance: potential for therapy." Expert Reviews in Molecular Medicine 2, no. 7 (September 14, 2000): 1–14. http://dx.doi.org/10.1017/s1462399400001940.
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Molecular cytogenetic techniques that are based on fluorescence in situ hybridisation (FISH) have become invaluable tools for the diagnosis and identification of the numerous chromosomal aberrations that are associated with neoplastic disease, including both haematological malignancies and solid tumours. FISH can be used to identify chromosomal rearrangements, by detecting specific DNA sequences with fluorescently labelled DNA probes. The technique of comparative genomic hybridisation (CGH) involves two-colour FISH. It can be used to establish ratios of fluorescence intensity values between tumour DNA and control DNA along normal reference metaphase chromosomes, and thereby to detect DNA copy-number changes such as gains and losses of specific chromosomal regions and gene amplifications. Spectral karyotyping (SKY) is a novel molecular cytogenetic method for characterising numerical and structural chromosomal aberrations. SKY involves the simultaneous hybridisation of 24 differentially labelled chromosome-painting probes, followed by spectral imaging and chromosome classification, and produces a colour karyotype of the entire genome. The use of SKY has contributed significantly to the identification of chromosomal anomalies that are associated with constitutional and cancer cytogenetics, and has revealed many aberrations that go undetected by traditional banding techniques. In this article, we have reviewed these new molecular cytogenetic techniques and described their various applications in molecular medicine.
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Al-Maghrabi, Jaudah, Lada Vorobyova, A. Toi, William Chapman, Maria Zielenska, and Jeremy A. Squire. "Identification of Numerical Chromosomal Changes Detected by Interphase Fluorescence In Situ Hybridization in High-Grade Prostate Intraepithelial Neoplasia as a Predictor of Carcinoma." Archives of Pathology & Laboratory Medicine 126, no. 2 (February 1, 2002): 165–69. http://dx.doi.org/10.5858/2002-126-0165-ionccd.
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Abstract Context.—High-grade prostate intraepithelial neoplasia (HPIN) is the most likely precursor of prostate cancer. The condition of many patients with a diagnosis of HPIN in prostate needle core biopsy could, if left untreated, progress to invasive cancer. Currently there is no available clinical, immunohistochemical, or morphologic criteria that are predictive of this progression. Objective.—To determine whether chromosomal instability in these precursor lesions could increase their predictive value for cancer detection. Design.—Dual-color interphase fluorescence in situ hybridization analysis was performed on archived prostate needle core biopsies from 54 patients with initial diagnosis of isolated HPIN and follow-up of 3 years or more. We used commercially available centromere probes for chromosomes 4, 7, 8, and 10. We had interpretable results in 44 patients as follows: (1) group A: 24 HPIN patients with persistent HPIN and/or benign lesions in the follow-up biopsies, and (2) group B: 20 HPIN patients with progression to prostate carcinoma. Results.—Twenty-five percent of the patients in group B displayed numeric chromosomal aberrations. Only 8.3% of the patients from group A had chromosomal abnormalities (P = .1). The observed overall chromosomal changes in HPIN were higher than those in normal or hyperplastic epithelium, with a statistically significant difference (P < .05). All aberrations were detected in the form of chromosomal gain. Overall, the commonest aberration was gain of chromosome 8, followed by gains of chromosomes 7 and 10. Conclusion.—These results indicated that although no single numeric chromosomal abnormality could be assigned as a predictor of HPIN progression to carcinoma, the overall level of numeric chromosomal abnormalities shows a trend of elevation in HPIN patients whose condition subsequently progressed to carcinoma.
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Sunil Kumar, K. B., Raveendran Ankathil, and K. S. Devi. "Chromosomal Aberrations Induced by Methyl Parathion in Human Peripheral Lymphocytes of Alcoholics and Smokers." Human & Experimental Toxicology 12, no. 4 (July 1993): 285–88. http://dx.doi.org/10.1177/096032719301200405.
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1 Two different concentrations (0.08 and 0.16 μg ml-1) of methyl parathion (MP), a broad-spectrum insecticide, were tested on peripheral lymphocytes of healthy non-smoking non-alcoholics (CN), chronic smokers (SM) and alcoholics with smoking habit (ALSM). 2 SM and ALSM revealed a significant increase in chromosome aberration frequencies in peripheral lymphocytes compared to the CN group. 3 MP did not induce chromosomal aberrations in vitro in the CN group at either of the concentrations tested. 4 In SM and ALSM , MP induced a significant increase in chromosomal aberrations in vitro in peripheral lymphocytes at a concentration of 0.16 μg ml-1. 5 The results indicate that the damage induced by MP in peripheral lymphocytes is potentiated by smoking and alcohol intake.
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Escobar, H., I. Nolte, and N. Reimann-Berg. "Relevance of chromosome 13 aberrations in canine tumours." Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 40, no. 04 (2012): 267–70. http://dx.doi.org/10.1055/s-0038-1623649.
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SummaryFor human tumours there are many reports documenting the correlation between chromosome aberrations and tumour entities. Due to the complex canine karyotypic pattern (78 chromosomes), cytogenetic studies of tumours of the dog are rare. However, the reports in the literature show, that canine chromosome 13 (CFA 13) is predominantly involved in chromosomal changes. Interestingly, CFA 13 shows high homology to regions on the human chromosomes 4 (HSA 4) and 8 (HSA 8), which harbour the proto-oncogenes c-KIT and c-MYC. Both of these genes are involved in the development and progression of some human and canine tumour diseases.
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Mayr, Christine, David M. Kofler, Raymund Buhmann, John Strehl, Raymonde Busch, Michael Hallek, and Clemens-Martin Wendtner. "High Incidence of Translocations in CLL: A New Prognostic Marker for Infavorable Survival Outcome." Blood 104, no. 11 (November 16, 2004): 17. http://dx.doi.org/10.1182/blood.v104.11.17.17.
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Abstract BACKGROUND: Conventional metaphase cytogenetics underestimates the frequency of specific chromosome aberrations in B-CLL due to the low in vitro proliferative activity of CLL cells. We could recently show that stimulation of CLL cells with CD40 ligand (CD40L) induced cell cycle progression and increased the frequency of metaphases of CLL cells, which are then suitable for chromosome banding. In the present study we compared this new technique, CD40L-enhanced cytogenetics (CEC) with molecularcytogenetic data obtained by fluorescence in situ hybridization (FISH) on CLL cells. Methods: Blood samples were obtained from 95 CLL patients (Binet A: 31%, Binet B: 30%, Binet C: 39%) and subjected to simultaneous analysis by CEC and FISH. 56% of patients were previously untreated, while 44% of patients received at least one course of chemotherapy prior to the study. RESULTS: By FISH, 80% of analysed samples revealed aberrations like deletion of chromosome 11, 13 or 17 or trisomy 12. By CEC, chromosomal aberrations (range 0 to 14; median: 1) were detected in 90% of samples involving all chromosomes except the X chromosome. Importantly, a high incidence of balanced and unbalanced translocations were seen in 33 patients (35%) while 70% of the breakpoints involved were recurring. Median treatment-free survival (TFS) was significantly shorter for patients with translocations P< .0001). For patients with unbalanced translocations, overall survival was also significantly (decreased P= .0007). 25% of patients with 13q deletion as single aberration in FISH analysis additionally showed translocations (by CEC. These patients had a significantly shorter TFS compared to patients with 13q deletion as true sole aberration (median TFS: 36 mo vs. 132 mo; P= .0004). This was also true for patients with deletion of 11q. Patients with 11q- and translocations had a significant shorter TFS than patients with 11q- without translocations (median TFS: 13 mo vs. 48 mo; P= .011). All patients with 17p deletion showed translocations. In order to exclude the possibility that cytogenetic aberrations occurred as a possible treatment-associated secondary event, in a second analysis only patients who were untreated at the time of cytogenetic analysis were evaluated. In 22% of untreated patients translocations were detected and again they showed significantly lower TFS rates compared to patients without translocations (median TFS: 26 mo vs. 109 mo; P = .0128). In a multivariate analysis including Binet stage, presence of a complex karyotype (≥ 3 chromosomal aberrations), CD38 expression, 11q- and 17p-, the occurance of translocations proved to be the prognostic marker with the highest impact for an infavorable clinical outcome P< .001). CONCLUSION: Taken together, CEC is able to detect new chromosomal aberrations in CLL and enables a risk assessment for CLL patients based on the incidence of translocations otherwise indetectable by FISH or conventional metaphase cytogenetics.
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Miklasevics, Edvins, Mikko Kupila, Dagnija Kalniete, Inese Eglite, Dace Berzina, Monta Ustinova, Gunta Purkalne, and Zanda Daneberga. "Chromosomal Aberration in Colorectal Cancer Family." Acta Chirurgica Latviensis 15, no. 1 (April 1, 2015): 8–11. http://dx.doi.org/10.1515/chilat-2016-0002.
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Summary Introduction. Lynch syndrome, previously more commonly known as hereditary nonpolyposis colorectal cancer, is a hereditary cancer syndrome with an autosomal dominant inheritance pattern. Usually it is caused by mutations the MMR genes. In 20 - 25% of cases patients are not found to have mutations in any of these genes. Chromosomal aberrations as a cause of the Lynch syndrome were examined in this study. Aim of the study. To identify chromosomal aberrations which may lead to colorectal cancer. Material and methods. Twelve patients, corresponding to either Amsterdam I/II criteria or Bethesda guidelines, which have been tested negative for mutations in Lynch genes have been karyotyped were karyotyped with SNP array chips, in order to determine if they had potentially heritable chromosomal aberrations which could be responsible for increased risk of malignancy. Results. One patient with a 14.7Mbp duplication framed by small deletions was chosen to be the most likely patient to suffer from an inherited carcinogenic chromosomal aberration. The preceding deletion was found to contain the coding region of BRE, encoding a component of the BRCA1-A complex; we believe that this deletion is the most carcinogenic component of the aberration and likely responsible for Lynch syndrome in this case. The larger duplication furthermore contained the coding regions for 83 genes, some of which have been shown to promote malignant disease when overexpressed. Conclusion. Because of the clinically grossly tolerable nature of the aberration it is possible that it was vertically transmitted and contributed to the onset of colorectal cancer in the patient and his mother and maternal aunt.
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Hahn, K. A., R. C. Richardson, E. A. Hahn, and C. L. Chrisman. "Diagnostic and Prognostic Importance of Chromosomal Aberrations Identified in 61 Dogs with Lymphosarcoma." Veterinary Pathology 31, no. 5 (September 1994): 528–40. http://dx.doi.org/10.1177/030098589403100504.
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To determine the diagnostic and/or prognostic importance of chromosomal aberrations identified in dogs with malignant (non-Hodgkin's) lymphoma, clinical stages for 61 dogs with lymphosarcoma were determined, the lymph node(s) were histopathologically graded, and the malignant tissue lymphocytes were karyotyped. The results from life table survival curve analysis demonstrated that first remission length and survival time were significantly longer in 15 of 61 (25%) dogs that had a trisomy of chromosome 13 as the primary chromosomal aberration than in those dogs (46/61, 75%) with other primary chromosomal aberrations ( P < 0.05). Sex, age, weight, histopathologic subtype and grade, World Health Organization (WHO) clinical stage, WHO and modified Karnofsky performance status, chromosomal modal number, and treatment protocol were of no prognostic importance in predicting first remission length or survival time ( P > 0.05). Multivariate analysis did not identify a significant correlation between the prognostic groups or within the various prognostic subsets ( P > 0.05). The pathogenesis of canine and human non-Hodgkin's lymphoma, as observed cytogenetically, differs.
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Bayati, Saad M. H. "In Vitro Genotoxic Effects of Sarcocystis gigantea Cystizoites Acetone Powder Extract on Sheep Lymphocytes." Iraqi Journal of Veterinary Medicine 45, no. 1 (June 27, 2021): 41–45. http://dx.doi.org/10.30539/ijvm.v45i1.1039.
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The toxin of the protozoan intracellular parasite of sheep Sarcocystis gigantea is associated with many clinical and pathological signs. The aim of the study was to investigate In Vitro various chromosomal aberrations due to sarcocystosis infection. Macrocysts of Sarcocystis gigantea were isolated from local karadi sheep, homogenized with glass Dounce homogenizer; acetone powder was prepared from it and used in various concentration to investigate the chromosomal aberration in vitro against sheep lymphocytes. The direct effects of parasite cystizoites acetone powder revealed various genotoxicity effects. These effects included chromosomal aberration (Isogap, Breaks and Dicentrics) and chromatids aberration (Gap and Deletion). It had also an effect on the mitotic index of the lymphocyte cells division. These genotoxicities were studied for the first time with in vitro technique using sheep lymphocytes. These results reflected that Sarcocystis gigantean parasite could cause structural and internal aberration in the chromosomes of their hosts.
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Nagano, Yasuhiko, Do Ha Kim, Li Zhang, Jill A. White, James C. Yao, Stanley R. Hamilton, and Asif Rashid. "Allelic alterations in pancreatic endocrine tumors identified by genome-wide single nucleotide polymorphism analysis." Endocrine-Related Cancer 14, no. 2 (June 2007): 483–92. http://dx.doi.org/10.1677/erc-06-0090.
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Pancreatic endocrine tumors (PETs) are uncommon and the genetic alterations in these indolent tumors are not well characterized. Chromosomal imbalances are frequent in tumors but PETs have not been studied by high-density single nucleotide polymorphism (SNP) array. We used genome-wide high-density SNP array analysis to detect copy number alterations using matched tumor and non-neoplastic tissue samples from 15 patients with PETs. In our study, whole or partial loss of chromosomes 1, 3, 11, 22 was present in 40, 47, 53, 40% of tumors respectively, and gain of chromosomes 5, 7, 12, 14, 17, and 20 was present in 47, 60, 47, 53, 53, and 47% of tumors respectively. One tumor had loss of heterozygosity of chromosome 3 and another of chromosome 22 without copy number alterations, suggesting uniparental disomy due to non-disjunction and deletion or to chromosomal recombination. Chromosomal aberrations of the autosomal chromosomes were correlated with chromosomal loss or gain of other chromosomes (r>0.5, P<0.5). About 60% of PETs had high allelic imbalances (AI) defined by more than four chromosomal aberrations, and 40% of tumors had low AI. The PETs with high AI were larger: the mean tumor size with high AI was 5.4 ± 3.1 cm compared with 2.3 ± 1.3 cm for low AI (P = 0.03). Our study shows that genome-wide allelotyping is a powerful new tool for the analysis of AI in PETs.
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Klampfl, Thorsten, Ashot Harutyunyan, Tiina Berg, Bettina Gisslinger, Francesco Passamonti, Elisa Rumi, Daniela Pietra, et al. "Chromosomal Aberration Network In Myeloproliferative Neoplasms." Blood 116, no. 21 (November 19, 2010): 318. http://dx.doi.org/10.1182/blood.v116.21.318.318.
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Abstract Abstract 318 The classical myeloproliferative neoplasms (MPNs) comprise of three entities: polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). Despite distinct phenotypic features of MPN entities they share characteristics like clonal hematopoiesis, risk for thrombosis and bleeding and tendency to transform to secondary acute myeloid leukemia (post-MPN AML). In order to investigate the genetic lesions associated with MPN a large single-center cohort of 311 MPN patients was analyzed for chromosomal aberrations using high resolution Affymetrix SNP 6.0 arrays. The cohort included 150 patients with PV, 90 with ET, 68 with PMF and 3 with post-MPN AML. Of the 311 patients, 144 (46%) had a normal karyotype and 167 (54%) harbored 1 to 8 detectable chromosomal aberrations. We found 51 gains, 102 deletions and 143 uniparental disomies (UPDs). A total of 13 recurrent chromosomal defects (more than three events) were detected. We investigated if either the number of chromosomal aberrations in a patient or specific types of lesions associate with a certain patient group defined by clinical criteria. Chromosomal aberrations were equally distributed among the three MPN entities and only 9pUPD showed significant clustering with PV. We did not detect an association between the number of chromosomal aberrations and disease duration. Patients positive or negative for JAK2 mutations did not differ significantly in the frequency of chromosomal aberrations (except of the association of 9pUPD with JAK2 positive MPN). Patients with complex karyotype were significantly older than patients with normal karyotype (P<0.001). Transformation to post-MPN AML is an important complication in MPN. To investigate associations between chromosomal changes and transformation, we included additional 19 post-MPN AML patients from another center into the study (total N=22). Patients in the post-MPN AML group harbored significantly more chromosomal lesions (P<0.001). Recurrent aberrations of chromosomes 1q, 7p, 7q, 5q, and 3q strongly associated with post-MPN AML. When we reviewed the clinical data of patients in chronic phase MPN harboring the leukemia-associated aberrations, they showed features of disease progression, and some transformed to AML at a later follow-up. We were able to map a common deleted region (CDR) on chromosome 4 to the tet oncogene family member 2 (TET2), a gene frequently deleted in myeloid disorders. On chromosome 7p we mapped a CDR to the Ikaros transcription factor (IKZF1) and a 7q CDR mapped to a novel putative tumor suppressor, the cut-like homeobox 1 gene (CUX1). Interestingly, in one patient who carried a UPD of chromosome 7q we did not detect a mutation in the CUX1 gene but an R288Q mutation was found in the EZH2 gene. Chromosome 7 aberrations in our cohort were strongly linked to post-MPN AML. Our results show that at least three chromosome 7 genes (IKZF1, CUX1, and EZH2) are relevant in leukemic transformation. In addition to chromosome 7, we found gains of chromosome 1q equally relevant in post-MPN AML. We mapped the common 1q amplification to a 3.5 Mbp region that contained the MDM4 gene. Mdm4 is a known negative regulator of p53 and was frequently shown amplified in various cancers. This result prompted us to investigate the relevance of the p53 pathway in post-MPN AML and we sequenced TP53 in all 22 leukemic patients and found mutations in 6 cases (27.3%). Interestingly, none of the patients with TP53 mutation carried an MDM4 amplification. Taken together, 10 out of 22 post-MPN AML cases (45.5%) had evidence of a p53-related defect. To gain deeper insight into the pathways involved in transformation to post-MPN AML we sequenced genes commonly affected in de novo AML, and found two patients with mutations in FLT3, two patients with RUNX1 mutations, two patients with either IDH1 or IDH2 mutations. We conclude that lesions known to play an important role in de novo AML are present only in a fraction of post-MPN AML patients. In this study we show that aberrations of the p53 pathway together with the chromosome 7 lesions affecting IKZF1 and CUX1 are present in 64% of all post-MPN AML patients. Our data give insight into the genetic complexity and heterogeneity of MPN patients in chronic phase as well as in post-MPN AML. The marked genetic heterogeneity of MPN patients will render targeted therapies challenging and underlines the requirement of personalized treatments. Disclosures: No relevant conflicts of interest to declare.
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Craddock, Nick, and Mike Owen. "Chromosomal Aberrations and Bipolar Affective Disorder." British Journal of Psychiatry 164, no. 4 (April 1994): 507–12. http://dx.doi.org/10.1192/bjp.164.4.507.
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Chromosomal abnormalities associated with bipolar disorder may help in the localisation of susceptibility genes for bipolar illness by pinpointing ‘candidate’ regions of the genome for further study using molecular genetic methods. We review descriptions of chromosomal abnormalities in association with bipolar and related affective disorders and evaluate their relevance for localising susceptibility genes for bipolar disorder, using standardised criteria. We found 28 reports. We identified four genomic regions of potential interest: 11q21-25; 15q11-13; chromosome 21; Xq28. It is important that clinicians are able to recognise patients who may have chromosome abnormalities which could help in the localisation of susceptibility genes for psychiatric disorders. We suggest referral for specialist investigation and karyotyping, to a psychiatric genetics research group, of any patient with functional psychosis and one or more of the following: (a) a strong family history of functional psychosis; (b) mental retardation; (c) another disease known to be caused by a single gene; or (d) congenital abnormalities.
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Bassett, A. S. "Chromosomal aberrations and schizophrenia." Schizophrenia Research 4, no. 3 (May 1991): 248–49. http://dx.doi.org/10.1016/0920-9964(91)90092-6.
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Holečková, Beáta, Viera Schwarzbacherová, Martina Galdíková, Simona Koleničová, Jana Halušková, Jana Staničová, Valéria Verebová, and Annamária Jutková. "Chromosomal Aberrations in Cattle." Genes 12, no. 9 (August 27, 2021): 1330. http://dx.doi.org/10.3390/genes12091330.
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Chromosomal aberrations and their mechanisms have been studied for many years in livestock. In cattle, chromosomal abnormalities are often associated with serious reproduction-related problems, such as infertility of carriers and early mortality of embryos. In the present work, we review the mechanisms and consequences of the most important bovine chromosomal aberrations: Robertsonian translocations and reciprocal translocations. We also discuss the application of bovine cell cultures in genotoxicity studies.
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Heerema, Nyla A., Gerard Lozanski, Thomas S. Lin, Molly Moran, Michael R. Grever, and John C. Byrd. "Cytogenetic Studies of 539 Chronic Lymphocytic Leukemia (CLL) Patients." Blood 106, no. 11 (November 16, 2005): 1192. http://dx.doi.org/10.1182/blood.v106.11.1192.1192.
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Abstract Previous banded metaphase cytogenetic studies of CLL identified deletions of 13q, 11q, 17p and 6q and trisomy 12 as recurring aberrations; all except del(6q) have well-recognized prognostic significance. The association of other cytogenetic abnormalities with these recurring aberrations has not been previously described. To more completely characterize our patients with CLL, we performed banded metaphase cytogenetics and fluorescence in situ hybridization (FISH) on 539 patients with previously untreated as well as relapsed CLL. By banded metaphase analysis 236 cases were abnormal, 282 were normal (≥20 metaphases and no abnormal clone identified) and 21 were culture failures. Of the 236 abnormal cases, 30 had a sole numerical sex chromosome abnormality, which may not represent the malignant clone. 89 cases had complex karyotypes (≥ 3 unrelated abnormalities), and 147 had simple abnormalities. Losses (451 total, 116 whole chromosome, 47 of which were sex chromosomes, and 335 partial losses) were much more common than gains (132 total, 110 whole chromosome, 68 +12, 13 +X or Y, only 29 other whole chromosome gains, and 22 partial chromosome gains). 130 balanced rearrangements occurred; most frequently involving chromosomes 14 and 1 (15 and 14 balanced rearrangements, respectively). As previously reported, +12, del(13q), del(11q), del(17p) and del(6q) occurred frequently (34.3%, 14.4%, 16.5%, 22.9%, and 10.2% of cases, respectively). Other frequent losses involved 14q, 9p, 3p and 18p (8.5%, 6.8%, 6.4% and 5.9% of cases, respectively). Partial chromosome losses usually resulted from apparent unbalanced translocations, suggesting frequent non-reciprocal interchromosomal rearrangements that may represent a unique form of chromosomal instability. We recently have begun examining the clinical significance of secondary abnormalities occurring with common aberrations in CLL. Of interest, all patients with t(14;18)(q32;q21) and 7 of 10 patients with trisomy 18 also had trisomy 12. All 4 patients with t(14;18) CLL had atypical immunophenotypes with only one developing symptomatic disease requiring therapy. A similar atypical immunophentype was found in 5 of 7 pts with co-existent trisomy 12 and 18, and only one of these patients has progressed to require treatment. In contrast, 36 of the remaining 57 pts with trisomy 12 have developed progressive disease requiring therapy. Overall, our studies show that multiple chromosomal aberrations in addition to those commonly reported occur in CLL. Chromosomal losses are more common than gains, and unbalanced rearrangements are more frequent than balanced rearrangements. The unbalanced rearrangements are frequently interchromosomal and may indicate a unique type of chromosomal instability. Unlike the other common cytogenetic aberrations in CLL, trisomy 12 appears to be associated with secondary aberrations including t(14;18) and trisomy 18 that may define a different more favorable clinical pathologic history than observed in trisomy 12 patients without these secondary aberrations.
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Saini, Saraswati, Inderpreet Kaur, and Jatinder Kaur Katnoria. "Sorption technique as a tool for reduction of genotoxicity." Toxicology and Industrial Health 34, no. 12 (November 1, 2018): 898–907. http://dx.doi.org/10.1177/0748233718803018.
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In the present study, the Allium cepa root chromosomal aberration assay was used to determine the genotoxic effects of copper and cadmium ions solutions before and after sorption processes. The sorption process was carried out using unmodified Dendrocalamus strictus charcoal powder, nitrilotriacetic acid (NTA)-modified D. strictus charcoal powder, and Saccharomyces cerevisiae. The frequency of total chromosomal aberrations was observed to be 24.30–45.13% for copper and 13.16–45.14% for cadmium at different concentrations (1–500 mg/l) before the sorption process. Both metal ions solutions resulted in significant reduction of chromosomal aberrations after all the modes of the sorption processes. However, the order of reduction of percentage chromosomal aberrations for copper and cadmium solutions was found to be 45.29–70.04% and 47.80–84.57%, respectively (NTA-modified D. strictus charcoal powder); >44.53–54.32% and 37.10–79.40%, respectively (unmodified D. strictus charcoal powder); >15.59–48.51% and 13.63–21.50%, respectively ( S. cerevisiae).
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Nazarenko, M. M. "The influence of radio-mimetic chemical mutagen on the chromosomal complex of winter wheat cells." Regulatory Mechanisms in Biosystems 8, no. 2 (May 7, 2017): 283–86. http://dx.doi.org/10.15421/021744.
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In this article we report the results of our investigation of cytogenetic parameters of changes in the chromosomal complex of new Ukrainian winter wheat varieties and some relationships between values of cytological indexes and different concentrations of DAB (1,4-bis-diazoacetyl butane). Analysis of chromosomal aberrations following mutagenic action of any kind of mutagen by the anaphase method is one of the most widely investigated and most precise methods which can be used to determine the fact of mutagenic action on plants and identify the nature of the mutagen. We combined in our investigation sensitivity of genotype to mutagen using cytological analysis of mutagen treated wheat populations with the corresponding different varieties by breeding methods to reveal their connections and differences, specific sensitivity to mutagenic action on the cell level. Dry seeds of 7 varieties and 1 line of winter wheat were subjected to DAB in 0.1% and 0.2% concentration, which is standard practice for mutation breeding of winter wheat. We investigated rates and spectra of chromosomal aberrations in the cells of the primary root tips of winter wheat during mitosis. The coefficient of correlations between the rate of chromosomal aberrations and the concentration of DAB was at the level 0.6%. Fragments/bridges ratio is a clear and sufficient index for determining the nature of the mutagen agent. We distinguished the following types of chromosomal rearrangements: chromatid and chromosome bridges, single and double fragments, micronuclei, and lagging chromosomes. Investigation of DAB action confirmed the reliability of the fragments-bridges ratio (prevalence of fragments over bridges for chemical mutagens and vice versa for gamma-rays) for identification of the nature of the mutagen. Complicated (or combined) aberrations, micronucleus, lagging chromosomes were not observed for some varieties under DAB action. Genotypes selected after action of chemical mutagens are less sensitive to recurrent mutagenesis with chemical mutagens.
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Ćatović, Amra, and Fikreta Tanacković. "Biological Dosimetry - Cytogenetics Findings At Persons Occupationally Exposed To Ionizing Radiation." Bosnian Journal of Basic Medical Sciences 6, no. 2 (May 20, 2006): 63–66. http://dx.doi.org/10.17305/bjbms.2006.3175.
Full textAbstract:
A large number of physical and chemical agents are capable to course chromosomal aberrations. Ionizing radiation is frequent and well known course of chromosomal aberrations. If deoxyribonucleic acid (DNA) is irradiated before synthesis chromosomal-type aberrations are caused. Chromatid-type aberrations are results of DNA damages occurred during or after synthesis. Some of these changes could exist at patients several years after exposition. Biological dosimetry-cytogenetics analysis of persons occupational exposed to ionizing radiation in Federation of Bosnia and Herzegovina have been carried out in "Center for Human Genetics" of Medical Faculty in Sarajevo. In this study we have evaluated cytogenetics findings of persons employed in a zone of radiation. Cytogenetics findings have been demonstrated in allowed limit in 154 (81.1%) examinees, and cytogenetics findings were out of normal values in 36 (18.9%) examinees. The majorities who have been employed in a zone of ionizing radiation were in age group 40-44 (25.3%) and age group 45-49 (24.7%). Radiological technicians (35.7%) were exposed the most to ionizing radiation, than clinical nurse specialists (14.7%), radiologists (11.1), physicians (7.4%) machines technicians (6.3%), pneumologists (4.7%), orthopedists (4.2%) and scrub nurses (4.2%). Biological dosimetry-cytogenetics analysis have been carried out at 108 (56.8%) male and 82 (43.2%) female examinees. The most frequent aberration have been presented with 26.8% in the form of acentric fragments, than chromatid fragments with 21.2%, dicentric chromosomes with 19.5%, gaps with 18.7%, minutes with 12.2% and inter-arm interchanges with 1.6%.
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Glasmacher, Axel, Corinna Hahn, Andrea Juttner, Regine Schubert, Barbara Busert, Gesa Schwanitz, and Ingo G. H. Schmidt-Wolf. "Chromosome Aberrations in 130 Patients with Multiple Myeloma Detected by Interphase FISH and Their Diagnostic and Prognostic Relevance." Blood 104, no. 11 (November 16, 2004): 4938. http://dx.doi.org/10.1182/blood.v104.11.4938.4938.
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Abstract Recent publications have shown that chromosomal abnormalities in patients with leukemias play an important role with respect to therapy and prognosis. In multiple myeloma (MM) the role of specific cytogenetic changes relevant for the prognosis is still to be defined. Recent data suggest that much more patients show chromosomal aberrations than previously suspected, but differentiation between main and side lines of karyotype evolution was problematic. In the present investigation, cytogenetic analysis was performed using interphase FISH in 130 patients with multiple myeloma. For hybridization, 9 repetitive (chromosomes 3, 7, 9, 11, 15, 17, 18, X, Y) and 7 single copy probes (2x5, 13, 17, 21, 2x22) were used. Aberrations were detected in 87% of the patients. Most cases showed 1–3 aberrations. There was a correlation between the number of aberrations per patient and the tumor stage. E.g. the percentage of patients with 7–12 aberrations increased from 16% in stage II to 28% in stage III. Gains and losses of chromosomes showed significant interchromosomal differences with gains being more frequent than losses. Chromosomes 3, 5, 7, 9, 21 and 22 showed predominantly gains. Losses were found in chromsomes 13, 17, X and Y. But monosomy of sex chromosomes (average age of 63.5 years) may be in part explained by the age of the patients. For chromosomes 15 and 18 a similar number of monosomies and trisomies was found which might be caused by mitotic nondisjunction. Deletions 13q14 (28%), gain of 11q13 and translocation of IgH locus 14q32 (79%) are specific aberrations detected in 39 patients analysed with specific DNA probes of the relevant loci. All three aberrations led to modified survival times of the patients. Summarizing our results in 130 patients with MM, we found that the number of numerical chromosomal aberrations as well as selected structural aberrations proved to be of diagnostic and prognostic relevance.
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Mušák, Ludovít, Veronika Poláková, Erika Halašová, Oto Osina, Ludmila Vodičková, Janka Buchancová, Henrieta Hudečková, and Pavel Vodička. "Effect of occupational exposure to cytostatics and nucleotide excision repair polymorphism on chromosomal aberrations frequency." Interdisciplinary Toxicology 2, no. 1 (March 1, 2009): 13–17. http://dx.doi.org/10.2478/v10102-009-0002-6.
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Effect of occupational exposure to cytostatics and nucleotide excision repair polymorphism on chromosomal aberrations frequencyAuthors evaluated the incidence of total chromosomal aberrations (CA) and their types - chromatid-type (CTA) and chromosome-type (CSA) in peripheral blood lymphocytes from 72 oncologic unit's workers occupationally exposed to cytostatics in relationship to polymorphisms of DNA repair genesXPD, XPGandXPC. The cytogenetic analysis was used for determination of chromosomal aberrations frequency and PCR-RFLP method for polymorphisms of genes. Statistically higher frequency of total CA was detected in exposed group as compared to control (1.90±1.34% vs. 1.26±0.93%; Mann-Whitney U-test,p=0.001). There was not detected any difference between CTA and CSA (0.92±1.04% vs. 0.98±1.17%). Similarly, in genesXPDexon 23 andXPCexon 15 wasn't detected any difference neither in total chromosomal aberrations nor in CTA and CSA types. Statistically significant decrease of total chromosomal aberrations and CTA-type with presence of variant allele C was detected in geneXPGexon 15. Authors pointed out the importance of individual susceptibility factors in evaluation of effects of genotoxic agents, in that event, when the concentration does not meet the occupational exposure limit.
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Aouatif, Chentouf, Ph Looten, M. V. S. Parvathi, S. Raja Ganesh, and V. Paranthaman. "Genotoxicological Evaluation of NUTRALYS Pea Protein Isolate." ISRN Toxicology 2013 (February 27, 2013): 1–6. http://dx.doi.org/10.1155/2013/817353.
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NUTRALYS Pea Protein Isolate, a protein supplement, is a high-quality source of protein which is primarily emulsifying functional protein. We evaluated the genotoxic potential of NUTRALYS isolated from dry yellow pea, using three established genotoxicity tests (AMES test in vitro chromosomal aberration test, and in vivo micronucleus test) employing OECD guidelines under GLP conditions. In the bacterial reverse mutation test, NUTRALYS did not show positive responses in strains detecting point and frame shift mutations. In the chromosomal aberration test, NUTRALYS did not induce chromosome aberrations in the presence and absence of metabolic activation. In the bone marrow micronucleus test, NUTRALYS did not induce significant increases of micronucleated immature (polychromatic) erythrocytes in bone marrow of test animals.
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Antunes, Lusânia Maria Greggi, and Catarina Satie Takahashi. "Olive oil protects against chromosomal aberrations induced by doxorubicin in wistar rat bone marrow cells." Genetics and Molecular Biology 22, no. 2 (June 1999): 223–27. http://dx.doi.org/10.1590/s1415-47571999000200015.
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There is considerable interest in identifying dietary compounds which have the capacity to protect against chromosomal aberrations induced by antitumor agents. Fatty acids and their constituents are able to act as free radical scavengers. Doxorubicin (DXR) is an important chemotherapeutic agent, that also induces chromosome aberrations. Rat bone marrow cells treated simultaneously with olive oil (10 ml/kg body weight) and DXR (90 mg/kg body weight) developed significantly fewer chromosomal aberrations and abnormal metaphases than those treated with DXR alone.
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Sinthuwiwat, Thivaratana, Phanasit Poowasanpetch, Angsana Wongngamrungroj, Kamonwan Soonklang, Somying Promso, Chirayu Auewarakul, and Chintana Tocharoentanaphol. "Association of MTHFR Polymorphisms and Chromosomal Abnormalities in Leukemia." Disease Markers 32, no. 2 (2012): 115–21. http://dx.doi.org/10.1155/2012/292507.
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Genetic variation in MTHFR gene might explain the interindividual differences in the reduction of DNA repaired and the increase of chromosome breakage and damage. Nowadays, chromosomal rearrangement is recognized as a major cause of lymphoid malignancies. In addition, the association of MTHFR polymorphisms with aneuploidy was found in several studies, making the MTHFR gene as a good candidate for leukemia etiology. Therefore, in this study, we investigated the common sequence variation, 677C>T and 1298A>C in the MTHFR gene of 350 fixed cell specimens archived after chromosome analysis. The distribution of the MTHFR polymorphisms frequency was compared in leukemic patients with structural chromosome abnormality and chromosome aneuploidy, as well as in those with no evidence of chromosome abnormalities. We observed a significant decrease in the distribution of T allele in 677C>T polymorphisms among patients with chromosomal abnormalities including both structural aberration and aneuploidy. The same significance result also found in patients with structural aberration when compare with the normal karyotype patients. Suggesting that polymorphism in the MTHFR gene was involved in chromosome abnormalities of leukemia. However, further investigation on the correlation with the specific types of chromosomal aberrations is needed.
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Stupáková, K., M. Galdíková, V. Schwarzbacherová, and B. Holečková. "Analysis of Chromosomal Damage Caused by Acetamiprid." Folia Veterinaria 63, no. 2 (June 1, 2019): 25–29. http://dx.doi.org/10.2478/fv-2019-0015.
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Abstract Different chemicals can have genotoxic effects on the body, as confirmed by chromosome damage detection. Using conventional cytogenetic analysis and fluorescence in situ hybridization, we tested the extent of chromosome damage caused by the acetamiprid-based insecticide Mospilan 20SP on bovine peripheral blood lymphocytes at concentrations of, 2.5, 5, 25 and 50 µg.ml−1 after a 24 h incubation period. During the experiment, the presence of unstable aberrations—chromosomal and chromatid breaks and gaps—were detected by conventional cyto-genetic analysis. With increasing insecticide concentrations, we observed a statistically significant increase in chromosome damage frequency after 24 hours of exposure. Fluorescence in situ hybridization was used to detect stable structural aberrations; whole-chromosome painting probes for bovine chromosomes 1 and 7 (BTA 1 and BTA 7) were used for this purpose. As a result of exposure to the insecticide, neither BTA 1/BTA 7 translocations nor other types of translocations were observed.
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Journal, Baghdad Science. "Chromosomal aberrations and N-ras activation in human larynx carcinoma cell line Hep-2." Baghdad Science Journal 5, no. 3 (September 7, 2008): 346–52. http://dx.doi.org/10.21123/bsj.5.3.346-352.
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In the present study, cytogenetic and molecular techniques were conducted to detect the chromosomal aneuploidy and the involvement of N and H genes in squamous larynx carcinoma cell line Hep-2.Our results showed that numerical and structural abnormalities were involved in larynx cancer Hep-2.The total number of chromosomes ranging from tripolyploidy in passage187to more than that in passage207.The more frequent chromosomes involved in numerical aberrations were chromosomes1,7,16,17 and 18. Structural chromosomal aberrations were also detected.Deletion of short arm was detected in chromosome 1(del 1p) and the long arm of chromosome 1(del 1q)and 6(del 6q).Gaining on short arms were also recorded in chromosomes 3(3p+) and 12(12p+).At the molecular level,one allele of N-ras proto-oncogene was found deleted in the location 61 in passage 187 and complete deletion of both locations in passage 207.These findings reflex a great genomic instability in the the tumor model used in this study. Also the results confirmed the multistages theory in cancer arising.
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Domina, Emiliia, and Olha Hrinchenko. "Biological features of blood lymphocytes of the primary patients with endometrial cancer." ScienceRise: Biological Science, no. 1(26) (March 31, 2021): 4–9. http://dx.doi.org/10.15587/2519-8025.2021.227335.
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The aim: to examine the radiosensitivity of chromosomes of T-lymphocytes in the blood of primary patients with endometrial cancer depending on the radiation dose. It was expected that the investigations would reveal a cytogenetic parameter as a predictor of radiosensitivity in non-malignant cells of patients exposed to curative irradiation.
Materials and methods. Blood samples from 20 primary patients and 30 conditionally healthy donors were examined. Peripheral blood T-lymphocytes culture test system with metaphase chromosome aberration analysis was used. X-ray test-irradiation was performed at G0-stage of the cell cycle in the dose range of 0.5–3.0 Gy.
Results. It was shown that the spontaneous level of chromosome aberrations in lymphocytes of primary patients before anti-tumour therapy is 7,82±0,33 aberrations/100 metaphases. This is more than 2-fold higher than the upper limit of average population index and approximately 6-fold higher than the data of own control. In our study during X-ray irradiation of cells cultures of patients, it was found for the first time that the total frequency of radiation-induced chromosome aberrations obeys the classical linear quadratic dose dependence with a predominance of linear component values; the frequency of radiation markers – also linear quadratic dose dependence, but with a predominance of quadratic component.
Conclusions. High specificity of T-lymphocyte chromosomes to exposure to ionizing radiation as well as strict dependence of chromosome aberration yield on exposure dose justify their use as predictors of radiosensitivity of healthy cells from the tumour environment. The revealed dependences of induction of chromosomal damage in T-lymphocytes of patients with endometrial cancer prove the need for a personalized approach to plan the course of radiation therapy
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Chakraborty, Sujata, Jeremy M. Stark, Can-Lan Sun, Hardik Modi, WenYong Chen, Timothy R. O'Connor, Stephen J. Forman, Smita Bhatia, and Ravi Bhatia. "Chronic myelogenous leukemia stem and progenitor cells demonstrate chromosomal instability related to repeated breakage-fusion-bridge cycles mediated by increased nonhomologous end joining." Blood 119, no. 26 (June 28, 2012): 6187–97. http://dx.doi.org/10.1182/blood-2011-05-352252.
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Chromosomal aberrations are an important consequence of genotoxic exposure and contribute to pathogenesis and progression of several malignancies. We investigated the susceptibility to chromosomal aberrations in chronic myelogenous leukemia (CML) progenitors after exposure to ionizing radiation. In normal progenitors, ionizing radiation induced both stable and unstable chromosomal lesions, but only stable aberrations persisted after multiple divisions. In contrast, radiation of chronic phase CML progenitors resulted in enhanced generation of unstable lesions that persisted after multiple divisions. CML progenitors demonstrated active cell cycle checkpoints and increased nonhomologous end joining DNA repair, suggesting that persistence of unstable aberrations was the result of continued generation of these lesions. CML progenitors demonstrated enhanced susceptibility to repeated cycles of chromosome damage, repair, and damage through a breakage-fusion-bridge mechanism. Perpetuation of breakage-fusion-bridge cycles in CML progenitors was mediated by classic nonhomologous end joining repair. These studies reveal a previously unrecognized mechanism of chromosomal instability in leukemia progenitors because of continued generation of unstable chromosomal lesions through repeated cycles of breakage and repair of such lesions.