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Academic literature on the topic 'Chromosome 15 – Aberrations chromosomiques'
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Journal articles on the topic "Chromosome 15 – Aberrations chromosomiques"
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Ma, Xuhui, Qing Wang, Yanzhi Wang, et al. "Chromosome aberrations induced by zebularine in triticale." Genome 59, no. 7 (2016): 485–92. http://dx.doi.org/10.1139/gen-2016-0047.
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Chromosome engineering is an important approach for generating wheat germplasm. Efficient development of chromosome aberrations will facilitate the introgression and application of alien genes in wheat. In this study, zebularine, a DNA methylation transferase inhibitor, was successfully used to induce chromosome aberrations in the octoploid triticale cultivar Jinghui#1. Dry seeds were soaked in zebularine solutions (250, 500, and 750 μmol/L) for 24 h, and the 500 μmol/L treatment was tested in three additional treatment times, i.e., 12, 36, and 48 h. All treatments induced aberrations involving wheat and rye chromosomes. Of the 920 cells observed in 67 M1 plants, 340 (37.0%) carried 817 aberrations with an average of 0.89 aberrations per cell (range: 0–12). The aberrations included probable deletions, telosomes and acentric fragments (49.0%), large segmental translocations (28.9%), small segmental translocations (17.1%), intercalary translocations (2.6%), long chromosomes that could carry more than one centromere (2.0%), and ring chromosomes (0.5%). Of 510 M2 plants analyzed, 110 (21.6%) were found to carry stable aberrations. Such aberrations included 79 with varied rye chromosome numbers, 7 with wheat and rye chromosome translocations, 15 with possible rye telosomes/deletions, and 9 with complex aberrations involving variation in rye chromosome number and wheat–rye translocations. These indicated that aberrations induced by zebularine can be steadily transmitted, suggesting that zebularine is a new efficient agent for chromosome manipulation.
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Mandahl, Nils, Charlotte Örndal, Sverre Heim, et al. "Aberrations of chromosome segment 12q13–15 characterize a subgroup of hemangiopericytomas." Cancer 71, no. 10 (1993): 3009–13. http://dx.doi.org/10.1002/1097-0142(19930515)71:10<3009::aid-cncr2820711020>3.0.co;2-y.
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Chaudhry, Asha, Preety Bhinder, Ram Kumar, and Ravneet Kaur. "Evaluation of the mutagenic potential of propoxur and methyl parathion using polytene chromosomes of Anopheles stephensi." Journal of Applied and Natural Science 4, no. 1 (2012): 79–84. http://dx.doi.org/10.31018/jans.v4i1.227.
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The mutagenicity of two pesticides, propoxur and methyl parathion was evaluated by using polytene chromosomes of Anopheles stephensi. The results were based on the frequency of various structural aberrations encountered in the polytene chromosomes of the larvae treated with LC20 of propoxur and methyl parathion separately. Propoxur induced a total of 67 aberrations as against 15 in the controls while methyl parathion induced 53 aberrations as against 13 in the controls. These aberrations were dominated by inversions, translocations, deletions, ectopic pairing, asynapses, breaks, fusions and induced puffing. The frequency of propoxur induced aberrations was highest in chromosome 3R followed by 2R, 3L, 2L and X-chromosome. Methyl parathion induced highest number of aberrations in 2R followed by 2L, 3R, 3L and X-chromosomes. This study suggests that larval polytene chromosomes are sensitive indicators of pesticide genotoxicity in which both propoxur and methyl parathion are significantly chromotoxic for the genome of a mosquito taken as an experimental insect.
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Teodorović, Radislava, Vladimir Drašković, Spomenka Đurić, Kartarina Nenadović, Milorad Mirilović, and Ljiljana Janković. "Chromosome Aberrations Produced by Mestranol in Human Lymphocyte Cultures." Acta Veterinaria 69, no. 4 (2019): 426–33. http://dx.doi.org/10.2478/acve-2019-0036.
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Abstract In this investigation, the genotoxic properties of mestranol were examined in vitro. Human lymphocyte cultures were exposed for 72 h to mestranol at concentrations of 7.5, 15 and 30 µg/g. The genotoxic effects of the chemosterilant were assessed by numerical and structural chromosome aberrations. Mestranol induced certain genotoxic effects in human lymphocytes. There was a dose-dependent significant (p<0.01) increase in the number of numerical aberrations in comparison to the control, but without significant differences (p>0.05) between the doses applied. Further, structural aberrations increased significantly (p<0.01) in the presence of mestranol, being most frequent in cultures exposed to the highest mestranol dose. The frequency of Robertsonian translocations increased significantly only in cultures treated with mestranol at concentration of 30 µg/g in comparison both with the control (p<0.01) and the lowest chemosterilant dose (p<0.01). There were significant differences (p<0.01) in the levels of chromosome gaps and fragments compared to Robertsonian translocations, whilst the frequencies between gaps and fragments were not significantly different (p>0.05).
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Glasmacher, Axel, Corinna Hahn, Andrea Juttner, et al. "Chromosome Aberrations in 130 Patients with Multiple Myeloma Detected by Interphase FISH and Their Diagnostic and Prognostic Relevance." Blood 104, no. 11 (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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Reimann-Berg, N., J. Bullerdiek, H. Escobar, and I. Nolte. "Chromosome analyses in dogs." Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 40, no. 03 (2012): 191–96. http://dx.doi.org/10.1055/s-0038-1623638.
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SummaryCytogenetics is the study of normal and abnormal chromosomes. Every species is characterized by a given number of chromosomes that can be recognized by their specific shape. The chromosomes are arranged according to standard classification schemes for the respective species. While pre-and postnatal chromosome analyses investigate the constitutional karyotype, tumor cytogenetics is focused on the detection of clonal acquired, tumor-associated chromosome aberrations. Cytogenetic investigations in dogs are of great value especially for breeders dealing with fertility problems within their pedigrees, for veterinarians and last but not least for the dog owners. Dogs and humans share a variety of genetic diseases, including cancer. Thus, the dog has become an increasingly important model for genetic diseases. However, cytogenetic analyses of canine cells are complicated by the complex karyotype of the dog. Only just 15 years ago, a standard classification scheme for the complete canine karyotype was established. For chromosome analyses of canine cells the same steps of chromosome preparation are used as in human cytogenetics.There are few reports about cytogenetic changes in non-neoplastic cells, involving predominantly the sex chromosomes. Cytogenetic analyses of different entities of canine tumors revealed that, comparable to human tumors, tumors of the dog are often characterized by clonal chromosome aberrations, which might be used as diagnostic and prognostic markers. The integration of modern techniques (molecular genetic approaches, adaptive computer programs) will facilitate and complete conventional cytogenetic studies. However, conventional cytogenetics is still non-replaceable.
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Pérez-Simón, J. A., R. Garcı́a-Sanz, M. D. Tabernero, et al. "Prognostic Value of Numerical Chromosome Aberrations in Multiple Myeloma: A FISH Analysis of 15 Different Chromosomes." Blood 91, no. 9 (1998): 3366–71. http://dx.doi.org/10.1182/blood.v91.9.3366.3366_3366_3371.
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Recent observations indicate that chromosome aberrations are important prognostic factors in patients with multiple myeloma (MM) treated with high-dose chemotherapy. Nevertheless, the inherent problems of conventional cytogenetics have hampered the systematic evaluation of this parameter in series of patients treated with conventional chemotherapy. Fluorescence in situ hybridization (FISH) analysis is an attractive alternative for evaluation of numerical chromosomal changes. In the present study, we analyze the relationship between aneuploidies of 15 different chromosomes assessed by FISH and prognosis in a series of 63 patients with MM treated with conventional chemotherapy. After a median follow-up of 61 months (range, 6 to 109), 49% of patients are still alive with a median survival of 33 months. The overall incidence of numerical chromosome abnormalities was 70%. This incidence significantly increased when seven or more chromosomes were analyzed (53 patients), reaching 81%. Trisomies of chromosomes 6, 9, and 17 were associated with prolonged survival (P = .033, P = .035, and P = .026, respectively); by contrast, overall survival (OS) was lower in cases with monosomy 13 (as assessed by deletion of Rb gene,P = .0012). From the clinical point of view, loss of Rb gene was associated with a poor performance status; low hemoglobin levels; high creatinine, C-reactive protein, and lactic dehydrogenase serum levels; high percentage of bone marrow plasma cells (BMPC); extensive bone lytic lesions; and advanced clinical stage. Other chromosome abnormalities such as trisomy of chromosome 9 and 17 were associated with good prognostic features including high hemoglobin levels, early clinical stage, β2microglobulin less than 6 μg/mL, and low percentage of BMPC. A multivariate analysis for OS showed that S-phase PC greater than 3% (P = .010) and β2microglobulin serum levels greater than 6 μg/mL (P = .024), together with monosomy of chromosome 13 (P = .031) and nontrisomy of chromosome 6 (P = .048) was the best combination of independent parameters for predicting survival in patients with MM. According to these results, chromosomal analysis is of great use in patients with MM at diagnosis to have a correct prognostic evaluation for clinical decision making.
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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 (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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Pérez-Simón, J. A., R. Garcı́a-Sanz, M. D. Tabernero, et al. "Prognostic Value of Numerical Chromosome Aberrations in Multiple Myeloma: A FISH Analysis of 15 Different Chromosomes." Blood 91, no. 9 (1998): 3366–71. http://dx.doi.org/10.1182/blood.v91.9.3366.
Full textAbstract:
Abstract Recent observations indicate that chromosome aberrations are important prognostic factors in patients with multiple myeloma (MM) treated with high-dose chemotherapy. Nevertheless, the inherent problems of conventional cytogenetics have hampered the systematic evaluation of this parameter in series of patients treated with conventional chemotherapy. Fluorescence in situ hybridization (FISH) analysis is an attractive alternative for evaluation of numerical chromosomal changes. In the present study, we analyze the relationship between aneuploidies of 15 different chromosomes assessed by FISH and prognosis in a series of 63 patients with MM treated with conventional chemotherapy. After a median follow-up of 61 months (range, 6 to 109), 49% of patients are still alive with a median survival of 33 months. The overall incidence of numerical chromosome abnormalities was 70%. This incidence significantly increased when seven or more chromosomes were analyzed (53 patients), reaching 81%. Trisomies of chromosomes 6, 9, and 17 were associated with prolonged survival (P = .033, P = .035, and P = .026, respectively); by contrast, overall survival (OS) was lower in cases with monosomy 13 (as assessed by deletion of Rb gene,P = .0012). From the clinical point of view, loss of Rb gene was associated with a poor performance status; low hemoglobin levels; high creatinine, C-reactive protein, and lactic dehydrogenase serum levels; high percentage of bone marrow plasma cells (BMPC); extensive bone lytic lesions; and advanced clinical stage. Other chromosome abnormalities such as trisomy of chromosome 9 and 17 were associated with good prognostic features including high hemoglobin levels, early clinical stage, β2microglobulin less than 6 μg/mL, and low percentage of BMPC. A multivariate analysis for OS showed that S-phase PC greater than 3% (P = .010) and β2microglobulin serum levels greater than 6 μg/mL (P = .024), together with monosomy of chromosome 13 (P = .031) and nontrisomy of chromosome 6 (P = .048) was the best combination of independent parameters for predicting survival in patients with MM. According to these results, chromosomal analysis is of great use in patients with MM at diagnosis to have a correct prognostic evaluation for clinical decision making.
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P.T., N. Bagatska, E. Mykhailova, et al. "Cytogenetic Characteristic the Patients of Both Sexes with Phobic-anxiety Disorders." European Psychiatry 41, S1 (2017): S306. http://dx.doi.org/10.1016/j.eurpsy.2017.02.200.
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Background and aimsAnxiety-phobic disorders are caused both by environmental and hereditary factors. The study was designed to determine the level of chromosomal aberrations in the peripheral blood lymphocytes (PBL) of children and adolescents of both sexes with phobic-anxiety disorders (PAD).Patients and methodsCytogenetic analysis was performed in 27 children and adolescents of both sexes with PAD, aged 9–15 years; the control group consisted of 50 healthy peers of both genders. Statistical analysis-Excel and SPSS statistics 17.0.ResultsCytogenetic analysis of patients with PAD and in healthy age-matched individuals has established normal female (46,XX) and male (46,XY) karyotypes. The frequency of the chromosomal aberrations (CA) spontaneous level in the PBL is 4.6 times higher than the CA frequency in healthy persons. In children and adolescents with the disease, the spontaneous frequency of aberrations of chromatid and chromosome types is also significantly higher than the same in healthy children and adolescents. Single acentric fragments and exchanges prevail among the chromatid–type aberrations; pair acentric fragments prevail among the chromosome–type aberrations. An increase in the frequency of the chromosome-type aberrations has been revealed in boys with PAD (1.72 vs.0.55 per100 cells in healthy boys, P < 0.001 by pair acentric fragments), in comparison with healthy boys; and the chromatid–type aberrations have been observed in girls with PAD (3.22 vs.0.94 per 100 cells in healthy girls, P < 0.001 by single acentric fragments), in comparison with healthy girls. A pronounced individual variability of CA frequency, which ranges in our patients from 2.0 to18.0 per 100 metaphase plates, has been found along with an increase in the CA level in patients with PAD.ConclusionChildren and adolescents with PAD require a careful cytogenetic analysis and the consequent therapeutic measures for genome stabilization.Disclosure of interestThe authors have not supplied their declaration of competing interest.