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Sample records for corixoidea cytogenetic characterization

  1. New contributions to the study of Corixoidea: cytogenetic characterization of three species of Sigara from Argentina and the plausible mechanisms of karyotype evolution within Nepomorpha Nuevas contribuciones al estudio de Corixoidea: caracterización citogenética de tres especies de Sigara de Argentina y los posibles mecanismos de evolución del cariotipo en Nepomorpha

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    María José Bressa

    2007-12-01

    Full Text Available Cytogenetic studies in Heteroptera contribute to the analysis of evolutionary trends within the group. Heteroptera are characterized by the possession of holokinetic chromosomes, different sex chromosome mechanisms and a pair of m chromosomes in some species. In the present work, the male karyotype and meiosis in Sigara denseconscripta (Breddin, S. chrostowskii Jaczewski, and S. rubyae (Hungerford are described. The three species share a diploid chromosome number of 2n= 24 with a pair of m chromosomes and an XY/XX sex chromosome system. With this study the chromosome number of 30 species of Corixoidea are known and the modal karyotype is 2n= 20+2m+XY in males. The available cytogenetic information in Heteroptera led us to suggest that the presence of a pair of m chromosomes and an XY/XX sex chromosome system could be considered as plesiomorphic for Nepomorpha. The absence of m chromosomes in species of Ochteroidea and Nepoidea, and the sex chromosome systems X0 and Xn0 (male in species of Corixoidea, Naucoroidea, and Nepoidea should be considered as derived characters, which arose later in evolution.Los estudios citogenéticos en Heteroptera contribuyen al análisis de las tendencias evolutivas en el taxón. Los Heteroptera se caracterizan por poseer cromosomas holocinéticos, diferentes sistemas de cromosomas sexuales y un par de cromosomas m en algunas especies. En este trabajo describimos el cariotipo y la meiosis masculina de Sigara denseconscripta (Breddin, S. chrostowskii Jaczewski y S. rubyae (Hungerford. Las tres especies tienen un número diploide de 24, con un par de cromosomas m y un sistema de cromosomas sexuales XY/XX. Con estos resultados son 30 las especies de Corixoidea estudiadas citogenéticamente y el cariotipo modal de la superfamilia es 2n= 20+2m+XY en machos. La información citogenética disponible hasta el presente en Heteroptera nos permite sugerir que la presencia de cromosomas m y cromosomas sexuales XY/XX, ser

  2. New contributions to the study of Corixoidea: cytogenetic characterization of three species of Sigara from Argentina and the plausible mechanisms of karyotype evolution within Nepomorpha

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    María José BRESSA

    2007-01-01

    Full Text Available Los estudios citogenéticos en Heteroptera contribuyen al análisis de las tendencias evolutivas en el taxón. Los Heteroptera se caracterizan por poseer cromosomas holocinéticos, diferentes sistemas de cromosomas sexuales y un par de cromosomas m en algunas especies. En este trabajo describimos el cariotipo y la meiosis masculina de Sigara denseconscripta (Breddin, S. chrostowskii Jaczewski y S. rubyae (Hungerford. Las tres especies tienen un número diploide de 24, con un par de cromosomas m y un sistema de cromosomas sexuales XY/XX. Con estos resultados son 30 las especies de Corixoidea estudiadas citogenéticamente y el cariotipo modal de la superfamilia es 2n= 20+2m+XY en machos. La información citogenética disponible hasta el presente en Heteroptera nos permite sugerir que la presencia de cromosomas m y cromosomas sexuales XY/XX, serían caracteres plesiomórficos para Nepomorpha. La ausencia de cromosomas m en especies de Nepoidea y Ochteroidea, y los sistemas de cromosomas sexuales X0 y Xn0 (en machos en especies de Corixoidea, Naucoroidea y Nepoidea, serían caracteres derivados que habrían surgido evolutivamente más tarde.

  3. New contributions to the study of Corixoidea: cytogenetic characterization of three species of Sigara from Argentina and the plausible mechanisms of karyotype evolution within Nepomorpha

    OpenAIRE

    Bressa, María José; Papeschi, Alba Graciela

    2007-01-01

    Los estudios citogenéticos en Heteroptera contribuyen al análisis de las tendencias evolutivas en el taxón. Los Heteroptera se caracterizan por poseer cromosomas holocinéticos, diferentes sistemas de cromosomas sexuales y un par de cromosomas m en algunas especies. En este trabajo describimos el cariotipo y la meiosis masculina de Sigara denseconscripta (Breddin), S. chrostowskii Jaczewski y S. rubyae (Hungerford). Las tres especies tienen un número diploide de 24, con un par de cromosomas m ...

  4. Toward Molecular Cytogenetical Characterizations in Cotton Genome

    Institute of Scientific and Technical Information of China (English)

    LING Jian; WANG Kun-bo; PENG Ren-hai; WU Qion; SONG Guo-li; LIU Fang; STELLY David

    2008-01-01

    @@ Cotton is viewed as the most important cash crop in the world,and sustains the agricultural economies of many nations by providing a sustainable fiber product for the textile industry.Due to its global economic importance,many molecular tools are being developed.Florescent in situ hybridization (FISH),which allows DNA sequences to be mapped directly on chromosomes,is stressed as one of the most powerful techniques in plant molecular cytogenetics research.

  5. Comparative molecular cytogenetic characterization of seven Deschampsia (Poaceae) species.

    Science.gov (United States)

    Amosova, Alexandra V; Bolsheva, Nadezhda L; Zoshchuk, Svyatoslav A; Twardovska, Maryana O; Yurkevich, Olga Yu; Andreev, Igor O; Samatadze, Tatiana E; Badaeva, Ekaterina D; Kunakh, Viktor A; Muravenko, Olga V

    2017-01-01

    The genus Deschampsia P. Beauv (Poaceae) involves a group of widespread polymorphic species. Some of them are highly tolerant to stressful and variable environmental conditions, and D. antarctica is one of the only two vascular plants growing in Antarctic. This species is a source of useful for selection traits and a valuable model for studying an environmental stress tolerance in plants. Genome diversity and comparative chromosomal phylogeny within the genus have not been studied yet as karyotypes of most Deschampsia species are poorly investigated. We firstly conducted a comparative molecular cytogenetic analysis of D. antarctica (Antarctic Peninsula) and related species from various localities (D. cespitosa, D. danthonioides, D. elongata, D. flexuosa (= Avenella flexuosa), D. parvula and D. sukatschewii by fluorescence in situ hybridization with 45S and 5S rDNA, DAPI-banding and sequential rapid in situ hybridization with genomic DNA of D. antarctica, D. cespitosa, and D. flexuosa. Based on patterns of distribution of the examined markers, chromosomes of the studied species were identified. Within these species, common features as well as species peculiarities in their karyotypic structure and chromosomal distribution of molecular cytogenetic markers were characterized. Different chromosomal rearrangements were detected in D. antarctica, D. flexuosa, D. elongata and D. sukatschewii. In karyotypes of D. antarctica, D. cespitosa, D. elongata and D. sukatschewii, 0-3 B chromosomes possessed distinct DAPI-bands were observed. Our findings suggest that the genome evolution of the genus Deschampsia involved polyploidy and also different chromosomal rearrangements. The obtained results will help clarify the relationships within the genus Deschampsia, and can be a basis for the further genetic and biotechnological studies as well as for selection of plants tolerant to extreme habitats.

  6. Cytogenetic characterization of Aloysia virgata Ruiz and Pavan (Verbenaceae)

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    Aline Dias Brandão; Lyderson Facio Viccini; Shirlei Maria Recco-Pimentel

    2009-01-01

    Since previous cytogenetic reports of Aloysia have only described the meiotic behavior and chromosomal number of some species, the aim of this work was to provide detailed cytogenetic description of Aloysia virgata that would contribute to the understanding of the taxonomical organization of the Verbenaceae. Aloysia virgata had a karyotype with 2n = 36 metacentric chromosomes, all with similar size. The large amount of heterochromatin seen after Giemsa staining was confirmed by C-banding. Fou...

  7. Molecular cytogenetic characterization of a human thyroid cancercell line

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz-Ulrich G.; Tuton, Tiffany B.; Ito, Yuko; Chu, LisaW.; Lu, Chung-Mei; Baumgartner, Adolf; Zitzelsberger, Horst F.; Weier,Jingly F.

    2006-01-04

    The incidence of papillary thyroid carcinoma (PTC) increases significantly after exposure of the head and neck region to ionizing radiation, yet we know neither the steps involved in malignant transformation of thyroid epithelium nor the specific carcinogenic mode of action of radiation. Such increased tumor frequency became most evident in children after the 1986 nuclear accident in Chernobyl, Ukraine. In the twelve years following the accident, the average incidence of childhood PTCs (chPTC) increased over one hundred-fold compared to the rate of about 1 tumor incidence per 10{sup 6} children per year prior to 1986. To study the etiology of radiation-induced thyroid cancer, we formed an international consortium to investigate chromosomal changes and altered gene expression in cases of post-Chernobyl chPTC. Our approach is based on karyotyping of primary cultures established from chPTC specimens, establishment of cell lines and studies of genotype-phenotype relationships through high resolution chromosome analysis, DNA/cDNA micro-array studies, and mouse xenografts that test for tumorigenicity. Here, we report the application of fluorescence in situ hybridization (FISH)-based techniques for the molecular cytogenetic characterization of a highly tumorigenic chPTC cell line, S48TK, and its subclones. Using chromosome 9 rearrangements as an example, we describe a new approach termed ''BAC-FISH'' to rapidly delineate chromosomal breakpoints, an important step towards a better understanding of the formation of translocations and their functional consequences.

  8. Definitive molecular cytogenetic characterization of 15 colorectal cancer cell lines.

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    Knutsen, Turid; Padilla-Nash, Hesed M; Wangsa, Danny; Barenboim-Stapleton, Linda; Camps, Jordi; McNeil, Nicole; Difilippantonio, Michael J; Ried, Thomas

    2010-03-01

    In defining the genetic profiles in cancer, cytogenetically aberrant cell lines derived from primary tumors are important tools for the study of carcinogenesis. Here, we present the results of a comprehensive investigation of 15 established colorectal cancer cell lines using spectral karyotyping (SKY), fluorescence in situ hybridization, and comparative genomic hybridization (CGH). Detailed karyotypic analysis by SKY on five of the lines (P53HCT116, T84, NCI-H508, NCI-H716, and SK-CO-1) is described here for the first time. The five lines with karyotypes in the diploid range and that are characterized by defects in DNA mismatch repair had a mean of 4.8 chromosomal abnormalities per line, whereas the 10 aneuploid lines exhibited complex karyotypes and a mean of 30 chromosomal abnormalities. Of the 150 clonal translocations, only eight were balanced and none were recurrent among the lines. We also reviewed the karyotypes of 345 cases of adenocarcinoma of the large intestine listed in the Mitelman Database of Chromosome Aberrations in Cancer. The types of abnormalities observed in the cell lines reflected those seen in primary tumors: there were no recurrent translocations in either tumors or cell lines; isochromosomes were the most common recurrent abnormalities; and breakpoints occurred most frequently at the centromeric/pericentromeric and telomere regions. Of the genomic imbalances detected by array CGH, 87% correlated with chromosome aberrations observed in the SKY studies. The fact that chromosome abnormalities predominantly result in copy number changes rather than specific chromosome or gene fusions suggests that this may be the major mechanism leading to carcinogenesis in colorectal cancer.

  9. [Comparative molecular cytogenetic characterization of partial wheat-wheatgrass hybrids].

    Science.gov (United States)

    Krupin, P Yu; Divashuk, M G; Belov, V I; Glukhova, L I; Aleksandrov, O S; Karlov, G I

    2011-04-01

    The chromosomal composition of the Zernokormovaya 169, Istra 1, Ostankinskaya, and Otrastayushchaya 38 cultivars of octoploid partial wheat-wheatgrass hybrids was studied using genomic in situ hybridization (GISH). Differentiation of wheatgrass chromosomes by the distribution of the GISH signal along the chromosome was revealed. The wheatgrass chromosomes of the hybrid cultivars studied in the work differed in the type of differentiation, centromeric index, and absolute size. The cytogenetic distinctions of these chromosomes revealed by us can be used in making crosses and in studying the transmission through gametes of additional wheatgrass chromosomes.

  10. Cytogenetic characterization of Partamona cupira (Hymenoptera, Apidae by fluorochromes

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    Jefferson de Brito Marthe

    2010-01-01

    Full Text Available Four colonies of the stingless bee Partamona cupira (Hymenoptera: Apidae were cytogenetically analyzed using conventional staining and the fluorochromes CMA3 e DAPI. The females have 2n = 34 chromosomes (2K=32+2. Some females, however, presented an additional large B acrocentric chromosome, to a total of 2n = 35. Chromosome B and the chromosomal pairs 2, 9 and 10 showed CMA3+ bands, indicating an excess of CG base-pairs. A clear association was verified between the P. helleri B chromosome SCAR marker and the presence of a B chromosome in P. cupira. The data obtained suggests that B chromosomes in P. helleri and P. cupira share a common origin.

  11. Cytogenetic characterization of Aloysia virgata Ruiz and Pavan (Verbenaceae

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    Aline Dias Brandão

    2009-08-01

    Full Text Available Since previous cytogenetic reports of Aloysia have only described the meiotic behavior and chromosomal number of some species, the aim of this work was to provide detailed cytogenetic description of Aloysia virgata that would contribute to the understanding of the taxonomical organization of the Verbenaceae. Aloysia virgata had a karyotype with 2n = 36 metacentric chromosomes, all with similar size. The large amount of heterochromatin seen after Giemsa staining was confirmed by C-banding. Four nucleolar organizer regions (NORs were detected with an rDNA 45S probe in two homologous pairs and two sites of 5S rDNA located on one chromosomal pair were detected by fluorescence in situ hybridization. The interphase nucleus was classified as semi-reticulate. Meiotic analysis showed a normal chromosomal behavior, with 18 bivalents in some parts of prophase I and in metaphase I. The number of chromosomes, NORs and 5S rDNA segments did not exclude a possible polyploid origin.O gênero Aloysia reúne aproximadamente 30 espécies, porém sua circunscrição tem sido motivo de controvérsia. São poucos os estudos citogenéticos para o gênero, relatando apenas o número e o comportamento cromossômico. O presente trabalho teve como objetivo, identificar os caracteres citogenéticos de Aloysia virgata da flora brasileira que possam ser utilizados para um melhor entendimento e caracterização dos aspectos citogenéticos da família Verbenaceae, que possam contribuir para a organização taxonômica do grupo. Aloysia virgata apresentou cariótipo com 2n = 36 pequenos cromossomos, todos com o mesmo tamanho. Grande quantidade de heterocromatina foi observada com Giemsa e confirmada pela técnica de banda C. Foram detectadas quatro regiões organizadoras de nucléolo (NORs e dois sítios de rDNA 5S pela técnica de hibridação in situ fluorescente (FISH. O núcleo interfásico foi classificado como semireticulado. Foi realizada a caracterização meiótica, na

  12. Molecular cytogenetic characterization of the Amazon River dolphin Inia geoffrensis.

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    Bonifácio, Heidi L; da Silva, Vera M F; Martin, Anthony R; Feldberg, Eliana

    2012-09-01

    Classical and molecular cytogenetic (18S rDNA, telomeric sequence, and LINE-1 retrotransposon probes) studies were carried out to contribute to an understanding of the organization of repeated DNA elements in the Amazon River dolphin (boto, Inia geoffrensis). Twenty-seven specimens were examined, each presenting 2n = 44 chromosomes, the karyotype formula 12m + 14sm + 6st + 10t + XX/XY, and fundamental number (FN) = 74. C-positive heterochromatin was observed in terminal and interstitial positions, with the occurrence of polymorphism. Interstitial telomeric sequences were not observed. The nucleolar organizer region (NOR) was located at a single site on a smallest autosomal pair. LINE-1 was preferentially distributed in the euchromatin regions, with the greatest accumulation on the X chromosome. Although the karyotype structure in cetaceans is considered to be conserved, the boto karyotype demonstrated significant variations in its formula, heterochromatin distribution, and the location of the NOR compared to other cetacean species. These results contribute to knowledge of the chromosome organization in boto and to a better understanding of karyoevolution in cetaceans.

  13. Agronomic, cytogenetic, and isoenzymatic characterizations of oat somaclones

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    Lizete Augustin

    2000-09-01

    Full Text Available Immature embryo-derived somaclones regenerated from genotypes UPF 12, UPF 89S080 and UFRGS 7 were analyzed for eight agronomic traits and two enzymatic systems in order to evaluate the potential of tissue cultures to induce genetic variability in oats (Avena sativa L.. Some somaclones were also analyzed cytogenetically. Agronomic traits were evaluated in the field for all somaclones in 1993 and 1994. Bi-directional variation (P Para avaliar o potencial da cultura de tecidos na indução de variabilidade genética em aveia (Avena sativa L., somaclones regenerados de embriões imaturos dos genótipos UPF 12, UPF 89S080 e UFRGS 7 foram analisados em relação a oito características agronômicas e dois sistemas enzimáticos. A avaliação foi realizada em dois anos consecutivos, 1993 e 1994, em relação aos caracteres agronômicos. Foram observadas variações bidirecionais significativas (P < 0.05 para todos os caracteres, sendo que a freqüência média de variações detectadas em 1993, em populações somaclonais provenientes dos genótipos UPF 12 e UPF 89S080, foi de 35,2%. A maioria das alterações observadas em 1993 se mantiveram em 1994. A análise isoenzimática mostrou variações para os dois sistemas enzimáticos em quatro somaclones. A freqüência de anormalidades citogenéticas, de uma forma geral, foi baixa, porém mesmo nos somaclones onde a mesma foi alta, estas anormalidades não se refletiram na estabilidade meiótica. O processo de cultura de tecidos como gerador de variabilidade apresenta potencial como estratégia de apoio aos programas de melhoramento genético de aveia.

  14. Molecular and Cytogenetic Characterization of Wild Musa Species.

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    Jana Čížková

    Full Text Available The production of bananas is threatened by rapid spreading of various diseases and adverse environmental conditions. The preservation and characterization of banana diversity is essential for the purposes of crop improvement. The world's largest banana germplasm collection maintained at the Bioversity International Transit Centre (ITC in Belgium is continuously expanded by new accessions of edible cultivars and wild species. Detailed morphological and molecular characterization of the accessions is necessary for efficient management of the collection and utilization of banana diversity. In this work, nuclear DNA content and genomic distribution of 45S and 5S rDNA were examined in 21 diploid accessions recently added to ITC collection, representing both sections of the genus Musa. 2C DNA content in the section Musa ranged from 1.217 to 1.315 pg. Species belonging to section Callimusa had 2C DNA contents ranging from 1.390 to 1.772 pg. While the number of 45S rDNA loci was conserved in the section Musa, it was highly variable in Callimusa species. 5S rRNA gene clusters were found on two to eight chromosomes per diploid cell. The accessions were genotyped using a set of 19 microsatellite markers to establish their relationships with the remaining accessions held at ITC. Genetic diversity done by SSR genotyping platform was extended by phylogenetic analysis of ITS region. ITS sequence data supported the clustering obtained by SSR analysis for most of the accessions. High level of nucleotide diversity and presence of more than two types of ITS sequences in eight wild diploids pointed to their origin by hybridization of different genotypes. This study significantly expands the number of wild Musa species where nuclear genome size and genomic distribution of rDNA loci is known. SSR genotyping identified Musa species that are closely related to the previously characterized accessions and provided data to aid in their classification. Sequence analysis of

  15. Cytogenetic and molecular characterization of 57 individuals with the Parder-Willi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Butler, M.G.; Forrest, K.B.; Miller, L.K. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)

    1994-09-01

    Prader-Willi syndrome (PWS) is characterized by hypotonia, early childhood obesity, mental deficiency, hypogonadism and an interstitial deletion of 15q11q13 of paternal origin in 50-70% of patients. The remaining patients have either submicroscopic deletions, maternal disomy or other anomalies of chromosome 15. We have undertaken cytogenetic and molecular genetic studies of 57 individuals presenting with features consistent with PWS (28 males and 29 females; age range of 3 months to 38 years), 25 with recognizable 15q11q13 deletions (44%), 28 with normal appearing chromosomes (49%), and four patients with other chromosome 15 anomalies (7%). High resolution chromosome analysis and PCR amplification were performed utilizing 17 STRs from 15q11q13 region, quantitative Southern hybridization using seven 15q11q13 probes, and fluorescence in situ hybridization (FISH) using four 15q11q13 probes (4-3R, SNRPN, 3-21, and GABRB3). The cytogenetic deletion was paternal in all PWS families studied but the deletion varied in size in 10 patients. Parental DNA studies from 20 of 28 non-deletion patients showed maternal disomy in 7 patients and biparental inheritance in 13 non-deletion patients. In order to evaluate for submicroscopic deletions, PCR amplification with several loci in the area of the PWS minimal critical region, FISH using SNRPN and quantitative hybridization using a PCR product generated from primers of exons E and H of the SNRPN gene were undertaken on the non-deletion patients. Quantitative hybridization and FISH using SNRPN from 3 of 11 non-deletion patients (excluding maternal disomy cases) showed a submicroscopic deletion. One of these patients also showed a paternal deletion of D15S128 and MN1. We furthur support the use of both cytogenetic and molecular genetic methods for determining the genetic status of PWS patients.

  16. AGI, a previously unreported D. melanogaster {alpha}-glucosidase: Partial purification, characterization, and cytogenetic mapping

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    Parker, G.F.; Roberts, D.B. [Univ. of Oxford (United Kingdom)

    1996-04-01

    Inbred Drosophila melanogaster stocks were surveyed for {alpha}-glucosidases with nondenaturing gel electrophoresis using a fluorogenic substrate to stain the gels. The glucosidase most active under these conditions is polymorphic. We established that the polymorphism is genetic in origin and that the glucosidase was not likely to be a previously characterized enzyme. The gene encoding the enzyme was mapped cytogenetically to 33 A1-2- 33A8-B1, confirming that this is an enzyme not yet reported in D. melanogaster. The enzyme was partially purified by elution from nondenaturing gels, which enable us to establish that it has optimal activity at pH 6 and interacts most strongly with {alpha}- 1 -4 glucosides. A developmental and tissue survey suggested that this enzyme could have a purely digestive role or be involved in carbohydrate metabolism inside the organism. We propose that this enzyme is involved in either starch digestion or glycogen metabolism. 37 refs., 6 figs., 1 tab.

  17. AGI, a previously unreported D. melanogaster alpha-glucosidase: partial purification, characterization, and cytogenetic mapping.

    Science.gov (United States)

    Parker, G F; Roberts, D B

    1996-04-01

    Inbred Drosophila melanogaster stocks were surveyed for alpha-glucosidases with nondenaturing gel electrophoresis using a fluorogenic substrate to stain the gels. The glucosidase most active under these conditions is polymorphic. We established that the polymorphism is genetic in origin and that the glucosidase was not likely to be a previously characterized enzyme. The gene encoding the enzyme was mapped cytogenetically to 33 A1-2- 33A8-B1, confirming that this is an enzyme not yet reported in D. melanogaster. The enzyme was partially purified by elution from nondenaturing gels, which enabled us to establish that it has optimal activity at pH 6 and interacts most strongly with alpha-1-4 glucosides. A developmental and tissue survey suggested that this enzyme could have a purely digestive role or be involved in carbohydrate metabolism inside the organism. We propose that this enzyme is involved in either starch digestion or glycogen metabolism.

  18. Establishment and cytogenetic characterization of a cell line from a pulmonary metastasis of osteosarcoma

    National Research Council Canada - National Science Library

    Salinas-Souza, Carolina; Oliveira, Indhira Dias; de Oliveira, Renato; de Seixas Alves, Maria Teresa; Petrilli, Antonio Sergio; Toledo, Silvia Regina Caminada

    2013-01-01

    .... In metastatic patients, the most common site of metastasis is the lung. There are relatively few cell lines of metastatic OS reported in the literature and the cytogenetic aspects of OS metastases are still controversial and inconclusive...

  19. First cytogenetic characterization of a species of the arboreal ant genus Azteca Forel, 1978 (Dolichoderinae, Formicidae).

    Science.gov (United States)

    Cardoso, Danon Clemes; Cristiano, Maykon Passos; Barros, Luísa Antônia Campos; Lopes, Denilce Meneses; Pompolo, Silvia das Graças

    2012-01-01

    In this paper we present, for the first time, a detailed karyotype characterization of a species of the genus Azteca (Dolichoderinae, Formicidae). Cerebral ganglia from Azteca trigona Emery, 1893 were excised and submitted to colchicine hypotonic solution and chromosomal preparations were analyzed through conventional staining with Giemsa, C-banding, silver nitrate staining (AgNO3) and sequential base-specific fluorochromes. The analysis shows that Azteca trigona has a diploid number of 28 chromosomes. The karyotype consists of five metacentric pairs, seven acrocentric pairs and two pseudo-acrocentric pairs, which represents a karyotype formula 2K= 10M + 14A + 4A(M) and a diploid number of the arms 2AN = 38. The analysis of heterochromatin distribution revealed a positive block on distal region of the short arm of fourth metacentric pair, which was coincident with Ag-NOR band and CMA3 fluorochrome staining, meaning that rDNA sequences are interspaced by GC-rich base pairs sequences. The C-banding also marked short arms of other chromosomes, indicating centric fissions followed by heterochromatin growth. The karyotype analysis of Azteca trigona allowed the identification of cytogenetic markers that will be helpful in a difficult taxonomic group as Azteca and discussion about evolutionary aspects of the genome organization.

  20. First cytogenetic characterization of a species of the arboreal ant genus Azteca Forel, 1978 (Dolichoderinae, Formicidae

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    Danon Cardoso

    2012-03-01

    Full Text Available In this paper we present, for the first time, a detailed karyotype characterization of a species of the genus Azteca (Dolichoderinae, Formicidae. Cerebral ganglia from Azteca trigona Emery, 1893 were excised and submitted to colchicine hypotonic solution and chromosomal preparations were analyzed through conventional staining with Giemsa, C-banding, silver nitrate staining (AgNO3 and sequential base-specific fluorochromes. The analysis shows that A. trigona has a diploid number of 28 chromosomes. The karyotype consists of five metacentric pairs, seven acrocentric pairs and two pseudo-acrocentric pairs, which represents a karyotype formula 2K= 10M + 14A + 4AM and a diploid number of the arms 2AN = 38. The analysis of heterochromatin distribution revealed a positive block on distal region of the short arm of fourth metacentric pair, which was coincident with Ag-NOR band and CMA3 fluorochrome staining, meaning that rDNA sequences are interspaced by GC-rich base pairs sequences. The C-banding also marked short arms of other chromosomes, indicating centric fissions followed by heterochromatin growth. The karyotype analysis of A. trigona allowed the identification of cytogenetic markers that will be helpful in a difficult taxonomic group as Azteca and discussion about evolutionary aspects of the genome organization.

  1. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Grillo, A.; Ferrero, G.B.; Baldini, A.; Ballabio, A.; Zoghbi, H.Y.; Roth, E.J. [Baylor College of Medicine, Houston, TX (United States); Magenis, E.; Grompe, M. [Oregon Health Science Univ., Portland, OR (United States); Hulten, M. [East Birmingham Hospital, Birmingham (United Kingdom)] [and others

    1994-01-15

    The microphthalmia with linear skin defects (MLS) syndrome (MIM309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 305050) and Goltz (MIM 305600) syndromes, two X-linked dominant, male-lethal disorders. Here the authors report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter-p22.2 deletion. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X-inactivation plays an important role in determining the phenotype of the MLS syndrome. The authors propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X-inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, they cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome). 24 refs., 4 figs., 1 tab.

  2. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.

    Science.gov (United States)

    García-Santiago, Fe Amalia; Martínez-Glez, Víctor; Santos, Fernando; García-Miñaur, Sixto; Mansilla, Elena; Meneses, Antonio González; Rosell, Jordi; Granero, Ángeles Pérez; Vallespín, Elena; Fernández, Luis; Sierra, Blanca; Oliver-Bonet, María; Palomares, María; de Torres, María Luisa; Mori, María Ángeles; Nevado, Julián; Heath, Karen E; Delicado, Alicia; Lapunzina, Pablo

    2015-05-01

    Inverted duplication 8p associated with deletion of the short arms of chromosome 8 (invdupdel[8p]) is a relatively uncommon complex chromosomal rearrangement, with an estimated incidence of 1 in 10,000-30,000 live borns. The chromosomal rearrangement consists of a deletion of the telomeric region (8p23-pter) and an inverted duplication of the 8p11.2-p22 region. Clinical manifestations of this disorder include severe to moderate intellectual disability and characteristic facial features. In most cases, there are also CNS associated malformations and congenital heart defects. In this work, we present the cytogenetic and molecular characterization of seven children with invdupdel(8p) rearrangements. Subsequently, we have carried out genotype-phenotype correlations in these seven patients. The majority of our patients carry a similar deletion but different size of duplications; the latter probably explaining the phenotypic variability among them. We recommend that complete clinical evaluation and detailed chromosomal microarray studies should be undertaken, enabling appropriate genetic counseling. © 2015 Wiley Periodicals, Inc.

  3. A comparative study of phytohaemagglutinin and extract of Phaseolus vulgaris seeds by characterization and cytogenetics

    Science.gov (United States)

    Badari Nath, A. R. S.; Sivaramakrishna, A.; Marimuthu, K. M.; Saraswathy, Radha

    2015-01-01

    Phytohaemagglutinin (PHA) is a lectin obtained from Phaseolus vulgaris (red kidney beans), that acts as a mitogen in human leucocyte culture and is commercially available from Gibco®. This PHA (Gibco®) was found to be very expensive, hence other inexpensive sources that can be used in all kinds of cytogenetics labs (rich and poor), were attempted. One such successful attempt was PHA extract from seeds of P.vulgaris. This paper details the methodology of extraction and application of PHA from seeds of P.vulgaris. Attempts has been made to identify the chemical and physical properties of the products in the extract, analyzed by various spectroscopic and analytical techniques. The analysis clearly indicates that the product from Phaseolus seeds extract was found to be similar to the commercially available PHA (Gibco®) in the cytogenetic study of human leucocyte cultures. The present study enforces the possible utility of the plant extract directly for human leucocyte cultures.

  4. Lymphoma cytogenetics.

    Science.gov (United States)

    Dave, Bhavana J; Nelson, Marilu; Sanger, Warren G

    2011-12-01

    Lymphomas are a heterogeneous group of neoplasms with distinct morphologic, immunologic, and cytogenetic characteristics. Overlapping morphologic and immunophenotypic features often makes accurate diagnosis difficult. Cytogenetics helps simplify the diagnostic complexities presented in transforming and progressive lymphoid malignancies. Genetic studies using technical advances such as fluorescence in situ hybridization and the newer approaches of array comparative genomic hybridization and gene expression profiling play a critical and often defining role in the diagnosis, progression, prognosis, and therapeutic stratification. This article reviews characteristic cytogenetic abnormalities in specific subtypes of lymphomas at diagnosis, disease progression, and prognosis.

  5. Cytogenetic characterization of Rhomboplites aurorubens and Ocyurus chrysurus, two monotypic genera of Lutjaninae from Cubagua Island, Venezuela, with a review of the cytogenetics of Lutjanidae (Teleostei: Perciformes

    Directory of Open Access Journals (Sweden)

    Mauro Nirchio

    Full Text Available Lutjanidae, commonly known as snappers, includes 105 species, grouped in four subfamilies. In spite of the high number of species and of its worldwide distribution, the family has been little investigated and the phylogenetic relationships among some of its genera and species are still cause for debate. Only a small number of the species has been cytogenetically analysed. This study reports the first description of the karyotype of Rhomboplites aurorubens as well as data concerning the distribution of the constitutive heterochromatin and the location of the 18S rRNA and the 5S rRNA genes. Specimens of Ocyurus chrysurus from Venezuela were also investigated for the same cytogenetic features. Both species have a 48 uniarmed karyotype, but R. aurorubens has a single subtelocentric chromosome pair, the smallest of the chromosome complement, among the other acrocentric chromosomes. The C-positive heterochromatin is limited to the pericentromeric regions of all chromosomes. Both species show a single chromosome pair bearing the Nucleolus Organizer Regions, but NORs are differently located, in a terminal position on the short arms of the smallest chromosomes in R. aurorubens and in a paracentromeric position in a chromosome pair of large size in O. chrysurus. In O. chrysurus, the 5S rDNA gene cluster is located on a medium-sized chromosome pair, whereas in R. aurorubens it is syntenic with the 18S rDNA gene cluster on chromosome pair number 24. The obtained cytogenetic data, along with previous cytogenetic, morphological and molecular data for the family, reinforce the proposal to synonymize genus Ocyurus with Lutjanus. A review of Lutjanidae cytogenetics is also included.

  6. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.

    Science.gov (United States)

    Tan-Sindhunata, G; Castedo, S; Leegte, B; Mulder, I; vd Veen, A Y; vd Hout, A H; Wiersma, T J; van Essen, A J

    2000-05-15

    A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosome was derived from the pericentromeric region of chromosome 7. Further characterization with a YAC-probe showed the involvement of the proximal q-arm of chromosome 7. Both sibs had speech difficulties and were mildly mentally retarded whereas the mother's intelligence was at the lower end of the normal range. They all had an unusual face, characterized by a flat profile, short forehead, downslant of the palpebral fissures, high and broad nasal bridge, simply formed ears, and prognathia. This is the second report of a small supernumerary ring chromosome derived from the pericentromeric region of chromosome 7, and the described clinical phenotype differs from that delineated in the previous report.

  7. Conventional cytogenetic characterization of a new cell line, ACP01, established from a primary human gastric tumor

    Directory of Open Access Journals (Sweden)

    E.M. Lima

    2004-12-01

    Full Text Available Gastric cancer is the second most frequent type of neoplasia and also the second most important cause of death in the world. Virtually all the established cell lines of gastric neoplasia were developed in Asian countries, and western countries have contributed very little to this area. In the present study we describe the establishment of the cell line ACP01 and characterize it cytogenetically by means of in vitro immortalization. Cells were transformed from an intestinal-type gastric adenocarcinoma (T4N2M0 originating from a 48-year-old male patient. This is the first gastric adenocarcinoma cell line established in Brazil. The most powerful application of the cell line ACP01 is in the assessment of cytotoxicity. Solid tumor cell lines from different origins have been treated with several conventional and investigational anticancer drugs. The ACP01 cell line is triploid, grows as a single, non-organized layer, similar to fibroblasts, with focus formation, heterogeneous division, and a cell cycle of approximately 40 h. Chromosome 8 trisomy, present in 60% of the cells, was the most frequent cytogenetic alteration. These data lead us to propose a multifactorial triggering of gastric cancer which evolves over multiple stages involving progressive genetic changes and clonal expansion.

  8. Classical and molecular cytogenetic characterization of Agonostomus monticola, a primitive species of Mugilidae (Mugiliformes).

    Science.gov (United States)

    Nirchio, Mauro; Oliveira, Claudio; Ferreira, Irani A; Martins, Cesar; Rossi, Anna Rita; Sola, Luciana

    2009-01-01

    This study reports the first description of the karyotype of Agonostomus monticola, a species belonging to a genus which is considered to be the most primitive among living mugilid fish. Specimens from Panama and Venezuela were cytogenetically analysed by conventional chromosome banding (Ag and base-specific-fluorochrome staining, C-banding) and by fluorescent in situ hybridization (FISH). Agonostomus monticola showed a chromosome complement of 2n = 48, composed of 23 acrocentric and one subtelocentric chromosome pairs and a pericentromeric distribution of the C-positive heterochromatin in all chromosomes. Major ribosomal genes were found to be located on the short arms of the subtelocentric chromosome pair number 24 and minor ribosomal genes in a paracentromeric position of a single medium-sized chromosome pair. All these observed cytogenetic features are similar to those previously described in four representatives of two genera, Liza and Chelon, which are considered to be among the most advanced in the family. Thus, this karyotypic form might represent the plesiomorphic condition for the mullets. This hypothesis regarding the plesiomorphic condition, if confirmed, would shed new light on the previously inferred cytotaxonomic relationships for the studied species of Mugilidae, because the karyotype with 48 acrocentric chromosomes, which has been so far regarded as primitive for the family, would have to be considered as derived.

  9. Cytogenetics and characterization of microsatellite loci for a South American pioneer tree species, Croton floribundus.

    Science.gov (United States)

    Silvestrini, Milene; Pinto-Maglio, Cecília A F; Zucchi, Maria I; dos Santos, Flavio A M

    2013-12-01

    Despite the recent advances in plant population genetic studies, the lack of information regarding pedigree, ploidy level, or mode of inheritance for many polyploids can compromise the analysis of the molecular data produced. The aim of this study was to examine both microsatellite and cytogenetic characteristics of the pioneer tree Croton floribundus Spreng. (Euphorbiaceae) to test for the occurrence of polyploidy in the species and to evaluate its implications for the appropriate use of SSR markers. Seven microsatellite markers were developed and screened for 62 individuals from a semi-deciduous tropical forest in Brazil. Chromosome number, meiotic behavior, and pollen viability were evaluated from male flower buds. All SSR loci were highly polymorphic. The number of bivalents observed in meiosis n = 56 (2n = 8× = 112) and the maximum number of alleles per individual (Ni = 8) demonstrated the occurrence of polyploidy in C. floribundus. The normal meiotic pairing and the high pollen viability suggested that C. floribundus is a regular and stable polyploid, most likely an allopolyploid. The combined SSR and cytogenetic data provided new evidence on the origin and evolution of the species as well as assured the accurate use of SSR loci for population genetic studies of the polyploid pioneer species.

  10. Cytogenetic, FISH and molecular characterization of 3q27/BCL-6 rearrangements in NHL

    Energy Technology Data Exchange (ETDEWEB)

    Wiodarska, I.; Styl, M.; Mecucci, C. [Univ. of Leuven (Belgium)] [and others

    1994-09-01

    Reciprocal translocations involving the chromosomal region 3q27 and one of the immunoglobulin loci at 14q32, 2p12 or 22q11 have been identified as the third most common type of chromosomal abnormality in Non Hodgkin`s lymphomas (NHLs), in addition to t(14;18) and t(8;14). These abnormalities appeared to be strongly associated with a diffuse, large cell subtype of B-cell NHL. Recently, a t(3;14) and t(3;22) have been cloned and a new transcriptional unit at 3q27, designated BCL-5, BCL-6 or LAZ3, has been identified. The gene appears to encode a new zinc finger protein with the putative function of a transcription factor. Rearrangements of the BCL-6 gene have been detected not only in cases with a typical t(3;14), t(2;3) and t(3;22), but also in a few NHL cases carrying 3q27 translocations not involving Ig genes. We report on nine B-NHL cases with a 3q27/BCL-6 rearrangement demonstrated by cytogenetic, FISH, and Southern analysis. Cytogenetic analysis complemented by FISH studies showed the presence of a classical t(3;14) or a t(3;22) in three cases and a variety of chromosomal aberrations involving the 3q27 locus in the remaining cases. Some of these translocations were not previously identified by conventional banding analysis. In three patients chromosome painting demonstrated involvement of both chromosome at the 3q24 band. We conclude: 3q27/BCL-6 rearrangements seem not to be restricted to diffuse large cell lymphoma. We here documented 3q27/BCL-6 abnormalities in Richter syndrome and follicular lymphomas. The variety of 3q27 aberrations at cytogenetic level suggests that, in addition to immunoglobulin genes, a number of other genes spreading over the human genome may deregulate BCL-6 in lymphomas. Chromosome painting is a powerful tool to demonstrate 3q27 abnormalities, not identified by conventional banding analysis.

  11. Molecular cytogenetic characterization of the dioecious Cannabis sativa with an XY chromosome sex determination system.

    Directory of Open Access Journals (Sweden)

    Mikhail G Divashuk

    Full Text Available Hemp (Cannabis sativa L. was karyotyped using by DAPI/C-banding staining to provide chromosome measurements, and by fluorescence in situ hybridization with probes for 45 rDNA (pTa71, 5S rDNA (pCT4.2, a subtelomeric repeat (CS-1 and the Arabidopsis telomere probes. The karyotype has 18 autosomes plus a sex chromosome pair (XX in female and XY in male plants. The autosomes are difficult to distinguish morphologically, but three pairs could be distinguished using the probes. The Y chromosome is larger than the autosomes, and carries a fully heterochromatic DAPI positive arm and CS-1 repeats only on the less intensely DAPI-stained, euchromatic arm. The X is the largest chromosome of all, and carries CS-1 subtelomeric repeats on both arms. The meiotic configuration of the sex bivalent locates a pseudoautosomal region of the Y chromosome at the end of the euchromatic CS-1-carrying arm. Our molecular cytogenetic study of the C. sativa sex chromosomes is a starting point for helping to make C. sativa a promising model to study sex chromosome evolution.

  12. Clinical cytogenetics and molecular cytogenetics

    Institute of Scientific and Technical Information of China (English)

    LI Marilyn; PINKEL Daniel

    2006-01-01

    The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

  13. Clinical cytogenetics and molecular cytogenetics.

    Science.gov (United States)

    Li, Marilyn; Pinkel, Daniel

    2006-02-01

    The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

  14. Clinical cytogenetics and molecular cytogenetics*

    OpenAIRE

    2006-01-01

    The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

  15. Molecular cytogenetics.

    Science.gov (United States)

    Carpenter, N J

    2001-09-01

    In the past decade, clinical cytogenetics has undergone remarkable advancement as molecular biology techniques have been applied to conventional chromosome analysis. The limitations of conventional banding analysis in the accurate diagnosis and interpretation of certain chromosome abnormalities have largely been overcome by these new technologies, which include fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), and multicolor FISH (M-FISH, SKY, and Rx-FISH). Clinical applications include diagnosis of microdeletion and microduplication syndromes, detection of subtelomeric rearrangements in idiopathic mental retardation, identification of marker and derivative chromosomes, prenatal diagnosis of trisomy syndromes, and gene rearrangements and gene amplification in tumors. Molecular cytogenetic methods have expanded the possibilities for precise genetic diagnoses, which are extremely important for clinical management of patients and appropriate counseling of their families.

  16. Cytogenetic examination

    OpenAIRE

    2015-01-01

    Cytogenetic examination on six normal persons, four men and two women, was carried out using a technique proposed by Dutrillaux with slight modification. Five drops of blood were taken from a peripheral vessel and was incubated on a PHA (phytohemarglutinine)-containing medium at 37°C for about 72 hours. Cell division was blocked by adding colchicine solution, an antimitotic agent, into this medium. A mixture of distilled water, magnesium chloride, hyaluronidase, and goat serum was used as hy...

  17. Cytogenetic characterization of complex karyotypes in seven established melanoma cell lines by multiplex fluorescence in situ hybridization and DAPI banding.

    Science.gov (United States)

    Schulten, Hans Jürgen; Gunawan, Bastian; Otto, Friedrich; Hassmann, René; Hallermann, Christian; Noebel, Albrecht; Füzesi, László

    2002-03-01

    We report the use of multiplex fluorescence in situ hybridization (M-FISH) to resolve chromosomal aberrations in seven established melanoma cell lines with hypotriploid to hypertetraploid complex karyotypes. By simultaneous identification of all human chromosomes in single FISH experiments using a set of 52 directly labeled, whole chromosome painting probes, cryptic chromosomal translocations and the origin of unclear chromosomal material in structural rearranged and marker chromosomes could be identified, refining the tumor karyotypes in all seven cell lines. The number of structural aberrations in each cell line assigned with combined M-FISH and DAPI banding analysis ranged from 15 to 45. Altogether, 275 breakpoints could be assigned to defined chromosomal regions or bands. The chromosome arms 1p, 6q, 7p, 9p, and 11q which are known to be nonrandomly associated with melanoma tumorigenesis, were frequently involved in chromosomal breaks and/or copy number changes. This study also demonstrated the practical usefulness of combining M-FISH with conventional cytogenetic banding techniques for the characterization of complex tumor karyotypes with massive genomic alterations.

  18. Molecular cytogenetic characterization of chromosome site-specific repetitive sequences in the Arctic lamprey (Lethenteron camtschaticum, Petromyzontidae)

    Science.gov (United States)

    Ishijima, Junko; Uno, Yoshinobu; Nunome, Mitsuo; Nishida, Chizuko; Kuraku, Shigehiro

    2017-01-01

    Abstract All extant lamprey karyotypes are characterized by almost all dot-shaped microchromosomes. To understand the molecular basis of chromosome structure in lampreys, we performed chromosome C-banding and silver staining and chromosome mapping of the 18S–28S and 5S ribosomal RNA (rRNA) genes and telomeric TTAGGG repeats in the Arctic lamprey (Lethenteron camtschaticum). In addition, we cloned chromosome site-specific repetitive DNA sequences and characterized them by nucleotide sequencing, chromosome in situ hybridization, and filter hybridization. Three types of repetitive sequences were detected; a 200-bp AT-rich repetitive sequence, LCA-EcoRIa that co-localized with the 18S–28S rRNA gene clusters of 3 chromosomal pairs; a 364-bp AT-rich LCA-EcoRIb sequence that showed homology to the EcoRI sequence family from the sea lamprey (Petromyzon marinus), which contains short repeats as centromeric motifs; and a GC-rich 702-bp LCA-ApaI sequence that was distributed on nearly all chromosomes and showed significant homology with the integrase-coding region of a Ty3/Gypsy family long terminal repeat (LTR) retrotransposon. All three repetitive sequences are highly conserved within the Petromyzontidae or within Petromyzontidae and Mordaciidae. Molecular cytogenetic characterization of these site-specific repeats showed that they may be correlated with programed genome rearrangement (LCA-EcoRIa), centromere structure and function (LCA-EcoRIb), and site-specific amplification of LTR retroelements through homogenization between non-homologous chromosomes (LCA-ApaI). PMID:28025319

  19. Molecular cytogenetic characterization of Rumex papillaris, a dioecious plant with an XX/XY(1)Y (2) sex chromosome system.

    Science.gov (United States)

    Navajas-Pérez, Rafael; Schwarzacher, Trude; Rejón, Manuel Ruiz; Garrido-Ramos, Manuel A

    2009-01-01

    Rumex papillaris Boiss, & Reut., an Iberian endemic, belongs to the section Acetosa of the genus Rumex whose main representative is R. acetosa L., a species intensively studied in relation to sex-chromosome evolution. Here, we characterize cytogenetically the chromosomal complement of R. papillaris in an effort to enhance future comparative genomic approaches and to better our understanding of sex chromosome structure in plants. Rumex papillaris, as is common in this group, is a dioecious species characterized by the presence of a multiple sex chromosome system (with females 2n = 12 + XX and males 2n = 12 + XY(1)Y(2)). Except for the X chromosome both Y chromosomes are the longest in the karyotype and appear heterochromatic due to the accumulation of at least two satellite DNA families, RAE180 and RAYSI. Each chromosome of pair VI has an additional major heterochromatin block at the distal region of the short arm. These supernumerary heterochromatic blocks are occupied by RAE730 satellite DNA family. The Y-related RAE180 family is also present in an additional minor autosomal locus. Our comparative study of the chromosomal organization of the different satellite-DNA sequences in XX/XY and XX/XY(1)Y(2) Rumex species demonstrates that of active mechanisms of heterochromatin amplification occurred and were accompanied by chromosomal rearrangements giving rise to the multiple XX/XY(1)Y(2) chromosome systems observed in Rumex. Additionally, Y(1) and Y(2) chromosomes have undergone further rearrangements leading to differential patterns of Y-heterochromatin distribution between Rumex species with multiple sex chromosome systems.

  20. Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.

    Science.gov (United States)

    Chen, Chih-Ping; Wang, Yeou-Lih; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Chen, Li-Feng; Lee, Meng-Shan; Yang, Chien-Wen; Wang, Wayseen

    2016-04-01

    We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes. A 35-year-old woman presented with a borderline-positive result of noninvasive prenatal testing for trisomy 21. She underwent amniocentesis at 18 weeks of gestation, which revealed a karyotype of 47,XY,+21(5)/46,XY(53). Repeat amniocentesis at 22 weeks of gestation revealed a karyotype of 47,XY,+21(6)/46,XY(26). Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed mosaic levels of 10% to 15% for trisomy 21. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic level of 21.7% (28/129 cells) for trisomy 21. Following genetic counseling and detailed ultrasound examination, the parents decided to continue the pregnancy. The pregnancy was carried to term, and a normal 3664-g male baby was delivered. The cord blood lymphocytes had a karyotype of 47,XY,+21(2)/46,XY(38). Postnatal interphase FISH analysis of urine detected no trisomy 21 in all 39/39 urinary cells. The neonate was phenotypically normal at age 7 months. Low-level true mosaicism for trisomy 21 can be associated with a favorable fetal outcome. aCGH and interphase FISH analyses on uncultured amniocytes are useful for rapid confirmation of low-level true mosaicism for trisomy 21 at repeated amniocentesis. Copyright © 2016. Published by Elsevier B.V.

  1. Characterization of newly established colorectal cancer cell lines: correlation between cytogenetic abnormalities and allelic deletions associated with multistep tumorigenesis

    Indian Academy of Sciences (India)

    Hans Gerdes; Abul Elahi; Quanguang Chen; Suresh C. Jhanwar

    2000-01-01

    We have established a series of 20 colorectal cancer cell lines and performed cytogenetic and RFLP analyses to show that the recurrent genetic abnormalities of chromosomes 1, 5, 17 and 18 associated with multistep tumorigenesis in colorectal cancer, and frequently detected as recurrent abnormalities in primary tumours, are also retained in long-term established cell lines. Earlier studies by us and other investigators showed that allelic losses of chromosomes 1 and 17 in primary colorectal cancers predicted poorer survival for the patients $(P = 0.03)$. We utilized the cell lines to identify specific chromosomal sites or gene(s) on chromosomes 1 and 17 which confer more aggressive phenotype. Cytogenetic deletions of chromosome 1p were detected in 14 out of the 20 (70%) cell lines, whereas allelic deletions for 1p using polymorphic markers were detected in 13 out of 18 (72%) informative cell lines for at least one polymorphic marker. We have performed Northern blotting, immunohistochemical staining (p53 mRNA, protein) and RFLP analysis using several probes including p53 and nm23. RFLP analysis using a total of seven polymorphic markers located on 17p and 17q arms showed allelic losses around the p53 locus in 16 out of the 20 cell lines (80%), four of which were losses of the p53 locus itself. In addition, seven cell lines (out of nine informative cases) also showed losses of the nm23 gene, four with concurrent losses of the p53 locus, while the remaining three were homozygous. In addition, five out of seven cell lines with nm23 deletions were derived from hepatic metastatic tumours, and one cell line was obtained from recurrent tumour. A comparison between allelic deletions of 1p and functional loss of nm23 gene revealed a close association between these two events in cell lines derived from hepatic metastasis. Following immunohistochemical staining, nine out of the twenty cell lines showed high levels (25–80%) of mutant p53, four showed intermediate levels (< 20

  2. Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype

    NARCIS (Netherlands)

    Tan-Sindhunata, G; Castedo, S; Leegte, B; Mulder, [No Value; van der Veen, AYV; van der Hout, AHV; van Essen, AJ

    2000-01-01

    A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosom

  3. The first cytogenetic characterization of atemnids: pseudoscorpions with the highest chromosome numbers (Arachnida: Pseudoscorpiones).

    Science.gov (United States)

    Sťáhlavský, F; Král, J; Harvey, M S; Haddad, C R

    2012-01-01

    The karyotypes of pseudoscorpions of the family Atemnidae (Arachnida: Pseudoscorpiones) were studied for the first time. Karyotype data for 7 species have been obtained. The diploid chromosome numbers of most species considerably exceed the numbers reported in pseudoscorpions so far, with males ranging between 65 and 143. In spite of this, the sex chromosome system of atemnids is characterized by the same features that are found in the majority of other pseudoscorpions with an X0 system; the X chromosome is metacentric and is the largest chromosome or one of the largest chromosomes of the karyotype. Male meiotic cells of Atemnus politus contain 1 or 2 autosome multivalents; most specimens had 2 multivalents. The multivalents were composed of 4, 6, 8 or 10 chromosomes. Multivalent number and structure was consistent within each of the studied individuals. The same number of chromosomes in all of the males examined suggests that multivalents are generated by reciprocal translocations. The high diversity of multivalents suggests considerable range of translocation heterozygosity in the studied population.

  4. Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.

    Science.gov (United States)

    Thibodeau, My Linh; Steinraths, Michelle; Brown, Lindsay; Zong, Zheyuan; Shomer, Naomi; Taubert, Stefan; Mungall, Karen L; Ma, Yussanne P; Mueller, Rosemary; Birol, Inanc; Lehman, Anna

    2017-08-31

    A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML. © 2017 S. Karger AG, Basel.

  5. Cytogenetic characterization and AFLP-based genetic linkage mapping for the butterfly Bicyclus anynana, covering all 28 karyotyped chromosomes.

    Directory of Open Access Journals (Sweden)

    Arjen E Van't Hof

    Full Text Available BACKGROUND: The chromosome characteristics of the butterfly Bicyclus anynana, have received little attention, despite the scientific importance of this species. This study presents the characterization of chromosomes in this species by means of cytogenetic analysis and linkage mapping. METHODOLOGY/PRINCIPAL FINDINGS: Physical genomic features in the butterfly B. anynana were examined by karyotype analysis and construction of a linkage map. Lepidoptera possess a female heterogametic W-Z sex chromosome system. The WZ-bivalent in pachytene oocytes of B. anynana consists of an abnormally small, heterochromatic W-chromosome with the Z-chromosome wrapped around it. Accordingly, the W-body in interphase nuclei is much smaller than usual in Lepidoptera. This suggests an intermediate stage in the process of secondary loss of the W-chromosome to a ZZ/Z sex determination system. Two nucleoli are present in the pachytene stage associated with an autosome and the WZ-bivalent respectively. Chromosome counts confirmed a haploid number of n = 28. Linkage mapping had to take account of absence of crossing-over in females, and of our use of a full-sib crossing design. We developed a new method to determine and exclude the non-recombinant uninformative female inherited component in offspring. The linkage map was constructed using a novel approach that uses exclusively JOINMAP-software for Lepidoptera linkage mapping. This approach simplifies the mapping procedure, avoids over-estimation of mapping distance and increases the reliability of relative marker positions. A total of 347 AFLP markers, 9 microsatellites and one single-copy nuclear gene covered all 28 chromosomes, with a mapping distance of 1354 cM. Conserved synteny of Tpi on the Z-chromosome in Lepidoptera was confirmed for B. anynana. The results are discussed in relation to other mapping studies in Lepidoptera. CONCLUSIONS/SIGNIFICANCE: This study adds to the knowledge of chromosome structure and

  6. The marriage of cytology and cytogenetics.

    Science.gov (United States)

    Dal Cin, Paola; Qian, Xiaohua; Cibas, Edmund S

    2013-06-01

    The past 20 years have witnessed extraordinary advances in the field of cytogenetics, with the discovery that a multitude of neoplasms is characterized by identifiable chromosomal changes. The ability of Cytogenetics to aid in the identification and precise classification of a variety of neoplasms has not gone unnoticed by Cytology. In particular, Cytology has recognized Cytogenetics as a welcome companion in the evaluation of soft tissue tumors, lymphomas, renal and urothelial tumors, and mesothelioma. This relationship requires a good understanding of the proper handling of specimens for optimal evaluation by Cytogenetics. The marriage of Cytology and Cytogenetics will likely grow stronger as more solid tumors (eg, salivary gland neoplasms) are discovered that harbor characteristic chromosomal abnormalities.

  7. Methodologies in cancer cytogenetics and molecular cytogenetics.

    Science.gov (United States)

    Wang, Nancy

    2002-10-30

    Various types of cytogenetic and molecular cytogenetic approaches, including conventional banding, fluorescence in situ hybridization (FISH), fiber-FISH, comparative genomic hybridization (CGH), matrix array CGH, chromosome microdissection, and microcell-mediated chromosome transfer are summarized. The rationale, advantage, and limitations of each approach are discussed with respect to research and clinical applications in human neoplasia.

  8. Evolutionary cytogenetics in salamanders.

    Science.gov (United States)

    Sessions, Stanley K

    2008-01-01

    Salamanders (Amphibia: Caudata/Urodela) have been the subject of numerous cytogenetic studies, and data on karyotypes and genome sizes are available for most groups. Salamanders show a more-or-less distinct dichotomy between families with large chromosome numbers and interspecific variation in chromosome number, relative size, and shape (i.e. position of the centromere), and those that exhibit very little variation in these karyological features. This dichotomy is the basis of a major model of karyotype evolution in salamanders involving a kind of 'karyotypic orthoselection'. Salamanders are also characterized by extremely large genomes (in terms of absolute mass of nuclear DNA) and extensive variation in genome size (and overall size of the chromosomes), which transcends variation in chromosome number and shape. The biological significance and evolution of chromosome number and shape within the karyotype is not yet understood, but genome size variation has been found to have strong phenotypic, biogeographic, and phylogenetic correlates that reveal information about the biological significance of this cytogenetic variable. Urodeles also present the advantage of only 10 families and less than 600 species, which facilitates the analysis of patterns within the entire order. The purpose of this review is to present a summary of what is currently known about overall patterns of variation in karyology and genome size in salamanders. These patterns are discussed within an evolutionary context.

  9. Molecular cytogenetics for acute megakaryocytic leukemia diagnosis

    Directory of Open Access Journals (Sweden)

    E. A. Matveeva

    2014-07-01

    Full Text Available Acute megakaryocytic leukemia (AML M7 – a rare disease characterized by poor treatment response, except for t(1;22 variant in infants. Cytogenetic abnormalities in AML M7 are highly heterogeneous. We collected samples from children with AML M7 to analyze the disease cytogenetic profile. During September 2009 to March 2012 20 AML M7 patients was studied using fluorescence in situ hybridization. Complex and heterogeneous chromosomal abnormalities were revealed. It was found that no recurring abnormalities and cytogenetic markers unique to each patients. Also, the 19p13 amplification described previously only in myeloid cell lines was detected.

  10. Molecular cytogenetics for acute megakaryocytic leukemia diagnosis

    Directory of Open Access Journals (Sweden)

    E. A. Matveeva

    2012-01-01

    Full Text Available Acute megakaryocytic leukemia (AML M7 – a rare disease characterized by poor treatment response, except for t(1;22 variant in infants. Cytogenetic abnormalities in AML M7 are highly heterogeneous. We collected samples from children with AML M7 to analyze the disease cytogenetic profile. During September 2009 to March 2012 20 AML M7 patients was studied using fluorescence in situ hybridization. Complex and heterogeneous chromosomal abnormalities were revealed. It was found that no recurring abnormalities and cytogenetic markers unique to each patients. Also, the 19p13 amplification described previously only in myeloid cell lines was detected.

  11. Cytogenetic characterization of olive flounder Paralichthys olivaceus: DNA content, karyotype, AgNORs and location of major ribosomal genes

    Institute of Scientific and Technical Information of China (English)

    WANG Xubo; ZHANG Quanqi; CHEN Yanjie; QI Jie; WANG Zhigang; WANG Xinglian

    2009-01-01

    A cytogenetic analysis of Paralichthys olivaceus was carried out using the flow cytometry method for DNA content, silver staining for the nucleolus organizer region (AgNORs) identification and one-color fluorescence in situ hybridization (FISH) for chromosomal mapping of major ribosomal genes. Nuclear DNA content was estimated by flow cytometry method using Gallus domesticus erythrocytes as the internal reference standard. The C-value of this species was (0.737±0.024) pg, and the DNA contents of each chromosome were estimated to be 16.51 Mb to 39.50 Mb after paired according to the average relative length. The FISH probe was made by PCR amplification of a DNA fragment containing internal transcribed spacers ITS1 between 18S and 5.8S ribosomal RNA gene, and labeled by PCR incorporation of bio-16-dUTP. FISH signals and AgNORs were both located on the secondary constrictions of chromosome 1. These results will provide a better understanding of the cytogenetic information of this species and would help for further research of the karyotype evolution in the order Pleuronectiformes.

  12. A New Sythetic Hybrid (A1D5) between Gossypium herbaceum and G. raimondii and Its Morphological, Cytogenetic, Molecular Characterization

    Science.gov (United States)

    Zhu, Shuijin; Zhang, Lufei; Li, Lingjiao

    2017-01-01

    The diploid species G. herbaceum (A1) and G. raimondii (D5) are the progenitors of allotetraploid cotton, respectively. However, hybrids between G. herbaceum and G. raimondii haven’t been reported. In the present study, hybridization between G. herbaceum and G. raimondii was explored. Morphological, cytogenetic and molecular analyses were used to assess the hybridity. The interspecific hybrid plants were successfully obtained. Most of the morphological characteristics of the hybrids were intermediate between G. herbaceum and G. raimondii. However, the color of glands, anther cases, pollen and corolla, and the state of bracteoles in hybrids were associated with the G. herbaceum. The color of staminal columns and filaments in hybrids were associated with G. raimondii. Cytogenetic analysis confirmed abnormal meiotic behavior existed in hybrids. The hybrids couldn’t produce boll-set. Simple sequence repeat results found that besides the fragments inherited from the two parents, some novel bands were amplified in hybrids, indicating that potential mutations and chromosomal recombination occurred between parental genomes during hybridization. These results may provide some novel insights in speciation, genome interaction, and evolution of the tetraploid cotton species. PMID:28187145

  13. Molecular cytogenetic characterization of a new wheat Secale africanum 2Ra(2D) substitution line for resistance to stripe rust

    Indian Academy of Sciences (India)

    Mengping Lei; Guangrong Li; Sufen Zhang; Cheng Liu; Zujun Yang

    2011-08-01

    A stable, highly fertile wheat Secale africanum substitution line LF24, derived from the F7 generation of a cross between Mianyang11 (MY11) and Triticum durum, S. africanum amphiploid (YF) was identified through molecular cytogenetic analysis. Application of C-banding, in situ hybridization and molecular markers analysis showed that LF24 was a wheat S. africanum 2Ra(2D) substitution line. When inoculated with stripe rust isolates, T. durum and MY11 were highly susceptible, while S. africanum, YF and LF24 were immune. It is confirmed through molecular cytogenetic analysis that the stripe rust resistance of LF24 was derived from S. africanum chromosome 2Ra. We compared the banding patterns and disease resistance of reported chromosomes 2R from different S. cereale introduced into wheat background, and found that there was new stripe rust resistance gene(s) on S. africanum 2Ra. LF24 is a new substitution line which can be used as stripe rust resistant source in wheat improvement.

  14. Establishment of a new human pleomorphic malignant fibrous histiocytoma cell line, FU-MFH-2: molecular cytogenetic characterization by multicolor fluorescence in situ hybridization and comparative genomic hybridization

    Directory of Open Access Journals (Sweden)

    Isayama Teruto

    2010-11-01

    Full Text Available Abstract Background Pleomorphic malignant fibrous histiocytoma (MFH is one of the most frequent malignant soft tissue tumors in adults. Despite the considerable amount of research on MFH cell lines, their characterization at a molecular cytogenetic level has not been extensively analyzed. Methods and results We established a new permanent human cell line, FU-MFH-2, from a metastatic pleomorphic MFH of a 72-year-old Japanese man, and applied multicolor fluorescence in situ hybridization (M-FISH, Urovysion™ FISH, and comparative genomic hybridization (CGH for the characterization of chromosomal aberrations. FU-MFH-2 cells were spindle or polygonal in shape with oval nuclei, and were successfully maintained in vitro for over 80 passages. The histological features of heterotransplanted tumors in severe combined immunodeficiency mice were essentially the same as those of the original tumor. Cytogenetic and M-FISH analyses displayed a hypotriploid karyotype with numerous structural aberrations. Urovysion™ FISH revealed a homozygous deletion of the p16INK4A locus on chromosome band 9p21. CGH analysis showed a high-level amplification of 9q31-q34, gains of 1p12-p34.3, 2p21, 2q11.2-q21, 3p, 4p, 6q22-qter, 8p11.2, 8q11.2-q21.1, 9q21-qter, 11q13, 12q24, 15q21-qter, 16p13, 17, 20, and X, and losses of 1q43-qter, 4q32-qter, 5q14-q23, 7q32-qter, 8p21-pter, 8q23, 9p21-pter, 10p11.2-p13, and 10q11.2-q22. Conclusion The FU-MFH-2 cell line will be a particularly useful model for studying molecular pathogenesis of human pleomorphic MFH.

  15. Cytogenetic characterization of Melipona rufiventris Lepeletier 1836 and Melipona mondury Smith 1863 (Hymenoptera, Apidae by C banding and fluorochromes staining

    Directory of Open Access Journals (Sweden)

    Denilce Meneses Lopes

    2008-01-01

    Full Text Available The stingless bees Melipona rufiventris and M. mondury were analyzed cytogenetically by conventional staining with Giemsa, C-banding and sequential staining with the fluorochromes CMA3/DA/DAPI. Both species presented 2n = 18 and n = 9, except for one colony of M. rufiventris, in which some individuals had 2n = 19 due to the presence of a B chromosome. After Giemsa staining and C-banding the chromosomes appeared very condensed and presented a high heterochromatic content, making it difficult to localize the centromere and therefore to visualize the chromosomes morphology. The constitutive heterochromatin was located in interstitial chromosome regions covering most of the chromosomes extension and consisted mainly of AT, as shown by DAPI staining. The euchromatin was restricted to the chromosome extremities and was GC-rich, as evidenced by CMA3 staining. The B chromosome was CMA3-negative and DAPI-positive, a heterochromatic constitution similar to that of the A genome chromosomes.

  16. Overview of clinical cytogenetics.

    Science.gov (United States)

    Korf, B R

    2001-08-01

    This unit provides an introduction to clinical cytogenetics. It opens with indications for prenatal and postnatal chromosome analysis, followed by a brief discussion of the applications of fluorescence in situ hybridization (FISH). It suggests tissue sources for prenatal and postnatal analysis, and closes with a review of numerical and structural chromosome abnormalities. This unit provides an introduction to clinical cytogenetics.

  17. Molecular cytogenetics of Alstroemeria: identification of parental genomes in interspecific hybrids and characterization of repetitive DNA families in constitutive heterochromatin.

    Science.gov (United States)

    Kuipers, A G; van Os, D P; de Jong, J H; Ramanna, M S

    1997-02-01

    The genus Alstroemeria consists of diploid (2n = 2x = 16) species originating mainly from Chile and Brazil. Most cultivars are triploid or tetraploid interspecific hybrids. C-banding of eight species revealed obvious differentiation of constitutive heterochromatin within the genus. The present study focused on the molecular (cyto)genetic background of this differentiation. Genomic slot-blot analysis demonstrated strong conservation of major parts of the genomes among six species. The chromosomes of A. aurea and A. ligtu, species with pronounced interstitial C-bands, were found to contain large amounts of highly repetitive and species-specific DNA. The variation in size, number and intensity of strongly probed bands of major repetitive DNA families observed in genomic Southern blots of Sau3A, HaeIII, and MseI digests indicated a strong correlation between variation in genomic DNA composition and different C-banding patterns among Alstroemeria species. Genomic in situ hybridization (GISH) revealed a clear distinction between parental chromosomes in the hybrids between Chilean and Brazilian species and also between Chilean species, as long as at least one of the parental species possessed prominent C-banding. Regarding the latter, discriminative hybridization resulted from highly repetitive species specific DNA in the heterochromatic chromosome regions of A. aurea and A. ligtu, and caused GISH banding patterns that coincided with the C-banding patterns.

  18. Molecular cytogenetics in reproductive pathology.

    Science.gov (United States)

    Bruyère, Hélène; Rajcan-Separovic, Evica; Kalousek, Dagmar K

    2002-01-01

    This chapter presents the summary of two molecular cytogenetic techniques--FISH and CGH--with their applications and limitations in the studies of pregnancy loss. These molecular techniques clearly represent a significant advantage over the traditional cytogenetic technique and likely will become the predominant cytogenetic techniques in reproductive cytogenetics of the future.

  19. Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.

    Science.gov (United States)

    Martin, Christa Lese; Duvall, Jacqueline A; Ilkin, Yesim; Simon, Jason S; Arreaza, M Gladys; Wilkes, Kristin; Alvarez-Retuerto, Ana; Whichello, Amy; Powell, Cynthia M; Rao, Kathleen; Cook, Edwin; Geschwind, Daniel H

    2007-10-05

    Cytogenetic imbalances are increasingly being realized as causes of autism. Here, we report a de novo translocation between the short arms of chromosomes 15 and 16 in a female with autism, epilepsy, and global developmental delay. FISH analysis identified a cryptic deletion of approximately 160 kb at the boundary of the first exon and first intron of the 1.7 Mb ataxin-2 binding protein-1 (A2BP1) gene, also called FOX1. Quantitative real time PCR (Q-PCR) analysis verified a deletion of exon 1 in the 5' promoter region of the A2BP1 gene. Reverse transcription PCR (qRT-PCR) showed reduced mRNA expression in the individual's lymphocytes, demonstrating the functional consequence of the deletion. A2BP1 codes for a brain-expressed RNA binding or splicing factor. Because of emerging evidence in the role of RNA processing and gene regulation in pervasive developmental disorders, we performed further screening of A2BP1 in additional individuals with autism from the Autism Genetics Resource Exchange (AGRE) collection. Twenty-seven SNPs were genotyped across A2BP1 in 206 parent-child trios and two regions showed association at P level. No additional deletions or clear mutations were identified in 88 probands by re-sequencing of all exons and surrounding intronic regions or quantitative PCR (Q-PCR) of exon 1. Although only nominal association was observed, and no obvious causal mutations were identified, these results suggest that A2BP1 may affect susceptibility or cause autism in a subset of patients. Further investigations in a larger sample may provide additional information regarding the involvement of this gene in the autistic phenotype.

  20. Cytogenetic characterization and B chromosome diversity in direct-developing frogs of the genus Oreobates (Brachycephaloidea, Craugastoridae)

    Science.gov (United States)

    Ferro, Juan Martín; Taffarel, Alberto; Cardozo, Darío; Grosso, Jimena; Puig, María Pía; Suárez, Pablo; Akmentins, Mauricio Sebastián; Baldo, Diego

    2016-01-01

    Abstract Oreobates Jiménez de la Espada, 1872 is a large group of South American frogs with terrestrial reproduction and direct development, located in the superfamily Brachycephaloidea. About 260 brachycephaloidean species have been cytogenetically studied so far, at least with standard techniques. However, this information represents fewer than 17% species of the family Craugastoridae Hedges, Duellman & Heinicke, 2008, where the genus Oreobates is included. In the present work, using a diversity of standard and molecular techniques, we describe the karyotype of Oreobates barituensis Vaira & Ferrari, 2008, Oreobates berdemenos Pereyra, Cardozo, Baldo & Baldo, 2014 and Oreobates discoidalis (Peracca, 1895), from northwestern Argentina. The three species analyzed showed a diploid karyotype with 2n = 22 biarmed chromosomes, fundamental number (FN) = 44, nucleolus organizer regions (NORs) located pericentromerically on pair 7, and a centromeric and pericentromeric C-banding pattern. We observed variations in the chromosome number in Oreobates barituensis due the presence of two morphs of B chromosomes, one medium-sized telocentric (BT) and another subtelocentric and smaller (Bst). Both B chromosomes are mitotically stable and were recorded in all somatic and germinal cells analyzed. The BT chromosome occurred at a maximum of one per individual (2n = 22+BT), and the other one was observed single (2n = 22 + Bst) or as a pair in two doses (2n = 22 + 2BT). We additionally observed other supernumerary chromosomes in the three species analyzed, all of them euchromatic, small, dot-shaped and with instability during mitoses, showing a frequency of occurrence below 50% in studied specimens. The occurrence of polymorphic and spontaneous chromosomal rearrangements and supernumerary chromosomes is a recurrent feature reported in frogs with terrestrial habits (Brachycephaloidea and Hemiphractidae Peters, 1862), which suggests that Brachycephaloidea may be a promising group for

  1. The Molecular Cytogenetic Characterization of Pistachio (Pistacia vera L.) Suggests the Arrest of Recombination in the Largest Heteropycnotic Pair HC1.

    Science.gov (United States)

    Sola-Campoy, Pedro J; Robles, Francisca; Schwarzacher, Trude; Ruiz Rejón, Carmelo; de la Herrán, Roberto; Navajas-Pérez, Rafael

    2015-01-01

    This paper represents the first molecular cytogenetic characterization of the strictly dioecious pistachio tree (Pistacia vera L.). The karyotype was characterized by fluorescent in situ hybridization (FISH) with probes for 5S and 45S rDNAs, and the pistachio specific satellite DNAs PIVE-40, and PIVE-180, together with DAPI-staining. PIVE-180 has a monomeric unit of 176-178 bp and high sequence homology between family members; PIVE-40 has a 43 bp consensus monomeric unit, and is most likely arranged in higher order repeats (HORs) of two units. The P. vera genome is highly heterochromatic, and prominent DAPI positive blocks are detected in most chromosomes. Despite the difficulty in classifying chromosomes according to morphology, 10 out of 15 pairs (2n = 30) could be distinguished by their unique banding patterns using a combination of FISH probes. Significantly, the largest pair, designated HC1, is strongly heteropycnotic, shows differential condensation, and has massive enrichment in PIVE-40 repeats. There are two types of HC1 chromosomes (type-I and type-II) with differing PIVE-40 hybridization signal. Only type-I/II heterozygotes and type-I homozygotes individuals were found. We speculate that the differentiation between the two HC1 chromosomes is due to suppression of homologous recombination at meiosis, reinforced by the presence of PIVE-40 HORs and differences in PIVE-40 abundance. This would be compatible with a ZW sex-determination system in the pistachio tree.

  2. The Molecular Cytogenetic Characterization of Pistachio (Pistacia vera L. Suggests the Arrest of Recombination in the Largest Heteropycnotic Pair HC1.

    Directory of Open Access Journals (Sweden)

    Pedro J Sola-Campoy

    Full Text Available This paper represents the first molecular cytogenetic characterization of the strictly dioecious pistachio tree (Pistacia vera L.. The karyotype was characterized by fluorescent in situ hybridization (FISH with probes for 5S and 45S rDNAs, and the pistachio specific satellite DNAs PIVE-40, and PIVE-180, together with DAPI-staining. PIVE-180 has a monomeric unit of 176-178 bp and high sequence homology between family members; PIVE-40 has a 43 bp consensus monomeric unit, and is most likely arranged in higher order repeats (HORs of two units. The P. vera genome is highly heterochromatic, and prominent DAPI positive blocks are detected in most chromosomes. Despite the difficulty in classifying chromosomes according to morphology, 10 out of 15 pairs (2n = 30 could be distinguished by their unique banding patterns using a combination of FISH probes. Significantly, the largest pair, designated HC1, is strongly heteropycnotic, shows differential condensation, and has massive enrichment in PIVE-40 repeats. There are two types of HC1 chromosomes (type-I and type-II with differing PIVE-40 hybridization signal. Only type-I/II heterozygotes and type-I homozygotes individuals were found. We speculate that the differentiation between the two HC1 chromosomes is due to suppression of homologous recombination at meiosis, reinforced by the presence of PIVE-40 HORs and differences in PIVE-40 abundance. This would be compatible with a ZW sex-determination system in the pistachio tree.

  3. Cytogenetics in animal production

    OpenAIRE

    2010-01-01

    Cytogenetics applied to domestic animals is a useful biotechnology to be applied in the genetic improvement of livestock. Indeed, it can be used to select reproducers free chromosome abnormalities which are responsible for abnormal body conformation (aneuploidy), lower fertility (balanced chromosome abnormalities) or sterility (sex chromosome abnormalities). Cytogenetics may also be applied to assess environmental pollution by studying animals living in hazardous areas and using them as biolo...

  4. Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

    OpenAIRE

    Dutta, Usha R.; Vijaya Kumar Pidugu; Ashwin Dalal

    2012-01-01

    We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the s...

  5. A new human natural killer leukemia cell line, IMC-1. A complex chromosomal rearrangement defined by spectral karyotyping: functional and cytogenetic characterization.

    Science.gov (United States)

    Chen, I-Ming; Whalen, Margaret; Bankhurst, Arthur; Sever, Cordelia E; Doshi, Rashmi; Hardekopf, David; Montgomery, Karen; Willman, Cheryl L

    2004-03-01

    A new human IL-2 dependent leukemic cell line with a natural killer (NK) cell phenotype, IMC-1, was established from an adult patient with aggressive NK cell leukemia. The IMC-1 cell line expresses the CD56, CD2, CD11a, CD38 and HLA-DR cell surface antigens, whereas the CD16 and CD8 antigens expressed on the primary leukemic blasts from which the cell line was derived were lost after 7 and 28 weeks of culture, respectively. The IMC-1 cell line displays functional NK cytotoxicity and lyses target cells in a non-MHC restricted, antibody-independent manner with equal or superior efficiency to freshly isolated NK cells. Cytogenetic analysis at presentation and after 55 weeks in culture revealed complex structural and numerical abnormalities, defined by classic G-banding and by spectral karyotyping (SKY). Three apparently intact copies of chromosome 8 occurred in the diagnostic bone marrow specimen; the cell line also contains three copies of chromosome 8 but each was structurally altered. The development and detailed characterization of this new NK leukemic cell line will facilitate biologic and functional studies of NK cells and chromosomal aberrations potentially important in leukemic transformation.

  6. Classical cytogenetics: karyotyping techniques.

    Science.gov (United States)

    Bates, Steven E

    2011-01-01

    Classical cytogenetics by karyotyping has been utilized in clinical research laboratories for more than 50 years and remains the key method used in the stem cell laboratory to assess the genetic stability of stem cell cultures. It is currently the most readily accessible method for detecting chromosomal abnormalities in pluripotent stem cell cultures. This chapter will describe (1) how to prepare a culture to maximize the number of metaphase cells, (2) how to prepare slides containing chromosome spreads (3) methods used to stain chromosomes, and (4) how to interpret the cytogenetic report.

  7. Immunophenotypic, cytogenetic, and mutational characterization of cell lines derived from myelodysplastic syndrome patients after progression to acute myeloid leukemia.

    Science.gov (United States)

    Palau, Anna; Mallo, Mar; Palomo, Laura; Rodríguez-Hernández, Ines; Diesch, Jeannine; Campos, Diana; Granada, Isabel; Juncà, Jordi; Drexler, Hans G; Solé, Francesc; Buschbeck, Marcus

    2017-03-01

    Leukemia cell lines have been widely used in the hematology field to unravel mechanistic insights and to test new therapeutic strategies. Myelodysplastic syndromes (MDS) comprise a heterogeneous group of diseases that are characterized by ineffective hematopoiesis and frequent progress to acute myeloid leukemia (AML). A few cell lines have been established from MDS patients after progression to AML but their characterization is incomplete. Here we provide a detailed description of the immunophenotypic profile of the MDS-derived cell lines SKK-1, SKM-1, F-36P; and MOLM-13. Specifically, we analyzed a comprehensive panel of markers that are currently applied in the diagnostic routine for myeloid disorders. To provide high-resolution genetic data comprising copy number alterations and losses of heterozygosity we performed whole genome single nucleotide polymorphism-based arrays and included the cell line OHN-GM that harbors the frequent chromosome arm 5q deletion. Furthermore, we assessed the mutational status of 83 disease-relevant genes. Our results provide a resource to the MDS and AML field that allows researchers to choose the best-matching cell line for their functional studies. © 2016 Wiley Periodicals, Inc.

  8. Molecular and Cytogenetic Characterization of New Wheat—Dasypyrum breviaristatum Derivatives with Post-Harvest Re-Growth Habit

    Directory of Open Access Journals (Sweden)

    Hongjun Zhang

    2015-11-01

    Full Text Available A novel Dasypyrum species, Dasypyrum breviaristatum, serves as a valuable source of useful genes for wheat improvement. The development and characterization of new wheat—D. breviaristatum introgression lines is important to determine the novel gene(s on specific chromosome(s. We first used multi-color fluorescence in situ hybridization (FISH to identify the individual D. breviaristatum Vb chromosomes in a common wheat—D. breviaristatum partial amphiploid, TDH-2. The FISH patterns of D. breviaristatum chromosomes were different from those of D. villosum chromosomes. Lines D2146 and D2150 were selected from a cross between wheat line MY11 and wheat—D. breviaristatum partial amphiploid TDH-2, and they were characterized by FISH and PCR-based molecular markers. We found that D2150 was a monosomic addition line for chromosome 5Vb of D. breviaristatum, while D2146 had the 5VbL chromosome arm translocated with wheat chromosome 5AS. Molecular marker analysis confirmed that the introduced D. breviaristatum chromosome 5VbL translocation possessed a duplicated region homoeologous to 5AS, revealing that the 5AS.5VbL translocation may not functionally compensate well. The dwarfing and the pre-harvest re-growth habits observed in the wheat—D. breviaristatum chromosome 5Vb derivatives may be useful for future development of perennial growth wheat lines.

  9. Molecular and Cytogenetic Characterization of New Wheat-Dasypyrum breviaristatum Derivatives with Post-Harvest Re-Growth Habit.

    Science.gov (United States)

    Zhang, Hongjun; Li, Guangrong; Li, Donghai; Gao, Dan; Zhang, Jie; Yang, Ennian; Yang, Zujun

    2015-11-27

    A novel Dasypyrum species, Dasypyrum breviaristatum, serves as a valuable source of useful genes for wheat improvement. The development and characterization of new wheat-D. breviaristatum introgression lines is important to determine the novel gene(s) on specific chromosome(s). We first used multi-color fluorescence in situ hybridization (FISH) to identify the individual D. breviaristatum V(b) chromosomes in a common wheat-D. breviaristatum partial amphiploid, TDH-2. The FISH patterns of D. breviaristatum chromosomes were different from those of D. villosum chromosomes. Lines D2146 and D2150 were selected from a cross between wheat line MY11 and wheat-D. breviaristatum partial amphiploid TDH-2, and they were characterized by FISH and PCR-based molecular markers. We found that D2150 was a monosomic addition line for chromosome 5V(b) of D. breviaristatum, while D2146 had the 5V(b)L chromosome arm translocated with wheat chromosome 5AS. Molecular marker analysis confirmed that the introduced D. breviaristatum chromosome 5V(b)L translocation possessed a duplicated region homoeologous to 5AS, revealing that the 5AS.5V(b)L translocation may not functionally compensate well. The dwarfing and the pre-harvest re-growth habits observed in the wheat-D. breviaristatum chromosome 5V(b) derivatives may be useful for future development of perennial growth wheat lines.

  10. Cytogenetic characterization of Hoplias malabaricus (Bloch, 1794 from the Ctalamochita River (Córdoba, Argentina: first evidence for southernmost populations of this species complex and comments on its biogeography

    Directory of Open Access Journals (Sweden)

    Diego Javier Grassi

    2017-01-01

    Full Text Available Hoplias malabaricus (Bloch, 1794, a predatory freshwater fish with a wide distribution throughout South America, represents a species complex with seven well characterized karyomorphs at the cytogenetic level. Although this species has been extensively studied in several Brazilian basins, data are still scarce for hydrographic systems from other South American countries. This study aims to characterize cytogenetically the Hoplias malabaricus populations from the Argentinean Central Region, close to the southernmost distribution of this species complex. A total of 32 specimens from the Ctalamochita River, a tributary of Lower Paraná Basin located in the province of Córdoba, were analyzed using cytogenetic techniques (Giemsa staining, C- and Ag-NOR banding and fluorescent in situ hybridization with 18S rDNA. All the specimens showed diploid number 2n=42, chromosomic formula 22m + 20sm and absence of sexual chromosomes. Thus, the analyzed populations belong to the karyomorph named A. These populations showed a remarkable degree of divergence in their cytogenetic traits such as karyotypic formula, C-banding, NORs and 18S rDNA patterns for Hoplias malabaricus from other populations bearing the same karyomorph in the Middle and Upper Paraná Basin. These findings are consistent with molecular data from a recent study (where specimens collected in the present work were included, which indicate a closer phylogenetic relationship of Hoplias malabaricus populations from the Ctalamochita River with those from the Uruguay basin and the coastal regions of South Brazil than with populations from the Middle and Upper Paraná Basin. Overall, these pieces of evidence highlight the distinctive features of Hoplias malabaricus from the Ctalamochita River, and also reveal a complex history of dispersion of these populations. The present work is the first to provide cytogenetic information and include some phylogeographic aspects of Hoplias malabaricus populations

  11. Cytogenetic and molecular characterization of Speothos venaticus specimens = Caracterização citogenética e molecular de exemplares de Speothos venaticus

    Directory of Open Access Journals (Sweden)

    Lígia Souza Lima Silveira da Mota

    2010-10-01

    Full Text Available The bush dog (Speothos venaticus is a South American canid, included in the IBAMA (Brazilian Institute of Environment and Renewable Natural Resources official list of animals threatened with extinction, in the vulnerable category. As a preservation andconservation strategy, specimens kept in captivity by Brazilian Institutions are monitored by a management plan. In order to characterize and analyze the genetic variability of bush dogspecimens, a cytogenetic analysis was carried out, and microsatellite data were also obtained through the use of 15 primers, originally developed for the domestic dog (Canis familiaris. All tested primers showed transferability and amplified fragment sizes similar to those described for the canine genome. From the total number of primers, eight were tested, and presented two polymorphic regions. Regarding cytogenetic analysis, one of the animals had chromosomal mosaicism, disqualifying it as a reproducer to form stocks. Thus, we concluded that the genetic evaluation of wild animals kept in captivity provides data that can help with the practice of exchange between different institutions, avoiding problems in the reproductive capacity of the breeding stock.O cachorro-vinagre (Speothos venaticus é um canídeo sul americano que está na lista oficial do Ibama de animais ameaçados de extinção, na categoria vulnerável. Como estratégia de preservação e conservação, os espécimes mantidos em cativeiro por instituições brasileiras são acompanhados por um plano de manejo. Visando a caracterização genética e posterior análise de variabilidade genética de exemplares de cachorro-vinagre, foi feita a análise citogenética e testouse a transferabilidade de 15 primers de regiões microssatélites desenvolvidos para o cachorro doméstico (Canis familiaris para esta espécie de canídeo. Todos os primers testados mostraram transferabilidade, com fragmentos amplificados de tamanhos semelhantes aos descritos para o

  12. Cytogenetics in animal production

    Directory of Open Access Journals (Sweden)

    L. Iannuzzi

    2010-04-01

    Full Text Available Cytogenetics applied to domestic animals is a useful biotechnology to be applied in the genetic improvement of livestock. Indeed, it can be used to select reproducers free chromosome abnormalities which are responsible for abnormal body conformation (aneuploidy, lower fertility (balanced chromosome abnormalities or sterility (sex chromosome abnormalities. Cytogenetics may also be applied to assess environmental pollution by studying animals living in hazardous areas and using them as biological indicators (sentinels. Chromosomes also represent optimal biological structures to study the evolution among related (bovids and unrelated (bovidshumans species, especially using comparative FISH-mapping which is one of the most powerful tools to establish the correct order of loci along chromosomes. These comparisons allow us to transfer useful information from richer genomes (human to those of domestic animals. Moreover, the use of specific molecular markers and the FISH-technique on both mitotic and extended (fiber-FISH chromosomes, has heralded a new era of cytogenetics, allowing swift extension of genetic physical maps, better anchoring of both linkage and RH-maps to specific chromosome regions, and use in a variety of applications (clinical cases, embryo and sperm analyses, evolution. In this study a brief review of these fields of the animal cytogenetics is presented.

  13. Cancer cytogenetics: methodology revisited.

    Science.gov (United States)

    Wan, Thomas S K

    2014-11-01

    The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed.

  14. Molecular cytogenetics and characterization of a ZZ/ZW sex chromosome system in Triportheus nematurus (Characiformes, Characidae).

    Science.gov (United States)

    Diniz, Débora; Moreira-Filho, Orlando; Bertollo, Luiz Antonio Carlos

    2008-05-01

    Chromosomes of Triportheus nematurus, a fish species from family Characidae, were analyzed in order to establish the conventional karyotype, location of C-band positive heterochromatin, Ag-NORs, GC- and AT-rich sites, and mapping of 18S and 5S rDNA with fluorescence in situ hybridization (FISH). The diploid number found was 2n = 52 chromosomes in both males and females. However, the females presented a pair of differentiated heteromorphic chromosomes, characterizing a ZZ/ZW sex chromosome system. The Z chromosome was metacentric and the largest one in the karyotype, bearing C-positive heterochromatin at pericentromeric and telomeric regions. The W chromosome was middle-sized submetacentric, appearing mostly heterochromatic after C-banding and presenting heterogeneous heterochromatin composed of GC- and AT-rich regions revealed by fluorochrome staining. Ag-NORs were also GC-rich and surrounded by heterochromatic regions, being located at the secondary constriction on the short arms of the second chromosome pair, in agreement with 18S rDNA sites detected with FISH. The 18S and 5S rDNA were aligned in tandem, representing an uncommon situation in fishes. The results obtained reinforce the basal condition of the ZZ/ZW sex system in the genus Triportheus, probably arisen prior to speciation in the group.

  15. Molecular cytogenetic identification and characterization of Robertsonian chromosomes in the large Japanese field mouse (Apodemus speciosus) using FISH.

    Science.gov (United States)

    Yamagishi, Manabu; Matsubara, Kazumi; Sakaizumi, Mitsuru

    2012-10-01

    Robertsonian (Rb) karyotypic polymorphism in Apodemus speciosus has interested many researchers with particular referece to the genetic divergence between Rb and non-Rb populations. Failure to find morphologic, biochemical, or genetic differences in previous studies reveals the necessity of focusing on loci on Rb chromosomes, which can be characterized by FISH mapping with DNA probes. In an Rb heterozygote, DNA probes from laboratory mouse chromosomes (MMUs) 1 and 10 were simultaneously hybridized to the long arm of a metacentric and a medium-sized acrocentric chromosome and to the short arm of the metacentric and a small acrocentric chromosome, respectively. Four additional probes derived from each of MMUs 1 and 10 were mapped to the long and short arms, respectively, of the Rb chromosome identified by the above markers. Homologies between the long arm of the Rb chromosome and MMU 1 and between the short arm and MMU 10 were supported by all ten markers, which were dispersed along nearly the entire lengths of the Rb chromosomes. These results indicate that the long and short arms of the Rb chromosomes are homologous to Apodemus speciosus chromosomes 12 and 19 (defined in a previous study), respectively. This ten-marker series can be useful for detecting chromosome-specific divergence between the two karyotypic populations at the gene level.

  16. Advanced microtechnologies for cytogenetic analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Vedarethinam, Indumathi; Shah, Pranjul Jaykumar;

    2012-01-01

    Cytogenetic and molecular cytogenetic analyses, which aim to detect chromosome abnormalities, are routinely performed in cytogenetic laboratories all over the world. Traditional cytogenetic studies are performed by analyzing the banding pattern of chromosomes, and are complemented by molecular...... cytogenetic techniques such as fluorescent in situ hybridization (FISH). To improve FISH application in cytogenetic analysis the issues with long experimental time, high volumes of expensive reagents and requirement for trained technicians need to be addressed. The protocol has recently evolved towards...... to introduce automation in the cytogenetic laboratories at a microscale. We have developed membrane based micro perfusion systems capable of expansion of lymphocytes in a shorter time and at a smaller scale. The simulated and experimental results show very efficient exchange of the growth medium...

  17. Epilepsy and the new cytogenetics.

    Science.gov (United States)

    Mulley, John C; Mefford, Heather C

    2011-03-01

    We set out to review the extent to which molecular karyotyping has overtaken conventional cytogenetics in applications related to epilepsy. Multiplex ligase-dependent probe amplification (MLPA) targeted to predetermined regions such as SCN1A and KCNQ2 has been effectively applied over the last half a decade, and oligonucleotide array comparative genome hybridization (array CGH) is now well established for genome-wide exploration of microchromosomal variation. Array CGH is applicable to the characterization of lesions present in both sporadic and familial epilepsy, especially where clinical features of affected cases depart from established syndromes. Copy number variants (CNVs) associated with epilepsy and a range of other syndromes and conditions can be recurrent due to nonallelic homologous recombination in regions of segmental duplication. The most common of the recurrent microdeletions associated with generalized epilepsy are typically seen at a frequency of ∼ 1% at 15q13.3, 16p13.11, and 15q11.2, sites that also confer susceptibility for intellectual disability, autism, and schizophrenia. Incomplete penetrance and variable expressivity confound the established rules of cytogenetics for determining the pathogenicity for novel CNVs; however, as knowledge is gained for each of the recurrent CNVs, this is translated to genetic counseling. CNVs play a significant role in the susceptibility profile for epilepsies, with complex genetics and their comorbidities both from the "hotspots" defined by segmental duplication and elsewhere in the genome where their location and size are often novel.

  18. [Contribution of molecular cytogenetics to the diagnosis of chromosome anomalies].

    Science.gov (United States)

    Tachdjian, G

    1999-01-09

    MOLECULAR CYTOGENETICS: New fluorescent in situ hybridization (FISH) techniques have been developed using fluorescent non-radioactive DNA probes. FISH: Based on the complementary of nucleotides FISH enables visualization and localization of a DNA fragment on chromosomes by hybridizing the complementary DNA sequence, the probe. Many types of tissues can be analyzed, for example hematopoietic cells in blood or bone marrow, amniotic cells, trophoblasts, fibroblasts, gamete or tumoral cells. Molecular cytogenetics can be used to characterize chromosome anomalies in many fields of cytogenetics (constitutional studies, prenatal diagnosis, hematology, oncology).

  19. New methods in cytogenetics.

    Science.gov (United States)

    Buckle, V J; Kearney, L

    1994-06-01

    Developments in the technique of fluorescence in situ hybridization (FISH) now permit hybridization of sequences ranging from 1 kb to whole genomes. The technique can be used in applications from coarse mapping of whole chromosomes to high-resolution analysis of extended strands of DNA. The complexity, and hence the coverage, of 'paints' prepared by amplification is being improved to the extent that such methods are used in cloning strategies for the generation of region-specific probes. Interphase analysis and comparative genomic hybridization are becoming important tools in cancer cytogenetics, and the potential for routine analysis of fetal cells obtained from maternal blood may provide a fresh approach to prenatal cytogenetic screening. Functional studies of gene activity and nuclear organization are now also possible.

  20. Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrhea.

    Science.gov (United States)

    Dutta, Usha R; Pidugu, Vijaya Kumar; Dalal, Ashwin

    2012-01-01

    We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

  1. Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

    Directory of Open Access Journals (Sweden)

    Usha R. Dutta

    2012-01-01

    Full Text Available We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19(p11.2;p13.3[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

  2. Cytogenetic contribution to uniparental disomy (UPD

    Directory of Open Access Journals (Sweden)

    Liehr Thomas

    2010-03-01

    Full Text Available Abstract Uniparental disomy (UPD is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular cytogenetic characterization of UPD cases is essential. Up to now > 1,100 UPD cases detected in clinical, non-tumor cases are reported in the literature. Recently, these cases were summarized in a regularly updated, freely available online database http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm. Based of this, here the presently known imprinting syndromes, the chromosomal contribution to UPD phenomenon, and the cytogenetic subgroups of UPD, including cases with normal, abnormal balanced or unbalanced karyotype (like e.g. small supernumerary marker chromosomes and Robertsonian translocations and segmental UPD are reviewed. Furthermore, chromosome fragmentation as a possible mechanism of trisomic rescue is discussed, which might help to explain the observed 1:9 rate of maternal versus paternal UPD present in cases with original trisomic karyotypes. Overall, as UPD is more but an interesting rarity, the genetic background of each "UPD-patient" needs to be characterized besides by molecular methods, also by molecular cytogenetics in detail.

  3. Plant cytogenetics in genome databases

    Science.gov (United States)

    Cytogenetic maps provide an integrated representation of genetic and cytological information that can be used to enhance genome and chromosome research. As genome analysis technologies become more affordable, the density of markers on cytogenetic maps increases, making these resources more useful a...

  4. Recent patents on molecular cytogenetics.

    Science.gov (United States)

    Iourov, Ivan Y; Vorsanova, Svetlana G; Yurov, Yuri B

    2008-01-01

    The questions surrounding patenting of DNA sequences encoding specific proteins are relatively well reviewed in the available literature. However, neither applications nor molecular cytogenetic techniques, which use these sequences as a probe, have been reviewed in the light of the patenting. Furthermore, the patenting of the use of numerous probes, which are produced on different types of repetitive genome elements (i.e. satellite DNA or telomeric DNA sequences) and those generated by chromosome microdissection has not been reviewed. Molecular cytogenetic techniques are one of the most applied in current bioscience (as to June 2007, over 40,000 papers in browseable scientific databases mention one or several molecular cytogenetic techniques). Therefore, reviewing recent patents in this field is of general interest for numerous researchers in different areas of biology and medicine. Here, we address world-wide patents on DNA sequences used as molecular cytogenetic probes and molecular cytogenetic techniques to define current state and perspectives of this biomedical direction.

  5. Cytogenetic characterization by in situ hybridization techniques and molecular analysis of 5S rRNA genes of the European hazelnut (Corylus avellana).

    Science.gov (United States)

    Falistocco, E; Marconi, G

    2013-03-01

    The European hazelnut (Corylus avellana L.) is widespread in Europe, where it has been cultivated for centuries. Despite progress in genetics, most of the cytogenetic aspects of this species have been overlooked. The aim of this study was to fill in this gap and obtain basic information on the chromosome structure of this species. Karyomorphological analysis confirmed the chromosome number 2n = 22 and showed that, despite their apparent uniformity, the chromosomes could be separated into three groups of different size: large (L), medium (M), and small (S). As a first step towards the physical mapping of the hazelnut chromosomes, we applied FISH to localize the position of rRNA genes (rDNA). The sites of 45S and 5S rDNA enabled us to identify two chromosome pairs belonging, respectively, to the L and S groups. The self-GISH procedure revealed that repetitive DNA is concentrated in the pericentromeric regions of the chromosomes, as with other species with rather small genomes. The analysis of 5S rDNA repeats offered additional information on the hazelnut genome by obtaining the whole sequence of the transcribed region so far unpublished. The overall results constitute a substantial advance in hazelnut cytogenetics. Further investigation of other species of Corylus could be an effective approach to understanding the phylogenesis of the genus and resolving taxonomic problems.

  6. Veterinary cytogenetics: past and perspective.

    Science.gov (United States)

    Basrur, P K; Stranzinger, G

    2008-01-01

    Cytogenetics was conceived in the late 1800s and nurtured through the early 1900s by discoveries pointing to the chromosomal basis of inheritance. The relevance of chromosomes to human health and disease was realized more than half a century later when improvements in techniques facilitated unequivocal chromosome delineation. Veterinary cytogenetics has benefited from the information generated in human cytogenetics which, in turn, owes its theoretical and technical advancement to data gathered from plants, insects and laboratory mammals. The scope of this science has moved from the structure and number of chromosomes to molecular cytogenetics for use in research or for diagnostic and prognostic purposes including comparative genomic hybridization arrays, single nucleotide polymorphism array-based karyotyping and automated systems for counting the results of standard FISH preparations. Even though the counterparts to a variety of human diseases and disorders are seen in domestic animals, clinical applications of veterinary cytogenetics will be less well exploited mainly because of the cost-driven nature of demand on diagnosis and treatment which often out-weigh emotional and sentimental attachments. An area where the potential of veterinary cytogenetics will be fully exploited is reproduction since an inherited aberration that impacts on reproductive efficiency can compromise the success achieved over the years in animal breeding. It is gratifying to note that such aberrations can now be tracked and tackled using sophisticated cytogenetic tools already commercially available for RNA expression analysis, chromatin immunoprecipitation, or comparative genomic hybridization using custom-made microarray platforms that allow the construction of microarrays that match veterinary cytogenetic needs, be it for research or for clinical applications. Judging from the technical refinements already accomplished in veterinary cytogenetics since the 1960s, it is clear that the

  7. Flow cytogenetics and plant genome mapping.

    Science.gov (United States)

    Dolezel, Jaroslav; Kubaláková, Marie; Bartos, Jan; Macas, Jirí

    2004-01-01

    The application of flow cytometry and sorting (flow cytogenetics) to plant chromosomes did not begin until the mid-1980s, having been delayed by difficulties in preparation of suspensions of intact chromosomes and discrimination of individual chromosome types. These problems have been overcome during the last ten years. So far, chromosome analysis and sorting has been reported in 17 species, including major legume and cereal crops. While chromosome classification by flow cytometry (flow karyotyping) may be used for quantitative detection of structural and numerical chromosome changes, chromosomes purified by flow sorting were found to be invaluable in a broad range of applications. These included physical mapping using PCR, high-resolution cytogenetic mapping using FISH and PRINS, production of recombinant DNA libraries, targeted isolation of markers, and protein analysis. A great potential is foreseen for the use of sorted chromosomes for construction of chromosome and chromosome-arm-specific BAC libraries, targeted isolation of low-copy (genic) sequences, high-throughput physical mapping of ESTs and other DNA sequences by hybridization to DNA arrays, and global characterization of chromosomal proteins using approaches of proteomics. This paper provides a comprehensive review of the methodology and application of flow cytogenetics, and assesses its potential for plant genome analysis.

  8. CARACTERIZACION CITOGENÉTICA POR BANDAS R-REPLICATIVAS DE LA GUAGUA DE COLA (DYNOMIS BRANICKII CYTOGENETIC CHARACTERIZATION WITH R-REPLICATIVE BANDS OF TAIL GUAGUA (DYNOMIS BRANICKII

    Directory of Open Access Journals (Sweden)

    Lisbeth Katherine Ureña Vargas

    2010-06-01

    Colombia. Eventhough morphological rating there have been made, no other cytogenetic reports exist to let know whether the three subspecies have same karyotype. The goal of this work was to make the karyotype of Dynomis branickii using R-replicative bands through the incorporation of 5-bromo-2´-deoxyuridine (BrdU. The cytogenetic study showed a chromosome number 2n=64 and a fundamental number FN=98. The result of the karyotype was organized in three groups as: A group with 1 chromosome metacentric pair and 11 chromosome submetacentric pairs, B group with 5 metacentric pairs, C group with 14 chromosome subtelocentric pairs, and sexual chromosome pair XY, where X chromosome is submetacentric and Y subtelocentric. The ideogram was made with metaphase chromosomes on third stage of replication. The R-replicative banding revealed: the inactive behavior of the X chromosome like other mammalian females, and the smallest size in whole genome and late replication of the Y chromosome. This cytogenetic evidence showed the karyotype and ideogram of this specie for first time, which supports future cytogenetic knowledge of other subespecies related.

  9. Interphase fluorescence in situ hybridization analysis detects a much higher rate of thyroid tumors with clonal cytogenetic deviations of the main cytogenetic subgroups than conventional cytogenetics.

    Science.gov (United States)

    Drieschner, Norbert; Rippe, Volkhard; Laabs, Anne; Dittberner, Lea; Nimzyk, Rolf; Junker, Klaus; Rommel, Birgit; Kiefer, Yvonne; Belge, Gazanfer; Bullerdiek, Jörn; Sendt, Wolfgang

    2011-07-01

    In benign thyroid lesions, three main cytogenetic subgroups, characterized by trisomy 7 or structural aberrations involving either chromosomal region 19q13.4 or 2p21, can be distinguished by conventional cytogenetics (CC). As a rule, these aberrations seem to be mutually exclusive. Interphase fluorescence in situ hybridization (I-FISH) analysis on benign as well as malignant thyroid neoplasias has been performed in the past, but rarely in combination with CC. In the present paper, we have analyzed 161 benign thyroid lesions both with CC and I-FISH on touch preparations by using a multi-target, triple-color FISH assay as well as dual-color break-apart probes for detection of the main cytogenetic subgroups. Within the samples, I-FISH detected tumors belonging to either of the subgroups more frequently than CC (23 vs. 11.4%), either due to small subpopulations of aberrant cells or to cryptic chromosomal rearrangements (three cases). Thus, I-FISH seems to be more sensitive than CC, particularly in the detection of subpopulations of cells harboring cytogenetic aberrations that may be overlooked by CC. In summary, I-FISH on touch preparations of benign thyroid lesions seems to be a favorable method for cytogenetic subtyping of thyroid lesions.

  10. Molecular karyotyping in human constitutional cytogenetics.

    Science.gov (United States)

    Sanlaville, Damien; Lapierre, Jean-Michel; Turleau, Catherine; Coquin, Aurélie; Borck, Guntram; Colleaux, Laurence; Vekemans, Michel; Romana, Serge Pierrick

    2005-01-01

    Using array CGH it is possible to detect very small genetic imbalances anywhere in the genome. Its usefulness has been well documented in cancer and more recently in constitutional disorders. In particular it has been used to detect interstitial and subtelomeric submicroscopic imbalances, to characterize their size at the molecular level and to define the breakpoints of chromosomal translocation. Here, we review the various applications of array CGH in constitutional cytogenetics. This technology remains expensive and the existence of numerous sequence polymorphisms makes its interpretation difficult. The challenge today is to transfer this technology in the clinical setting.

  11. Cytogenetic report of a male breast cancer

    DEFF Research Database (Denmark)

    Cavalli, L R; Rogatto, S R; Rainho, C A

    1995-01-01

    The cytogenetic findings on G-banding in an infiltrating ductal breast carcinoma in a 69-year-old man are reported. The main abnormalities observed were trisomy of chromosomes 8 and 9 and structural rearrangement in the long arm of chromosome 17 (add(17)(q25)). Our results confirm the trisomy...... of chromosome 8 in the characterization of the subtype of ductal breast carcinomas and demonstrate that chromosome 17, which is frequently involved in female breast cancers, is also responsible for the development or progression of primary breast cancers in males....

  12. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

    Science.gov (United States)

    Descipio, Cheryl; Schneider, Lori; Young, Terri L; Wasserman, Nora; Yaeger, Dinah; Lu, Fengmin; Wheeler, Patricia G; Williams, Marc S; Bason, Lynn; Jukofsky, Lori; Menon, Ammini; Geschwindt, Ryan; Chudley, Albert E; Saraiva, Jorge; Schinzel, Albert A G L; Guichet, Agnes; Dobyns, William E; Toutain, Annick; Spinner, Nancy B; Krantz, Ian D

    2005-04-01

    We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.

  13. The first cytogenetic characterization of the poisonous black widow spider Latrodectus gr. curacaviensis from Brazil, with chromosomal review of the family Theridiidae (Arachnida, Araneae).

    Science.gov (United States)

    Araujo, Douglas; Maia, Ulysses Madureira; Brescovit, Antonio Domingos

    2010-02-01

    In this paper we present, for the first time, cytogenetical data on Latrodectus gr. curacaviensis (Theridiidae) from Brazil, as well as the first data on meiosis and sex chromosome system of this genus. Testes were submitted to colchicine, hypotonic, and fixation treatment, and chromosomal preparations were stained with Giemsa solution. The analysis showed 2n=26 telo/acrocentric chromosomes in spermatogonial metaphases. Metaphase I exhibited 12 autosomal bivalents and two sex chromosome univalents (12II + X(1)X(2)). All bivalents revealed one terminal chiasma. Metaphases II confirmed the sex chromosome system, showing 12 autosomes or 12 autosomes plus two X chromosomes, respectively. Male karyotype prevailing in theridiids is formed by 2n=22 chromosomes, including sex chromosome system X(1)X(2) in all species. The Latrodectus species of the geometricus clade analyzed until now showed smaller diploid number (2nfemale symbol=16 and 2nfemale symbol=18) than the species of the mactans clade (2nfemale symbol=24 and 2nfemale symbol=26). Thus, according to the chromosome number, the examined Latrodectus species seems to be related to the mactans clade.

  14. Characterization of the atypical karyotype of the black-winged kite Elanus caeruleus (Falconiformes: Accipitridae) by means of classical and molecular cytogenetic techniques.

    Science.gov (United States)

    Bed'Hom, Bertrand; Coullin, Philippe; Guillier-Gencik, Zuzana; Moulin, Sibyle; Bernheim, Alain; Volobouev, Vitaly

    2003-01-01

    The karyotype of the black-winged kite (Elanus caeruleus), a small diurnal raptor living in Africa, Asia and southern Europe, was studied with classical (G-, C-, R-banding, and Ag-NOR staining) and molecular cytogenetic methods, including primed in-situ labelling (PRINS) and fluorescence in-situ hybridization (FISH) with telomeric (TTAGGG) and centromeric DNA repeats. The study revealed that the genome size, measured by flow cytometry (3.1 pg), is in the normal avian range. However, the black-winged kite karyotype is particularly unusual among birds in having a moderate diploid number of 68 chromosomes, and containing only one pair of dot-shaped microchromosomes. Moreover, the macrochromosomes are medium-sized, with the Z and W gonosomes being clearly the largest in the set. C-banding shows that constitutive heterochromatin is located at the centromeric regions of all chromosomes, and that two pairs of small acrocentrics and the pair of microchromosomes are almost entirely heterochromatic and G-band negative. The distribution pattern of a centromeric repeated DNA sequence, as demonstrated by PRINS, follows that of C-heterochromatin. The localization of telomeric sequences by FISH and PRINS reveals many strong telomeric signals but no extratelomeric signal was observed. The atypical organization of the karyotype of the black-winged kite is considered in the context of the modes of karyotypic evolution in birds.

  15. Genome duplication in early vertebrates: insights from agnathan cytogenetics.

    Science.gov (United States)

    Caputo Barucchi, V; Giovannotti, M; Nisi Cerioni, P; Splendiani, A

    2013-01-01

    Agnathans represent a remnant of a primitive offshoot of the vertebrates, and the long evolutionary separation between their 2 living groups, namely hagfishes and lampreys, could explain profound biological differences, also in karyotypes and genome sizes. Here, cytogenetic studies available on these vertebrates were summarized and data discussed with reference to the recently demonstrated monophyly of this group and to the 2 events of whole genome duplication (1R and 2R) characterizing the evolution of vertebrates. The comparison of cytogenetic data and phylogenetic relationships among agnathans and gnathostomes seems to support the hypothesis that 1R and 2R occurred before the evolutionary divergence between jawless and jawed vertebrates.

  16. [From conventional cytogenetics to microarrays. Fifty years of Philadelphia chromosome].

    Science.gov (United States)

    Hernández, Jesús M; Granada, Isabel; Solé, Francesc

    2011-07-23

    In 1960 Ph-chromosome was found associated with the presence of chronic myelogenous leukemia. In these 50 years an increasing number of cytogenetic abnormalities have been found associated with hematological malignancies. The presence of these abnormalities is not only important for the diagnosis of the patient, but it also contributes to the prognosis of patients with leukemia or lymphoma. For this reason the WHO classification of hematological disease has included these studies for the correct characterization of leukemias and lymphomas. In addition, the use of FISH and micromatrix methodologies have refined the genetic lesions present in these malignancies. The cytogenetic changes observed also provide further information in relation to the therapy.

  17. Molecular cytogenetics: recent developments and applications in cancer.

    Science.gov (United States)

    Das, K; Tan, P

    2013-10-01

    Aneuploidy or alteration in chromosome numbers is a characteristic feature in cancer that is generally a consequence of defective chromosome segregation during cell division. Molecular cytogenetic analyses have conferred substantial evidence with regards to the chromosomal architectures in cancer. Most importantly, the fluorescence in situ hybridization (FISH) technique that plays a leading role in diagnostic pathology for its single-cell analysis has provided crucial information regarding genomic variations in malignant cells. Further development of molecular cytogenetic methodologies such as chromosome specific FISH karyotyping and comparative genomic hybridization have also helped in the detection of cryptic genetic changes in cancer. But, the recent advancement of high throughput sequencing technologies have provided a more comprehensive genomic analyses resulting in novel chromosome rearrangements, somatic mutations as well as identification of fusion genes leading to new therapeutic targets. This review highlights the application of early molecular cytogenetics and the recent high throughput genomic approaches in characterizing various cancers and their invaluable support in cancer therapeutics.

  18. Dose Estimation in Radiation Cytogenetics

    Science.gov (United States)

    Ainsbury, Elizabeth; Lloyd, David

    2009-04-01

    Throughout the radiation cytogenetics community, a core group of methods exists to produce an estimate of radiation dose from an observed yield of DNA damage in blood. Mathematical and statistical analysis is extremely important for accurate assessment of data and results, and a number of classical statistical methods are commonly employed. However, the large number of statistical techniques, and the complexity of the methods, can lead to errors in data analysis and misinterpretation of results. Cytogenetics dose estimation software has been developed to simplify mathematical and statistical analysis of cytogenetic data. ``Dose Estimate'' is a collection of mathematical and statistical methods based on the cytogenetics methods and programs written by Alan Edwards, David Papworth, and others. Details of the biological and mathematical techniques used in the software will be presented, including maximum likelihood estimation of yield curve coefficients for the dicentric or translocation assays. Proposals for increasing the sophistication of the software through implementation of recently published Bayesian analysis techniques for cytogenetics will also be outlined.

  19. Will the new cytogenetics replace the old cytogenetics?

    Science.gov (United States)

    Salman, M; Jhanwar, S C; Ostrer, H

    2004-10-01

    With the advent of array-based comparative genomic hybridization technology, the analog cytogenetic analysis that has been used for the past 100 years could be replaced by the quantitative, microarray-based molecular analysis. Major advantages of the new array-based cytogenetic technologies are the high resolution and the high throughput. This technology is the first to offer an autonomous whole-chromosome analysis in one hybridization reaction for the detection of submicroscopic gains/losses. However, as with any new technology, it needs to be validated with regard to its performance in various applications (e.g. clinical genetic testing and cancer applications), comparative cost, and the data interpretation.

  20. Videotaped Lectures in a Graduate Cytogenetics Course.

    Science.gov (United States)

    Phillips, R. L.; Jellen, E. N.

    1994-01-01

    Graduate students evaluated the use of videotape recordings of lectures on chromosome configurations in a cytogenetics course. Ninety-two percent of the students indicated that videotaping was worthwhile. Advantages for using the videotaped cytogenetics lectures are presented. (MDH)

  1. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing

  2. [Interphase cytogenetics in oncologic diagnosis].

    Science.gov (United States)

    Pajor, L

    1998-12-06

    Nowadays, the detection of specific DNA sequences on interphase nuclei of cytological and paraffin slide preparations by in situ hybridization, the interphase cytogenetics became an established technology in the pathological diagnostics. A historical overview on the development of the technique is presented, the theoretical basis of the detection of numerical and structural chromosomal aberrations is demonstrated and the applications are exemplified on different types of malignant lymphomas, leukaemias as well as epithelial tumors. Combined use of the interphase cytogenetics, light microscopy and immunohistochemistry with the digital imaging techniques can provide us with morphological, immunophenotypic and genotypic informations of the same cellular object which might be a milestone in the pathomorphological diagnostics.

  3. Equine clinical cytogenetics: the past and future.

    Science.gov (United States)

    Lear, T L; Bailey, E

    2008-01-01

    Cytogenetic analyses of horses have benefited the horse industry by identifying chromosomal aberrations causing congenital abnormalities, embryonic loss and infertility. Technical advances in cytogenetics enabled the identification of chromosome specific aberrations. More recently, advances in genomic tools have been used to more precisely define chromosome abnormalities. In this report we review the history of equine clinical cytogenetics, identify historical landmarks for equine clinical cytogenetics, discuss how the current use of genomic tools has benefited this area, and how future genomics tools may enhance clinical cytogenetic studies in the horse.

  4. Highly species-specific centromeric repetitive DNA sequences in lizards: molecular cytogenetic characterization of a novel family of satellite DNA sequences isolated from the water monitor lizard (Varanus salvator macromaculatus, Platynota).

    Science.gov (United States)

    Chaiprasertsri, Nampech; Uno, Yoshinobu; Peyachoknagul, Surin; Prakhongcheep, Ornjira; Baicharoen, Sudarath; Charernsuk, Saranon; Nishida, Chizuko; Matsuda, Yoichi; Koga, Akihiko; Srikulnath, Kornsorn

    2013-01-01

    Two novel repetitive DNA sequences, VSAREP1 and VSAREP2, were isolated from the water monitor lizard (Varanus salvator macromaculatus, Platynota) and characterized using molecular cytogenetics. The respective lengths and guanine-cytosine (GC) contents of the sequences were 190 bp and 57.5% for VSAREP1 and 185 bp and 59.7% for VSAREP2, and both elements were tandemly arrayed as satellite DNA in the genome. VSAREP1 and VSAREP2 were each located at the C-positive heterochromatin in the pericentromeric region of chromosome 2q, the centromeric region of chromosome 5, and 3 pairs of microchromosomes. This suggests that genomic compartmentalization between macro- and microchromosomes might not have occurred in the centromeric repetitive sequences of V. salvator macromaculatus. These 2 sequences did only hybridize to genomic DNA of V. salvator macromaculatus, but no signal was observed even for other squamate reptiles, including Varanus exanthematicus, which is a closely related species of V. salvator macromaculatus. These results suggest that these sequences were differentiated rapidly or were specifically amplified in the V. salvator macromaculatus genome.

  5. Cytogenetic tools for Arabidopsis thaliana

    NARCIS (Netherlands)

    Koornneef, M.; Fransz, P.F.; Jong, de J.H.S.G.M.

    2003-01-01

    Although the first description of chromosomes of Arabidopsis dates as far back as 1907, little attention was paid to its cytogenetics for a long time. The spectacular interest in chromosome research for this species that now is the model plant species by excellence came with the introduction of mole

  6. Cytogenetic study of a pineocytoma

    DEFF Research Database (Denmark)

    Rainho, C A; Rogatto, S R; de Moraes, L C

    1992-01-01

    The cytogenetic findings based on G-banding in a pineocytoma detected in a 29-year-old woman are reported. The chromosomal study showed numerical alterations involving chromosomes X, 5, 8, 11, 14, and 22, structural alterations of chromosomes 1, 3, 12, and 22, as well as various markers. Tumors...

  7. Molecular cytogenetic characterization of some representatives of the subgenera Artemisia and Absinthium (genus Artemisia, Asteraceae

    Directory of Open Access Journals (Sweden)

    Vallès, J.

    2008-12-01

    Full Text Available A molecular cytogenetic study has been performed in three species of the genus Artemisia, complementing previous works on two subgenera that had been scarcely studied from this standpoint, Artemisia ( A. chamaemelifolia, A. vulgaris and Absinthium ( A. absinthium. Chromomycin A3 and 4',6-diamidino-2-phenylindole (DAPI banding have been carried out, as well as fluorescent in situ hybridization (FISH of 5S and 18S-5.8S-26S ribosomal DNA. Morphometrical data of karyotype characters were calculated and idiograms with the position of the AT- and GC-rich regions as well as rDNA loci were constructed. Colocalization of most of these regions has been observed, confirming previous findings in this genus. Both ribosomal DNA appear always colocalized, which is a distinct feature with respect to most angiosperms surveyed. Regarding the differential characteristics of each species, a symmetrical karyotype has been found in the species studied. Artemisia absinthium shows long chromosomes and absence of centromeric banding signals that, conversely, are absent in A. vulgaris andA. chamaemelifolia. The last species also presents B-chromosomes in which ribosomal DNA and heterochromatin have been detected. Despite these differences, karyotype morphology and signal pattern of the three species are quite coincidental. This might reflect a close phylogenetic relationship between both subgenera, which is consistent with the available molecular phylogenies presenting species of the subgenera Artemisia and Absinthium intermixed.

    Se ha llevado a cabo un estudio citogenético molecular en tres especies del género Artemisia, que complementa trabajos previos sobre dos subgéneros que han sido poco estudiados desde este punto de vista, Artemisia (A. chamaemelifolia, A. vulgaris y Absinthium (A. absinthium. Se han efectuado tinciones de bandeo con cromomicina A3

  8. Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis.

    Science.gov (United States)

    Moro, M A; Sanna, R; Cambosu, F; Soro, G; Dessole, S; Montella, A; Capobianco, G

    2014-01-01

    The authors report a preterm neonate with dysmorphic traits and cleft palate who was born preterm because of precipitous delivery and died soon after birth notwithstanding neonatal intensive care unit (NICU) support. The cytogenetic analysis on fibroblasts from post-mortem skin biopsy demonstrated a Pallister-Killian syndrome (PKS). PKS is a cytogenetically syndrome characterized by a tissue limited mosaic distribution of one isochromosome 12p (tetrasomy 12p). Clinical manifestations of PKS are variable, and some symptoms may overlap with other malformative syndromes, thus the correct diagnosis mainly depends on the demonstration of the specific cytogenetic abnormality.

  9. Fluorescence in situ hybridization applied to domestic animal cytogenetics.

    Science.gov (United States)

    Rubes, J; Pinton, A; Bonnet-Garnier, A; Fillon, V; Musilova, P; Michalova, K; Kubickova, S; Ducos, A; Yerle, M

    2009-01-01

    The aim of this article is not to present an exhaustive review of molecular cytogenetics applications in domestic animal species, but more to illustrate the considerable contribution of these approaches in diagnostics and research in economically important species. A short presentation of the main applications of molecular cytogenetics in humans points out the domains in which it has become an essential tool and underlines the specificities attached to this species in comparison to farm animals. This article is devoted to outlining the current resources available in domestic species and to some examples of fluorescence in situ hybridization applications in the cattle, pig, horse and avian species. From a clinical point of view, these examples illustrate the advantages of FISH for the study of chromosomal abnormalities (identification, characterization and estimation of their effects). Other applications of molecular cytogenetics are also illustrated, particularly ZOO-FISH, an approach which allows the determination of chromosome homologies between species. Finally, a specific emphasis was placed on the usefulness of molecular cytogenetics for the analysis of species such as poultry, which harbour a complex karyotype.

  10. Interphase cytogenetics of prostatic adenocarcinoma

    OpenAIRE

    Alers, Janneke

    1997-01-01

    textabstractIn the first part of this chapter an overview will be presented on the structural, histological and functional aspects of the normal human prostate. The second part describes the epidemiological and clinicopathological features of prostatic adenocarcinoma. Further, a state of the art of (cyto)genetic aberrations occurring in prostatic cancer is given. The third part of this introduction will discuss methodological aspects of this thesis, i.e., the development and methodology of no...

  11. Some difficult choices in cytogenetics.

    Science.gov (United States)

    Swansbury, John

    2003-01-01

    In making a selection of features of these technologies, it is inevitable that some will be omitted that other cytogeneticists feel should have been included. The author could probably justifiably be accused of bias. However, based on experience in a laboratory that has used almost every type of assay mentioned in this chapter, the following opinions are offered about their current value in providing a routine malignancy cytogenetics service: 1. The foundation is still a conventional cytogenetic study, preferably with the use of an automated karyotyping system. 2. Added to this, there should be the capability of performing FISH studies using chromosome paints and gene-specific probes. Cytogenetics and FISH form a powerful partnership when backed by experienced cytogeneticists. MFISH or SKY are also useful if the laboratory can afford the considerable extra expense. CGH and fibre FISH are generally better suited to research projects, and at present have few applications in a routine diagnostics service. 3. At present, molecular methods such as RT-PCR mostly tend to produce results that have a greater need of confirmation by other techniques before they can be used for clinical management.

  12. Isolation, proliferation, cytogenetic, and molecular characterization and in vitro differentiation potency of canine stem cells from foetal adnexa: a comparative study of amniotic fluid, amnion, and umbilical cord matrix.

    Science.gov (United States)

    Filioli Uranio, M; Valentini, L; Lange-Consiglio, A; Caira, M; Guaricci, A C; L'Abbate, A; Catacchio, C R; Ventura, M; Cremonesi, F; Dell'Aquila, M E

    2011-05-01

    The possibility to isolate canine mesenchymal stem cells (MSCs) from foetal adnexa is interesting since several canine genetic disorders are reported to resemble similar dysfunctions in humans. In this study, we successfully isolated, cytogenetically and molecularly characterized, and followed the differentiation potency of canine MSCs from foetal adnexa, such as amniotic fluid (AF), amniotic membrane (AM), and umbilical cord matrix (UCM). In the three types of cell lines, the morphology of proliferating cells typically appeared fibroblast-like, and the population doubling time (DT) significantly increased with passage number. For AF- and AM-MSCs, cell viability did not change with passages. In UCM-MSCs, cell viability remained at approximately constant levels up to P6 and significantly decreased from P7 (P < 0.05). Amnion and UCM-MSCs expressed embryonic and MSC markers, such as Oct-4 CD44, CD184, and CD29, whereas AF-MSCs expressed Oct-4, CD44. Expression of the hematopoietic markers CD34 and CD45 was not found. Dog leucocyte antigens (DLA-DRA1 and DLA-79) were expressed only in AF-MSCs at P1. Isolated cells of the three cell lines at P3 showed multipotent capacity, and differentiated in vitro into neurocyte, adipocyte, osteocyte, and chondrocyte, as demonstrated by specific stains and expression of molecular markers. Cells at P4 showed normal chromosomal number, structure, and telomerase activity. These results demonstrate that, in dog, MSCs can be successfully isolated from foetal adnexa and grown in vitro. Their proven stemness and chromosomal stability indicated that MSCs could be used as a model to study stem cell biology and have an application in therapeutic programs.

  13. Cytogenetic Analysis for Research and Services

    National Research Council Canada - National Science Library

    Sultana MH Faradz

    2017-01-01

    .... Cytogenetic analyses are commonly performed to determine both structural and numerical chromosome aberration, whilst changes in chromosomes can lead to birth defects, syndromes, or even cancer...

  14. Sturgeon genetics and cytogenetics: recent advancements and perspectives.

    Science.gov (United States)

    Fontana, F; Tagliavini, J; Congiu, L

    2001-01-01

    The aim of this review is to introduce current knowledge in the field of sturgeon genetics. The first section deals with sturgeon cytogenetics, reviewing karyotype organization and polyploidization events during evolution of Acipenseriformes. The second section concerns the results of applications of molecular biology to studies of phylogenetic relationships between extant species, intraspecific analysis of wild populations and stocks for conservation purposes, together with characterization of molecular markers for species identification, relevant to forensic and conservation issues.

  15. Cytogenetic Characterization of the TM4 Mouse Sertoli Cell Line. II. Chromosome Microdissection, FISH, Scanning Electron Microscopy, and Confocal Laser Scanning Microscopy.

    Science.gov (United States)

    Schmid, Michael; Guttenbach, Martina; Steinlein, Claus; Wanner, Gerhard; Houben, Andreas

    2015-01-01

    The chromosomes and interphase cell nuclei of the permanent mouse Sertoli cell line TM4 were examined by chromosome microdissection, FISH, scanning electron microscopy, and confocal laser scanning microscopy. The already known marker chromosomes m1-m5 were confirmed, and 2 new large marker chromosomes m6 and m7 were characterized. The minute heterochromatic marker chromosomes m4 and m5 were microdissected and their DNA amplified by DOP-PCR. FISH of this DNA probe on TM4 metaphase chromosomes demonstrated that the m4 and m5 marker chromosomes have derived from the centromeric regions of normal telocentric mouse chromosomes. Ectopic pairing of the m4 and m5 marker chromosomes with the centromeric region of any of the other chromosomes (centromeric associations) was apparent in ∼60% of the metaphases. Scanning electron microscopy revealed DNA-protein bridges connecting the centromeric regions of normal chromosomes and the associated m4 and m5 marker chromosomes. Interphase cell nuclei of TM4 Sertoli cells did not exhibit the characteristic morphology of Sertoli cells in the testes of adult mice as shown by fluorescence microscopy and confocal laser scanning microscopy.

  16. A translocation t(6;14) in two cases of leiomyosarcoma: Molecular cytogenetic and array-based comparative genomic hybridization characterization.

    Science.gov (United States)

    de Graaff, Marieke A; de Jong, Daniëlle; Briaire-de Bruijn, Inge H; Hogendoorn, Pancras C W; Bovée, Judith V M G; Szuhai, Károly

    2015-11-01

    Leiomyosarcomas are malignant mesenchymal tumors that recapitulate smooth muscle cell differentiation. Tumors are characterized by a genetic heterogeneity with complex karyotypes without a tumor-specific genetic aberration. Their pathobiology is still poorly understood and no specific targeted treatment is currently available for these aggressive tumors. For six leiomyosarcomas, cells were cultured and analyzed by combined binary ratio labeling fluorescence in situ hybridization (COBRA-FISH) karyotyping. A t(6;14) was identified in two cases. FISH breakpoint mapping of case L1339 reveals a breakpoint at chromosome 6p21.31 close to HMGA1, and a small deletion was observed on the distal side of the gene. A small homozygous deletion was also found in the breakpoint region of chromosome 14q24.1 involving ACTN1. The second case revealed a der(6)t(6;14)(p21.1;q21.3), with a duplication adjacent to the breakpoint at chromosome 6. Confirmatory FISH revealed a second leiomyosarcoma with an aberration at 14q24.1. Alterations at this locus were found in 5% (2 of 39) of the leiomyosarcomas in this study. The other identified breakpoints appeared to be non-recurrent, because they were not detected in other leiomyosarcomas, uterine leiomyomas, undifferentiated spindle cell sarcomas, or undifferentiated pleomorphic sarcomas.

  17. Cytogenetically unrelated clones in hematological neoplasms.

    Science.gov (United States)

    Heim, S; Mitelman, F

    1989-01-01

    We have reviewed literature data on 6,306 cases of hematological neoplasia--acute and chronic lymphatic and myeloid leukemias (CML excepted), myelodysplastic and chronic lymphoproliferative and myeloproliferative disorders, and malignant lymphomas--with the goal of quantitatively ascertaining how often cytogenetically unrelated clones occur in these diseases. Unexpectedly wide variations were found: in ANLL, unrelated clones were present in 1.1% of the 2,506 known cases with chromosome abnormalities characterized with banding technique; in the various myelodysplastic (MDS) and chronic myeloproliferative (CMD) disorders (total number of cases 1,299) the frequency was 4.3% and in lymphatic malignancies 1.3% (total case number 2,501). In the latter group the proportions varied between 0.4% and 0.6% in ALL and malignant lymphoma (ML) to as much as 6.2% in CLD and 7.3% in CLL. Some karyotypic abnormalities were encountered more often than would be expected from their general frequency in the various diseases. This discrepancy was particularly evident in MDS and CMD, where 5q- was found in slightly less and +8 in somewhat more than half of the 56 cases. Furthermore, these two aberrations were found as the only changes in the two coexisting clones in one-fourth of the material. Although if viewed in isolation these data would undoubtedly be best explained by assuming a multicellular origin of the neoplasm, it is entirely possible that what are cytogenetically perceived as unrelated clones could be subclones with some invisible aberration in common. If so, this interpretation indicates that changes like +8 and 5q-, both of which are common rearrangements in bone marrow neoplasms, are actually secondary changes that develop during tumor progression.

  18. [Human cytogenetics. From 1956 to 2006].

    Science.gov (United States)

    Berger, R

    2007-02-01

    The correct enumeration of human chromosomes, only established in 1956, has marked the starting point of the modern cytogenetics. The introduction of banding techniques, then of in situ hybridization techniques, and now of genomic microarray technology allowed a dramatic development of cytogenetics of which the main applications to basic and medical research are evoked in this review.

  19. Solid tumor cytogenetics: current perspectives.

    Science.gov (United States)

    Nanjangud, Gouri; Amarillo, Ina; Rao, P Nagesh

    2011-12-01

    Conventional cytogenetics in conjunction with Fluorescence in Situ Hybridization (FISH) continues to remain an important and integral component in the diagnosis and management of solid tumors. The ability to effectively detect the vast majority of clinically relevant chromosomal aberrations with a rapid-to-acceptable turnaround time makes them the most cost-effective screening/detection tool currently available in modern pathology. In this review, we describe a representative set of solid tumors in which chromosomal analysis and/or FISH plays a significant role in the routine clinical management of solid tumors.

  20. RBE: Mechanisms inferred from cytogenetics

    Science.gov (United States)

    Goodwin, E. H.; Cornforth, M. N.

    1994-10-01

    Cyclotron-accelerated heavy ion beams provide a fine degree of control over the physical parameters of radiation. Cytogenetics affords a view into the irradiated cell at the resolution of chromosomes. Combined they form a powerful means to probe the mechanisms of RBE. Cytogenetic studies with high energy heavy ion beams reveal three LET-dependent trends for 1) level of initial damage, 2) distribution of damage among cells, and 3) lesion severity. The number of initial breaks per unit dose increases from a low-LET plateau to a peak at ~180 keV/μm and declines thereafter. Overdispersion of breaks is significant above ~100 keV/μm. Lesion severity, indicated by the level of chromosomal fragments that have not restituted even after long repair times, increases with LET. Similar studies with very low energy 238Pu alpha particles (120 keV/μm) reveal higher levels of initial breakage per unit dose, fewer residual fragments and a higher level of misrepair when compared to high energy heavy ions at the same LET. These observations would suggest that track structure is an important factor in genetic damage in addition to LET.

  1. CARACTERIZACIÓN CITOGENÉTICA EN INDIVIDUOS DEL GÉNERO Lagothrix EN COLOMBIA (PRIMATES: ATELIDAE Cytogenetic Characterization in Individuals of the Genus Lagothrix in Colombia (Primates: Atelidae

    Directory of Open Access Journals (Sweden)

    LAURA YISSEL RENGIFO

    2011-08-01

    Full Text Available El género Lagothrix se encuentra representado en Colombia por Lagothrix lagothricha lagothricha y Lagothrix lagothricha lugens y siendo un género llamativo para el tráfico y caza, se han realizado varios trabajos encaminados a conocer sobre su ecología y ciclo de vida mostrando la importancia de este género en el ecosistema aunque sus características citogenéticas no han sido bien estudiadas. En este trabajo se analizaron 18 individuos (seis, L. l. lugens y 12 L. L. lagothricha en cautiverio provenientes de zoológicos y centros de rescate, en los que por medio de técnicas de cultivo de sangre periférica y bandaje cromosómico G, C, R, Q y NOR se determinó un cariotipo estándar de 2n=62 para todos los individuos con dos variantes de éste también conocidos como cariomorfos que se originan por la diferencia en su número fundamental (NF, debido a una inversión pericéntrica en el par cromosómico 24. Dentro de estos cariomorfos se encontraron polimorfismos en varios pares cromosómicos que no fueron determinantes para diferenciar subespecies en los individuos trabajados, por lo que se recomienda revisar la taxonomía del género.The genus Lagothrix is represented in Colombia by Lagothrix lagothricha lagothricha and Lagothrix lagothricha lugens but their cytogenetic features have not been well characterized. We studied 18 captive individuals (6, L. l. lugens and 12, L. L. lagothricha from zoos and rescue centers, using techniques of peripheral blood culture and G, C, R, Q and NOR chromosome banding. We determined the standard karyotype 2n = 62 for all analyzed individuals with two karyotype variants (also known as karyomorphs that showed different fundamental numbers due to a pericentric inversion on chromosome pair 24. Within these karyomorphs other polymorphisms were found in several pairs that were not crucial to distinguishing subspecies. We recommend reviewing the taxonomy of the genus especially at the subspecies level.

  2. Human molecular cytogenetics: From cells to nucleotides.

    Science.gov (United States)

    Riegel, Mariluce

    2014-03-01

    The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. This manuscript does not present a detailed history of the development of molecular cytogenetics; however, references to historical reviews and experiments have been provided whenever possible. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed.

  3. Human molecular cytogenetics: from cells to nucleotides

    Directory of Open Access Journals (Sweden)

    Mariluce Riegel

    2014-01-01

    Full Text Available The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH, a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. This manuscript does not present a detailed history of the development of molecular cytogenetics; however, references to historical reviews and experiments have been provided whenever possible. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed.

  4. Molecular cytogenetic analysis of dicentric chromosomes in acute myeloid leukemia.

    Science.gov (United States)

    Sarova, Iveta; Brezinova, Jana; Zemanova, Zuzana; Ransdorfova, Sarka; Izakova, Silvia; Svobodova, Karla; Pavlistova, Lenka; Berkova, Adela; Cermak, Jaroslav; Jonasova, Anna; Siskova, Magda; Michalova, Kyra

    2016-04-01

    Dicentric chromosomes (DCs) have been described in many hematological diseases, including acute myeloid leukemia (AML). They are markers of cancer and induce chromosomal instability, leading to the formation of other chromosomal aberrations and the clonal evolution of pathological cells. Our knowledge of the roles and behavior of human DCs is often derived from studies of induced DCs and cell lines. It is difficult to identify all the DCs in the karyotypes of patients because of the limitations of metaphase cytogenetic methods. The aim of this study was to revise the karyotypes of 20 AML patients in whom DCs were found with conventional G-banding or multicolor fluorescence in situ hybridization (mFISH) with (multi)centromeric probes and to characterize the DCs at the molecular cytogenetic level. FISH analyses confirmed 23 of the 29 expected DCs in 18 of 20 patients and identified 13 others that had not been detected cytogenetically. Fourteen DCs were altered by other chromosomal changes. In conclusion, karyotypes with DCs are usually very complex, and we have shown that they often contain more than one DC, which can be missed with conventional or mFISH methods. Our study indicates an association between number of DCs in karyotype and very short survival of patients.

  5. Cytogenetic effects of orthopedic constructions

    Directory of Open Access Journals (Sweden)

    Scheremetjeva A.S.

    2012-06-01

    Full Text Available Research objective: To estimate cytogenetic effect of dentures on the condition of buccal epithelium by means of the micronuclear test. Materials and methods: For this test the most convenient object of the research is nonkeratinized stratified epithelium which has been taken from 24 patients before prosthetics. Statistical data processing has been done by means of a package of statistical programs «Stadia». Results: The increase in frequency of occurrence of cells with micronuclei in buccal epithelium in patients after the prosthetics that testifies to stability disturbance of genetic material in the studied cells. Influence of fillings and dentures has been revealed. Conclusion: It allows to apply safe materials in stomatology, having reduced their side effects on an organism as a whole

  6. Brown Swiss cattle cytogenetic analysis

    Directory of Open Access Journals (Sweden)

    Rita Maria Ladeira Pires

    2010-02-01

    Full Text Available At 1985, a Brown Swiss herd from the Institute of Animal Science and Pastures, APTA/ SAA was cytogenetically analyzed and 1/29 Robertsonian translocation was observed. Such anomaly is related to fertility reduction. Quimeric abnormality such as 60,XX/60,XY in freemartin females. This study aimed to evaluate the incidence of cromossomic abnormalities in Brown Swiss animals, descending form herd karyotyped earlier. After 25 years, 127 animals (97 females and 30 males from this herd were karyotyped by metaphases obtained from blood lymphocyte cultures. The typical diploid number 2n=60, 58 acrocentric and two X submetacentric chromosomes were confirmed in 94 females and in 27 males the sexual complement X and Y, both submetacentric, although from different sizes. Four females from gemelar parturition whit males were karyotyped. Three of them presented quimerism 60,XX/60,XY (one with 25.8% of female cells (XX and 74.2% male cells (XY; one another with 10% of cells XX e 90% of XY and the third with 50% of each type showing genital masculinization, diagnosed as freemartism and discarded from herd. Two hundred and five cells were analyzed from another female twins and only 60,XX cells were found, diagnosed as normal. His sister also were normal (60,XY. The another three males were also analyzed from gemelar heterosexual parturition, with karyotype 60,XX/60,XY. Cytogenetic analysis are a safe methodology for freemartin abnormalities identification in female bovine twins with male bovine, giving the opportunity of selecting fertile animals, avoiding loses in the management of sterile animals. Robertsonian’s translocation was not observed in any of the animals analyzed.

  7. An Electric Method for Qualifying Cytogenetic Slides

    Directory of Open Access Journals (Sweden)

    Saeed Khamnei

    2011-01-01

    Full Text Available Cytogenetics is a branch of genetics that involves critical applications in medical decisions. The procedures involved take cells with chromosomes and rupture them on the slide to release their chromosomes in metaphase spreadings. Usually the slide contains few metaphase spreadings and plenty of intact cells, so finding and analyzing metaphase spreadings are difficult. It is for this reason that many investigations search for innovations that optimize chromosome spreading and facilitate cytogenetic studies. To aid rupturing cells in cytogenetic slide preparation, Pulsed Electric Fields (PEFs could be used. PEFs are a kind of electric fields, which affect the cell membrane in a way that can lead to cell lysis. These effects are currently the basis of applications such as nonthermal pasteurization. Therefore, applying PEFs to cell suspension of the cytogenetic experiments would probably lyse all the cells, yielding a clear slide with many metaphase spreadings.

  8. Cytogenetics of jaw cysts - a pilot study.

    Science.gov (United States)

    Manor, Esther; Brennan, Peter A; Bodner, Lipa

    2012-07-01

    The pathogenesis of cysts that arise in the jaws is still not certain, and the underlying mechanisms of epithelial proliferation are not fully understood. Cysts of the jaw may involve a reactive, inflammatory, or neoplastic process. Cytogenetics, the study of the number and structure of chromosomes, has provided valuable information about the diagnosis, prognosis, and targeted treatment in many cancers, including oral squamous cell carcinoma. Cytogenetics can also provide information about the possible aetiology or neoplastic potential of a lesion, though to our knowledge no studies of this technique have been used for cysts in the jaws. In this pilot study we used cytogenetics in a series of 10 cysts (3 radicular, 4 dentigerous, 2 of the nasopalatine duct, and 1 dermoid). In all cases we found normal karyotypes. Further work and larger numbers are needed for a definitive study, but we can hypothesise from this pilot study that these cysts do not have cytogenetic aberrations and so have no neoplastic potential.

  9. Human molecular cytogenetics: from cells to nucleotides

    OpenAIRE

    2014-01-01

    The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The f...

  10. Cytogenetic risk stratification in chronic myelomonocytic leukemia

    Science.gov (United States)

    Such, Esperanza; Cervera, José; Costa, Dolors; Solé, Francesc; Vallespí, Teresa; Luño, Elisa; Collado, Rosa; Calasanz, María J.; Hernández-Rivas, Jesús M.; Cigudosa, Juan C.; Nomdedeu, Benet; Mallo, Mar; Carbonell, Felix; Bueno, Javier; Ardanaz, María T.; Ramos, Fernando; Tormo, Mar; Sancho-Tello, Reyes; del Cañizo, Consuelo; Gómez, Valle; Marco, Victor; Xicoy, Blanca; Bonanad, Santiago; Pedro, Carmen; Bernal, Teresa; Sanz, Guillermo F.

    2011-01-01

    Background The prognostic value of cytogenetic findings in chronic myelomonocytic leukemia is unclear. Our purpose was to evaluate the independent prognostic impact of cytogenetic abnormalities in a large series of patients with chronic myelomonocytic leukemia included in the database of the Spanish Registry of Myelodysplastic Syndromes. Design and Methods We studied 414 patients with chronic myelomonocytic leukemia according to WHO criteria and with a successful conventional cytogenetic analysis at diagnosis. Different patient and disease characteristics were examined by univariate and multivariate methods to establish their relationship with overall survival and evolution to acute myeloid leukemia. Results Patients with abnormal karyotype (110 patients, 27%) had poorer overall survival (P=0.001) and higher risk of acute myeloid leukemia evolution (P=0.010). Based on outcome analysis, three cytogenetic risk categories were identified: low risk (normal karyotype or loss of Y chromosome as a single anomaly), high risk (presence of trisomy 8 or abnormalities of chromosome 7, or complex karyotype), and intermediate risk (all other abnormalities). Overall survival at five years for patients in the low, intermediate, and high risk cytogenetic categories was 35%, 26%, and 4%, respectively (P<0.001). Multivariate analysis confirmed that this new CMML-specific cytogenetic risk stratification was an independent prognostic variable for overall survival (P=0.001). Additionally, patients belonging to the high-risk cytogenetic category also had a higher risk of acute myeloid leukemia evolution on univariate (P=0.001) but not multivariate analysis. Conclusions Cytogenetic findings have a strong prognostic impact in patients with chronic myelomonocytic leukemia. PMID:21109693

  11. Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches.

    Science.gov (United States)

    Abdel-Rahman, Sherif Z; El-Zein, Randa A

    2011-08-01

    Mutagen sensitivity, measured in short-term cultures of peripheral blood lymphocytes by cytogenetic endpoints, is an indirect measure for DNA repair capacity and has been used for many years as a biomarker for intrinsic susceptibility for cancer. In this article, we briefly give an overview of the different cytogenetic mutagen sensitivity approaches that have been used successfully to evaluate the biological effects of polymorphisms in DNA repair genes based on a current review of the literature and based on the need for biomarkers that would allow the characterization of the biological and functional significance of such polymorphisms. We also address some of the future challenges facing this emerging area of research.

  12. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H|info:eu-repo/dai/nl/23639195X; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin|info:eu-repo/dai/nl/183050487; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron|info:eu-repo/dai/nl/117339067; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P|info:eu-repo/dai/nl/304076953; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    2017-01-01

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing re

  13. Molecular cytogenetic definition of the chicken genome: the first complete Avian Karyotype

    NARCIS (Netherlands)

    Masabanda, J.S.; Burt, D.W.; O'Brien, P.C.M.; Vignal, A.; Fillon, V.; Walsh, P.S.; Cox, H.; Tempest, H.G.; Smit, J.; Habermann, F.; Schmidt, M.; Matsuda, Y.; Ferguson-Smith, M.A.; Crooijmans, R.P.M.A.; Groenen, M.A.M.; Griffin, D.K.

    2004-01-01

    Chicken genome mapping is important for a range of scientific disciplines. The ability to distinguish chromosomes of the chicken and other birds is thus a priority. Here we describe the molecular cytogenetic characterization of each chicken chromosome using chromosome painting and mapping of

  14. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M. H. F.; Brilstra, Eva H.; Brown, Chester W.; Bruggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B. A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Mendoza, Cinthya J. Zepeda; Menten, Bjorn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Pina Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L. P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M. L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E.

    2017-01-01

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing re

  15. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    NARCIS (Netherlands)

    Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

    2016-01-01

    Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing re

  16. Significance of FISH in clinical cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Gopal Rao, V.V.N.; Harris, S.; Roop, H. [H.A. Chapman Institute of Medical Genetics, Tulsa, OK (United States)] [and others

    1994-09-01

    Ever since its discovery, FISH technology has become an invaluable adjunct to conventional cytogenetics. FISH has been instrumental in resolving previously unresolved cytogenetic dilemmas. FISH has been used to elucidate complex as well as subtle chromosomal translocations, in detection of microdeletions, to confirm duplications and inversions and to identify marker chromosomes. We report a few selected cases where FISH proved to be invaluable in not only confirming the anomaly, but also in arriving at an accurate diagnosis and appropriate counseling of the patients. These include 3 cases of prenatal and 3 cases of postnatal diagnosis. The results clearly demonstrate the significance of FISH in identifying and interpreting the difficult karyotype in clinical cytogenetics. In addition, FISH has been used to rule out microdeletions in Prader-Willi (16), Angelman (3), Miller-Dieker (7), DiGeorge (4) and Smith-Magenis (1) syndrome patients. Without FISH in the majority of these cases, it would not have been possible to accurately identify the karyotype and interpret the results. Hence, we recommend that FISH be used as a powerful adjunct to conventional cytogenetics in order to arrive at an accurate interpretation of the results but not to replace routine cytogenetic studies.

  17. Cytogenetics and chromosomes of tapeworms (Platyhelminthes, Cestoda).

    Science.gov (United States)

    Spakulová, Marta; Orosová, Martina; Mackiewicz, John S

    2011-01-01

    Tapeworms (Cestoda, Platyhelminthes) are a highly diversified group of parasites that can have significant veterinary importance as well as medical impact as disease agents of human alveococcosis, hydatidosis, taeniosis/cysticercosis/neurocysticercosis, hymenolepidosis or diphyllobothriasis. Because of their great diversity, there has been keen interest in their phylogenetic relationships to other obligate parasitic platyhelminthes, as well as within the group itself. Recent phylogenetic analyses of cestodes, however, have focused on morphological, molecular, life cycle, embryology and host-specificity features and conspicuously omitted inclusion of karyological data. Here we review the literature from 1907 to 2010 and the current status of knowledge of the chromosomes and cytogenetics within all of the cestode orders and place it within an evolutionary perspective. Karyological data are discussed and tabulated for 115 species from nine eucestode orders with ideograms of 46 species, and a comparison of cytogenetic patterns between acetabulate and bothriate cestode lineages is made. Attention is drawn to gaps in our knowledge for seven remaining orders and cestodarian groups Gyrocotylidea and Amphilinidea. Among the cytogenetic aspects covered are: chromosome number, triploidy, classical karyotype cytogenetics (banding patterns, karyotype asymmetry, secondary constrictions), as well as advanced karyotype techniques allowing location of genes on chromosomes by fluorescence in situ hybridization. We demonstrate that further progress in cestode karyosystematics rests with new molecular approaches and the application of advanced cytogenetic markers facilitating intimate karyotype analysis.

  18. Canine cytogenetics--from band to basepair.

    Science.gov (United States)

    Breen, M

    2008-01-01

    Humans and dogs have coexisted for thousands of years, during which time we have developed a unique bond, centered on companionship. Along the way, we have developed purebred dog breeds in a manner that has resulted unfortunately in many of them being affected by serious genetic disorders, including cancers. With serendipity and irony the unique genetic architecture of the 21st century genome of Man's best friend may ultimately provide many of the keys to unlock some of nature's most intriguing biological puzzles. Canine cytogenetics has advanced significantly over the past 10 years, spurred on largely by the surge of interest in the dog as a biomedical model for genetic disease and the availability of advanced genomics resources. As such the role of canine cytogenetics has moved rapidly from one that served initially to define the gross genomic organization of the canine genome and provide a reliable means to determine the chromosomal location of individual genes, to one that enabled the assembled sequence of the canine genome to be anchored to the karyotype. Canine cytogenetics now presents the biomedical research community with a means to assist in our search for a greater understanding of how genome architectures altered during speciation and in our search for genes associated with cancers that affect both dogs and humans. The cytogenetics 'toolbox' for the dog is now loaded. This review aims to provide a summary of some of the recent advancements in canine cytogenetics.

  19. Applications of SKY in cancer cytogenetics.

    Science.gov (United States)

    Bayani, Jane M; Squire, Jeremy A

    2002-01-01

    Clinical and cancer cytogenetics is a rapidly evolving discipline. The past decade has seen a dramatic change in molecular biology and fluorescence microscopy. The use of fluorescence in situ hybridization (FISH) technologies has enabled the rapid analysis of cytogenetic specimens as an adjunct to classical cytogenetic analysis. Spectral karyotyping (SKY) is a 24-color, multi-chromosomal painting assay that allows the visualization of all human chromosomes in one experiment. The ability for SKY analysis to detect equivocal or complex chromosomal rearrangements, as well as to identify the chromosomal origins of marker chromosomes and other extra-chromosomal structures, makes this a highly sensitive and valuable tool for identifying recurrent chromosomal aberrations. The SKY has been applied to various tumor groups including hematological malignancies, sarcomas, carcinomas and brain tumors, with the intent of identifying specific chromosomal abnormalities that may provide insight to the genes involved in the disease process as well as identifying recurrent cytogenetic markers for clinical diagnosis and prognostic assessment. The SKY has also been applied for the mouse genome, enabling investigators to extrapolate information from mouse models of cancer to their human counterparts. This review will address the advances that SKY has facilitated in the field of cancer cytogenetics, as well as its variety of application in the cancer research laboratories.

  20. [Cytogenetic maps and their applications in plants].

    Science.gov (United States)

    Xiong, Huai-Yang; Zhao, Li-Juan; Li, Li-Jia

    2005-07-01

    Integrated cytogenetic maps encompass the information from both genetic maps and cytological maps. It is possible for cytogenetic maps to simultaneously report the cytological and genetic position of a maker. To constructure cytogenetic maps it is necessary to relate the markers mapped across linkage groups to cytological position on chromosomes. Cytogenetic maps have been constructured primarily in two ways. The first general strategy is to utilize the chromosome breakpoints to determine the location of genetically mapped markers on the chromosomes. A second way is by the direct hybridization of genetically mapped sequences onto chromosomes by FISH. In addition, a novel approach is to use RN-cM maps to predict the physical position of genetic markers on the chromosomes. Cytogenetic maps suggest that both the density of genes and the frequency of recombination increase towards the distal regions of chromosome arms, and they play significant roles in revealing gene colinearity between two species, exploring the evolution relationship between both of them and in map-based gene isolation.

  1. 42 CFR 493.1225 - Condition: Clinical cytogenetics.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 5 2010-10-01 2010-10-01 false Condition: Clinical cytogenetics. 493.1225 Section... Testing § 493.1225 Condition: Clinical cytogenetics. If the laboratory provides services in the specialty of Clinical cytogenetics, the laboratory must meet the requirements specified in §§ 493.1230...

  2. Molecular cytogenetics and its applications to soft tissue tumor analysis.

    Science.gov (United States)

    D'Amato, L

    1995-01-01

    Cytogenetic analyses have demonstrated the association of specific chromosomal changes with particular types of soft tissue tumors. This work describes the molecular cytogenetic approaches to genetic analysis of these tumors. It illustrates how molecular cytogenetics may provide a rapid and sensitive method of diagnosis and can contribute to identify specific genes implied in the aetiology of soft tissue tumors.

  3. Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas

    Directory of Open Access Journals (Sweden)

    Jun Nishio

    2011-01-01

    Full Text Available Myxoid soft-tissue sarcomas represent a heterogeneous group of mesenchymal tumors characterized by a predominantly myxoid matrix, including myxoid liposarcoma (MLS, low-grade fibromyxoid sarcoma (LGFMS, extraskeletal myxoid chondrosarcoma (EMC, myxofibrosarcoma, myxoinflammatory fibroblastic sarcoma (MIFS, and myxoid dermatofibrosarcoma protuberans (DFSP. Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP. Moreover, recent molecular analysis has demonstrated a translocation t(1; 10(p22; q24 resulting in transcriptional upregulation of FGF8 and NPM3 in MIFS. Most recently, the presence of TGFBR3 and MGEA5 rearrangements has been identified in a subset of MIFS. These genetic alterations can be utilized as an adjunct in diagnostically challenging cases. In contrast, most myxofibrosarcomas have complex karyotypes lacking specific genetic alterations. This paper focuses on the cytogenetic and molecular genetic findings of myxoid soft-tissue sarcomas as well as their clinicopathological characteristics.

  4. Cytogenetic findings in metastases from colorectal cancer

    DEFF Research Database (Denmark)

    Bardi, G; Parada, L A; Bomme, L;

    1997-01-01

    Eighteen tumor samples from 11 patients with metastatic colorectal cancer were cytogenetically analyzed after short-term culturing. Of the 13 metastases examined, 11 were from lymph nodes, 1 from the peritoneum and 1 from the lung. In 5 of the 11 patients, matched samples from the primary tumor...... and lymph node metastases were analyzed. Cytogenetic similarities between the primary and secondary lesions were found in all 5 cases, indicating that many of the chromosomal aberrations presumably occurred before disease spreading took place. Compared with the primaries, the metastases appeared to exhibit...

  5. Current applications of molecular cytogenetic technologies.

    Science.gov (United States)

    Mark, H F; Jenkins, R; Miller, W A

    1997-01-01

    This review discusses select current applications of fluorescent in situ hybridization (FISH) which may be of utility for the average clinical cytogenetic laboratory. Owing to the large number of men and women affected, the applications chosen to illustrate the use of FISH technology in cancer focus on two diseases: breast cancer and prostate cancer. The applicability of FISH to detect common aneuploidies, such as trisomy 21, trisomy 18, trisomy 13 and the sex chromosome aneuploidies in prenatal diagnosis, is discussed, as well as FISH for the detection of microdeletions and microduplications. Quality assurance/quality control issues and standards and guidelines relating to laboratory practices in molecular cytogenetic testing are reviewed.

  6. DNA hybridization sensing for cytogenetic analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dapra, Johannes; Brøgger, Anna Line;

    2013-01-01

    Cytogenetic analysis focuses on studying the cell structure, mainly in respect to chromosome content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders, but are also associated with heametological malignancies. Chromosome translocations...... for cheaper detection a label-free approach has been investigated using electrochemical impedance spectroscopy as a sensing method. We present here our recent results in regards to DNA sensing on metallic and conductive polymer electrodes for translocation detection. Our sensors are inexpensive and can...... be successfully applied in cytogenetic analysis as a replacement of standard techniques....

  7. The current state of molecular cytogenetics in cancer diagnosis.

    Science.gov (United States)

    Liehr, Thomas; Othman, Moneeb A K; Rittscher, Katharina; Alhourani, Eyad

    2015-04-01

    Cytogenetics and molecular cytogenetics are and will continue to be indispensable tools in cancer diagnostics. Leukemia and lymphoma diagnostics are still emphases of routine (molecular) cytogenetics and corresponding studies of solid tumors gain more and more prominence. Here, first a historical perspective of molecular tumor cytogenetics is provided, which is followed by the basic principles of the fluorescence in situ hybridization (FISH) approach. Finally the current state of molecular cytogenetics in cancer diagnostics is discussed. Nowadays routine diagnostics includes basic FISH approaches rather than multicolor-FISH. The latter together with modern high-throughput methods have their impact on research to identify new tumor-associated genomic regions.

  8. Fifty years of cytogenetics: a parallel view of the evolution of cytogenetics and genotoxicology.

    Science.gov (United States)

    Garcia-Sagredo, J M

    2008-01-01

    A parallelism exists between human cytogenetics and cytogenetic toxicology. The breakthroughs, mostly coming from and used in clinical genetics, are widely used in genetic toxicology. The birth of human cytogenetics occurred in 1956 when it was published that the diploid number of chromosomes in humans is 46. The first stage in chromosome-induced mutagenesis began in 1938 when Sax published the effects of X-rays on the chromosomes of Drosophila. In 1959, the cytogenetic anomalies for Down, Klinefelter, and Turner syndromes were described, and parallelly in 1960, the first publication on chromosomal aberrations in man caused by ionizing radiation appeared. The cytogenetic analysis of chromosomal aberrations in cell cultures is considered one of the primary methods to evaluate induced mutagenesis. At the end of the 1960s, banding techniques allowed chromosomes to be individually identified, in parallel, the sister chromatid exchange analysis technology was described. Another milestone in the history of induced mutagenesis was the discovery that mutagenic agents were able to alter chromosomal division and segregation in gonads inducing meiotic nondisjunction. Here we review new approaches and applications such as biological dosimetry, translocation scoring using FISH, and micronucleus test. Chromosomal aberrations and micronucleus test are now effective cytogenetic biomarkers of early effect used as cancer predictors. Human cytogenetics has proven to be effective over its 50-year lifespan and, although each new technique that has appeared seemed to announce its end, the fact is that the current state of cytogenetics is in reality a collection of techniques that, while common, are cheap, fast, and wide-ranging. Therefore, in genotoxicology, they continue to be useful to identify mutagenic agents as well as to evaluate and analyze exposed populations.

  9. The use of microarray technology for cytogenetics.

    Science.gov (United States)

    Bejjani, Bassem A; Shaffer, Lisa G; Ballif, Blake C

    2010-01-01

    The use of microarray technology is revolutionizing the field of clinical cytogenetics. This new technology has transformed the cytogenetics laboratory by adapting techniques that have heretofore been the province of molecular geneticists. Intimate knowledge and comfortable familiarity with these techniques are now a must for the modern cytogeneticist, rather than a stimulating but discretionary intellectual exercise or an elective luxury. The cytogenetic laboratory of the future will likely have more scanners than microscopes, more software packages than darkrooms, and more technologists, supervisors, and directors with molecular training than ever before. This technical convergence between molecular diagnostics and clinical cytogenetics is exciting and has already resulted in many stimulating discoveries. However, the traditional skills of the cytogeneticist are needed now more than ever before. As our ability to inspect the genome increases, so does the variety of abnormalities that we uncover. Understanding the mechanisms of these aberrations to guide additional testing of the parents and genetic counseling of the patients and their families requires the expertise of individuals who are well-versed in meiotic mechanisms and chromosomal structures that may lead to these abnormalities. Cytogeneticists are uniquely positioned to understand these mechanisms and assist genetic counselors and clinicians in their daily interactions with patients and families.

  10. Methods in molecular biology: plant cytogenetics

    Science.gov (United States)

    Cytogenetic studies have contributed greatly to our understanding of genetics, biology, reproduction, and evolution. From early studies in basic chromosome behavior the field has expanded enabling whole genome analysis to the manipulation of chromosomes and their organization. This book covers a ran...

  11. Cytogenetic Biodosimetry for Radiation Disasters: Recent Advances

    Science.gov (United States)

    2005-01-01

    Radiation exposure induces many types of chromosomal aberrations in the exposed individual’s peripheral blood lymphocytes. The presence of dicentrics , a... chromosomal structural aberration, in an individual’s pe- ripheral blood lymphocytes indicates radiation exposure. Dicentrics are considered relatively...method. This cytogenetic chromosome aberration bioassay is a thoroughly investigated biodosimetry method. The dicentric assay is conventionally

  12. Cytogenetic Analysis for Research and Services

    Directory of Open Access Journals (Sweden)

    Sultana MH Faradz

    2017-02-01

    Full Text Available Abstract That the correct chromosome number in man is 46 was first recognized by Tjio and Levan in 1956. Perhaps few Indonesians know that Tjio was an Indonesian scientist studying in Sweden and then living in the US. Cytogenetic analyses are commonly performed to determine both structural and numerical chromosome aberration, whilst changes in chromosomes can lead to birth defects, syndromes, or even cancer.  Several chromosomal aneuploidy syndromes were identified after the establishment of various chromosome banding techniques in late 1960’s.  Specific cell culture media was found to express fragile site in the beginning of 1970’s and since then, inherited Fragile X Mental Retardation syndrome could be diagnosed.  However, some female permutation cases have been often misdiagnosed. Further molecular analysis has resolved this problem by revealing more CGG repeats in the promoter region FMR1 gene, which is related to the expression of fragile site and the severity of the diseases. In Disorder of Sex Development (DSD, early gender assignment and reconstruction surgery has been challenged because of the dilemma of gender identity development in later life. Cytogenetic analysis for the first-line gender assignment is important in newborn with DSD. Proper diagnosis with hormonal and mutation analysis should be elucidated to avoid medical, psychological, and social aspect in adult life. The most frequent genetic cases in our clinical experiences have been Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia. Female Complete Androgen Insensitivity Syndrome (CAIS with main symptom primary amenorrhea without cytogenetic analysis has often been diagnosed as inguinal hernia because of testicle location and size. Diagnosis and treatment of several leukemias and lymphomas, as well as some solid tumors, depend on cytogenetic analyses to demonstrate consistent, specific chromosomal aberrations. Chromosome analysis in hematologic

  13. Cytogenetic studies of three Lycosidae species from Argentina (Arachnida, Araneae

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    María A. Chemisquy

    2008-01-01

    Full Text Available Cytogenetic studies of the family Lycosidae (Arachnida: Araneae are scarce. Less than 4% of the described species have been analyzed and the male haploid chromosome numbers ranged from 8+X 1 X 2 to 13+X 1 X 2 . Species formerly classified as Lycosa were the most studied ones. Our aim in this work was to perform a comparative analysis of the meiosis in " Lycosa " erythrognatha Lucas, " Lycosa " pampeana Holmberg and Schizocosa malitiosa (Tullgren. We also compared male and female karyotypes and characterized the heterochromatin of " L. " erythrognatha . The males of the three species had 2n = 22, n = 10+X 1 X 2 , all the chromosomes were telocentric and there was generally a single chiasma per bivalent. In " Lycosa " pampeana , which is described cytogenetically for the first time herein, the bivalents and sex chromosomes showed a clustered arrangement at prometaphase I. The comparison of the male/female karyotypes (2n = 22/24 of " Lycosa " erythrognatha revealed that the sex chromosomes were the largest of the complement and that the autosomes decreased gradually in size. The analysis of the amount, composition and distribution of heterochromatin with C-banding and staining with DAPI- and CMA 3 - showed that " Lycosa " erythrognatha had little GC-rich heterochromatin in the pericentromeric region of all chromosomes. In addition, the actual occurrence of the genus Lycosa in the Southern Hemisphere is discussed.

  14. Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

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    Seda Ates

    2016-09-01

    Full Text Available Aim: Premature ovarian insufficiency (POI is characterized as amenorrhea for more than 6 months, occurring before the age of 40, with an increased follicle-stimulating hormone and low estrogen concentrations. The aim of our study is to determine the types and distribution of cytogenetic abnormalities among women with POI. Material and Method: The study is based on the retrospective karyotype analysis of 65 women with idiopathic POI referred to the Medical Genetics Department at the Bezmialem Vakif University Hospital. Results: Chromosomal abnormalities were present in 12 of 65 cases (18.4%. All of them had numerical abnormalities of the X chromosome. The most frequently detected abnormalities were X chromosome mosaicisms. Two cases had fragile X premutation carriers. Eight (12.3% women were considered as familial POI. Discussion: Our results underline the essential role of the X chromosome in the etiology of POI. Therefore, regardless of clinical features and woman%u2019s age, cytogenetic investigations should be routinely performed in cases with POI.

  15. Molecular cytogenetic characterization of canine histiocytic sarcoma: A spontaneous model for human histiocytic cancer identifies deletion of tumor suppressor genes and highlights influence of genetic background on tumor behavior

    Directory of Open Access Journals (Sweden)

    Abadie Jerome

    2011-05-01

    Full Text Available Abstract Background Histiocytic malignancies in both humans and dogs are rare and poorly understood. While canine histiocytic sarcoma (HS is uncommon in the general domestic dog population, there is a strikingly high incidence in a subset of breeds, suggesting heritable predisposition. Molecular cytogenetic profiling of canine HS in these breeds would serve to reveal recurrent DNA copy number aberrations (CNAs that are breed and/or tumor associated, as well as defining those shared with human HS. This process would identify evolutionarily conserved cytogenetic changes to highlight regions of particular importance to HS biology. Methods Using genome wide array comparative genomic hybridization we assessed CNAs in 104 spontaneously occurring HS from two breeds of dog exhibiting a particularly elevated incidence of this tumor, the Bernese Mountain Dog and Flat-Coated Retriever. Recurrent CNAs were evaluated further by multicolor fluorescence in situ hybridization and loss of heterozygosity analyses. Statistical analyses were performed to identify CNAs associated with tumor location and breed. Results Almost all recurrent CNAs identified in this study were shared between the two breeds, suggesting that they are associated more with the cancer phenotype than with breed. A subset of recurrent genomic imbalances suggested involvement of known cancer associated genes in HS pathogenesis, including deletions of the tumor suppressor genes CDKN2A/B, RB1 and PTEN. A small number of aberrations were unique to each breed, implying that they may contribute to the major differences in tumor location evident in these two breeds. The most highly recurrent canine CNAs revealed in this study are evolutionarily conserved with those reported in human histiocytic proliferations, suggesting that human and dog HS share a conserved pathogenesis. Conclusions The breed associated clinical features and DNA copy number aberrations exhibited by canine HS offer a valuable model

  16. The history of human cytogenetics in India-A review.

    Science.gov (United States)

    Dutta, Usha R

    2016-09-10

    It is 60years since the discovery of the correct number of chromosomes in 1956; the field of cytogenetics had evolved. The late evolution of this field with respect to other fields is primarily due to the underdevelopment of lenses and imaging techniques. With the advent of the new technologies, especially automation and evolution of advanced compound microscopes, cytogenetics drastically leaped further to greater heights. This review describes the historic events that had led to the development of human cytogenetics with a special attention about the history of cytogenetics in India, its present status, and future. Apparently, this review provides a brief account into the insights of the early laboratory establishments, funding, and the German collaborations. The details of the Indian cytogeneticists establishing their labs, promoting the field, and offering the chromosomal diagnostic services are described. The detailed study of chromosomes helps in increasing the knowledge of the chromosome structure and function. The delineation of the chromosomal rearrangements using cytogenetics and molecular cytogenetic techniques pays way in identifying the molecular mechanisms involved in the chromosomal rearrangement. Although molecular cytogenetics is greatly developing, the conventional cytogenetics still remains the gold standard in the diagnosis of various numerical chromosomal aberrations and a few structural aberrations. The history of cytogenetics and its importance even in the era of molecular cytogenetics are discussed.

  17. Cytogenetic analysis of patients with amenorrhea

    Institute of Scientific and Technical Information of China (English)

    Zhang Ying; Zhang Xiu-ling; Li Yan

    2006-01-01

    Objective: To analyse the cytogenetic examination results and investigate the effect of chromosome abnormalities on amenorrhea.Methods: The routine cytogenetic analysis was performed, including the chromosome G band analysis and karyotype analysis of the cultured peripheral blood lymphocytes from the patients with primary amenorrhea or secondary amenorrhea.Results: One hundred and thirty-seven cases were found with chromosome abnormalities in 234 patients with primary amenorrhea. The incidence of chromosome abnormality was 58.6%. In 309 with secondary amenorrhea, the incidence of chromosome abnormality was 13.6%.The reported abnormalities included the numerical and structural abnormalities of X chromosome, 46,XY, 45,X0/46,XY,and the structural abnormality of autosome.Conclusions: Chromosome abnormality is one of the main causes of amenorrhea. Karyotype analysis of chromosome is absolutely necessary for the diagnosis and treatment of patient with amenorrhea.

  18. A new multiple sex chromosome system X1X1X2X2/X1Y1X2Y2 in Siluriformes: cytogenetic characterization of Bunocephalus coracoideus (Aspredinidae).

    Science.gov (United States)

    Ferreira, Milena; Garcia, Caroline; Matoso, Daniele Aparecida; de Jesus, Isac Silva; Feldberg, Eliana

    2016-10-01

    We analyzed one Bunocephalus coracoideus population from the Negro River basin using cytogenetic techniques. The results showed a diploid number of 42 chromosomes in both sexes, with the karyotypic formula 4m + 14sm + 24a and fundamental number (FN) = 60 for females and the formula 5m + 14sm + 23a and FN = 61 for males, constituting an X1X1X2X2/X1Y1X2Y2 multiple sex chromosome system. The constitutive heterochromatin is distributed in the pericentromeric regions of most of the chromosomes, except for the sex chromosomes, of which the X1, X2, and Y1 chromosomes were euchromatic and the Y2 chromosome was partially heterochromatic. 18S rDNA mapping confirmed the presence of nucleolar organizer regions on the short arms of the fifth chromosomal pair for both sexes. The 5S rDNA is present in the terminal regions of the short arms on the 2nd, 10th, and 12th pairs and on the X2 chromosome of both sexes; however, we observed variations in the presence of these ribosomal cistrons on the Y1 chromosome, on which the cistrons are pericentromeric, and on the Y2 chromosome, on which these cistrons are present in the terminal portions of the short and long arms. Telomeric sequences are located in the terminal regions of all of the chromosomes, particularly conspicuous blocks on the 10th and 12th pairs and internal telomeric sequences in the centromeric regions of the 1st, 6th, and 9th pairs for both sexes. This work describes an new sex chromosomes system for the Siluriformes and increases our genetic knowledge of the Aspredinidae family.

  19. Morphology, cytogenetics and classification of MDS.

    Science.gov (United States)

    Giagounidis, Aristoteles; Haase, Detlef

    2013-12-01

    Myelodysplastic syndromes are heterogeneous bone marrow diseases with a variable pathogenetic background. Cytomorphological alterations in peripheral blood films as well as bone marrow aspirates and histological findings in trephine biopsies result from cytogenetic and molecular abnormalities, epigenetic dysregulation and immune dysfunction and are key elements for setting the diagnosis of MDS. Whereas diagnosis can be made quite easily in advanced MDS this is much more difficult in early MDS, especially in cases with cytopenias or dysplasias of uncertain significance (ICUS and IDUS). Recommendations, illustrated by case reports for a stepwise annealing to the final diagnosis and exclusion of differential diagnoses are given. Furthermore, the problem of correct counting and identification of blasts is covered and features defining dysplasia in all three cell lineages are recapitulated thoroughly. Histopathology is not mandatory but has a distinct diagnostic and prognostic value especially in cases with hypoplasia or fibrosis and when the TP53 mutational status is of relevance. In up to 70% of patients with MDS clonal chromosome abnormalities can be identified which have a high impact on setting the correct diagnosis and estimation of prognosis. Incidence, type, molecular background and clinical relevance of distinct anomalies as well as cytogenetic subgroups are presented in detail and the development of the new cytogenetic prognostic scoring system as part of the IPSS-R is explained. The value of FISH-Analysis as a complementary tool for chromosome analysis in MDS is demonstrated with special emphasis on the possibility to perform frequent cytogenetic monitoring by CD34-FISH examination of peripheral blood. Finally the evolution of MDS-classification systems from FAB to WHO with a critical discussion of their shortcomings like degree of dysplasia, blast thresholds, inclusion/exclusion of CMML, and the lack of dynamic information is presented.

  20. Cytogenetics of pediatric acute myeloid leukemia.

    Science.gov (United States)

    Manola, Kalliopi N

    2009-11-01

    Acute myeloid leukemia (AML) is a clinically and genetically heterogeneous disease accounting for 15-20% of all childhood acute leukemias, while it is responsible for more than half of the leukemic deaths in these patients. This article focuses on the significance of cytogenetic analysis in pediatric AML supporting the importance of cytogenetic analysis in the pathogenesis, diagnosis, prognosis, follow-up and treatment selection in childhood AML. It reviews in detail the types and frequencies of most common chromosomal aberrations, their molecular background, their correlation with French American British (FAB) subtypes and age distribution and their prognostic relevance. It also summarizes some less frequent or rare chromosome aberrations in which the prognostic classification has not been determined yet owning to the small number of patients and the variable treatment modalities used in different study groups. Furthermore, it discusses the association of specific chromosome rearrangements with prenatal exposure to carcinogenic agents or therapeutic agents and highlights the ongoing and future research on pediatric AML in the evolving field of Cytogenetics.

  1. Comparative genomic hybridization in clinical cytogenetics

    Energy Technology Data Exchange (ETDEWEB)

    Bryndorf, T.; Kirchhoff, M.; Rose, H. [and others

    1995-11-01

    We report the results of applying comparative genomic hybridization (CGH) in a cytogenetic service laboratory for (1) determination of the origin of extra and missing chromosomal material in intricate cases of unbalanced aberrations and (2) detection of common prenatal numerical chromosome aberrations. A total of 11 fetal samples were analyzed. Seven cases of complex unbalanced aberrations that could not be identified reliably by conventional cytogenetics were successfully resolved by CGH analysis. CGH results were validated by using FISH with chromosome-specific probes. Four cases representing common prenatal numerical aberrations (trisomy 21, 18, and 13 and monosomy X) were also successfully diagnosed by CGH. We conclude that CGH is a powerful adjunct to traditional cytogenetic techniques that makes it possible to solve clinical cases of intricate unbalanced aberrations in a single hybridization. CGH may also be a useful adjunct to screen for euchromatic involvement in marker chromosomes. Further technical development may render CGH applicable for routine aberration screening. 16 refs., 4 figs., 2 tabs.

  2. Integrating cytogenetics and genomics in comparative evolutionary studies of cichlid fish

    Directory of Open Access Journals (Sweden)

    Mazzuchelli Juliana

    2012-09-01

    Full Text Available Abstract Background The availability of a large number of recently sequenced vertebrate genomes opens new avenues to integrate cytogenetics and genomics in comparative and evolutionary studies. Cytogenetic mapping can offer alternative means to identify conserved synteny shared by distinct genomes and also to define genome regions that are still not fine characterized even after wide-ranging nucleotide sequence efforts. An efficient way to perform comparative cytogenetic mapping is based on BAC clones mapping by fluorescence in situ hybridization. In this report, to address the knowledge gap on the genome evolution in cichlid fishes, BAC clones of an Oreochromis niloticus library covering the linkage groups (LG 1, 3, 5, and 7 were mapped onto the chromosomes of 9 African cichlid species. The cytogenetic mapping data were also integrated with BAC-end sequences information of O. niloticus and comparatively analyzed against the genome of other fish species and vertebrates. Results The location of BACs from LG1, 3, 5, and 7 revealed a strong chromosomal conservation among the analyzed cichlid species genomes, which evidenced a synteny of the markers of each LG. Comparative in silico analysis also identified large genomic blocks that were conserved in distantly related fish groups and also in other vertebrates. Conclusions Although it has been suggested that fishes contain plastic genomes with high rates of chromosomal rearrangements and probably low rates of synteny conservation, our results evidence that large syntenic chromosome segments have been maintained conserved during evolution, at least for the considered markers. Additionally, our current cytogenetic mapping efforts integrated with genomic approaches conduct to a new perspective to address important questions involving chromosome evolution in fishes.

  3. Molecular Cytogenetics: Genomic Imbalances in Colorectal Cancer and their Clinical Impact

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    Marian Grade

    2006-01-01

    Full Text Available Chromosomal aberrations play a dominant role in colorectal carcinogenesis. The application of fluorescence in situ hybridization (FISH based techniques such as comparative genomic hybridization (CGH and spectral karyotyping (SKY revealed that colorectal carcinomas are characterized by a specific pattern of chromosomal imbalances which sequentially accumulate during cancer progression. This review aims to summarize molecular cytogenetic studies, provides a background on the functional relevance of chromosomal aberrations for colorectal cancer progression and discusses their potential clinical impact.

  4. Cytogenetic analysis in western Atlantic snappers (Perciformes, Lutjanidae

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    Érika Cruz Rocha

    2008-01-01

    Full Text Available The Lutjanidae or snappers are a family of perciform fishes, mainly marine but with some members living in estuaries and entering fresh water to feed. Some are important food fish. Cytogenetic data for Lutjanidae are scarce. In the present work, we cytogenetically characterized through conventional Giemsa staining techniques, Ag-NOR and C-banding the species Ocyurus chrysurus, Lutjanus analis, L. alexandrei, L. cyanopterus, L. jocu and L. synagris, all found along the Brazilian coast. Karyotype analysis of all six species showed a modal value of 2n = 48 acrocentric chromosomes. Single NORs were found at pericentromeric position on the long arms of the 2nd pair in O. chrysurus, L. alexandrei and L. cyanopterus, on the 5th pair in L. analis and on the 23rd pair in L. synagris. The species L. jocu presented multiple NORs located on the 2nd pair at a pericentromeric region and on the 5th pair at a telomeric region. Heterochromatic blocks were identified at the centromeric region of all chromosomes of the studied species. These results indicate that, despite of the chromosomal stability of this family, a relative structural diversification seems to have occurred in the chromosome evolution of the group. Such diversification was evidenced by divergent number and location of ribosomal sites among species. The NOR-bearing pairs represented an efficient cytotaxonomic marker for most of the analyzed species. The data suggest that the presence of interstitially located single NORs on a large acrocentric pair should represent a basal condition for lutjanids.

  5. Cytogenetic findings in primary and secondary MDS.

    Science.gov (United States)

    Heim, S

    1992-01-01

    More than 1300 MDS cases with clonal cytogenetic abnormalities, 200 of them secondary MDS, have been reported. The most common aberrations in primary MDS are del(5q) (27%), trisomy 8 (19%), monosomy 7 (15%), der(11q) (7%), -5, der(12p) and -Y (5%), del(7q) (4%), and t(1;7), der(3q), del(13q), i(17q) and del(20q) in 2% or less. The 5q- is mostly, but not always, a del(5)(q13q33); it is the cytogenetic hall-mark of the "5q- syndrome" and is frequently found as the sole abnormality. The frequency of the aberrations varies among MDS subgroups: 5q- is most frequent in RA, -5, -7, and der(12p) are more common in CMML and especially in RAEB, and +8 and der(11q) are more often found in RARS. The most common aberrations in secondary MDS are -7 (41%), del(5q) (28%), -5 (11%), der(21q) (9%), 7q-, +8 and der(12p) (8%), t(1;7) and -12 (7%), der(17p) (6%), der(3p) and der(6p) (5%), and der(3q), der(11q), -17, -18 and der(19q) (4%). The average number of abnormalities per case is 5.3, compared with 2.9 in unspecified MDS. The frequency of cytogenetically unrelated clones is 5.7% in secondary and 4.3% in primary MDS. When the literature data are broken down by type of genotoxic exposure, it turns out that -5, -7, and der(17p) are over-represented in patients who have received chemotherapy, whereas 5q- is associated with no exposure or preceding radiotherapy only. The karyotypic profile is prognostically important: patients with -7 or complex karyotypes have a higher risk of progression to acute leukemia and shorter survival.

  6. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Science.gov (United States)

    2010-10-01

    ... 42 Public Health 5 2010-10-01 2010-10-01 false Standard: Clinical cytogenetics. 493.1276 Section 493.1276 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN... Testing Analytic Systems § 493.1276 Standard: Clinical cytogenetics. (a) The laboratory must have...

  7. Antenatal cytogenetic testing in Havana, Cuba.

    Science.gov (United States)

    Méndez-Rosado, Luis A; Quiñones, Olga; Molina, Odalys; González, Nereida; del Sol, Marylin; Maceiras, Luanda; Bravo, Yomisleidy

    2014-01-01

    INTRODUCTION Antenatal cytogenetic testing was started in Havana in 1984, as a diagnostic option for fetal chromosome complement. The techniques applied are amniocyte culture, chorionic villus sampling, cordocentesis and fluorescence in situ hybridization in interphase cells. OBJECTIVE Describe the results of antenatal cytogenetic testing in the cytogenetic laboratory of the Cuba's National Medical Genetics Center in Havana, from 1984 through 2012. METHODS A retrospective descriptive study was carried out of the 22,928 pregnant women who had antenatal testing with conclusive results during the period 1984-2012. Information was obtained from laboratory databases for four antenatal diagnostic techniques. Variables studied were: antenatal diagnostic method, indications for genetic testing, type of chromosomal abnormality detected and couple's decision concerning pregnancy continuation if hereditary disease was diagnosed. Results were reported in absolute numbers and percentages. RESULTS Overall positivity was 2.8% (641 cases). Of the total, 20,565 samples were from amniocyte culture (558 positive cases, 2.7%); 1785 chorionic villus sampling (38 positive, 2.1%); 407 cord blood culture (28 positive, 6.9%); and 171 fluorescence in situ hybridization in interphase cells (17 positive, 9.9%). Advanced maternal age was the predominant indication for amniocyte culture and chorionic villus sampling. Positivity was higher for the two less frequently used methods, cordocentesis (6.9% positivity) and fluorescence in situ hybridization (9.9%). The predominant chromosomal abnormality was Down syndrome, with 45.4% of cases detected (291/641; 279 pure lines and 12 mosaic trisomies), followed by Edward syndrome with 12% (77/641, 71 pure lines and 6 mosaics) and Patau syndrome 4.7% (30/641, 27 pure lines and 3 mosaics). Sexual aneuploidy with pure lines affected 6.9% of cases (44/641) and with mosaicism 4.7% (30/641). Structural chromosomal abnormalities were detected in 22.5% of cases

  8. Cytogenetic investigation of patients with primary amenorrhea

    Directory of Open Access Journals (Sweden)

    K Vijaya Laxmi

    2012-01-01

    Full Text Available Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short stature, poorly developed secondary sexual characteristics, and growth retardation were studied. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed female karyotype with a 15(ps+ and an isochromosome of X, i(Xq, in one patient and 46,X, i(Xq, in another patient. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype-genotype correlation to understand clinical heterogeneity in genetic counseling.

  9. Molecular cytogenetics using fluorescence in situ hybridization

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Kuo, Wen-Lin; Lucas, J.; Pinkel, D.; Weier, H-U.; Yu, Loh-Chung.

    1990-12-07

    Fluorescence in situ hybridization (FISH) with chromosome-specific probes enables several new areas of cytogenetic investigation by allowing visual determination of the presence and normality of specific genetic sequences in single metaphase or interphase cells. in this approach, termed molecular cytogenetics, the genetic loci to be analyzed are made microscopically visible in single cells using in situ hybridization with nucleic acid probes specific to these loci. To accomplish this, the DNA in the target cells is made single stranded by thermal denaturation and incubated with single-stranded, chemically modified probe under conditions where the probe will anneal only with DNA sequences to which it has high DNA sequence homology. The bound probe is then made visible by treatment with a fluorescent reagent such as fluorescein that binds to the chemical modification carried by the probe. The DNA to which the probe does not bind is made visible by staining with a dye such as propidium iodide that fluoresces at a wavelength different from that of the reagent used for probe visualization. We show in this report that probes are now available that make this technique useful for biological dosimetry, prenatal diagnosis and cancer biology. 31 refs., 3 figs.

  10. Interphase cytogenetics of workers exposed to benzene

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, L.; Wang, Yunxia; Venkatesh, P. [Univ. of California, Berkeley, CA (United States)] [and others

    1996-12-01

    Fluorescence in situ hybridization (FISH) is a powerful new technique that allows numerical chromosome aberrations (aneuploidy) to be detected in interphase cells. In previous studies, FISH has been used to demonstrate that the benzene metabolites hydroquinone and 1,2,4-benzenetriol induce aneuploidy of chromosomes 7 and 9 in cultures of human cells. In the present study, we used an interphase FISH procedure to perform cytogenetic analyses on the blood cells of 43 workers exposed to benzene (median=31 ppm, 8-hr time-weighted average) and 44 matched controls from Shanghai, China. High benzene exposure (>31 ppm, n=22) increased the hyperdiploid frequency of chromosome 9 (p<0.01), but lower exposure (<31 ppm, n=21) did not. Trisomy 9 was the major form of benzene-induced hyperdiploidy. The level of hyperdiploidy in exposed workers correlated with their urinary phenol level (r= 0.58, p < 0.0001), a measure of internal benzene close. A significant correlation was also found between hyperdiploicly and decreased absolute lymphocyte count, an indicator of benzene hematotoxicity, in the exposed group (r=-0.44, p=0.003) but not in controls (r=-0.09, P=0.58). These results show that high benzene exposure induces aneuploidy of chromosome 9 in nondiseased individuals, with trisomy being the most prevalent form. They further highlight the usefulness of interphase cytogenetics and FISH for the rapid and sensitive detection of aneuploidy in exposed human populations. 35 refs., 3 figs., 2 tabs.

  11. Supernumerary marker chromosomes derived from chromosome 6: cytogenetic, molecular cytogenetic, and array CGH characterization.

    Science.gov (United States)

    Huang, Bing; Pearle, Phyllis; Rauen, Katherine A; Cotter, Philip D

    2012-07-01

    Supernumerary marker chromosomes (SMC) are relatively common in prenatal diagnosis. As the clinical outcomes vary greatly, a better understanding of the karyotype-phenotype correlation for different SMCs will be important for genetic counseling. We present two cases of prenatally detected de novo, small SMCs. The markers were present in 80% of amniocyte colonies in Case 1 and 38% of the colonies in Case 2. The SMCs were determined to be derived from chromosome 6 during postnatal confirmation studies. Although the sizes and the chromosomal origin of the SMCs in these two cases appeared to be similar, the clinical outcomes varied. The clinical manifestations observed in Case 1 included small for gestational age, feeding difficulty at birth, hydronephrosis, deviated septum and dysmorphic features, while the phenotype is apparently normal in Case 2. Array comparative genomic hybridization (CGH) was performed and showed increase in dosage for approximately 26 Mb of genetic material from the proximal short and long arms of chromosome 6 in Case 1. Results of array CGH were uninformative in Case 2, either due to mosaicism or lack of detectable euchromatin. The difference in the clinical presentation in these two patients may have resulted from the difference in the actual gene contents of the marker chromosomes and/or the differential distribution of the mosaicism.

  12. [Achievement and prospects of the new laboratory of medical cytogenetics].

    Science.gov (United States)

    Gaĭner, T A; Karimova, O G

    2013-01-01

    Chromosomal abnormalities (CA) represent a significant part in the congenital and hereditary diseases of man. Because of the high need for cytogenetic analysis in January, 2011 a new cytogenetic laboratory was established in ICBFM SB RAS. For 1 year and 8 months more than 450 people was examined (including 21 cases with prenatal diagnosis (PD)), and 34 cases of CA was revealed. The diagnostics allows to choose symptomatic treatment for patients with CA or to prevent the birth of a child with serious CA and to plan a family. Our future plans is to develop of PD (amniocentesis) and to use the methods of molecular cytogenetic.

  13. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome - Review of 5 cases.

    Science.gov (United States)

    Plaiasu, Vasilica; Ochiana, Diana; Motei, Gabriela; Anca, Ioana; Georgescu, Adrian

    2010-07-01

    Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management.

  14. Cytogenetics of the Brazilian Bolitoglossa paraensis (Unterstein, 1930 salamanders (Caudata, Plethodontidae

    Directory of Open Access Journals (Sweden)

    Jéssica Barata da Silva

    2014-09-01

    Full Text Available Plethodontid salamanders of genus Bolitoglossa constitute the largest and most diverse group of salamanders, including around 20% of living caudate species. Recent studies have indicated the occurrence of five recognized species in the Brazilian Amazon Rainforest. We present here the first cytogenetic data of a Brazilian salamander, which may prove to be a useful by contribution to the cytotaxonomy of the genus. Specimens were collected near the "type" locality (Utinga, Belém, PA, Brazil. Chromosomal preparations from duodenal epithelial cells and testes were subjected to Giemsa staining, C-banding and DAPI/CMA3 fluorochrome staining. All specimens showed a karyotype with 13 bi-armed chromosome pairs (2n = 26. Nucleolar Organizer Regions, evidenced by CMA3, were located distally on the long arm of pair 7 (7q. DAPI+ heterochromatin was predominantly centromeric, with some small pericentromeric bands. Although the C-banding patterns of other Bolitoglossa species are so far unknown, cytogenetic studies conducted in other Plethodontid salamanders have demonstrated that pericentromeric heterochromatin is a useful cytological marker for identifying interspecific homeologies. Species diversification is usually accompanied by chromosomal changes. Therefore, the cytogenetic characterization of Bolitoglossa populations from the middle and western Brazilian Amazon Basin could identify differences which may lead to the identification of new species.

  15. Nonchromosomal cytogenetic analysis of mammal somatic cells

    Directory of Open Access Journals (Sweden)

    Kovalova O. А.

    2013-01-01

    Full Text Available The mutational events that take place in mammalian somatic cells influenced with different endogenous and exogenous factors are presented in this review. The nonchromosomal method of research allows taking into account the complex cell characteristics without time-consuming analysis of the chromosomes as such. As a result, the information can be obtained about the mitotic (phases of mitosis, the number of nuclei per cell, micronuclei, pathology of mitosis and vital (mitotic index, apoptosis cell statuses, as well as about the state of chromosomal integrity (the presence of nucleoplasmic bridges, nucleus protrusions, chromosome fragmentation, micronuclei. Depending on the material studied (erythrocytes and lymphocytes of peripheral blood, buccal cells, permanent cell lines etc., a complex of cytogenetic characteristics can be selected for each case which is the most informative for determination of the mutational spectra in mammalian somatic cells.

  16. [Fluorescent in situ hybridization in clinical cytogenetics].

    Science.gov (United States)

    Michalová, K

    1995-02-01

    During the last few years molecular biology methods expanded into human cytogenetics. This is in close connection with advanced technologies of DNA probes preparation and possibilities of their non-radioactive labelling by means of enzymatic incorporation of modified nucleotides as well as their hybridization with complementary DNA of chromosomes and interphase nuclei. FISH became a useful method in the clinical research. We present the short review of FISH methodologies and their applications for studies of translocation, deletions, amplifications and other chromosomal rearrangements in genetic and oncologic patients. The sensitivity of these methods is approximately 1-10 kb and therefore precise localization of genes on chromosomes is possible. Except gene mapping FISH can be used for comparative genomic mapping (CGH) and for identification of chromosomal changes of tumor cells.

  17. Cytogenetics Findings in a Histiocytic Sarcoma Case

    Science.gov (United States)

    Alonso-Dominguez, J. M.; Calbacho, M.; Talavera, M.; Villalon, C.; Abalo, L.; Garcia-Gutierrez, J. V.; Lozano, S.; Tenorio, M.; Villarrubia, J.; Lopez-Jimenez, J.; Ferro, M. T.

    2012-01-01

    Histiocytic sarcoma (HS) is a neoplasm derived from histiocytes. Its diagnosis was not clear until its immunohistochemistry profile was correctly established. Not much is known about its genetic properties. We report a case of a 48-year-old male patient whose bone marrow was almost completely occupied by monomorphic medium size neoplastic cellularity. Its immunohistochemical profile was CD68+, CD4+, CD45+ with negativity of other dendritic cells, and other lineage markers. Cytogenetic study showed 4 related clones: one with trisomy 8 and extra material on the short arms of chromosome 4; a second line with tetrasomy of chromosome 8, add(4)(p16); the third clone had the same alterations as the previous and deletion of chromosome 3 at q11; the fourth line had tetrasomy 8 and translocation t(3;5)(q25;q35). To our knowledge this is the first HS case showing chromosome 8 trisomy and tetrasomy and the other described alterations. PMID:22937328

  18. Cytogenetics Findings in a Histiocytic Sarcoma Case

    Directory of Open Access Journals (Sweden)

    J. M. Alonso-Dominguez

    2012-01-01

    Full Text Available Histiocytic sarcoma (HS is a neoplasm derived from histiocytes. Its diagnosis was not clear until its immunohistochemistry profile was correctly established. Not much is known about its genetic properties. We report a case of a 48-year-old male patient whose bone marrow was almost completely occupied by monomorphic medium size neoplastic cellularity. Its immunohistochemical profile was CD68+, CD4+, CD45+ with negativity of other dendritic cells, and other lineage markers. Cytogenetic study showed 4 related clones: one with trisomy 8 and extra material on the short arms of chromosome 4; a second line with tetrasomy of chromosome 8, add(4(p16; the third clone had the same alterations as the previous and deletion of chromosome 3 at q11; the fourth line had tetrasomy 8 and translocation t(3;5(q25;q35. To our knowledge this is the first HS case showing chromosome 8 trisomy and tetrasomy and the other described alterations.

  19. The prognostic significance of cytogenetics and molecular profiling in multiple myeloma.

    Science.gov (United States)

    Sawyer, Jeffrey R

    2011-01-01

    Multiple myeloma (MM) is a plasma cell malignancy characterized by very complex cytogenetic and molecular genetic aberrations. In newly diagnosed symptomatic patients, the modal chromosome number is usually either hyperdiploid with multiple trisomies or hypodiploid with one of several types of immunoglobulin heavy chain (Ig) translocations. The chromosome ploidy status and Ig rearrangements are two genetic criteria that are used to help stratify patients into prognostic groups based on the findings of conventional cytogenetics and fluorescence in situ hybridization (FISH). In general, the hypodiploid group with t(4;14)(p16;q32) or t(14;16)(q32;q23) is considered a high-risk group, while the hyperdiploid patients with t(11;14)(q13;q32) are considered a better prognostic group. As the disease progresses, it becomes more proliferative and develops a number of secondary chromosome aberrations. These secondary aberrations commonly involve MYC rearrangements, del(13q), del(17p), and the deletion of 1p and/or amplification of 1q. Of the secondary aberrations, del(17p) is consistently associated with poor prognosis. All of these cytogenetic aberrations and many additional ones are now identified by means of high resolution molecular profiling. Gene expression profiling (GEP), array comparative genomic hybridization (aCGH), and single-nucleotide polymorphism (SNP) arrays have been able to identify novel genetic aberration patterns that have previously gone unrecognized. With the integration of data from these profiling techniques, new subclassifications of MM have been proposed which define distinct molecular genetic subgroups. In this review, the findings from conventional cytogenetics, interphase FISH, GEP, aCGH, and SNP profiles are described to provide the conceptual framework for defining the emerging molecular genetic subgroups with prognostic significance.

  20. Cytogenetics and the evolution of medical genetics.

    Science.gov (United States)

    Ferguson-Smith, Malcolm A

    2008-08-01

    Interest in cytogenetics may be traced to the development of the chromosomal theory of inheritance that emerged from efforts to provide the basis for Darwin's theory "On the origin of species by means of natural selection." Despite their fundamental place in biology, chromosomes and genetics had little impact on medical practice until the 1960s. The discovery that a chromosomal defect caused Down syndrome was the spark responsible for the emergence of medical genetics as a clinical discipline. Prenatal diagnosis of trisomies, biochemical disorders, and neural tube defects became possible and hence the proliferation of genetic counseling clinics. Maternal serum screening for neural tube defects and Down syndrome followed, taking the new discipline into social medicine. Safe amniocentesis needed ultrasound, and ultrasound soon found other applications in obstetrics, including scanning for fetal malformations. Progress in medical genetics demanded a gene map, and cytogeneticists initiated the mapping workshops that led to the human genome project and the complete sequence of the human genome. As a result, conventional karyotyping has been augmented by molecular cytogenetics, and molecular karyotyping has been achieved by microarrays. Genetic diagnosis at the level of the DNA sequence is with us at last. It has been a remarkable journey from disease phenotype to karyotype to genotype, and it has taken <50 years. Our mission now is to ensure that the recent advances such as prenatal screening, microarrays, and noninvasive prenatal diagnosis are available to our patients. History shows that it is by increased use that costs are reduced and better methods discovered. Chromosome research has been behind the major advances in our field, and it will continue to be the key to future progress, not least in our appreciation of chromosomal variation and its importance as a mechanism in Darwinian evolution.

  1. A historical and modern perspective on plant cytogenetics.

    Science.gov (United States)

    Figueroa, Debbie M; Bass, Hank W

    2010-03-01

    Plant cytogenetics has continued to flourish and make essential contributions to genomics projects by delineating marker order, defining contig gaps and revealing genome rearrangements. Here we review the field of plant cytogenetics from its conception through the eras of molecular biology and genomics. Significant advances in chromosome preparation, such as extended fiber-FISH, have greatly increased the axial resolution limits, while imaging and signal amplification technologies have improved our ability to detect small gene-sized probes. Combinations of traditional FISH technologies with chromatin immunocytochemistry serve to broaden the ability of plant cytogenetics to shed light on genome structure and organization. These advances are described, together with selected examples that illustrate the power of plant cytogenetics in guiding genome projects.

  2. Clinical and molecular cytogenetics and gene mapping: principles and techniques.

    Science.gov (United States)

    Francke, U

    1995-01-01

    This article reviews the history of human cytogenetics with respect to technical advances from chromosome banding to molecular cytogenetics. Technologies such as in situ hybridization, chromosome painting, comparative genomic hybridization and interphase cytogenetics and their applications are discussed. The assignments of genes to chromosome regions by somatic cell genetics is illustrated by molecular analyses of somatic cell hybrid panels. The generation of complete physical maps of human chromosomes, by radiation hybrid mapping of sequence-tagged sites and establishment of chromosome-specific yeast artificial chromosome (YAC) banks and clone overlaps (contigs), is exemplified by studies of chromosome 18. The last section outlines the recent and future advances in clinical cytogenetics made possible by progress in molecular genetics.

  3. Molecular cytogenetics of pituitary adenomas, assessed by FISH technique.

    Science.gov (United States)

    Kontogeorgos, George

    2004-01-01

    Fluorescent in situ hybridization (FISH) represents a moden molecular pathology technique, alternative to conventional cytogenetics (karyotyping). In addition to metaphase spreads, it can be applied directly to interphase nuclei. The latter makes the FISH technique powerful for pathologists for it integrates molecular genetics and classic cytogenetics and brings them together to a single framework for morphologic evaluation. Interphase FISH can be applied to imprints from fresh tissue or to paraffin sections after proteinase K digestion. Centromeric, telomeric and locus DNA-sequence specific probes can be used to identify aneuploidy or gene mutations. Several protocols combine molecular cytogenetics with classic karyotyping. Other sophisticated, FISH-based protocols have been introduced. Among them, comparative genomic hybridization is very important for it can detect non-balanced chromosomal aberrations of uncultured tumor cells and provide overall genomic information in a single experiment. This review presents the principles and applications of FISH technique for the investigation of the cytogenetic background of pituitary adenomas.

  4. Molecular cytogenetics of lymphoma : where do we stand in 2010?

    NARCIS (Netherlands)

    Kluin, Philip; Schuuring, Ed

    2011-01-01

    For the past 20 years most malignant lymphomas have been classified as clinicopathological entities, each with its own combination of clinical, morphological, immunophenotypic and molecular genetic characteristics. Molecular and cytogenetic abnormalities can be detected by a wide range of techniques

  5. Significance of cytogenetic research in sunflower and rapeseed breeding

    National Research Council Canada - National Science Library

    Atlagić Jovanka; Terzić Sreten; Marjanović-Jeromela Ana; Marinković Radovan

    2010-01-01

    Cytogenetic research of sunflower and rapeseed has a century long tradition. Chromosome number and morphology were studied at first in species from the Helianthus and Brassica genera, and than their cytotaxonomy and phylogenesis...

  6. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    Institute of Scientific and Technical Information of China (English)

    Colombo; Sri Lanka

    2015-01-01

    Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

  7. Molecular cytogenetics of lymphoma : where do we stand in 2010?

    NARCIS (Netherlands)

    Kluin, Philip; Schuuring, Ed

    For the past 20 years most malignant lymphomas have been classified as clinicopathological entities, each with its own combination of clinical, morphological, immunophenotypic and molecular genetic characteristics. Molecular and cytogenetic abnormalities can be detected by a wide range of

  8. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21) (p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions

    Energy Technology Data Exchange (ETDEWEB)

    Sebastio, G.; Perone, L.; Guzzetta, V. [Universita Federico II, Naples (Italy)] [and others

    1996-05-17

    We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to be trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS. 15 refs., 5 figs., 1 tab.

  9. An opportune life: 50 years in human cytogenetics.

    Science.gov (United States)

    Jacobs, Patricia A

    2014-01-01

    This article is one person's view of human cytogenetics over the past 50 years. The flowering of human cytogenetics led the way to the establishment of clinical genetics as one of the most important developments in medicine in the twentieth century. The article is written from the viewpoint of a scientist who never tired of analyzing the images of dividing cells on the light microscope and interpreting the wealth of information contained in them.

  10. Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers

    OpenAIRE

    2011-01-01

    From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics. Following single colour experiments, more fluorochromes were added, culminating in a 24 colour assay that could distinguish all human chromosomes. Interphase cytogenetics (the detection of chromosome copy number in interphase nuclei) soon followed, however 24 colour experiments are hampered for this application...

  11. Molecular and cytogenetic assessment of Dipterygium glaucum genotoxicity

    OpenAIRE

    ALTWATY,NADA H.; EL-SAYED,OSAMA E.; ALY,NARIMAN A.H.; Baeshen, Mohamed N.; BAESHEN,NABIH A.

    2016-01-01

    ABSTRACT The aim of the present study is to assess the genotoxicity of Dipterygium glaucum grows widely in Saudi Arabia desert to produce safety herbal products. This work is considered the first and pioneer report so far due to the lack and poor evaluated reports of the plant species for their mutagensity, genotoxicity and cytogenetics effects. Cytogenetic effects of D. glaucum on mitotic in roots of Vicia faba showed reduction in mitotic activity using three extracts; water, ethanol and eth...

  12. Development and application of camelid molecular cytogenetic tools.

    Science.gov (United States)

    Avila, Felipe; Das, Pranab J; Kutzler, Michelle; Owens, Elaine; Perelman, Polina; Rubes, Jiri; Hornak, Miroslav; Johnson, Warren E; Raudsepp, Terje

    2014-01-01

    Cytogenetic chromosome maps offer molecular tools for genome analysis and clinical cytogenetics and are of particular importance for species with difficult karyotypes, such as camelids (2n = 74). Building on the available human-camel zoo-fluorescence in situ hybridization (FISH) data, we developed the first cytogenetic map for the alpaca (Lama pacos, LPA) genome by isolating and identifying 151 alpaca bacterial artificial chromosome (BAC) clones corresponding to 44 specific genes. The genes were mapped by FISH to 31 alpaca autosomes and the sex chromosomes; 11 chromosomes had 2 markers, which were ordered by dual-color FISH. The STS gene mapped to Xpter/Ypter, demarcating the pseudoautosomal region, whereas no markers were assigned to chromosomes 14, 21, 22, 28, and 36. The chromosome-specific markers were applied in clinical cytogenetics to identify LPA20, the major histocompatibility complex (MHC)-carrying chromosome, as a part of an autosomal translocation in a sterile male llama (Lama glama, LGL; 2n = 73,XY). FISH with LPAX BACs and LPA36 paints, as well as comparative genomic hybridization, were also used to investigate the origin of the minute chromosome, an abnormally small LPA36 in infertile female alpacas. This collection of cytogenetically mapped markers represents a new tool for camelid clinical cytogenetics and has applications for the improvement of the alpaca genome map and sequence assembly.

  13. Microsatellite instability and cytogenetic survey in myeloid leukemias

    Directory of Open Access Journals (Sweden)

    E.M.S.F. Ribeiro

    2002-02-01

    Full Text Available Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML, by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%, with relapsed AML, showed an alteration in the allele length at a single locus. Cytogenetic analysis was performed in order to improve the characterization of leukemic subtypes and to determine if specific chromosome aberrations were associated with the presence of microsatellite instability. Several chromosome aberrations were observed, most of them detected at diagnosis and during follow-up of the patients, according to current literature. These findings suggest that microsatellite instability is an infrequent genetic event in myeloid leukemias, adding support to the current view that the mechanisms of genomic instability in solid tumors differ from those observed in leukemias, where specific chromosome aberrations seem to play a major role.

  14. Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

    Science.gov (United States)

    Ronzoni, Luisa; Peron, Angela; Bianchi, Vera; Baccarin, Marco; Guerneri, Silvana; Silipigni, Rosamaria; Lalatta, Faustina; Bedeschi, Maria Francesca

    2015-07-01

    The 2q3 duplication and 4q3 deletion are two distinct conditions with variable phenotypes including developmental delay, intellectual disability, Pierre Robin sequence (PRS), and cardiovascular, craniofacial, digital and skeletal anomalies. We describe two cousins, a 37-year-old man (Patient 1) and a 17-year-old girl (Patient 2), with a derivative chromosome leading to a 4q35 deletion-2q35q37 duplication. Conventional karyotype showed in both patients the same rearrangement derived from unbalanced segregation of a parental reciprocal translocation involving the long arms of chromosome 2 and 4. Patient 1's father and Patient 2's mother were identified as the carriers of a balanced translocation t(2;4)(q35;q35). Array-CGH analysis, performed to characterize the rearrangement, documented in both patients the presence of a 26 Mb duplication of the 2q35-q37.3 region of chromosome 2 and a 6.3 Mb deletion of the 4q35.1-q35.2 region of chromosome 4. Both patients showed intellectual disability, minor facial, and digital anomalies, hearing, ocular, and genitourinary abnormalities. The comparison of their features with those of published cases of 2q3 duplication and 4q3 deletion allowed us to further delineate the genotype-phenotype correlation as well as the combined effect of partial 2q duplication and 4q deletion syndromes in adulthood.

  15. Caracterización Citogenética de Cinco Genotipos de Papa Criolla, Solanum phureja (Juz. et Buk. Cytogenetic Characterization of Five "Criolla" Potato Genotypes, Solanum phureja (Juz. et Buk.

    Directory of Open Access Journals (Sweden)

    Tiani Melissa Gómez Pulgarín

    2012-06-01

    collection has not been completed. In this study two accesions of the S. phureja collection and three genotypes from a F1 obtained from a cross between a late blight disease resistant and a susceptible genotype were characterized. Comparative analysis allowed the identification of differences in the cellular morphology, two ploidy levels (diploid and triploid with aneugenic variations (hypodiploidy and double trisomy, and four chromosome numbers (18, 24, 26 y 36 for the five genotypes evaluated.

  16. Displasia diastrófica: Caracterización clínica, radiológica, citogenética y molecular de una paciente Diastrophic dysplasia: clinical, radiological, cytogenetic and molecular characterization of a patient

    Directory of Open Access Journals (Sweden)

    Ana Elvira Prada Quiroz

    2005-01-01

    Full Text Available La displasia diastrófica (DTD es un tipo de osteocondrodisplasia congénita con un patrón de herencia autosómico recesivo, descrita inicialmente por Lamy y Maroteaux en 1960. Se caracteriza por marcada disminución de la talla, normocefalia, micromelia, cifoescoliosis, paladar hendido, quistes del pabellón auricular, pie equino varo, contracturas articulares y pulgares abducidos. Durante el período neonatal la mortalidad es alta (25%, generalmente causada por obstrucción de la vía aérea. Si los pacientes sobreviven a dicho período, el pronóstico es bueno. El desarrollo mental y sexual es normal. En 1991 Hastbacka et al. identificaron el locus de la DTD en la región 5q31-q34. En 1996 el Treacher Collins Syndrome Collaborative Group ubicó el gen DTDST en la región 5q32-q33.1. Este gen codifica una proteína transportadora de sulfato, cuya alteración conduce a la formación de proteoglicanos poco sulfatados en la matriz cartilaginosa. Presentamos una paciente que reúne las características fenotípicas y radiológicas de esta entidad. En el estudio molecular (Hospital Necker, París se identificaron dos mutaciones en el gen DTDST; una mutación nueva y la otra ya descrita en la literatura. Diastrophic dysplasia is an osteochondrodysplasia that is inherited in an autosomal recessive pattern. It was first described by Lamy and Maroteaux in 1960. This disorder is characterized by short stature, normal head size, micromelia, kyphoscoliosis, cleft palate, cystic masses in auricles, talipes equinovarus, joint contractures and abduction of thumbs (“hitchhiker thumbs”. During the neonatal period mortality is high (25%, generally due to respiratory obstruction. For those who survive, prognosis is usually good. Intelligence and sexual development are normal. In 1991 Hästbacka et al. identified the DTD locus in the 5q31-q34 region. In 1996 the Treacher Collins Syndrome Collaborative Group showed that the gene is located on 5q32-q33.1. The

  17. Immunofluorescence in cytogenetic analysis: method and applications

    Directory of Open Access Journals (Sweden)

    Jeppesen Peter

    2000-01-01

    Full Text Available Control of the genetic information encoded by DNA in mammalian chromosomes is mediated by proteins, some of which are only transiently attached, although others are intrinsically associated with nucleic acid in the complex mixture known as chromatin. Chromatin-associated proteins range from the ubiquitous and abundant histones down to the most specific and rare of transcription factors. Although many chromatin proteins are probably excluded from highly condensed mitotic chromosomes, a number are retained throughout the cell cycle and can be detected on chromosomes in metaphase spreads. Comparing the distribution of a chromosomal protein with known cytogenetic markers on metaphase chromosomes can provide an important and potentially highly informative first source of data on the function of the protein under consideration. The aim of the present study is to summarize some of the principles involved in obtaining suitable chromosome preparations for subsequent immunolocalization of protein antigens. Some applications of the method will be included to illustrate how this approach has increased our understanding of chromosome structure and genetic regulation.

  18. Human interphase chromosomes: a review of available molecular cytogenetic technologies

    Directory of Open Access Journals (Sweden)

    Yurov Yuri B

    2010-01-01

    Full Text Available Abstract Human karyotype is usually studied by classical cytogenetic (banding techniques. To perform it, one has to obtain metaphase chromosomes of mitotic cells. This leads to the impossibility of analyzing all the cell types, to moderate cell scoring, and to the extrapolation of cytogenetic data retrieved from a couple of tens of mitotic cells to the whole organism, suggesting that all the remaining cells possess these genomes. However, this is far from being the case inasmuch as chromosome abnormalities can occur in any cell along ontogeny. Since somatic cells of eukaryotes are more likely to be in interphase, the solution of the problem concerning studying postmitotic cells and larger cell populations is interphase cytogenetics, which has become more or less applicable for specific biomedical tasks due to achievements in molecular cytogenetics (i.e. developments of fluorescence in situ hybridization -- FISH, and multicolor banding -- MCB. Numerous interphase molecular cytogenetic approaches are restricted to studying specific genomic loci (regions being, however, useful for identification of chromosome abnormalities (aneuploidy, polyploidy, deletions, inversions, duplications, translocations. Moreover, these techniques are the unique possibility to establish biological role and patterns of nuclear genome organization at suprachromosomal level in a given cell. Here, it is to note that this issue is incompletely worked out due to technical limitations. Nonetheless, a number of state-of-the-art molecular cytogenetic techniques (i.e multicolor interphase FISH or interpahase chromosome-specific MCB allow visualization of interphase chromosomes in their integrity at molecular resolutions. Thus, regardless numerous difficulties encountered during studying human interphase chromosomes, molecular cytogenetics does provide for high-resolution single-cell analysis of genome organization, structure and behavior at all stages of cell cycle.

  19. Cytogenetic diversity of simple sequences repeats in morphotypes of Brassica rapa ssp. chinensis

    Directory of Open Access Journals (Sweden)

    Jinshuang Zheng

    2016-07-01

    Full Text Available A significant fraction of the nuclear DNA of all eukaryotes is occupied by simple sequence repeats (SSRs. Although thesis sequences have sparked great interest as a means of studying genetic variation, linkage mapping and evolution, little attention had been paid to the chromosomal distribution and cytogenetic diversity of these sequences. This paper report the long-range organization of all possible classes of mono-, di- and tri-nucleotide SSRs in Brassica rapa. Fluorescence in situ hybridization (FISH was used to characterize the cytogenetic diversity of SSRs among morphotypes of B. rapa ssp. chinensis. The proportion of different SSR motifs varied among morphtypes of B. rapa, with trinucleotide SSRs more prevalent in the genome of B. rapa ssp. chinensis. The chromosomal characterizations of mono-, di- and tri-nucleotide repeats have been acquired. The data has revealed the non-random and motif-dependent chromosome distribution of SSRs in different morphtypes, and allowed the relative variability characterized by SSRs amount and similar chromosomal distribution in centromeric/peri-centromeric heterochromatin. The differences of SSRs in the abundance and distribution indicated the driving force of SSRs in relationship with the evolution of B. rapa species. The results provided a comprehensive view on the SSR sequence distribution and evolution for comparison among morphtypes B. rapa ssp. chinensis.

  20. Comparative cytogenetics in Astyanax (Characiformes: Characidae with focus on the cytotaxonomy of the group

    Directory of Open Access Journals (Sweden)

    Renata Cristina Claudino de Oliveira Tenório

    Full Text Available Astyanax is a diverse group of Neotropical fishes, whose different forms occupy different environments. This great diversity is also reflected on cytogenetic aspects and molecular markers, which have repeatedly been demonstrated by cytogenetic studies. In order to characterize the karyotype of species of this genus, six species were studied: Astyanax altiparanae, A.argyrimarginatus, A. elachylepis, A. xavante, and two new species provisionally called Astyanax sp. and A. aff. bimaculatus. A detailed cytogenetic study based on conventional staining with Giemsa, AgNORs, C-banding, base-specific fluorochromes, and FISH using ribosomal genes 18S and 5S was conducted, aiming to understand some of the chromosomal mechanisms associated with the high diversification that characterizes this group and culminated with the establishment of these species. The results showed 2n = 50 chromosomes for five species and a karyotype with 52 chromosomes in Astyanax sp. Small variations in the macrostructure of the karyotypes were identified, which were quite relevant when analyzed by classical banding, fluorochromes, and FISH methods. These differences among Astyanax spp. (2n = 50 are largely due to changes in the amount and types of heterochromatic blocks. Astyanax sp (2n = 52, in addition to variations due to heterochromatic blocks, has its origin possibly by events of centric fission in a pair of chromosomes followed by minor rearrangements.These results show an interesting karyotypic diversity in Astyanax and indicate the need of a review of the group referred as A. aff. bimaculatus and the description of Astyanax sp., including the possibility of inclusion of this unit in another genus.

  1. Cytogenetic and molecular aberrations of multiple myeloma patients:a single-center study in Singapore

    Institute of Scientific and Technical Information of China (English)

    LIM Alvin Soon Tiong; LIM Tse Hui; SEE Karen Hsu Shien; NG Yit Jun; TAN Yu Min; CHOO Natasha Swee Lian; LIM Sherry Xin Er

    2013-01-01

    Background Much is known about the cytogenetic lesions that characterize multiple myeloma (MM) patients from the USA,Europe,and East Asia.However,little has been published about the disease among Southeast Asians.The aim of this study was to determine the chromosomal abnormalities of MM patients in our Singapore population.Methods Forty-five newly-diagnosed,morphologically confirmed patients comprising 18 males and 27 females,aged 46-84 years (median 65 years) were investigated by karyotyping and fluorescence in situ hybridization (FISH).FISH employing standard panel probes and 1p36/1q21 and 6q21/15q22 probes was performed on diagnostic bone marrow samples.Results Thirty-four cases (75.6%) had karyotypic abnormalities.Including FISH,a total detection rate of 91.1% was attained.Numerical and complex structural aberrations were common to both hyperdiploid and non-hyperdiploid patients.Numerical gains of several recurring chromosomes were frequent among hyperdiploid patients while structural rearrangements of several chromosomes including 8q24.1 and 14q32 characterized non-hyperdiploid patients.With FISH,immunoglobulin heavy chain (IGH) gene rearrangements,especially fibroblast growth factor receptor 3 (FGFR3)/IGH and RB1 deletion/monosomy 13 were the most common abnormalities (43.4%).Amplification 1q21 was 10 times more frequent (42.5%) than del(1p36) and del(6q21).Conclusions We have successfully reported the comprehensive cytogenetic profiling of a cohort of newly-diagnosed myeloma patients in our population.This study indicates that the genetic and cytogenetic abnormalities,and their frequencies,in our study group are generally similar to other populations.

  2. Study on phenotypic and cytogenetic characteristics of bone marrow mesenchymal stem cells in myelodysplastic syndromes

    Institute of Scientific and Technical Information of China (English)

    宋陆茜

    2013-01-01

    Objective To investigate phenotype,cell differentiation and cytogenetic properties of bone marrow(BM) mesenchymal stem cells(MSC)separated from the myelodysplastic syndrome(MDS) patients,and to analyze cytogenetic

  3. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

    DEFF Research Database (Denmark)

    Bisgaard, Anne-Marie; Kirchhoff, Maria; Nielsen, Jens Erik;

    2007-01-01

    Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype...

  4. Cytogenetic and molecular characterization of complex three-way translocations in acute promyelocytic leukemia%急性早幼粒细胞白血病中复杂三元易位的细胞遗传学和分子特点

    Institute of Scientific and Technical Information of China (English)

    Christopher E. FREEMAN; Danielle D. MERCER; Yi YE; John VAN BRUNT Ⅲ; Marilyn M. LI

    2009-01-01

    The most frequent chromosomal rearrangement reported in acute promyelocytic leukemia (APL) is t(15 ;17)(q22;q21). The t(15;17) generates the PML/RARA fusion gene that blocks the transcription of genes involved in myeloid cell differentiation. A small number of simple and complex variants of the classical t(15;17) have been reported. We report two complex three-way translocation variants, t(3;17;15) (q27;q21 ;q22) and t(8;17;15) (q24.3;q12;q22) in which the PML/RARA fusion gene has been created on the derivative 15 chromosomes. Many of these variant translocations are suspected by conventional cytogenetics but need to be confirmed with additional molecular testing. We discuss the importance of supplementing conventional cytogenetic testing with FISH and RT-PCR to accurately diagnose APL variant patients.

  5. Cytogenetical characterization of bovine breeds Caracu, Junqueira, Pantaneiro and Patua

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    Rita Maria Ladeira Pires

    2014-10-01

    Full Text Available During the adaptive process to Brazilian conditions, the native cattle breeds acquired physiological and phenotypic characteristics wich differs them from European breeds, from which they derive. The objectives of present study were to compare the sex chromosomes morphologies between four Brazilian native cattle breeds as well as the incidence of chromosomal abnormalities. The karyotype of 332 animals from four breeds were analyzed: Caracu (115 females and 159 males, Junqueira (13 females and 3 males, Pantaneiro (8 males and Patua (21 females and 13 males. The Giemsa coloring were used to read the chromosome. All cattle breeds studied showed the normal chromosome (2n=60 consisting of 58 acrocentric autosomes and two submetacentric X chromosomes in females, and one X and one Y in males. In Caracu breed, selected for dairy or beef, it was developed by animals dimorphism carriers of Y chromosome (acrocentric and submetacentric, and the beef bloodlines showed higher percentage of acrocentric Y chromosome. There was 1% significant difference in Chi-Square test. In two females and two male born from twin birth of Caracu breed it was observed chemerism 60, XX/ 60, XY, and in other female from same breed it was observed 60, XX/ 61 XXY. For other three breeds, no chromosomal abnormality was observed. The Y chromosome morphology of the Pantaneiro and Patua breeds showed dimorphism of Y chromosome (submetacentric an acrocentric. In the Junqueira breed, only submetacentric morphology was observed.

  6. Results and Pitfalls in Prenatal Cytogenetic Diagnosis

    Science.gov (United States)

    Hsu, Lillian Y. F.; Dubin, Elyse C.; Kerenyi, Thomas; Hirschhorn, Kurt

    1973-01-01

    Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant. Images PMID:4268389

  7. Cytogenetics in solid tumors: lessons from the Philadelphia Chromosome.

    Science.gov (United States)

    Sudoyo, Aru W; Hardi, Fransiska

    2011-01-01

    Although presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of gene mutation as a consistent factor. The "Philadelphia Chromosome" found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular disease. Starting from this point, cytogenetics as the study of chromosomes has become a valuable tool in the assessment of cancer - as an aid in diagnosis, thus guiding therapy, and as a prognostic marker. As is the nature of the proliferating marrow, chromosomal abnormalities were found mostly in hematologic malignancies, and the findings more pathognomonic. The situation is different in solid tumors, which when visible to the naked eye already will have complex chromosomal changes and thus pose technical difficulties to the cytogeneticist. However, scientists believe that the shift in chromosomal studies from conventional cytogenetics to molecular cytogenetics will provide further information regarding solid tumors.

  8. [Half a century of human and medical cytogenetics].

    Science.gov (United States)

    Vago, P

    2009-01-01

    In 1956, the number of chromosomes in humans is set at 46; in 1959, the link between a disability (mongolism) and a chromosomal anomaly (the Down syndrome) is established: human and medical cytogenetics were born. Since then, progress has been remarkable: the techniques of chromosomal and molecular cytogenetics can reach a resolution of the size of a single gene with a pangenomic scope. Practical applications are constantly expanded. The clinical impact is significant, from the genetic counselling in constitutional to the targeted therapies. Fifty years later, cytogenetics can be defined as the science which aims to detect chromosomal abnormalities, whether constitutional or acquired, using chromosomal or molecular techniques aiming to study the arrangement of genes in chromosomes, to quantify the number of gene copy and to look for the presence of gene fusion.

  9. Cytogenetic analysis after evaluation of 750 fetal deaths : proposal for diagnostic workup

    NARCIS (Netherlands)

    Korteweg, Fleurisca J.; Bouman, Katelijne; Erwich, Jan Jaap H. M.; Timmer, Albertus; Veeger, Nic J. G. M.; Ravise, Joke M.; Nijman, Thomas H.; Holm, Andjozien P.

    2008-01-01

    OBJECTIVE: To estimate success rates for cytogenetic analysis in different tissues after intrauterine fetal death, and study selection criteria and value of cytogenetic testing in determining cause of death. METHODS: Cytogenetic analyses and the value of this test in determining cause by a multidisc

  10. Cytogenetic analysis after evaluation of 750 fetal deaths - Proposal for diagnostic workup

    NARCIS (Netherlands)

    Korteweg, Fleurisca J.; Bouman, Katelijne; Erwich, Jan Jaap H. M.; Timmer, Albertus; Veeger, Nic J. G. M.; Ravise, Joke M.; Nijman, Thomas H.; Holm, Andjozien P.

    2008-01-01

    OBJECTIVE: To estimate success rates for cytogenetic analysis in different tissues after intrauterine fetal death, and study selection criteria and value of cytogenetic testing in determining cause of death. METHODS: Cytogenetic analyses and the value of this test in determining cause by a multidisc

  11. Molecular cytogenetic analysis and genomic organization of major DNA repeats in castor bean (Ricinus communis L.).

    Science.gov (United States)

    Alexandrov, O S; Karlov, G I

    2016-04-01

    This article addresses the bioinformatic, molecular genetic, and cytogenetic study of castor bean (Ricinus communis, 2n = 20), which belongs to the monotypic Ricinus genus within the Euphorbiaceae family. Because castor bean chromosomes are small, karyotypic studies are difficult. However, the use of DNA repeats has yielded new prospects for karyotypic research and genome characterization. In the present study, major DNA repeat sequences were identified, characterized and localized on mitotic metaphase and meiotic pachytene chromosomes. Analyses of the nucleotide composition, curvature models, and FISH localization of the rcsat39 repeat suggest that this repeat plays a key role in building heterochromatic arrays in castor bean. Additionally, the rcsat390 sequences were determined to be chromosome-specific repeats located in the pericentromeric region of mitotic chromosome A (pachytene chromosome 1). The localization of rcsat39, rcsat390, 45S and 5S rDNA genes allowed for the development of cytogenetic landmarks for chromosome identification. General questions linked to heterochromatin formation, DNA repeat distribution, and the evolutionary emergence of the genome are discussed. The article may be of interest to biologists studying small genome organization and short monomer DNA repeats.

  12. Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.

    Science.gov (United States)

    Bertini, Veronica; Ghirri, Paolo; Bicocchi, Maria Patrizia; Simi, Paolo; Valetto, Angelo

    2010-08-01

    To characterize the breakpoints of a t(X;15) found in a woman with premature ovarian failure (POF). Case report. Molecular and cytogenetics unit in a university-affiliated hospital. A 19-year-old infertile woman presenting with a normal female phenotype but primary amenorrhea. Molecular cytogenetic analyses and genetic counseling. Translocation t(X;15) defined by fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array CGH). Chromosome and FISH analysis revealed 46,XX, t(X;15)(Xq22.1;p11); the active X was translocated and had been inherited from her mother. Detailed molecular characterization by FISH showed that the NXF5 (nuclear RNA export factor 5) gene was contained in the clone spanning the breakpoint on the X chromosome. The NXF5 gene is an appealing candidate for POF because it shows functional homology with the FMR1 (fragile X mental retardation 1) gene. Further analyses of its expression as well as mutation screening in other POF patients will help to elucidate its role. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. Cytogenetic findings in persons living near the Love Canal.

    Science.gov (United States)

    Heath, C W; Nadel, M R; Zack, M M; Chen, A T; Bender, M A; Preston, R J

    1984-03-16

    Cytogenetic analyses were performed on peripheral blood from 46 present or past residents of the area surrounding Love Canal, a former dump site for chemical wastes in Niagara Falls, NY. Participants included 17 persons in whom cytogenetic analyses had been performed in 1980 and 29 persons who had been living in 1978 in seven homes that directly adjoined the canal and in which environmental tests showed elevated levels of chemicals spreading from the canal. Frequencies of chromosomal aberrations and of sister chromatid exchange (SCE) did not differ significantly from control levels. For all participants, cigarette smoking was associated with an increase in sister chromatid exchange frequency.

  14. The role of the Giemsa stain in cytogenetics.

    Science.gov (United States)

    Dolan, M

    2011-04-01

    In just half a century since the human diploid chromosome number was correctly identified as 46, there has been a rapid expansion in our understanding of both the genetic foundation of normal human development and the development of various constitutional and acquired abnormalities. The ability to detect numerical and structural chromosomal abnormalities was made possible by the Giemsa stain. Despite the recent advent of powerful molecular-based cytogenetic techniques (e.g., fluorescence in situ hybridization, array-based comparative genomic hybridization), Giemsa-based chromosomal banding and staining techniques retain their crucial role in cytogenetics.

  15. Fluorescent in situ hybridization as an adjunct to conventional cytogenetics.

    Science.gov (United States)

    Mark, H F

    1994-01-01

    Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that exploits the availability of recombinant deoxyribonucleic acid (DNA) technology. In metaphase FISH, a specific nucleic acid sequence (probe) is bound to the homologous segment on a metaphase chromosome in a fixed preparation on a glass slide. The presence of a region-specific DNA sequence in a nondividing cell can be detected using interphase FISH. Interphase cytogenetics via FISH can be performed on fixed cells harvested during a routine culture, on tissue sections and on many cytologic specimens. Specific examples of clinical and research applications are discussed to illustrate the utility of FISH in the detection of constitutional and acquired chromosomal abnormalities.

  16. A cytogenetical study on Economidichthys pygmaeus Holly, 1929 (Pisces, Gobiidae, an endemic freshwater goby from Western Greece

    Directory of Open Access Journals (Sweden)

    Massimiliano Rampin

    2011-12-01

    Full Text Available A cytogenetic study was carried out on the chromosomes and the nuclear DNA content of the freshwater goby Economidichthys pygmaeus (Pisces, Gobiidae. The species is characterized by a 2n=46 karyotype consisting of 12 submetacentric and 11 subtelocentric chromosome pairs (NF=70. Major (45S rDNA genes are terminal-centromeric located on the short arm of a single medium-small sized submetacentric pair as assessed by in situ hybridization, CMA3 staining, and Ag-NOR banding. The haploid (C-value nuclear DNA content is 0.93±0.003 picograms. The cytogenetical data of E. pygmaeus were compared with those ones already available for other related gobies.

  17. A cytogenetical study on Economidichthys pygmaeus Holly, 1929 (Pisces, Gobiidae), an endemic freshwater goby from Western Greece.

    Science.gov (United States)

    Rampin, Massimiliano; Gkenas, Christos; Malavasi, Stefano; Libertini, Angelo

    2011-01-01

    A cytogenetic study was carried out on the chromosomes and the nuclear DNA content of the freshwater goby Economidichthys pygmaeus (Pisces, Gobiidae). The species is characterized by a 2n=46 karyotype consisting of 12 submetacentric and 11 subtelocentric chromosome pairs (NF=70). Major (45S) rDNA genes are terminal-centromeric located on the short arm of a single medium-small sized submetacentric pairas assessed by in situ hybridization, CMA3 staining, and Ag-NOR banding. The haploid (C-value) nuclear DNA content is 0.93±0.003 picograms. The cytogenetical data of Economidichthys pygmaeus were compared with those ones already available for other related gobies.

  18. Cytogenetic studies of 19 meningiomas and their clinical significance. I

    DEFF Research Database (Denmark)

    Poulsgård, L; Rønne, M; Schrøder, H D

    1989-01-01

    Cytogenetic analysis of 19 meningiomas from 10 female and 9 male patients are reported. Chromosomal abnormalities were found in all cases with a stemline karyotype 45, XY, -22 or 45, XX, -22. Three of these had additional sidelines: (a) 44, XX, -1, -4, -6, -8, -22, +19, +del(1) (:p33----q43), +dup...

  19. Practical Instruction in Tissue Culture and Cytogenetics for Sandwich Students.

    Science.gov (United States)

    Williams, D. C.; Bishun, N. P.

    1973-01-01

    Describes the training and practical techniques taught to students involved in a sandwich course at the Tissue Culture and Cytogenetics Unit of the Marie Curie Memorial Foundation, Surrey, England. Students spend a minimum of six months involved in the sandwich course before returning to university for a final academic year. (JR)

  20. Molecular cytogenetics: an indispensable tool for cancer diagnosis.

    Science.gov (United States)

    Wan, Thomas Sk; Ma, Edmond Sk

    2012-01-01

    Cytogenetic aberrations may escape detection or recognition in traditional karyotyping. The past decade has seen an explosion of methodological advances in molecular cytogenetics technology. These cytogenetics techniques add color to the black and white world of conventional banding. Fluorescence in-situ hybridization (FISH) study has emerged as an indispensable tool for both basic and clinical research, as well as diagnostics, in leukemia and cancers. FISH can be used to identify chromosomal abnormalities through fluorescent labeled DNA probes that target specific DNA sequences. Subsequently, FISH-based tests such as multicolor karyotyping, comparative genomic hybridization (CGH) and array CGH have been used in emerging clinical applications as they enable resolution of complex karyotypic aberrations and whole global scanning of genomic imbalances. More recently, crossspecies array CGH analysis has also been employed in cancer gene identification. The clinical impact of FISH is pivotal, especially in the diagnosis, prognosis and treatment decisions for hematological diseases, all of which facilitate the practice of personalized medicine. This review summarizes the methodology and current utilization of these FISH techniques in unraveling chromosomal changes and highlights how the field is moving away from conventional methods towards molecular cytogenetics approaches. In addition, the potential of the more recently developed FISH tests in contributing information to genetic abnormalities is illustrated.

  1. Use of bone core biopsies for cytogenetic analysis

    Energy Technology Data Exchange (ETDEWEB)

    Martin, P.; Rowley, J.D.; Baron, J.M.

    1979-01-01

    Cultures of bone core specimens have proved satisfactory for cytogenetic analysis in patients from whom it was impossible to obtain a bone marrow aspirate, or in whose peripheral blood dividing myeloid cells were absent or insufficient in number. The quality of the metaphase chromosome is adequate for banding studies.

  2. Constructing a Cytogenetic Map of the Maize Genome

    Science.gov (United States)

    We are developing a pachytene cytogenetic FISH (Fluorescence in situ Hybridization) map of the maize (Zea mays L.) genome using maize marker-selected sorghum BACs (Bacterial Artificial Chromosome) as described by Koumbaris and Bass (2003, Plant J. 35:647). The two main projects are the production of...

  3. Cytogenetic profile of aplastic anaemia in Indian children

    Directory of Open Access Journals (Sweden)

    Vineeta Gupta

    2013-01-01

    Interpretation & conclusions: Five (11.9% patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

  4. Nanoscaled biological gated field effect transistors for cytogenetic analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Andersen, Karsten Brandt;

    2014-01-01

    Cytogenetic analysis is the study of chromosome structure and function, and is often used in cancer diagnosis, as many chromosome abnormalities are linked to the onset of cancer. A novel label free detection method for chromosomal translocation analysis using nanoscaled field effect transistors...

  5. Cytogenetic analysis of Cycloramphus boraceiensis Heyer (Anura, Leptodactylidae

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    Ana Paula Zampieri Silva

    2001-03-01

    Full Text Available Cytogenetic studies on Cycloramphus boraceiensis Heyer, 1983 collected in Picinguaba, Ubatuba, State of São Paulo are presented. The species has 2n=26 karyotype formed by metacentrics, submetacentrics, and one telocentric pair which carries Ag-NORs. The C-banding patterns is also described.

  6. Cryptic Caribbean species of Scorpaena (Actinopterygii: Scorpaeniformes) suggested by cytogenetic and molecular data.

    Science.gov (United States)

    Nirchio, M; Oliveira, C; Siccha-Ramirez, Z R; Sene, V F; Sánchez-Romero, O R; Ehemann, N R; Milana, V; Rossi, A R; Sola, L

    2016-10-01

    Cytogenetic and molecular analyses enabled identification of two cytotypes among individuals of the spotted scorpion fish Scorpaena plumieri from Margarita Island, Venezuela. Cytotype 1 was characterized by 48 subtelo-acrocentric chromosomes and fundamental number (number of chromosome arms; FN) equalled 48, while cytotype 2 was characterized by two metacentric and 46 subtelo-acrocentric chromosomes and FN was 50. These cytotypes also differed in the location of the ribosomal gene clusters and in the distribution of the constitutive heterochromatin. Moreover, fish from the cytotypes 1 and 2 were found to belong to distinct mitochondrial lineages. The presence of two S. plumieri cytotypes from two lineages separated by high genetic distance suggests that they correspond to sympatric cryptic species.

  7. Molecular Mutations and Their Cooccurrences in Cytogenetically Normal Acute Myeloid Leukemia

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    Mengning Wang

    2017-01-01

    Full Text Available Adult acute myeloid leukemia (AML clinically is a disparate disease that requires intensive treatments ranging from chemotherapy alone to allogeneic hematopoietic cell transplantation (allo-HCT. Historically, cytogenetic analysis has been a useful prognostic tool to classify patients into favorable, intermediate, and unfavorable prognostic risk groups. However, the intermediate-risk group, consisting predominantly of cytogenetically normal AML (CN-AML, itself exhibits diverse clinical outcomes and requires further characterization to allow for more optimal treatment decision-making. The recent advances in clinical genomics have led to the recategorization of CN-AML into favorable or unfavorable subgroups. The relapsing nature of AML is thought to be due to clonal heterogeneity that includes founder or driver mutations present in the leukemic stem cell population. In this article, we summarize the clinical outcomes of relevant molecular mutations and their cooccurrences in CN-AML, including NPM1, FLT3ITD, DNMT3A, NRAS, TET2, RUNX1, MLLPTD, ASXL1, BCOR, PHF6, CEBPAbiallelic, IDH1, IDH2R140, and IDH2R170, with an emphasis on their relevance to the leukemic stem cell compartment. We have reviewed the available literature and TCGA AML databases (2013 to highlight the potential role of stem cell regulating factor mutations on outcome within newly defined AML molecular subgroups.

  8. Comparative cytogenetic studies of Bufo ictericus, B. paracnemis (Amphibia, Anura and an intermediate form in sympatry

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    Azevedo MFC

    2003-01-01

    Full Text Available Specimens of Bufo ictericus, Bufo paracnemis and a third type, considered an intermediate subgroup between these species, were cytogenetically studied by conventional Giemsa staining, C-banding and staining of the nucleolus organizer region (NOR. The nuclear DNA content and seroproteins were also analyzed to characterize these species, and verify the possibility of hybridization between them. Karyotypes and cytogenetic markers were essentially equal on the basis of the methods used. The DNA nuclear content found was 6.25 ± 0.30 pg/DNA in Bufo ictericus; 7.57 ± 0.40 pg/DNA in Bufo paracnemis and 7.04 ± 0.29 pg/DNA in the intermediate subgroup. Eletrophoresis of total blood serum in Bufo ictericus, Bufo paracnemis and the intermediate specimens revealed a remarkable difference in the patterns of the protein bands whose molecular weight corresponded to that of albumin. While the parental species presented two different bands, the intermediate form presented 4. However, only three of these bands were seen in each specimen. The results obtained pointed to a high probability for natural hybridization between Bufo ictericus and Bufo paracnemis in the site and specimens studied.

  9. Cytogenetic analysis in Thoracocharax stellatus (Kner, 1858 (Characiformes, Gasteropelecidae from Paraguay River Basin, Mato Grosso, Brazil

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    Edson Silva

    2012-09-01

    Full Text Available Thoracocharax stellatus (Characiformes, Gasteropelecidae is a small Neotropical species of fish, widely distributed in several rivers of South America. Evidence for karyotype heteromorphysm in populations from different geographical regions has been reported for this species. In this way, populations of T. stellatus from the Paraguay River basin were cytogenetically characterized and the results were compared with other studies performed in the same species but from different basins. The results showed a diploid number of 2n = 54 for T. stellatus, with chromosomes arranged in 6 metacentric (m, 6 submetacentric (sm, 2 subtelocentric (st and 40 acrocentric (a, for both sexes, with a simple Nucleolus Organiser Region (NOR system reported by the techniques of silver nitrate impregnation and fluorescent in situ hybridisation (FISH using 18S rDNA sequences as probe. The distribution of constitutive heterochromatin, observed by the C-band technique and Chromomycin A3 staining showed great similarity among the analyzed populations and consists mainly of discrete blocks in the pericentromeric and telomeric regions of most chromosomes. The presence of female heterogamety was also observed indicating a ZZ/ZW system with W chromosome almost totally heterochromatic. The results also show cytogenetic diversity of the group and are useful to understand the mechanisms of karyotype evolution of the family.

  10. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

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    Manoj Kumar

    2011-01-01

    Full Text Available Treacher Collins syndrome (TCS is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD. The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33 and 3(q23–q25. We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2. This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.

  11. The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

    Science.gov (United States)

    Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M.H.F.; Brilstra, Eva H.; Brown, Chester W.; Brüggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D’Hooghe, Marc; de Vries, Bert B.A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Zepeda Mendoza, Cinthya J.; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Piña Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L.P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M.L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E.

    2017-01-01

    Despite their clinical significance, characterization of balanced chromosomal abnormalities (BCAs) has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and revealed complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. This study proposes that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements, and provides insight into novel pathogenic mechanisms such as altered regulation due to changes in chromosome topology. PMID:27841880

  12. Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

    Science.gov (United States)

    Upma; Kumar, Parvinder; Raina, T. R.; Sharma, Kuldeep; Gupta, Subash

    2010-01-01

    Background: Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocytes of the anemic patients. Aims: The aims of the study were to find out the commonest type of anemia occurring in the population of Jammu, India and to find out the chromosomal changes involved in the disorder. Material and Methods: Present study has been carried out on the bone marrow samples from 53 clinically diagnosed anemic patients. Cytogenetic study was carried out on slides prepared from these samples. Noncytogenetic factors like age, sex, religion, blood groups, family history of anemia, socioeconomic status, etc. have also been included in the study. Results: Megaloblastic anemia was found to be the commonest type of anemia. Centromere stretching, chromatid breaks, gaps, and elongation of chromosomes were recorded in patients with megaloblastic anemia and combined deficiency anemia. However, structural changes and numerical changes were totally absent. Conclusion: The commonest anemia among the people of Jammu region is megaloblastic anemia and its prevalence is increasing every year. Also, megaloblastic anemia is always associated with reversible cytogenetic changes. PMID:20859508

  13. Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

    Directory of Open Access Journals (Sweden)

    Upma

    2010-01-01

    Full Text Available Background : Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocytes of the anemic patients. Aims: The aims of the study were to find out the commonest type of anemia occurring in the population of Jammu, India and to find out the chromosomal changes involved in the disorder. Material and Methods: Present study has been carried out on the bone marrow samples from 53 clinically diagnosed anemic patients. Cytogenetic study was carried out on slides prepared from these samples. Noncytogenetic factors like age, sex, religion, blood groups, family history of anemia, socioeconomic status, etc. have also been included in the study. Results: Megaloblastic anemia was found to be the commonest type of anemia. Centromere stretching, chromatid breaks, gaps, and elongation of chromosomes were recorded in patients with megaloblastic anemia and combined deficiency anemia. However, structural changes and numerical changes were totally absent. Conclusion: The commonest anemia among the people of Jammu region is megaloblastic anemia and its prevalence is increasing every year. Also, megaloblastic anemia is always associated with reversible cytogenetic changes.

  14. Cytogenetic Analysis of the Primary Amphidiploid Derived from Interspecific Hybridization in Cucumis and Its Selfed Progenies

    Institute of Scientific and Technical Information of China (English)

    CHEN Jin-feng; QIAN Chun-tao; J E Staub; LUO Xiang-dong; ZHUANG Fei-yun

    2005-01-01

    Studies on the reproduction and cytogenetic characterization of a primary amphidiploid Cucumis species C. hytivus Chen and Kirkbride (2n = 4x = 38) indicated that a more comprehensive cytogenetic analysis of this species and its first selfed progeny would increase its potential utility in cucumber improvement. With tendrils used as source materials for mitotic analysis, chromosome numbers in all selfed progenies were 2n = 38, confirming chromosomal stability in this synthetic amphidiploid species. Detailed meiotic processes were described by comparing the primary and the selfed amphidiploids.Meiotic abnormalities, such as chromosome lagging, unequal separation, chromosome multi-polarization and polyads were observed frequently in all amphidiploid plants except for the selfed no.8, in which meiosis was arrested prior to metaphase I. Generally, the frequency of multivalents was higher and the configurations were more complex in the selfed progenies, demonstrating a more extensive genetic exchange between cucumber and C. hystrix Chakr. Genome separation between cucumber and C. hystrix was observed through prophase ! to anaphase I in both generations of the amphidiploids. Consequently, in addition to n = 19, a new gamete with n = 7 was produced, which was confirmed by the chromosome counts 2n = 14 in the backcrossing progenies from cucumber × amphidiploid mating. Fertility varied among the selfed amphidiploid plants. The selfed plant no. 1 was found to have an improved fertility (e.g., pollen staining ability 40.8% and 25.6 seeds per fruit) and then was used as source germplasm in further introgression and gene exchange experiments.

  15. Highly distinct chromosomal structures in cowpea (Vigna unguiculata), as revealed by molecular cytogenetic analysis.

    Science.gov (United States)

    Iwata-Otsubo, Aiko; Lin, Jer-Young; Gill, Navdeep; Jackson, Scott A

    2016-05-01

    Cowpea (Vigna unguiculata (L.) Walp) is an important legume, particularly in developing countries. However, little is known about its genome or chromosome structure. We used molecular cytogenetics to characterize the structure of pachytene chromosomes to advance our knowledge of chromosome and genome organization of cowpea. Our data showed that cowpea has highly distinct chromosomal structures that are cytologically visible as brightly DAPI-stained heterochromatic regions. Analysis of the repetitive fraction of the cowpea genome present at centromeric and pericentromeric regions confirmed that two retrotransposons are major components of pericentromeric regions and that a 455-bp tandem repeat is found at seven out of 11 centromere pairs in cowpea. These repeats likely evolved after the divergence of cowpea from common bean and form chromosomal structure unique to cowpea. The integration of cowpea genetic and physical chromosome maps reveals potential regions of suppressed recombination due to condensed heterochromatin and a lack of pairing in a few chromosomal termini. This study provides fundamental knowledge on cowpea chromosome structure and molecular cytogenetics tools for further chromosome studies.

  16. Cytogenetic analysis of Aegilops chromosomes, potentially usable in triticale (X Triticosecale Witt.) breeding.

    Science.gov (United States)

    Kwiatek, M; Wiśniewska, H; Apolinarska, B

    2013-05-01

    Chromosome identification using fluorescence in situ hybridization (FISH) is widely used in cytogenetic research. It is a diagnostic tool helpful in chromosome identification. It can also be used to characterize alien introgressions, when exercised in a combination with genomic in situ hybridization (GISH). This work aims to find chromosome identification of Aegilops species and Aegilops × Secale amphiploids, which can be used in cereal breeding as a source of favourable agronomic traits. Four diploid and two tetraploid Aegilops species and three Aegilops × Secale hybrids were analysed using FISH with pSc119.2, pAs1, 5S rDNA and 25S rDNA clones to differentiate the U-, M-, S(sh)- and D-subgenome chromosomes of Aegilops genus. Additionally, GISH for chromosome categorization was carried out. Differences in the hybridization patterns allowed to identify all U-, M-, S(sh)- and D-subgenome chromosomes. Some differences in localization of the rDNA, pSc119.2 and pAs1 sequences between analogue subgenomes in diploid and tetraploid species and Aegilops × Secale hybrids were detected. The hybridization pattern of the M and S genome was more variable than that of the U and D genome. An importance of the cytogenetic markers in plant breeding and their possible role in chromosome structure, function and evolution is discussed.

  17. Clinical relevance of cytogenetics to pediatric practice. Postnatal findings of Patau syndrome – Review of 5 cases

    Science.gov (United States)

    PLAIASU, Vasilica; OCHIANA, Diana; MOTEI, Gabriela; ANCA, Ioana; GEORGESCU, Adrian

    2010-01-01

    ABSTRACT Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management. PMID:21977150

  18. Cytogenetics of solid tumors Revisión de tema Citogenética de tumores sólidos

    Directory of Open Access Journals (Sweden)

    José Luis Ramírez Castro

    2002-02-01

    Full Text Available Cytogenetic analysis of tumors has provided valuable information on the biology of cancer. It has been established that more than half of solid tumors show chromosomal anomalies; therefore, cytogenetic analysis is of great usefulness for diagnostic and prognostic purposes. Identification of recurrent chromosomal anomalies in numerous tumors has been considered as an indicador of clinical importance. Cytogenetic studies in tissue tumors have revealed near 100,000 clonal chromosome abnormalities belonging to more that 30,000 human neoplasms. However, due to technical difficulties in cell cultures, only one third of solid tumors have been cytogenetically characterized. Conventional cytogenetics has been very useful for molecular characterization of new oncogenes and tumor-suppressor genes involved in human tumorigenesis. In this review, some important issues related with tumors of chromosomal etiology, the diverse types of chromosomal anomalies with their frequencies, modern diagnostic techniques as well as their impact on the diagnosis and prognosis of cancer are presented. EL análisis citogenético de tumores ha proporcionado valiosa información sobre la biología del cáncer. Se ha establecido que más de la mitad de los tumores sólidos presentan alteraciones cromosómicas; por lo tanto, el análisis citogenético es de gran utilidad para el diagnóstico y el pronóstico. La identificación de cambios cromosómicos específicos recurrentes en numerosos tumores se considera un indicador de importancia clínica. Los estudios en este campo han revelado cerca de 100.000 alteraciones cromosómicas en más de 30.000 neoplasias humanas. Sin embargo, los tumores sólidos son los menos caracterizados citogenéticamente, sólo una tercera parte del total de ellos, debido a problemas técnicos en los cultivos celulares. La citogenética convencional ha sido muy útil para la posterior caracterización molecular de nuevos oncogenes y genes supresores de

  19. Cytogenetic analysis from DNA by comparative genomic hybridization.

    Science.gov (United States)

    Tachdjian, G; Aboura, A; Lapierre, J M; Viguié, F

    2000-01-01

    Comparative genomic hybridization (CGH) is a modified in situ hybridization technique which allows detection and mapping of DNA sequence copy differences between two genomes in a single experiment. In CGH analysis, two differentially labelled genomic DNA (study and reference) are co-hybridized to normal metaphase spreads. Chromosomal locations of copy number changes in the DNA segments of the study genome are revealed by a variable fluorescence intensity ratio along each target chromosome. Since its development, CGH has been applied mostly as a research tool in the field of cancer cytogenetics to identify genetic changes in many previously unknown regions. CGH may also have a role in clinical cytogenetics for detection and identification of unbalanced chromosomal abnormalities.

  20. Congenital malignant melanoma: a case report with cytogenetic studies.

    Science.gov (United States)

    Singh, Krishna; Moore, Stephen; Sandoval, Marina; Balzer, Bonnie; Frishberg, David; Lewin, Sheryl; Schreck, Rhona; Raffel, Leslie

    2013-12-01

    Although rare, congenital malignant melanoma (CMM) should be considered in the differential diagnosis of congenital skin lesions. We report a case of CMM in a 4-month-old infant presenting with an enlarging scalp mass, initially thought to be a hemangioma. Incisional biopsy of the lesion showed a compound congenital nevus with atypical cells suggestive of a proliferative nodule versus malignancy on histopathology. Subsequent excisional biopsy revealed malignant melanoma, and further workup confirmed extensive disease with distant metastases. Cytogenetic analysis of both the tumor sites showed highly abnormal karyotypes including pseudotetraploidy, telomere associations, and evidence of gene amplification, all consistent with malignancy. Fluorescence in situ hybridization demonstrated amplification of the MYC gene, with no copy number changes in CDKN2A (INK4/ARF), PTEN, or Cyclin D1. Our report details the cytogenetic and molecular studies of CMM, which provide insight into the biologic behavior of the lesions and may confirm diagnosis when histopathology is not determinant.

  1. Chorionic villus sampling in continuing pregnancies. II. Cytogenetic reliability.

    Science.gov (United States)

    Martin, A O; Simpson, J L; Rosinsky, B J; Elias, S

    1986-06-01

    Cytogenetic analysis was performed on 103 chorionic villus samples. Analysis of the 103 samples revealed six abnormalities. In three of the six the abnormalities were confirmed in fetal or neonatal tissue (47,XY, + 13; 46,XY, t(13q13q); 45,X). In three samples the abnormalities detected were not confirmed; in two of the three the abnormalities were detected only in long-term cultures, whereas in the other samples the abnormality was restricted to direct analysis of the villi after overnight incubation. Our initial experience leads us to conclude that certain abnormalities in chorionic villus sampling may not be indicative of fetal abnormalities; 45,X/46,XX or 45,X/46,XY mosaicism is such a complement. Discrepancies between cytogenetic analysis of intact villi processed soon after sampling and of cells grown in culture can be managed by adhering to several suggested guidelines and by liberal use of confirmatory amniocentesis.

  2. Cytogenetics of intergeneric hybrids between Brassica species and Orychophragmus violaceus

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    In the sexual intergeneric hybrids between the cultivated Brassica species and Orychophragmus violaceus, both complete separation and partial separation of the parental genomes were found to occur during mitosis and meiosis under genetic control. The cytogenetics of these hybrids was species-specific for Brassica parents. The different chromosome behavior of hybrids with three Brassica diploids ( B. campestris , B. nigra and B. oleracea ) might contribute to the different cytogenetics of hybrids with three tetraploids ( B. napus, B. juncea and B. carinata). Owing to the parental genome separation, Brassica homozygous plants and aneuploids with various chromosome constitutions were identifiable in the progenies of these hybrids, which were valuable for the study of the structure and evolution of Brassica genome and for the breeding of Brassica crops.

  3. Nanotechnology and molecular cytogenetics: the future has not yet arrived

    OpenAIRE

    2010-01-01

    Quantum dots (QDs) are a novel class of inorganic fluorochromes composed of nanometer-scale crystals made of a semiconductor material. They are resistant to photo-bleaching, have narrow excitation and emission wavelengths that can be controlled by particle size and thus have the potential for multiplexing experiments. Given the remarkable optical properties that quantum dots possess, they have been proposed as an ideal material for use in molecular cytogenetics, specifically the technique of ...

  4. Use of chromosome microdissection in fish molecular cytogenetics

    OpenAIRE

    2008-01-01

    Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chro...

  5. Cytogenetic variability in pinus sylvestris L. populations experiencing anthropogenic influence

    Energy Technology Data Exchange (ETDEWEB)

    Oudalova, A.; Geras' kin, S.; Vasiliev, D.; Dikarev, V. [Russian Institute of Agricultural Radiology and Agroecology, Obninsk (Russian Federation)

    2004-07-01

    Techno-genic pollution has become one of the most significant ecological factors determining biosphere existence and development. An analysis of genetic consequences of the radiation accidents in the South Urals and Chernobyl has shown that mutation and recombination processes are considerably accelerated in plant and animal's populations experiencing techno-genic influence. This implies that there are complicated adaptation processes leading to changes in genetic structure of populations and increasing genetic load. Pinus sylvestris L. populations growing at the territory of the 'radon' Leningrad regional radioactive waste reprocessing enterprise and Sosnovy Bor town were monitored 6 years (1997-2002) by a set of cyto-genetical and morphological tests. Cytogenetic damage levels within intercalary meristem of needle as well as in root meristem of seedlings were found to significantly exceed corresponding controls. A higher radioresistance of the Scots pine seeds analyzed was demonstrated with an acute {gamma}-radiation that also revealed a selection process directed at an enhancement of repair efficiency and resulting in a shift of mean values of radioresistance in populations towards higher values. An enlargement of variance of studied cytogenetic parameters was found in the populations experiencing techno-genic influence. This indicates, with an account of phenomenon of the enhanced radioresistance, that there are processes of cyto-genetical adaptation in the investigated regions. An analysis of the structure of ecological-genetical variability was carried out with the purpose of separating two components in the inter-population variability - the first is engaged to the genetically determined variability of biological characteristics intrinsic for this species, and the second is responsible for the variability originating from anthropogenic contamination of the natural habitat. Changes of these two types of variability were studied in dependence on

  6. Some historical aspects of plant cytogenetics in Argentina and Uruguay

    Directory of Open Access Journals (Sweden)

    Juan H. Hunziker

    2000-12-01

    Full Text Available A brief account is given of the origin and development of plant cytogenetics in Argentina and Uruguay, along with some of the factors that hampered the development of this area.Uma breve narrativa é dada sobre a origem e desenvolvimento de citogenética em plantas na Argentina e Uruguai, juntamente com alguns fatores que prejudicaram o desenvolvimento desta area.

  7. Cytogenetic analysis in 61 couples with spontaneous abortions

    Institute of Scientific and Technical Information of China (English)

    江静; 傅曼芬; 王德芬

    2001-01-01

    Objective To examine the relationship between spontaneous abortion and chromosomal abnormalities. Methods Couples who had one or more consecutive spontaneous abortions and had normal genitals were enrolled for cytogenetic karyotype analysis. Results In the 61 couples, the detected incidence was 11.5%, with five Robertsonian translocations, one reciprocal translocation, and one pericentric inversion of chromosome 7. Conclusion Chromosomal abnormalities may play an important role in fetal wastage.

  8. Results of six years of cytogenetic studies in amniotic fluid

    Directory of Open Access Journals (Sweden)

    Enelis Reyes Reyes

    2015-10-01

    Full Text Available Background: research into different genetic diseases is one of the preventive programs of paramount importance at public health level. The early detection of chromosomopathies and the establishment of an appropriate strategy reduce the morbidity-morality rate and improve the patients’ quality of life.Objective: to describe the behavior of the results of the cytogenetic studies in the amniotic fluid of pregnant women from Las Tunas province during six years: from 2008 to 2014.Methods: a retrospective and descriptive study was carried out to assess the results of cytogenetic studies in amniotic liquid during six years: from 2008 to 2014. The statistical records were checked and the results, the indication criteria, the behavior of the age groups in women advanced in age and the diagnosed chromosomopathies were assessed.Results: the samples with results that exceeded the non-conclusive and positive women prevailed; 2, 3 positive cases of chromosomopathies were diagnosed out of 100 studied women at risk; pregnant women of advanced gestational years prevailed as indication criterion, being the 37 to 40 years old age group the predominant one; in the positive cases, numeric chromosomopathies of the type trisomy 21 or Down’s syndrome prevailed, with a frequency of 1, 2 out of 100 pregnant women at risk.Conclusions: the program of the cytogenetic diagnosis in the amniotic fluid has been an effective tool to detect congenital prenatal defects by chromosomopathies, very useful in the process of genetic advice.

  9. An overview of cytogenetics of the tribe Meliponini (Hymenoptera: Apidae).

    Science.gov (United States)

    Tavares, Mara Garcia; Lopes, Denilce Meneses; Campos, L A O

    2017-06-01

    The present study provides a comprehensive review of cytogenetic data on Meliponini and their chromosomal evolution. The compiled data show that only 104 species of stingless bees, representing 32 of the 54 living genera have been studied cytogenetically and that among these species, it is possible to recognize three main groups with n = 9, 15 and 17, respectively. The first group comprises the species of the genus Melipona, whereas karyotypes with n = 15 and n = 17 have been detected in species from different genera. Karyotypes with n = 17 are the most common among the Meliponini studied to date. Cytogenetic information on Meliponini also shows that although chromosome number, in general, is conserved among species of a certain genus, other aspects, such as chromosome morphology, quantity, distribution and composition of heterochromatin, may vary between them. This reinforces the fact that the variations observed in the karyotypes of different Meliponini groups cannot be explained by a single theory or a single type of structural change. In addition, we present a discussion about how these karyotype variations are related to the phylogenetic relationships among the different genera of this tribe.

  10. [Cytogenetic effects in Allium schoenoprasum growing on the anthropogenically contaminated soil].

    Science.gov (United States)

    Belykh, E S; Maystrenko, T A

    2015-01-01

    Cytogenetic effects in Allium schoenoprasum meristematic root tip cells grown for a year on the territory contaminated with 235U, 238U and 232Th decay series radionuclides, heavy metals and As were studied. The area is characterized with different concentrations of chemical compounds in soil affecting a toxic element migration in biocoenosis. Analysis of the chromosome aberration spectrum showed an ambiguous cell response to soil contamination. Within the weighted absorbed dose range up to 1.2 Gy the higher the dose the aberrant cell frequency increase was shown. But further increase in the dose resulted in a genotoxic effect decrease due to high toxic effects of heavy metals and radionuclides in soil. This was registered as a mitotic index decrease that can provoke a chromosome aberration frequency underestimation and result in erroneous conclusions about genotoxic effects in A. schoenoprasum used as a bioindicator.

  11. The importance of histology and cytogenetics in decision making for renal cell carcinoma.

    Science.gov (United States)

    Garcia, Julia G; Picken, Maria M; Flanigan, Robert C

    2008-04-01

    The role of histology and cytogenetics in the diagnosis of renal cell carcinoma continues to evolve. The symbiotic relationship between histology and cytogenetics helps assure the most accurate diagnosis. Prognostic factors are known and continue to be undiscovered. Patient counseling certainly benefits from this information. Further knowledge and differentiation of renal cell carcinoma disease pathways has allowed for the development of targeted therapies. The benefit of these therapies hinges on the critical diagnosis attained via the role of histology and cytogenetics.

  12. Cytogenetics of the true bug infraorder Cimicomorpha (Hemiptera, Heteroptera): a review

    OpenAIRE

    Valentina Kuznetsova; Snejana Grozeva; Seppo Nokkala; Christina Nokkala

    2011-01-01

    Abstract The Cimicomorpha is one of the largest and highly diversified infraorders of the Heteroptera. This group is also highly diversified cytogenetically and demonstrates a number of unusual cytogenetic characters such as holokinetic chromosomes; m-chromosomes; multiple sex chromosome systems; post-reduction of sex chromosomes in meiosis; variation in the presence/absence of chiasmata in spermatogenesis; different types of achiasmate meiosis. We present here a review of essential cytogenet...

  13. Cytogenetic Study in Children with Down Syndrome Among Kosova Albanian Population Between 2000 and 2010

    OpenAIRE

    Kolgeci, Selim; Kolgeci, Jehona; Azemi, Mehmedali; Shala-Beqiraj, Ruke; Gashi, Zafer; Sopjani, Mentor

    2013-01-01

    Conflict of interest: none declared. Aim The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. Methods Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. Results In the time period 2000-2010 cytogenetics diagnosis of overall 305 children with Down syndrome has been...

  14. Successful treatment of acute myelogenous leukemia with favorable cytogenetics by reduced-intensity stem cell transplantation.

    Science.gov (United States)

    Kondo, Takeshi; Yasumoto, Atsushi; Arita, Kotaro; Sugita, Jun-Ichi; Shigematsu, Akio; Okada, Kohei; Takahata, Mutsumi; Onozawa, Masahiro; Kahata, Kaoru; Takeda, Yukari; Obara, Masato; Yamamoto, Satoshi; Endo, Tomoyuki; Nishio, Mitsufumi; Sato, Norihiro; Tanaka, Junji; Hashino, Satoshi; Koike, Takao; Asaka, Masahiro; Imamura, Masahiro

    2010-03-01

    Acute myelogenous leukemia (AML) with favorable cytogenetics responds well to chemotherapy. If the leukemia relapses, allogenic hematopoietic stem transplantation (allo-HSCT) is considered as a treatment option. Since the efficacy of reduced-intensity stem cell transplantation (RIST) for AML with favorable cytogenetics has not been established, we retrospectively analyzed the outcomes of allo-HSCT in AML patients according to cytogenetic risks. The outcome of allo-HSCT for AML patients with favorable cytogenetics seemed to be superior to that for AML patients with intermediate cytogenetics. In AML patients with favorable cytogenetics, the 3-year overall survival (OS) and relapse-free survival (RFS) rates were 88 and 76%, respectively, in the RIST group. Both the 3-year OS and RFS rates were 81% in the conventional stem cell transplantation (CST) group. The outcome of RIST for AML patients with favorable cytogenetics was comparable to that for patients who received CST despite the more advanced age and greater organ dysfunction in RIST group than in CST group. None of the patients died within 90 days after RIST. Moreover, there was no relapse in patients with favorable cytogenetics who were in hematological remission prior to RIST. Thus, RIST for AML patients with favorable cytogenetics in remission is safe and effective.

  15. [Prognostic significance of cytogenetics in aged patients with acute myeloid leukemia].

    Science.gov (United States)

    Lin, Jie; Zhu, Hong-Li

    2015-04-01

    Aged patients with acute myeloid leukemia accounted for more than half of the adult AML patients, which has characteristics of low complete remission rate, short overall survival and poor prognosis. Recently, the importance of cytogenetics in AML was gradually realized. The diagnosis and typing, prognosis stratification and guide for treatment are performed on the basis of cytogenetics, but the research on influence of cytogenetics on adged patients with AML are relatively few. This review briefly summarizes the prognostic significance of cytogenetics in aged patients with AML.

  16. The significance of cytogenetics for the study of karyotype evolution and taxonomy of water bugs (Heteroptera, Belostomatidae) native to Argentina

    Science.gov (United States)

    Gabriela, Chirino Mónica; Papeschi, Alba Graciela; Bressa, María José

    2013-01-01

    Abstract Male meiosis behaviour and heterochromatin characterization of three big water bug species were studied. Belostoma dentatum (Mayr, 1863), Belostoma elongatum Montandon, 1908 and Belostoma gestroi Montandon, 1903 possess 2n = 26 + X1X2Y (male). In these species, male meiosis is similar to that previously observed in Belostoma Latreille, 1807. In general, autosomal bivalents show a single chiasma terminally located and divide reductionally at anaphase I. On the other hand, sex chromosomes are achiasmatic, behave as univalents and segregate their chromatids equationally at anaphase I. The analysis of heterochromatin distribution and composition revealed a C-positive block at the terminal region of all autosomes in Belostoma dentatum, a C-positive block at the terminal region and C-positive interstitial dots on all autosomes in Belostoma elongatum, and a little C-positive band at the terminal region of autosomes in Belostoma gestroi. A C-positive band on one bivalent was DAPI negative/CMA3 positive in the three species. The CMA3-bright band, enriched in GC base pairs, was coincident with a NOR detected by FISH. The results obtained support the hypothesis that all species of Belostoma with multiple sex chromosome systems preserve NORs in autosomal bivalents. The karyotype analyses allow the cytogenetic characterization and identification of these species belonging to a difficult taxonomic group. Besides, the cytogenetic characterization will be useful in discussions about evolutionary trends of the genome organization and karyotype evolution in this genus. PMID:24260694

  17. Cytogenetic heterogeneity and their serial dynamic changes during acquisition of cytogenetic aberrations in cultured mesenchymal stem cells

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung-Ah [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Im, Kyong Ok; Park, Si Nae; Kwon, Ji Seok [Cancer Research Institute, Seoul National University College of Medicine, Seoul (Korea, Republic of); Kim, Seon Young [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Oh, Keunhee; Lee, Dong-Sup [Laboratory of Immunology and Cancer Biology, Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul (Korea, Republic of); Transplantation Research Institute, Seoul National University College of Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Kim, Min Kyung; Kim, Seong Who [Department of Biochemistry and Molecular Biology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Jang, Mi; Lee, Gene [Lab of Molecular Genetics, School of Dentistry and Dental Research Institute, Seoul National University, Seoul (Korea, Republic of); Oh, Yeon-Mok; Lee, Sang Do [Department of Pulmonary and Critical Care Medicine, Asthma Center and Clinical Research Center for Chronic Obstructive Airway Diseases, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of); Lee, Dong Soon, E-mail: soonlee@snu.ac.kr [Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul (Korea, Republic of); Cancer Research Institute, Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2015-07-15

    Highlights: • We evaluated cytogenetic aberrations of MSC during culture using G-banding and FISH. • We tracked the quantitative changes of each clone among heterogeneity upon passages. • The changes of cytogenetic profile upon passages were similar to cancer stem cell. - Abstract: To minimize the risk of tumorigenesis in mesenchymal stem cells (MSCs), G-banding analysis is widely used to detect chromosomal aberrations in MSCs. However, a critical limitation of G-banding is that it only reflects the status of metaphase cells, which can represent as few as 0.01% of tested cells. During routine cytogenetic testing in MSCs, we often detect chromosomal aberrations in minor cell populations. Therefore, we aimed to investigate whether such a minority of cells can expand over time or if they ultimately disappear during MSC passaging. We passaged MSCs serially while monitoring quantitative changes for each aberrant clone among heterogeneous MSCs. To investigate the cytogenetic status of interphase cells, which represent the main population, we also performed interphase FISH analysis, in combination with G-banding and telomere length determination. In human adipose tissue-derived MSCs, 4 types of chromosomal aberrations were found during culturing, and in umbilical cord MSCs, 2 types of chromosomal aberrations were observed. Sequential dynamic changes among heterogeneous aberrant clones during passaging were similar to the dynamic changes observed in cancer stem cells during disease progression. Throughout all passages, the quantitative G-banding results were inconsistent with those of the interphase FISH analysis. Interphase FISH revealed hidden aberrations in stem cell populations with normal karyotypes by G-banding analysis. We found that telomere length gradually decreased during passaging until the point at which cytogenetic aberrations appeared. The present study demonstrates that rare aberrant clones at earlier passages can become predominant clones during

  18. The study on relationship between age and cytogenetic subgroups in 640 patients with de novo acute myeloid leukemia

    Institute of Scientific and Technical Information of China (English)

    苏龙

    2013-01-01

    Objective To analyze the cytogenetic characteristicsof different age subgroups in patients with acute myeloid leukemia(AML),and to explore the relationship between age and cytogenetics.Methods Between

  19. Molecular cytogenetic of the Amoy croaker, Argyrosomus amoyensis (Teleostei, Sciaenidae)

    Science.gov (United States)

    Liao, Mengxiang; Zheng, Jiao; Wang, Zhiyong; Wang, Yilei; Zhang, Jing; Cai, Mingyi

    2017-08-01

    The family Sciaenidae is remarkable for its species richness and economic importance. However, the cytogenetic data available in this fish group are still limited, especially those obtained using fluorescence in situ hybridization (FISH). In the present study, the chromosome characteristics of a sciaenid species, Argyrosomus amoyensis, were examined with several cytogenetic methods, including dual-FISH with 18S and 5S rDNA probes, and a self-genomic in situ hybridization procedure (Self-GISH). The karyotype of A. amoyensis comprised 2n=48 acrocentric chromosomes. A single pair of nucleolar organizer regions (NORs) was located at the proximal position of chromosome 1, which was positive for silver nitrate impregnation (AgNO3) staining and denaturation-propidium iodide (DPI) staining but negative for Giemsa staining and 4',6-diamidino-2-phenylindole (DAPI) staining, and was confirmed by FISH with 18S rDNA probes. The 5S rDNA sites were located at the centromeric region of chromosome 3. Telomeric FISH signals were detected at all chromosome ends with different intensities, but internal telomeric sequences (ITSs) were not found. Self-GISH resulted in strong signals distributed at the centromeric regions of all chromosomes. C-banding revealed not only centromeric heterochromatin, but also heterochromatin that located on NORs, in interstitial and distal telomeric regions of specific chromosomes. These results suggest that the karyotype of Amoy croaker was relatively conserved and primitive. By comparison with the reported cytogenetic data of other sciaenids, it can be deduced that although the karyotypic macrostructure and chromosomal localization of 18S rDNA are conserved, the distribution of 5S rDNA varies dynamically among sciaenid species. Thus, the 5S rDNA sites may have different evolutionary dynamics in relation to other chromosomal regions, and have the potential to be effective cytotaxonomic markers in Sciaenidae.

  20. Cytogenetic Profile of Down Syndrome Cases Seen by a General Genetics Outpatient Service in Brazil

    Science.gov (United States)

    Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika

    2009-01-01

    Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

  1. Methylphenidate and Amphetamine Do Not Induce Cytogenetic Damage in Lymphocytes of Children with ADHD

    Science.gov (United States)

    Witt, Kristine L.; Shelby, Michael D.; Itchon-Ramos, Nilda; Faircloth, Melissa; Kissling, Grace E.; Chrisman, Allan K.; Ravi, Hima; Murli, Hemalatha; Mattison, Donald R.; Kollins, Scott H.

    2008-01-01

    The inducement of chromosomal damage in lymphocytes among children with attention deficit hyperactivity disorder receiving treatment with methylphenidate- or amphetamine-based drugs is investigated. Findings did not reveal significant increases in cytogenetic damage related to the treatment. The risk for cytogenetic damage posed by such products…

  2. 40 CFR 798.5395 - In vivo mammalian bone marrow cytogenetics tests: Micronucleus assay.

    Science.gov (United States)

    2010-07-01

    ... cytogenetics tests: Micronucleus assay. 798.5395 Section 798.5395 Protection of Environment ENVIRONMENTAL... Genetic Toxicity § 798.5395 In vivo mammalian bone marrow cytogenetics tests: Micronucleus assay. (a) Purpose. The micronucleus test is a mammalian in vivo test which detects damage of the chromosomes...

  3. Comparison between cytogenetic damage induced in human lymphocytes by environmental chemicals or radiation

    Energy Technology Data Exchange (ETDEWEB)

    Cebulska-Wasilewska, A. [Institute of Nuclear Physics, Cracow (Poland)

    1997-12-31

    Author compared cytogenetic effects of chemicals (benzene and the member at benzene related compounds) and ionizing radiation on the human lymphocytes. Levels of various types of cytogenetic damage observed among people from petroleum plants workers groups are similar to the levels of damages detected in the blood of people suspected of the accidental exposure to a radiation source

  4. Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

    Science.gov (United States)

    Venegas-Vega, Carlos A; Fernández-Ramírez, Fernando; Zepeda, Luis M; Nieto-Martínez, Karem; Gómez-Laguna, Laura; Garduño-Zarazúa, Luz M; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  5. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    Directory of Open Access Journals (Sweden)

    Carlos A. Venegas-Vega

    2013-01-01

    Full Text Available The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH and single-nucleotide polymorphism (SNP microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb. Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling.

  6. Cytogenetics. An evolving role in the diagnosis and treatment of cancer.

    Science.gov (United States)

    Glassman, A B

    1997-03-01

    Conventional cytogenetics has been used for many years in the diagnosis and follow-up of myeloproliferative disorders. Molecular techniques including FISH and gene rearrangements are complementary in the evaluation of myeloproliferative and myelodysplastic disorders. Lymphomas and lymphocytic leukemias have nonrandom cytogenetic patterns that are useful in the clinical diagnosis, prognosis, and therapeutic follow-up. Solid tumors have complex karyotypic and genetic abnormalities, and clinical utilization of conventional cytogenetics and molecular techniques is in the developmental stages of applicability. The benefits of karyotype analysis in myeloproliferative and lymphoproliferative diseases include guidance for diagnostic and therapeutic approaches as well as assessment of minimal residual disease. Conventional cancer cytogenetics and commercially available FISH reagents enhance these applications. Molecular diagnostic techniques are analytically sensitive and specific. The complexities of the function and role of genetic abnormalities in solid tumors present challenges in the choice, interpretation, and application of conventional cytogenetic and molecular data. These challenges offer exciting potential for future advances.

  7. Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.

    Science.gov (United States)

    Polityko, Anna D; Goncharova, Elena; Shamgina, Ludmila; Drozdovskaja, Natalia; Podleschuk, Lubov; Abramchik, Elena; Jaroshevich, Eugenia; Khurs, Olga; Pisarik, Irina; Pribushenya, Oksana; Rumyantseva, Natalia; Naumchik, Irina

    2005-03-01

    Pallister-Killian syndrome (PKS) is characterized cytogenetically by mosaic tetrasomy of chromosome 12p. Routine prenatal diagnosis of PKS is still complicated because of the difficulties of discriminating between the supernumerary isochromosome 12p and the duplication 21q and because of the variable level of mosaicism. The frequency of cells with an extra metacentric chromosome i(12)(p10) is usually determined by tissue-limited or tissue-specific mosaicism. We demonstrated a decrease of the abnormal clone with extra i(12p) in the amniotic fluid cells of the PKS fetus during amniocyte subculturing. The rapid loss of the i(12p) in the course of amniocyte subculturing should be the focus of attention during prenatal karyotyping. This is especially necessary for cultures with slow growth, which require further interpretation of the result during cytogenetic diagnosis of PKS.

  8. Cytogenetic data of Partamona peckolti (Hymenoptera, Apidae, Meliponini by C banding and fluorochrome staining with DA/CMA3 and DA/DAPI

    Directory of Open Access Journals (Sweden)

    Brito Rute Magalhães

    2003-01-01

    Full Text Available The stingless bees of the Partamona genus have been studied taxonomically, ecologically and behaviourally, but cytogenetic studies are still rare. The objective of this study was to obtain cytogenetic data to contribute to Partamona peckolti species characterization. Heterochromatin was localized in all chromosome pericentromeric regions but some blocks could be visualized on some large chromosomes arms. A large heterozygous DA-CMA3-positive band was observed on one large chromosome arm, but was completely absent when C banding was applied before fluorochrome staining, with only one small positive band being visualized. Sequential DA-CMA3-NOR staining of interphase nuclei provided coincident positive responses. This suggests that DA-CMA3-positive bands of P. peckolti correspond to nucleolar organizer regions, as previously confirmed for another Partamona species by FISH.

  9. Cytogenetics in the management of Philadelphia-negative myeloproliferative neoplasms: an update by the Groupe francophone de cytogénétique hématologique (GFCH).

    Science.gov (United States)

    Bilhou-Nabéra, Chrystèle; Bidet, Audrey; Eclache, Virginie; Lippert, Eric; Mozziconacci, Marie-Joëlle

    2016-10-01

    The recent years have witnessed tremendous progress in the molecular characterization of Philadelphia-negative myeloproliferative neoplasms (MPN). Beside a better understanding of pathophysiology, these abnormalities often constitute very useful diagnostic markers in diseases where exclusion of reactive states used to be the strongest argument. However, conventional and molecular cytogenetics keep a major interest in MPN, either as a second line exploration, in cases where no molecular marker is available, for differential diagnosis or as a proof of clonality or in first line for cases with hyperleukocytosis, for differential diagnosis (CML), to evidence druggable targets (ABL1, RET, PDGFR…) or as a prognosis marker. In this article, we will review the interest of cytogenetic techniques in myeloproliferative neoplasms.

  10. Leucemia promielocítica aguda: caracterização de alterações cromossômicas por citogenética tradicional e molecular (FISH Acute promyelocytic leukemia: characterization of chromosome abnormalities by classical cytogenetics and FISH

    Directory of Open Access Journals (Sweden)

    Michele R. Sagrillo

    2005-06-01

    Full Text Available A leucemia promielocítica aguda (LPA corresponde a 10% -15% das leucemias mielóides agudas (LMA. Este tipo de leucemia (LMA-M3 de acordo com a classificação FAB está associado, em cerca de 90% dos casos, à translocação t(15;17(q22;q21, que resulta na fusão dos genes PML e RARalfa. A análise citogenética tradicional tem sido utilizada para confirmar o diagnóstico morfológico da LPA. Embora a t(15;17 não seja detectada em outros tipos de leucemia, podem ocorrer resultados "falso-negativos", decorrentes da análise de células que não pertencem ao clone neoplásico, da dificuldade de visualização da translocação ou, até mesmo, da existência de rearranjos crípticos que mascaram a translocação. Por outro lado, foram descritas alterações cromossômicas alternativas em pacientes com LPA e, nesses casos, o tratamento com ATRA não é eficaz. No período de julho de 1993 a dezembro de 2002 foram encaminhados para análise citogenética 47 casos com suspeita e/ou diagnóstico clínico-morfológico de LPA. Trinta e quatro pacientes (72,3% apresentaram a t(15;17, detectada pela citogenética tradicional e/ou molecular. Em seis destes pacientes foram observadas alterações cromossômicas adicionais ou rearranjos envolvendo um terceiro cromossomo. Em cinco (10% pacientes com características de LPA, a técnica de FISH não revelou a fusão PML/RARalfa, dado importante para a orientação do diagnóstico e da conduta terapêutica desses pacientes. O presente trabalho foi realizado com o objetivo de avaliar a importância da análise citogenética tradicional e molecular no diagnóstico de pacientes com LPA.Acute promyelocytic leukemia (APL accounts for 10 to 15% of acute myeloid leukemias (AML. This type of leukemia (AML-M3 according to the FAB classification is associated, in about 90% of the cases, with a t(15;17(q22;q21 translocation, resulting in the fusion of the PML and RARalpha genes. Traditional cytogenetic analysis has been

  11. Cytogenetic effects of cadmium accumulation on water hyacinth (Eichhornia crassipes)

    Energy Technology Data Exchange (ETDEWEB)

    Rosas, I.; Carbajal, M.E.; Gomez-Arroyo, S.; Belmont, R.; Villalobos-Pietrini, R.

    1984-04-01

    Cadmium was bioassayed to observe cytogenetic effects in the water hyacinth (Eichhornia crassipes). Plants were exposed for 96 hr to freshwater containing 0.01, 0.05, 0.10, 1, 5, and 10 mg/liter of cadmium. Metal concentrations in tissues were determined by atomic absorption spectrophotometry. The highest level was found in roots, thus root-tip cells were used for cytogenetic studies; after 24 hr of exposure, micronuclei, c-mitotic effects, and pycnosis were detected and after 48 hr polyploidy was observed. A linear relationship between frequencies of micronuclei and cadmium concentrations was found; at 1, 5, and 10 mg/liter micronuclei numbers were always the lowest. The inhibition of cell proliferation, shown by the low mitotic index, was proportional to the concentration and time of exposure. From the results presented in this paper it may be concluded that water hyacinth is a good sensor, due to its fast rate of metal accumulation, which allows an easy way to determine the presence of potential mutagenic compounds in water. 63 references.

  12. Hypergranular promyelocytic leukemia (APL): cytogenetic and ultrastructural specificity

    Energy Technology Data Exchange (ETDEWEB)

    Testa, J.R.; Golomb, H.M.; Rowley, J.D.; Vardiman, J.W.; Sweet, D.L. Jr.

    1978-08-01

    Cytogenetic and ultrastructural findings were important diagnostic indicators of hypergranular promyelocytic leukemia (APL) in a patient whose bone marrow morphology appeared, by light microscopy, to be similar to that in acute myeloblastic leukemia (AML) with maturation. Peripheral blood smears and bone marrow specimens examined by light microscopy showed few cells with the numerous coarse, azurophilic granules typical of APL. Cytogenetic analyses, with several banding techniques, of cells from bone marrow and unstimulated peripheral blood revealed the 15; 17 translocation, which has been observed only in APL. A reinterpretation of the reciprocal translocation, based on R banding, suggests that the breakpoints are distal to q24 in No. 15 and at or near the junction of q21 and q22 in No. 17. In addition, the patient had disseminated intravascular coagulation. The characteristic morphology of granules seen in APL was observed in this case only when transmission electron microscopy was used, since the granules were quite small. Since treatment for AML differs from that for APL, identification of the 15; 17 translocation and ultrastructural evidence of granules represents valuable diagnostic aids for APL.

  13. Systematics of Mepraia (Hemiptera-Reduviidae): cytogenetic and molecular variation.

    Science.gov (United States)

    Calleros, L; Panzera, F; Bargues, M D; Monteiro, F A; Klisiowicz, D R; Zuriaga, M A; Mas-Coma, S; Pérez, R

    2010-03-01

    The haematophagous insects of the subfamily Triatominae (Hemiptera-Reduviidae) have great epidemiological importance as vectors of Trypanosoma cruzi, the causative agent of Chagas disease. Mepraia was originally described as a monotypic genus comprised of Mepraia spinolai, distributed along coastal areas of northern Chile (from Region I to the Metropolitan Region). Recently, some M. spinolai populations have been ranked as a new species named Mepraia gajardoi. Several populations along the distribution range of the genus were sampled, and genetic differentiation was studied based upon the analysis of three molecular markers: cytogenetics (karyotype and chromosome behaviour during meiosis using the C-banding technique), mitochondrial DNA (a cytochrome oxidase I gene fragment), and nuclear ribosomal DNA (intergenic region including the two internal transcribed spacers ITS-1 and ITS-2 and the 5.8S rRNA gene). The data here presented indicate that populations within the Mepraia genus (excluding Region II specimens) can be divided into two separate lineages. One lineage is comprised of specimens from the northernmost Region I and represents M. gajardoi. The other includes samples from the southern III, IV and the Metropolitan Regions, and represents M. spinolai. Region II individuals deserve particular attention as their relationship to the two identified lineages is not clear-cut. While they appear to belong to M. spinolai based on cytogenetics and rDNA markers, COI results indicate a closer relationship to M. gajardoi. This disagreement can be due to mitochondrial DNA introgression or the retention of ancestral polymorphisms.

  14. Cytogenetics and genome evolution in the subfamily Triatominae (Hemiptera, Reduviidae).

    Science.gov (United States)

    Panzera, F; Pérez, R; Panzera, Y; Ferrandis, I; Ferreiro, M J; Calleros, L

    2010-01-01

    The subfamily Triatominae (Hemiptera, Reduviidae), vectors of Chagas disease, includes over 140 species. Karyotypic information is currently available for 80 of these species. This paper summarizes the chromosomal variability of the subfamily and how it may reveal aspects of genome evolution in this group. The Triatominae present a highly conserved chromosome number. All species, except 3, present 20 autosomes. The differences in chromosome number are mainly caused by variation in the number of sex chromosomes, due to the existence of 3 sex systems in males (XY, X(1)X(2)Y and X(1)X(2)X(3)Y). However, inter- and intraspecific differences in the position, quantity and meiotic behavior of constitutive heterochromatin, in the total genome size, and in the location of ribosomal 45S rRNA clusters, have revealed considerable cytogenetic variability within the subfamily. This cytogenetic diversity offers the opportunity to perform cytotaxonomic and phylogenetic studies, as well as structural, evolutionary, and functional analyses of the genome. The imminent availability of the complete genome of Rhodnius prolixus also opens new perspectives for understanding the evolution and genome expression of triatomines. The application of fluorescence in situ hybridization for the mapping of genes and sequences, as well as comparative analyses of genome homology by comparative genomic hybridization will be useful tools for understanding the genomic changes in relation to evolutionary processes such as speciation and adaptation to different environments.

  15. Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers.

    Science.gov (United States)

    Ioannou, D; Meershoek, E J; Thornhill, A R; Ellis, M; Griffin, D K

    2011-01-01

    From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics. Following single colour experiments, more fluorochromes were added, culminating in a 24 colour assay that could distinguish all human chromosomes. Interphase cytogenetics (the detection of chromosome copy number in interphase nuclei) soon followed, however 24 colour experiments are hampered for this application as mixing fluorochromes to produce secondary colours produces images that are not easily distinguishable from overlapping signals. This study reports the development and use of a novel protocol, new fast hybridising FISH probes, and a bespoke image capture system for the assessment of chromosome copy number in interphase nuclei. The multicolour probe sets can be used individually or in sequential hybridisation layers to assess ploidy of all 24 human chromosomes in the same nucleus. Applications of this technique are in the investigation of chromosome copy number and the assessment of nuclear organisation for a range of different cell types including human sperm, cancer cells and preimplantation embryos.

  16. Molecular cytogenetic applications in analysis of the cancer genome.

    Science.gov (United States)

    Rao, Pulivarthi H; Nandula, Subhadra V; Murty, Vundavalli V

    2007-01-01

    Cancer cells exhibit nonrandom and complex chromosome abnormalities. The role of genomic changes in cancer is well established. However, the identification of complex and cryptic chromosomal changes is beyond the resolution of conventional banding methods. The fluorescence microscopy afforded by imaging technologies, developed recently, facilitates a precise identification of these chromosome alterations in cancer. The three most commonly utilized molecular cytogenetics methods comparative genomic hybridization, spectral karyotype, and fluorescence in situ hybridization, that have already become benchmark tools in cancer cytogenetics, are described in this chapter. Comparative genomic hybridization is a powerful tool for screening copy-number changes in tumor genomes without the need for preparation of metaphases from tumor cells. Multicolor spectral karyotype permits visualization of all chromosomes in one experiment permitting identification of precise chromosomal changes on metaphases derived from tumor cells. The uses of fluorescence in situ hybridization are diverse, including mapping of alteration in single copy genes, chromosomal regions, or entire chromosomes. The opportunities to detect genetic alterations in cancer cells continue to evolve with the use of these methodologies both in diagnosis and research.

  17. The results of cytogenetic analyses in prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Jovanović-Privrodski Jadranka

    2007-01-01

    Full Text Available Introduction. G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization and SKY (Spectral Karyotyping. Material and methods. This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007 at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis. Results Over a 15-year period (1992 - 2007 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations. Discussion. On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000 of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000. Conclusion. It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

  18. [Dicentric Y chromosomes. First part: cytogenetic and molecular aspects].

    Science.gov (United States)

    Bouayed Abdelmoula, N; Amouri, A

    2005-01-01

    Dicentric Y chromosomes have been reviewed twice in 1994 by Hsu et al. and in 1995 by Tuck-Muller et al. who showed that dic(Y) are the most common Y structural abnormalities and that their influence on gonadal and somatic development is extremely variable. The prediction of their phenotypic consequences is often difficult because of the variety of genomic sequences concerned by duplications and deletions, because of the variable degrees of mosaicism (cell line 45,X in particular) and at the end, because of identification and analysis technical difficulties of the structure of the rearranged Y chromosome. The clinical specter of this cytogenetic abnormality is rather wide going from almost-normal or infertile males, to females with or without stigmas of Turner syndrome. Middle phenotypes consist of various degrees of genital ambiguities. However, clinical expression seems to be related to the genomic capital of the Y chromosome, mainly the Y genes involved in the control of the process of the determination of gonads (Yp) and spermatogenesis (Yq) as well as control of the growth and the skeletal development (Yp). Here, we report a third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. In the light of previous reviews as well as the recent data of the genetic cartography of the Y chromosome, we try, in this first part, to determine characteristics of reported dicentric Y chromosomes as well as their chromosomal mechanics, their mitotic stability and finally their cytogenetic and molecular investigations.

  19. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    Science.gov (United States)

    Loft, A; Tabor, A

    1984-01-01

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.

  20. Molecular and cytogenetic assessment of Dipterygium glaucum genotoxicity.

    Science.gov (United States)

    Altwaty, Nada H; El-Sayed, Osama E; Aly, Nariman A H; Baeshen, Mohamed N; Baeshen, Nabih A

    2016-01-01

    The aim of the present study is to assess the genotoxicity of Dipterygium glaucum grows widely in Saudi Arabia desert to produce safety herbal products. This work is considered the first and pioneer report so far due to the lack and poor evaluated reports of the plant species for their mutagensity, genotoxicity and cytogenetics effects. Cytogenetic effects of D. glaucum on mitotic in roots of Vicia faba showed reduction in mitotic activity using three extracts; water, ethanol and ethyl acetate. Chromosomal abnormalities were recorded that included stickiness of chromosomes, chromatin bridge, fragments, lagging chromosome and micronuclei. Protein bands and RAPD analyses of V. faba treated with three D. glaucum extracts revealed some newly induced proteins and DNA fragments and other disappeared. Chemical constitution of the plant species should be identified with their biological activities against human and animal cells like HeLa cancer cell line. We are recommending using additional genotoxicity tests and other toxicity tests on animal culture with different concentrations and also utilizing several drought and heat tolerant genes of the plant species in gene cloning to develop and improve other economical crop plants instead of using the species as oral herbal remedy.

  1. A cytogenetic view of sex chromosome evolution in plants.

    Science.gov (United States)

    Armstrong, S J; Filatov, D A

    2008-01-01

    The recent origin of sex chromosomes in plant species provides an opportunity to study the early stages of sex chromosome evolution. This review focuses on the cytogenetic aspects of the analysis of sex chromosome evolution in plants and in particular, on the best-studied case, the sex chromosomes in Silene latifolia. We discuss the emerging picture of sex chromosome evolution in plants and the further work that is required to gain better understanding of the similarities and differences between the trends in animal and plant sex chromosome evolution. Similar to mammals, suppression of recombination between the X and Y in S. latifolia species has occurred in several steps, however there is little evidence that inversions on the S. latifolia Y chromosome have played a role in cessation of X/Y recombination. Secondly, in S. latifolia there is a lack of evidence for genetic degeneration of the Y chromosome, unlike the events documented in mammalian sex chromosomes. The insufficient number of genes isolated from this and other plant sex chromosomes does not allow us to generalize whether the trends revealed on S. latifolia Y chromosome are general for other dioecious plants. Isolation of more plant sex-linked genes and their cytogenetic mapping with fluorescent in situ hybridisation (FISH) will ultimately lead to a much better understanding of the processes driving sex chromosome evolution in plants. 2008 S. Karger AG, Basel

  2. [Cytogenetic aberrations in histologically benign infiltratively growing sphenoid wing meningiomas].

    Science.gov (United States)

    Korshunov, A G; Cherekaev, V A; Bekiashev, A Kh; Sycheva, R V

    2007-01-01

    Meningiomas of the sphenoid wing (SW) frequently show an invasive pattern of growth and cause destruction of the adjacent structures. As a result, the rate of recurrent SW meningiomas is as high as 30%. Cytogenetic investigations showed no aberrations specific to invasively growing meningiomas. During this study, the authors evaluated 10 invasive and 5 non-invasive SW meningiomas via comparative genome hybridization (CGH) (matrix CGH), by using the gene chips of GenoSensor Array micromatrixes. The mean number of aberrations in the tumor cells was much greater in case of invasive meningiomas (67.4 versus 40.5 in case of non-invasive SW meningiomas. Furthermore, in invasive SW meningiomas, there were frequently losses in loci 1p, 6q, and 14q and gains in loci 15q and 10, which had been predetermined as molecular markers of stepwise progression of meningioma. Thus, the presence of a complex cytogenetic profile and progression-associated chromosome aberrations in benign SW meningiomas is linked with the increase of their invasive potential. Due to the fact that there are no well-defined adjuvant therapy regimens for recurring meningiomas at present, the revealed genomic aberrations may become potential targets for searching for drugs and a therapeutic intervention in future.

  3. Molecular and cytogenetic assessment of Dipterygium glaucum genotoxicity

    Directory of Open Access Journals (Sweden)

    NADA H. ALTWATY

    2016-01-01

    Full Text Available ABSTRACT The aim of the present study is to assess the genotoxicity of Dipterygium glaucum grows widely in Saudi Arabia desert to produce safety herbal products. This work is considered the first and pioneer report so far due to the lack and poor evaluated reports of the plant species for their mutagensity, genotoxicity and cytogenetics effects. Cytogenetic effects of D. glaucum on mitotic in roots of Vicia faba showed reduction in mitotic activity using three extracts; water, ethanol and ethyl acetate. Chromosomal abnormalities were recorded that included stickiness of chromosomes, chromatin bridge, fragments, lagging chromosome and micronuclei. Protein bands and RAPD analyses of V. faba treated with three D. glaucum extracts revealed some newly induced proteins and DNA fragments and other disappeared. Chemical constitution of the plant species should be identified with their biological activities against human and animal cells like HeLa cancer cell line. We are recommending using additional genotoxicity tests and other toxicity tests on animal culture with different concentrations and also utilizing several drought and heat tolerant genes of the plant species in gene cloning to develop and improve other economical crop plants instead of using the species as oral herbal remedy

  4. Relevance of stereotyped B-cell receptors in the context of the molecular, cytogenetic and clinical features of chronic lymphocytic leukemia.

    Directory of Open Access Journals (Sweden)

    Francesco Maura

    Full Text Available Highly homologous B-cell receptors, characterized by non-random combinations of immunoglobulin heavy-chain variable (IGHV genes and heavy-chain complementarity determining region-3 (HCDR3, are expressed in a recurrent fraction of patients affected by chronic lymphocytic leukemia (CLL. We investigated the IGHV status of 1131 productive IG rearrangements from a panel of 1126 CLL patients from a multicenter Italian study group, and correlated the presence and class of HCDR3 stereotyped subsets with the major cytogenetic alterations evaluated by FISH, molecular prognostic factors, and the time to first treatment (TTFT of patients with early stage disease (Binet A. Stereotyped HCDR3 sequences were found in 357 cases (31.7%, 231 of which (64.7% were unmutated. In addition to the previously described subsets, 31 new putative stereotypes subsets were identified. Significant associations between different stereotyped HCDR3 sequences and molecular prognostic factors, such as CD38 and ZAP-70 expression, IGHV mutational status and genomic abnormalities were found. In particular, deletion of 17p13 was significantly represented in stereotype subset #1. Notably, subset #1 was significantly correlated with a substantially reduced TTFT compared to other CLL groups showing unmutated IGHV, ZAP-70 or CD38 positivity and unfavorable cytogenetic lesions including del(17(p13. Moreover, subset #2 was strongly associated with deletion of 13q14, subsets #8 and #10 with trisomy 12, whereas subset #4 was characterized by the prevalent absence of the common cytogenetic abnormalities. Our data from a large and representative panel of CLL patients indicate that particular stereotyped HCDR3 sequences are associated with specific cytogenetic lesions and a distinct clinical outcome.

  5. Computer-assisted cytogenetic analysis of 51 malignant peripheral-nerve-sheath tumors : Sporadic vs. neurofibromatosis-type-1-associated malignant schwannomas

    NARCIS (Netherlands)

    Plaat, B E; Molenaar, W M; Mastik, M F; Hoekstra, H J; te Meerman, G J; van den Berg, E

    1999-01-01

    Cytogenetic studies in small groups of patients with malignant peripheral-nerve-sheath tumors (MPNST) revealed complex karyotypes with no consistent changes. A computer-assisted cytogenetic analysis using a cytogenetic database was performed to determine recurrent cytogenetic alterations in 51 MPNST

  6. Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10qin a patient%一4q部分三体10q部分单体患儿的分子细胞遗传分析

    Institute of Scientific and Technical Information of China (English)

    张艳亮; 戴勇; 涂植光; 李启运; 王林纤; 张丽; 曾君; 欧阳志斌

    2010-01-01

    Objective To ascertain the karyotype of a girl with moderate mental retardation and growth retardation, perform correlation analysis between chromosomal variation and phenotype, and investigate the application and superiority of array-based comparative genomic hybridization (array-CGH) in clinical cytogenetic diagnosis. Methods G-banded chromosome analysis, array-CGH, fluorescence in situ hybridization (FISH) and real-time quantitative PCR (RQ-PCR) were used to ascertain the karyotype of the patient and her relatives. Results G-banding analysis of the patient showed a derivative chromosome 10 with an extra fragment on its long arm terminal, both her father and grandmother had an apparently balanced translocation t(4;10)(q25;q26). Array-CGH revealed that the breakpoint on chromosome 4 was located at 4q26. In addition, a microdeletion of about 0. 54 Mb del(10)(q26. 3) was identified from the patient. FISH and RQ-PCR confirmed that the del(10)(q26.3) was also present in both her father and grandmother. Conclusion No recognizable phenotype was associated with del(10)(q26.3). The abnormal phenotypes presented in the patient may be ascribed to the 4q26-q35.2 triplication. Further more, compared with conventional cytogenetic analysis, array-CGH is of high resolution and high accuracy.%目的 确定一生长迟缓、智力低下患儿的核型,分析其染色体变异与表型的相关性,同时探讨微阵列比较基因组杂交(array-based comparative genomic hybridization,array-CGH)在临床分子细胞遗传诊断中的应用及其优越性.方法 应用G显带染色体分析、array-CGH、荧光原位杂交(fluorescence in situ hybridization,FISH)和实时定量PCR(real-time quantitative PCR,RQ-PCR)对患儿及其亲属进行核型分析.结果 G显带染色体分析显示患儿存在1条来源于父亲的10号衍生染色体der(10)t(4;10)(q25;q26),其父亲和祖母均是t(4;10)(q25;q26)平衡易位携带者.Array-CGH显示患儿存在4q26-q35.2

  7. Molecular cytogenetic analysis in the study of brain tumors: findings and applications.

    Science.gov (United States)

    Bayani, Jane; Pandita, Ajay; Squire, Jeremy A

    2005-11-15

    Classic cytogenetics has evolved from black and white to technicolor images of chromosomes as a result of advances in fluorescence in situ hybridization (FISH) techniques, and is now called molecular cytogenetics. Improvements in the quality and diversity of probes suitable for FISH, coupled with advances in computerized image analysis, now permit the genome or tissue of interest to be analyzed in detail on a glass slide. It is evident that the growing list of options for cytogenetic analysis has improved the understanding of chromosomal changes in disease initiation, progression, and response to treatment. The contributions of classic and molecular cytogenetics to the study of brain tumors have provided scientists and clinicians alike with new avenues for investigation. In this review the authors summarize the contributions of molecular cytogenetics to the study of brain tumors, encompassing the findings of classic cytogenetics, interphase- and metaphase-based FISH studies, spectral karyotyping, and metaphase- and array-based comparative genomic hybridization. In addition, this review also details the role of molecular cytogenetic techniques in other aspects of understanding the pathogenesis of brain tumors, including xenograft, cancer stem cell, and telomere length studies.

  8. Occurrence and prognostic significance of cytogenetic evolution in patients with multiple myeloma

    Science.gov (United States)

    Binder, M; Rajkumar, S V; Ketterling, R P; Dispenzieri, A; Lacy, M Q; Gertz, M A; Buadi, F K; Hayman, S R; Hwa, Y L; Zeldenrust, S R; Lust, J A; Russell, S J; Leung, N; Kapoor, P; Go, R S; Gonsalves, W I; Kyle, R A; Kumar, S K

    2016-01-01

    Cytogenetic evaluation at the time of diagnosis is essential for risk stratification in multiple myeloma, however little is known about the occurrence and prognostic significance of cytogenetic evolution during follow-up. We studied 989 patients with multiple myeloma, including 304 patients with at least two cytogenetic evaluations. Multivariable-adjusted regression models were used to assess the associations between the parameters of interest and cytogenetic evolution as well as overall survival. The prognostic significance of baseline cytogenetic abnormalities was most pronounced at the time of diagnosis and attenuated over time. In the patients with serial cytogenetic evaluations, the presence of t(11;14) at the time of diagnosis was associated with decreased odds of cytogenetic evolution during follow-up (odds ratio (OR)=0.22, 95% confidence interval (CI)=0.09–0.56, P=0.001), while the presence of at least one trisomy or tetrasomy was associated with increased odds (OR=2.96, 95% CI=1.37–6.42, P=0.006). The development of additional abnormalities during the 3 years following diagnosis was associated with increased subsequent mortality (hazard ratio=3.31, 95% CI=1.73–6.30, Pclonal disease process for risk assessment and suggest that selected patients may benefit from repeated risk stratification. PMID:26967818

  9. Aspectos morfológicos de frutos e sementes e caracterização citogenética de Crotalaria lanceolata E. Mey. (Papilionoideae - Fabaceae Morphological aspects of fruits and seeds and cytogenetic characterization of Crotalaria lanceolata E. Mey. (Papilionoideae - Fabaceae

    Directory of Open Access Journals (Sweden)

    Débora Aparecida Verde de Andrade

    2008-09-01

    Full Text Available Frutos, sementes e plântulas de Crotalaria lanceolata, conhecida popularmente como guizo-de-cascavel, chocalho-de-cobra, xique-xique ou feijão-de-guizo, planta tóxica infestante que ocorre no Estado de São Paulo, foram estudadas morfologicamente e citogeneticamente. Os frutos são secos, deiscentes, polispérmicos e do tipo legume. As sementes são reniformes e o embrião é constituído de eixo embrionário e dois cotilédones. A testa pode apresentar variadas tonalidades de castanhos. A germinação é epígea e fanerocotiledonar. A espécie apresenta número cromossômico diplóide 2n = 16 com formulação cariotípica 12M + 4SM e comprimento cromossômico médio geral de 3,340 ± 0,689.Crotalaria lanceolata, known popularly as "guizo-de-cascavel", "xique-xique" or "feijão-de-guizo", is a toxic weed that occurs in the state of Sao Paulo. Fruits, seeds and seedlings were studied morphologically and cytogenetically. The fruits are dry, dehiscent, polyspermic legumes. The seeds are kidney shaped and the embryo consists of an embryonic axis and two cotyledons. The seed tegument comes in various chestnut tones. Germination is phanerocotylar and epigeal. The species has a mitotic chromosome number 2n = 16 with karyotype formula 12M + 4SM; overall mean chromosome length is 3.340 ± 0.689.

  10. [The cytogenetic characteristics of 178 acute myeloid leukemia patients].

    Science.gov (United States)

    Liu, Hui; Chang, Nai-bai; Pei, Lei; Ning, Shang-yong; Li, Jiang-tao; Xing, Bao-li; Xu, Xiao-dong

    2011-08-01

    To explore the cytogenetic characteristics of acute myeloid leukemia (AML) patients. The karyotype analysis was performed in 178 AML using the short-term culture of bone marrow cell and G-banding technique. Among the 178 patients, 171 had enough metaphases for analysis and 128 (74.9%) had clonal karyotypic abnormalities. Twenty-seven patients were secondary to myelodysplastic syndrome (MDS-AML), with 25 (92.6%) patients carrying clonal karyotypic abnormalities. Among the remaining 144 patients of de novo AML, 103 (71.5%) had clonal karyotypic abnormalities. The rate of abnormal clonal karyotype was higher in MDS-AML than that of de novo AML (P = 0.021). Among the 171 patients, 41 (24.0%) were in favorable risk group, 80(46.8%) in intermediate risk group and 50 (29.2%) in adverse risk group. t(15;17) was the most common chromosomal aberration. The majority intermediate risk chromosomal aberration was normal karyotype. The most common cytogenetic abnormality among adverse group was a complex karyotype. Adverse cytogenetic aberrations, such as -5/5q-, -7/7q-, frequently occurred in conjunction with one another as part of a complex karyotype. Totally 75 patients were 60 years or older, among them, 16.0% were in favorable risk group, 48.0% in intermediate risk group and 36.0% in adverse risk group. Among 96 younger patients, 30.2% were in favorable risk group, 45.8% in intermediate risk group and 24.0% in adverse risk group. The rate of favorable risk chromosomal aberration was lower in elder patients than in younger (P = 0.031). The rate of adverse risk chromosomal aberration and the rate of monosomal karyotype were higher in MDS-AML than in de novo AML patients (P common favorable, intermediate and adverse chromosomal aberrations were t(15;17), normal karyotype and complex karyotype respectively. The karyotype was poor in MDS-AML and elder AML patients.

  11. Comparative molecular cytogenetic analysis of three Leuciscus species (Pisces, Cyprinidae) using chromosome banding and FISH with rDNA.

    Science.gov (United States)

    Boron, Alicja; Porycka, Katarzyna; Ito, Daisuke; Abe, Syuiti; Kirtiklis, Lech

    2009-03-01

    A comparative molecular cytogenetic analysis was performed on three species of the genus Leuciscus viz. ide L. idus, chub L. cephalus and dace L. leuciscus distributed in Poland, using C-, Ag- and chromomycin A(3) (CMA(3))-stainings and fluorescence in situ hybridization (FISH) with 5.8S + 28S rDNA as a probe. Although the three species examined shared 2n = 50 chromosomes and the largest acrocentric chromosome pair in the complement, they were characterized with karyotypic differences in terms of the number of uni- and biarmed chromosomes and the localization of nucleolar organizer regions (NORs) revealed by Ag-staining and FISH. L. idus and L. cephalus showed the rDNA sites on the long arms of one submetacentric (SM) chromosome pair and on the short arms of one subtelocentric (ST) chromosome pair, respectively. These NORs were CMA(3)-positive, GC-rich and C-positive heterochromatic sites in both species. Such chromosome banding features were also true for four NORs localizing on one of each SM and ST pair in L. leuciscus, but considerable numerical NOR polymorphism became apparent with Ag-staining and FISH due to a different combination of these NOR-bearing SMs and STs in this dace. The present results indicate that the molecular cytogenetic analysis applied herein may become useful to elucidate the karyotype evolution and phylogenetic relationships among the species in the genus Leuciscus and other related groups.

  12. A Comprehensive Update on Molecular and Cytogenetic Abnormalities in T-cell Prolymphocytic Leukemia (T-pll).

    Science.gov (United States)

    Delgado, Paul; Starshak, Phillip; Rao, Nagesh; Tirado, Carlos A

    2012-01-01

    T-cell prolymphocytic leukemia (T-PLL) is a rare form of leukemia composed of mature T-cells that usually presents in older people (median age of 65) with initial high white cell counts, massive splenomegaly, lymphadenopathy, and skin lesions. One of the cornerstones for diagnosing T-PLL includes cytogenetic studies. Most cases of T-PLL will harbor characteristic chromosomal abnormalities involving 14q11. 2 (TCR alpha/delta), 14q32 (TCL1 gene) or Xq28 (MTCP-1 gene), abnormalities of chromosome 8, 12p, and deletions of the long arm of chromosomes 5, 6, 11, and 13. In searching for new T-PLL target genes, recent studies have used techniques such as comparative genomic hybridization (CGH), 50k single nucleotide polymorphism (SNP) arrays with gene expression analysis. More recently, SNP arrays with higher resolution analysis have frequently provided more precise information about submicroscopic gene and genomic lesions as well as breakpoints involved in the pathogenesis of this disease. Herein, we summarize a review of the current literature of cytogenetic findings in T-PLL emphasizing those that may relate to the underlying mechanisms of leukemogenesis in T-PLL. Additionally, we stress the importance of karyotype characterization to accurately diagnose this disease because it usually carries a dismal prognosis that requires aggressive treatment strategies as it is poorly responsive to conventional chemotherapy used for other mature T-cell malignancies.

  13. A case of leucism in the burrowing owl Athene cunicularia (Aves: Strigiformes with confirmation of species identity using cytogenetic analysis

    Directory of Open Access Journals (Sweden)

    Denise M Nogueira

    2011-02-01

    Full Text Available Leucism is an inherited disorder, characterized by the lack of pigments in part or all of the body, normal coloration of the eyes and, in birds, in naked parts such as the bill and legs. This kind of disorder is sometimes erroneously designated as albinism or partial albinism. In this study, we present a case of leucism in a wild owl. The studied individual presented completely white plumage, light-yellow coloration of legs and bill and normal coloration of eyes. According to morphological features, this owl is a specimen of burrowing owl, Athene cunicularia (Molina, 1782. To confirm the species identity, we used cytogenetic analyses for karyotypic determination, comparing it to the previously described one in the literature. We also studied a captive female of A. cunicularia to complement the species karyotype, which was described in the literature based only on a single male. The karyotype of the leucistic owl individual was compatible with the previously published one for A. cunicularia, confirming the bird was a male specimen. Cytogenetic analysis of the captive female showed that the W sex chromosome is metacentric and comparable to the seventh pair in size. This is the first description of a case of leucism in A. cunicularia for South America. Long-term studies are needed in the Neotropical region to evaluate survival and breeding success in leucistic birds.

  14. New record and cytogenetic analysis of Psammolestes tertius Lent & Jurberg, 1965 (Hemiptera, Reduviidae, Triatominae) from Bahia State, Brazil.

    Science.gov (United States)

    Oliveira, J; Alevi, K C C; Fonseca, E O L; Souza, O M F; Santos, C G S; Azeredo-Oliveira, M T V; da Rosa, J A

    2016-06-20

    This paper reports on the first occurrence of Psammolestes tertius in the Chapada Diamantina region, located in the city of Seabra, Bahia State, in northeastern Brazil. Following an active search, 24 P. tertius specimens were collected from Phacellodomus rufifrons (rufous-fronted thornbird) nests. The insects did not present any symptoms of infection by Trypanosoma cruzi. P. tertius males were cytogenetically analyzed, and the results were compared with those of other specimens from the Brazilian State of Ceará. Triatomines from both locations presented the same cytogenetic characteristics: 22 chromosomes, little variation in the size of the autosomes, Y chromosomes that were larger than the X chromosomes, a chromocenter formed only by the sex chromosomes during prophase, and autosomes lacking constitutive heterochromatin. However, it is important to note that this species shows intraspecific chromosomal variation. In light of the results obtained, it is recommended that more studies be performed to characterize P. tertius. These studies will be particularly helpful in understanding this species in ecological, biological, biogeographical, and phylogenetic terms.

  15. Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

    DEFF Research Database (Denmark)

    Therkelsen, A J; Jensen, P K; Hertz, Jens Michael;

    1988-01-01

    First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

  16. Fluorescent in-situ hybridization--some of its applications in clinical cytogenetics.

    Science.gov (United States)

    Gole, L A; Bongso, A

    1997-11-01

    Fluorescent in-situ hybridization (FISH) is becoming more and more relevant as an important future tool in prenatal and pre-implantation genetic diagnosis and cancer cytogenetics. This review describes the FISH technique as applied to whole chromosome spreads and interphase cells and discusses its applications in clinical cytogenetics. Information is presented on the various types of probes and the subsequent hybridization and detection procedures. The potential use of this novel FISH technique in the diagnosis of numerical and structural chromosomal aberrations in routine karyotyping for prenatal diagnosis, tumour cytogenetics and pre-implantation genetic diagnosis is outlined.

  17. Cytogenetics of the true bug infraorder Cimicomorpha (Hemiptera, Heteroptera: a review

    Directory of Open Access Journals (Sweden)

    Valentina Kuznetsova

    2011-12-01

    Full Text Available The Cimicomorpha is one of the largest and highly diversified infraorders of the Heteroptera. This group is also highly diversified cytogenetically and demonstrates a number of unusual cytogenetic characters such as holokinetic chromosomes; m-chromosomes; multiple sex chromosome systems; post-reduction of sex chromosomes in meiosis; variation in the presence/absence of chiasmata in spermatogenesis; different types of achiasmate meiosis. We present here a review of essential cytogenetic characters of the Cimicomorpha and outline the chief objectives and goals of future investigations in the field.

  18. [Cytogenetic abnormalities and gene mutations in myeloid leukemia].

    Science.gov (United States)

    Kato, Naoko; Kitamura, Toshio

    2009-10-01

    Myeloid leukemia is a clinically and genetically heterogeneous disease. Cytogenetic studies have revealed specific chromosomal abnormalities, such as translocations, and inversions. Fusion proteins derived from these abnormalities were identified in various subtypes of leukemia. Because most of these fusion proteins were not sufficient to induce leukemia by themselves in mouse models, additional oncogenic events have been thought to be necessary for leukemogenesis. Recently, a hypothesis called "two-hit model" for leukemia has been proposed. Two broad classes of mutations that proliferative or survival advantage of hematopoietic progenitors and impaired differentiation are required for inducing leukemia. In this article, we summarize some typical chromosomal abnormalities or gene mutations associated with myeloid leukemia on the basis of this hypothesis.

  19. Cytogenetic screening of a canadian pig breeding unit

    Directory of Open Access Journals (Sweden)

    W. A. King

    2010-04-01

    Full Text Available A cytogenetic study was undertaken on the chromosomal makeup and breeding data of 29 boars housed in a Canadian pig farm. Blood cultures were made and chromosome spreads were examined, searching for carriers of chromosomal abnormalities. The investigation revealed that twenty-six individuals had a normal karyotype and 3 (10.3% carried the following aberrations: (a two 1/6 translocations in two - unrelated - individuals, (b one reciprocal translocation rcp(10;13. The litter size of the two boars carrying the 1/6 translocation was, on average, 6.5 and 5.8, respectively. The mean size of the litter sired by the boar carrying the rcp(10;13 was 6.0. As compared with the average litter size (11.0 sired by the normal boars in the herd, the translocations described here seemed to be responsible for ~35% decrease in prolificacy.

  20. [The cytogenetic activity of some brands of epoxy resins].

    Science.gov (United States)

    Iavorovskiĭ, A P; Bariliak, I R; Paustovskiĭ, Iu A

    1996-01-01

    The studies have allow us to ascertain that some epoxy resins, such as DE-500, DE-1000, DE-2000, UP-650, UP-650T, under gastric administration at the dose levels of 1/10 and 1/50 DL50 (DL50 = 5338 +/- 1134, 6644 +/- 1114, 9180 +/- 1154, 7717 +/- 586, 6980 +/- 621 mg/kg for DE-500, DE-1000, DE-2000, UP-650, UP-650T respectively) and ED-22F under inhalational exposure at 1 mg/m3 as per epichlorhydrine over three to four months, have a striking effect on the chromosomal apparatus of the laboratory animals bone marrow cells, bringing about chromosomal structural aberrations. The cytogenetic activity was found to be dependent upon the dose employed as well as duration of the exposure and chemical structure of the epoxy resins.

  1. Alternative statistical methods for cytogenetic radiation biological dosimetry

    CERN Document Server

    Fornalski, Krzysztof Wojciech

    2014-01-01

    The paper presents alternative statistical methods for biological dosimetry, such as the Bayesian and Monte Carlo method. The classical Gaussian and robust Bayesian fit algorithms for the linear, linear-quadratic as well as saturated and critical calibration curves are described. The Bayesian model selection algorithm for those curves is also presented. In addition, five methods of dose estimation for a mixed neutron and gamma irradiation field were described: two classical methods, two Bayesian methods and one Monte Carlo method. Bayesian methods were also enhanced and generalized for situations with many types of mixed radiation. All algorithms were presented in easy-to-use form, which can be applied to any computational programming language. The presented algorithm is universal, although it was originally dedicated to cytogenetic biological dosimetry of victims of a nuclear reactor accident.

  2. Testing hygrometers used in cytogenetics laboratories for metaphase preparation.

    Science.gov (United States)

    Hartley, Thomas; Dun, Karen

    2011-07-01

    This protocol describes procedures for checking small laboratory hygrometers for accuracy at three relative humidity (rh) levels. The work arose out of the need to provide laboratory assessors with documentary evidence that the hygrometer used to monitor humidity in the vicinity of the laboratory where medical cytogenetics testing slides are prepared and dried in the ambient environment is reproducible and sufficiently accurate. The procedure is based upon the physicochemical principle that when water or certain saturated salt solutions are placed into a sealed environment, the humidity will equilibrate to well defined levels. We choose to check our hygrometers at three points: 95%, 75%, and 33% rh, using distilled water, saturated sodium chloride solution, and saturated magnesium chloride solution, respectively. Our results have demonstrated that the procedure is convenient and of sufficient accuracy to be fit for this annual hygrometer validation purpose. The procedure takes 24 hr per relative humidity point checked.

  3. Cytogenetic and molecular genetic alterations in hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Sze-hang LAU; Xin-yuan GUAN

    2005-01-01

    Specific chromosome aberrations are frequently detected during the development of hepatocellular carcinoma. Molecular cytogenetic approaches such as comparative genomic hybridization and loss of heterozygosity analyses have provided fruitful information on changes in HCC cases at the genomic level. Mapping of chromosome gains and losses have frequently resulted in the identification of oncogenes and tumor suppressors, respectively. In this review, we summarize some frequently detected chromosomal aberrations reported for hepatocellular carcinoma cases using comparative genomic hybridization and loss of heterozygosity studies. Focus will be on gains of 1q, 8q, and 20q, and losses of 4q,8p, 13q, 16q, and 17p. We then examine the candidate oncogenes and tumor suppressors located within these regions, and explore their possible functions in hepatocarcinogenesis. Finally, the impact of microarray-based screening platforms will be discussed.

  4. Use of chromosome microdissection in fish molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Frederico Henning

    2008-01-01

    Full Text Available Chromosome microdissection is a technique in which whole chromosomes or chromosomal segments are dissected under an inverted microscope yielding chromosome-specific sequences. Several protocol modifications introduced during the past 15 years reduced the number of chromosomes required for most applications. This is of particular interest to fish molecular cytogenetics, since most species present highly uniform karyotypes which make impossible the collection of multiple copies of the same chromosome. Probes developed in this manner can be used to investigate chromosome homologies in closely related species. Here we describe a protocol recently used in the gymnotiform species group Eigenmannia and review the major steps involved in the generation of these markers focusing on protocol modifications aiming to reduce the number of required chromosomes.

  5. Micropropagation and cytogenetic assessment of Zingiber species of Northeast India.

    Science.gov (United States)

    Das, Archana; Kesari, Vigya; Rangan, Latha

    2013-12-01

    An improved micropropagation protocol was developed for Zingiber moran and Z. zerumbet, two wild species of the genus Zingiber, found in Northeast India. The effects of growth regulators, sugar concentrations, and nutrients were tested on the rate of shoot initiation and multiplication. An increase in proliferation and multiplication occurred in modified Murashige and Skoog (MS) medium supplemented with benzyladenine and kinetin. About 2 % sucrose and 0.7 % agar were found to be the optimum for shoot multiplication and regeneration. Naphthalene acetic acid at 0.5 mg/L produced the best rooting response for both the species. Regenerated plantlets were acclimatized successfully and cytogenetic stability was confirmed by RAPD profiling and ploidy checks.

  6. [The results of cytogenetic studies of workers in industrial enterprises].

    Science.gov (United States)

    Baryliak, I R; Frolov, V M; Peresadin, M O; Vytrishchak, V Ia; Koval'chuk, L Ie

    1995-01-01

    Cytogenetic monitoring of workers of large industrial enterprizes showed the presence of chromatide aberrations in the peripheral blood lymphocytes, which were more manifest in workers of chemical and byproduct cokeplants, and somewhat less apparent in metallurgists. The frequency of metaphases involving chromosomal aberrations is dependent upon the duration of occupational exposure to chemical mutagens. However, the number of chromosomal abberrations does not appear to be influenced by chemical factors remaining essantially the same. The human embrion genome sensitivity to the chemical mutagen action was found to be much higher than that of somatic cells of the adults occupationally exposed to alterating factors. Use of complexes of antioxidants (tocopheroli acetas, quercetin, splenin) makes for reduction in the number of chromosomal aberrations in workers engaged in chemical industry.

  7. Cytogenetic studies in couples experiencing repeated pregnancy losses.

    Science.gov (United States)

    De Braekeleer, M; Dao, T N

    1990-07-01

    A computerized database generated from the literature on cytogenetic studies in couples experiencing repeated pregnancy losses has been set up at the University of Quebec at Chicoutimi. At the present time, it contains data on 22,199 couples (44,398 individuals). The statistical analyses showed a relationship between the distribution of the chromosome abnormalities and the number of abortions. An uneven distribution of the chromosomal structural rearrangements according to the sex of the carrier was found (P less than 0.05). Overall, 4.7% of the couples ascertained for two or more spontaneous abortions included one carrier. It also appeared that only translocations (both reciprocal and Robertsonian) and inversions were associated with a higher risk of pregnancy wastage. Therefore, genetic counselling should be offered to these couples and investigations performed on their extended families.

  8. Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Alessandra Pawelec da Silva

    Full Text Available CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS.DESIGN AND SETTING: Cross-sectional study in a referral hospital in southern Brazil.METHODS: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia.RESULTS: Cytogenetic abnormalities were observed in three cases (13% and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10(q13; q24. We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma.CONCLUSIONS: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients.

  9. Molecular Cytogenetic Analysis of Deschampsia antarctica Desv. (Poaceae), Maritime Antarctic.

    Science.gov (United States)

    Amosova, Alexandra V; Bolsheva, Nadezhda L; Samatadze, Tatiana E; Twardovska, Maryana O; Zoshchuk, Svyatoslav A; Andreev, Igor O; Badaeva, Ekaterina D; Kunakh, Viktor A; Muravenko, Olga V

    2015-01-01

    Deschampsia antarctica Desv. (Poaceae) (2n = 26) is one of the two vascular plants adapted to the harshest environment of the Antarctic. Although the species is a valuable model for study of environmental stress tolerance in plants, its karyotype is still poorly investigated. We firstly conducted a comprehensive molecular cytogenetic analysis of D. antarctica collected on four islands of the Maritime Antarctic. D. antarctica karyotypes were studied by Giemsa C- and DAPI/C-banding, Ag-NOR staining, multicolour fluorescence in situ hybridization with repeated DNA probes (pTa71, pTa794, telomere repeats, pSc119.2, pAs1) and the GAA simple sequence repeat probe. We also performed sequential rapid in situ hybridization with genomic DNA of D. caespitosa. Two chromosome pairs bearing transcriptionally active 45S rDNA loci and five pairs with 5S rDNA sites were detected. A weak intercalary site of telomere repeats was revealed on the largest chromosome in addition to telomere hybridization signals at terminal positions. This fact confirms indirectly the hypothesis that chromosome fusion might have been the cause of the unusual for cereals chromosome number in this species. Based on patterns of distribution of the examined molecular cytogenetic markers, all chromosomes in karyotypes were identified, and chromosome idiograms of D. antarctica were constructed. B chromosomes were found in most karyotypes of plants from Darboux Island. A mixoploid plant with mainly triploid cells bearing a Robertsonian rearrangement was detected among typical diploid specimens from Great Jalour Island. The karyotype variability found in D. antarctica is probably an expression of genome instability induced by environmental stress factors. The differences in C-banding patterns and in chromosome distribution of rDNA loci as well as homologous highly repeated DNA sequences detected between genomes of D. antarctica and its related species D. caespitosa indicate that genome reorganization involving

  10. Myeloid sarcomas: a histologic, immunohistochemical, and cytogenetic study

    Directory of Open Access Journals (Sweden)

    Rodgers William H

    2007-10-01

    Full Text Available Abstract Context. - Myeloid sarcoma (MS is a neoplasm of immature granulocytes, monocytes, or both involving any extramedullary site. The correct diagnosis of MS is important for adequate therapy, which is often delayed because of a high misdiagnosis rate. Objective. - To evaluate the lineage differentiation of neoplastic cells in MS by immunohistochemistry, and to correlate the results with clinicopathologic findings and cytogenetic studies. Design. - Histologic and immunohistochemical examinations were performed on formalin-fixed paraffin-embedded tissue samples from 13 cases of MS. They were classified according to the World Health Organization criteria. Chromosomal analysis data were available in 11 cases. Clinical, pathological, and cytogenetic findings were analyzed. Results. - The study included six male and seven female patients with an age range of 25 to 72 years (mean, 49.3 years and a male to female ratio of 1:1.2. MS de novo occurred in 4/13 (31% of cases examined. The most sensitive immunohistochemical markers were CD43 and lysozyme present in all cases with MS (13/13, 100%. All de novo MS showed a normal karyotype, monoblastic differentiation, and lack of CD34. The most common chromosomal abnormalities in MS associated with a hematopoietic disorder were trisomy 8 and inv(16 (2/11, 18%. Conclusion. - An immunohistochemical panel including CD43, lysozyme, myeloperoxidase (MPO, CD68 (or CD163, CD117, CD3 and CD20 can successfully identify the vast majority of MS variants in formalin-fixed paraffin-embedded tissue sections. The present report expands the spectrum of our knowledge showing that de novo MS has frequent monoblastic differentiation and frequently carries a normal karyotype.

  11. Karyotype Learning Center: A Software For Teaching And Learning Cytogenetics

    Directory of Open Access Journals (Sweden)

    Joelma Freire De Mesquita

    2004-05-01

    Full Text Available The in vitro cultivation of human cells is an essential part of the work of every diagnostic cytoge-netics laboratory. Almost all human cytogenetic studies involve the examination of dividing bloodcell population by blocking cell division at metaphase with subsequent processing and staining bybanding techniques. The chromosome constitution is described as Karyotype that states the totalnumber of chromosomes and the sex chromosome constitution. Karyotypes are prepared by cuttingup a photograph of the spread metaphase chromosomes, matching up homologous chromosomes andsticking them back down on a card or nowadays more often by getting an image analysis computerto do the job. Chromosomes are identied by their size, centromere position and banding pattern.Teaching a student how to detect and interpret even the most common chromosome abnormaliti-es is a major challenge: mainly, in a developing country where the laboratorial facilities are notalways available for a big number of students. Therefore, in this work we present an educationalsoftware for teaching undergraduate students of Medical and Life Sciences Courses how to arrangenormal and abnormal chromosomes in the form of karyotype. The user, using drag-and-drop, is da-red to match up homologous chromosome. For that, we have developed a free full access web site(http://www.biomol.net/cariotipo/ for hosting the software. The latter has proved to be light andfast even under slow dial-up connections. This web site also oers a theoretical introductory sectionwith basic concepts about karyotype. Up to now the software has been successfully applied to un-dergraduate courses at the University of Rio de Janeiro (UNIRIO. The students have approved thesoftware; to them the similarities with the well-known game solitaire turns the exercise more excitingand provides additional stimulus to learn and understand karyotype. Professors have also used thesoftware as complementary material in their regular classes

  12. 75 FR 32484 - Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and...

    Science.gov (United States)

    2010-06-08

    ... Performance Evaluation, Result Reporting and Interpretation. The purpose of the public meeting is to seek input on challenges related to performance evaluation, determination of clinical significance, result... HUMAN SERVICES Food and Drug Administration Array-Based Cytogenetic Tests: Questions on...

  13. New cytogenetically visible copy number variant in region 8q21.2

    Directory of Open Access Journals (Sweden)

    Ewers Elisabeth

    2011-01-01

    Full Text Available Abstract Background Cytogenetically visible unbalanced chromosomal abnormalities (UBCA, reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. It may be speculated, that some of the UBCA may be similar or identical to copy number variants (CNV of the human genome. Results Here we report on a yet unreported cytogenetically visible copy number variant (CNV in the long arm of chromosome 8, region 8q21.2, detected in three unrelated clinically healthy carriers. Conclusion The first description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated. It is a cost efficient, up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected findings.

  14. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects

    NARCIS (Netherlands)

    Blokx, Willeke Am M.; van Dijk, Marcory C. R. F.; Ruiter, Dirk J.

    2010-01-01

    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions. Advantages and limitations of diverse, already established methods, such as (fluorescence) in situ hybridization and mutation analysis, to detect the

  15. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects.

    NARCIS (Netherlands)

    Blokx, W.A.M.; Dijk, M.C.R.F. van; Ruiter, D.J.

    2010-01-01

    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions. Advantages and limitations of diverse, already established methods, such as (fluorescence) in situ hybridization and mutation analysis, to detect the

  16. Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroups

    National Research Council Canada - National Science Library

    Bartuma, Hammurabi; Panagopoulos, Ioannis; Collin, Anna; Trombetta, Domenico; Domanski, Henryk A; Mandahl, Nils; Mertens, Fredrik

    2009-01-01

    ...) of HMGA2 has been suggested to be a common denominator. Seventy adipocytic tumors, representing different morphologic and cytogenetic subgroups, were analyzed by qRT-PCR to study the expression status of HMGA2...

  17. The Impact of the Condenser on Cytogenetic Image Quality in Digital Microscope System

    Directory of Open Access Journals (Sweden)

    Liqiang Ren

    2013-01-01

    Full Text Available Background: Optimizing operational parameters of the digital microscope system is an important technique to acquire high quality cytogenetic images and facilitate the process of karyotyping so that the efficiency and accuracy of diagnosis can be improved.

  18. Cytogenetic abnormalities in 222 infertile men with azoospermia and oligospermia in Iran: Report and review

    Directory of Open Access Journals (Sweden)

    Mohammad T Akbari

    2012-01-01

    Conclusion: Comparison of our results with the review of the literature shows a higher incidence (4- fold of gonosomal, in particular, numerical gonosomal, chromosomal anomalies. Cytogenetic analysis is strongly suggested for infertile men, particularly in those who suffer from azoospermia.

  19. CYTOGENETIC ANALYSIS OF EPITHELIAL RENAL-CELL TUMORS - RELATIONSHIP WITH A NEW HISTOPATHOLOGICAL CLASSIFICATION

    NARCIS (Netherlands)

    VANDENBERG, E; VANDERHOUT, AH; OOSTERHUIS, JW; STORKEL, S; DIJKHUIZEN, T; ZWEERS, HMM; MENSINK, HJA; BUYS, CHCM; DEJONG, B; Dam, A.

    1993-01-01

    Renal-cell carcinomas (RCC) are clinically, histologically and cytogenetically very heterogeneous. The present histological WHO classification shows no clear correlation between histologic subtypes and specific chromosomal abnormalities. In 1986, a new classification was proposed by Thoenes and

  20. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs: a report from an ongoing study by the European Study Group on Cytogenetic Biomarkers and Health

    DEFF Research Database (Denmark)

    Hagmar, L; Bonassi, S; Strömberg, U;

    1998-01-01

    The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serve...... for SCE or MN. A collaborative study between the Nordic and Italian research groups, will enable a more thorough evaluation of the cancer predictivity of the cytogenetic endpoints. We here report on the establishment of a joint data base comprising 5271 subjects, examined 1965-1988 for at least one...... cytogenetic biomarker. Totally, 3540 subjects had been examined for CA, 2702 for SCE and 1496 for MN. These cohorts have been followed-up with respect to subsequent cancer mortality or cancer incidence, and the expected values have been calculated from rates derived from the general populations in each...

  1. Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Reddy Kavita S

    2005-01-01

    Full Text Available Abstract Background Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5–10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been identified. We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory. Methods Data was analyzed from 433 patients with autistic traits tested using chromosome analysis and/or fluorescence in situ hybridization (FISH and/or molecular testing for fragile X syndrome by Southern and PCR methods. Results The median age was 4 years. Sex ratio was 4.5 males to 1 female [354:79]. A chromosome (cs abnormality was found in 14/421 [3.33 %] cases. The aberrations were: 4/14 [28%] supernumerary markers; 4/14 [28%] deletions; 1/14 [7%] duplication; 3/14 [21%] inversions; 2/14 [14%] translocations. FISH was performed on 23 cases for reasons other than to characterize a previously identified cytogenetic abnormality. All 23 cases were negative. Fragile-X testing by Southern blots and PCR analysis found 7/316 [2.2 %] with an abnormal result. The mutations detected were: a full mutation (fM and abnormal methylation in 3 [43 %], mosaic mutations with partial methylation of variable clinical significance in 3 [43%] and a permutation carrier [14%]. The frequency of chromosome and fragile-X abnormalities appears to be within the range in reported surveys (cs 4.8-1.7%, FRAX 2–4%. Limitations of our retrospective study include paucity of behavioral diagnostic information, and a specific clinical criterion for testing. Conclusions Twenty-eight percent of chromosome abnormalities detected in our study were subtle; therefore a high resolution cytogenetic study with a scrutiny of 15q11.2q13, 2q37 and Xp23

  2. [EVALUATION OF THE CYTOGENETIC AND MUTAGEN-MODIFYING ACTIVITY OF CAFFEINE IN MOUSE BONE MARROW CELLS].

    Science.gov (United States)

    Durnev, A D; Kulakova, A V; Zhanataev, A K; Oganesiants, L A

    2015-01-01

    The cytogenetic and mutagen-modifying activity of caffeine was studied with the method of chromosomal aberrations in bone marrow cells of mice hybrids F1 CBAxC57BL/6. Caffeine per se was administered intragastrically or intraperitoneally, and in combination with mutagens--intragastrically. Mutagens injected intraperitoneally. Caffeine at doses of 10 and 100 mg/kg (single dose) and 10 mg/kg (five days) in parenteral administration and oral introduction failed to possess cytogenetic activity. In combination with mutagens caffeine (1, 10 and 100 mg/kg) had no effect on the cytogenetic activity of dioxydine (200 mg/kg/intraperitoneally) for a single coadministration, five-day pre or five-day coadministration. In combination with other mutagens under the same processing conditions caffeine at doses of 10 and 100 mg/kg significantly increased cytogenetic effects of cyclophosphamide (20 mg/kg) in the pretreatment of the animals and at the dose of 100 mg/kg significantly attenuated the cytogenetic effect of cisplatin (5 mg/kg) in single and repeated co-administration. Thus we have shown the absence of caffeine cytogenetic activity in vivo and showed the multidirectional effect of caffeine in doses far exceeding its daily consumption, to the manifestation ofcytogenetic effects of certain chemical mutagens in some modes of processing animals.

  3. Imatinib Mesylate Effectiveness in Chronic Myeloid Leukemia with Additional Cytogenetic Abnormalities at Diagnosis among Black Africans

    Science.gov (United States)

    Aïssata, Tolo Diebkilé; Sawadogo, Duni; Nanho, Clotaire; Kouakou, Boidy; Meité, N'dogomo; Emeuraude, N'Dhatz; Roméo, Ayémou; Yassongui Mamadou, Sekongo; Kouéhion, Paul; Mozart, Konan; Koffi, Gustave; Sanogo, Ibrahima

    2013-01-01

    Imatinib mesylate provides good results in the treatment of CML in general. But what about the results of this treatment in CML associated with additional cytogenetic abnormalities at diagnosis among black Africans? For this, we retrospectively studied 27 cases of CML associated with additional cytogenetic abnormalities, diagnosed in the department of clinical hematology of the University Hospital of Yopougon in Côte d'Ivoire, from May 2005 to October 2011. The age of patients ranged from 13 to 68 years, with a mean age of 38 years and a sex ratio of 2. Patients were severely symptomatic with a high Sokal score of 67%. CML in chronic phase accounted for 67%. The prevalence of additional cytogenetic abnormalities was 29.7%. There were variants of the Philadelphia chromosome (18.5%), trisomy 8 (14.8%), complex cytogenetic abnormalities (18.5%), second Philadelphia chromosome (14.8%), and minor cytogenetic abnormalities (44.4%). Complete hematologic remission was achieved in 59%, with 52% of major cytogenetic remission. The outcome was fatal in 37% of patients. Death was related in 40% to hematologic toxicity and in 30% to acutisation. The median survival was 40 months. PMID:23802015

  4. Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

    Science.gov (United States)

    Yatsenko, Alexander N.; Yatsenko, Svetlana A.; Weedin, John W.; Lawrence, Amy E.; Patel, Ankita; Peacock, Sandra; Matzuk, Martin M.; Lamb, Dolores J.; Cheung, Sau Wai; Lipshultz, Larry I.

    2010-01-01

    Purpose The causes of male infertility are heterogeneous but more than 50% of cases have a genetic basis. Specific genetic defects have been identified in less than 20% of infertile males and, thus, most causes remain to be elucidated. The most common cytogenetic defects associated with nonobstructive azoospermia are numerical and structural chromosome abnormalities, including Klinefelter syndrome (47,XXY) and Y chromosome microdeletions. To refine the incidence and nature of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 668 infertile men with oligozoospermia and azoospermia. Materials and Methods High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done in 668 infertile males referred for routine cytogenetic analysis between January 2004 and March 2009. Results The overall incidence of chromosomal abnormalities was about 8.2%. Of the 55 patients with abnormal cytogenetic findings sex chromosome aneuploidies were observed in 29 (53%), including Klinefelter syndrome in 27 (49%). Structural chromosome abnormalities involving autosomes (29%) and sex chromosomes (18%) were detected in 26 infertile men. Abnormal cytogenetic findings were observed in 35 of 264 patients (13.3%) with azoospermia and 19 of 365 (5.2%) with oligozoospermia. Conclusions Structural chromosomal defects and low level sex chromosome mosaicism are common in oligozoospermia cases. Extensive cytogenetic assessment and fluorescence in situ hybridization may improve the detection rate in males with oligozoospermia. These findings highlight the need for efficient genetic testing in infertile men so that couples may make informed decisions on assisted reproductive technologies to achieve parenthood. PMID:20172548

  5. Integrated cytogenetics and genomics analysis of transposable elements in the Nile tilapia, Oreochromis niloticus.

    Science.gov (United States)

    Valente, Guilherme; Kocher, Thomas; Eickbush, Thomas; Simões, Rafael P; Martins, Cesar

    2016-06-01

    Integration of cytogenetics and genomics has become essential to a better view of architecture and function of genomes. Although the advances on genomic sequencing have contributed to study genes and genomes, the repetitive DNA fraction of the genome is still enigmatic and poorly understood. Among repeated DNAs, transposable elements (TEs) are major components of eukaryotic chromatin and their investigation has been hindered even after the availability of whole sequenced genomes. The cytogenetic mapping of TEs in chromosomes has proved to be of high value to integrate information from the micro level of nucleotide sequence to a cytological view of chromosomes. Different TEs have been cytogenetically mapped in cichlids; however, neither details about their genomic arrangement nor appropriated copy number are well defined by these approaches. The current study integrates TEs distribution in Nile tilapia Oreochromis niloticus genome based on cytogenetic and genomics/bioinformatics approach. The results showed that some elements are not randomly distributed and that some are genomic dependent on each other. Moreover, we found extensive overlap between genomics and cytogenetics data and that tandem duplication may be the major mechanism responsible for the genomic dynamics of TEs here analyzed. This paper provides insights in the genomic organization of TEs under an integrated view based on cytogenetics and genomics.

  6. Molecular Cytogenetics in Trough Shells (Mactridae, Bivalvia: Divergent GC-Rich Heterochromatin Content

    Directory of Open Access Journals (Sweden)

    Daniel García-Souto

    2016-08-01

    Full Text Available The family Mactridae is composed of a diverse group of marine organisms, commonly known as trough shells or surf clams, which illustrate a global distribution. Although this family includes some of the most fished and cultured bivalve species, their chromosomes are poorly studied. In this work, we analyzed the chromosomes of Spisula solida, Spisula subtruncata and Mactra stultorum by means of fluorochrome staining, C-banding and fluorescent in situ hybridization using 28S ribosomal DNA (rDNA, 5S rDNA, H3 histone gene and telomeric probes. All three trough shells presented 2n = 38 chromosomes but different karyotype compositions. As happens in most bivalves, GC-rich regions were limited to the nucleolus organizing regions in Spisula solida. In contrast, many GC-rich heterochromatic bands were detected in both Spisula subtruncata and Mactra stultorum. Although the three trough shells presented single 5S rDNA and H3 histone gene clusters, their chromosomal locations differed. Regarding major rDNA clusters, while Spisula subtruncata presented a single cluster, both Spisula solida and Mactra stultorum showed two. No evidence of intercalary telomeric signals was detected in these species. The molecular cytogenetic characterization of these taxa will contribute to understanding the role played by chromosome changes in the evolution of trough shells.

  7. Molecular Cytogenetics in Trough Shells (Mactridae, Bivalvia): Divergent GC-Rich Heterochromatin Content.

    Science.gov (United States)

    García-Souto, Daniel; Pérez-García, Concepción; Kendall, Jack; Pasantes, Juan J

    2016-08-16

    The family Mactridae is composed of a diverse group of marine organisms, commonly known as trough shells or surf clams, which illustrate a global distribution. Although this family includes some of the most fished and cultured bivalve species, their chromosomes are poorly studied. In this work, we analyzed the chromosomes of Spisula solida, Spisula subtruncata and Mactra stultorum by means of fluorochrome staining, C-banding and fluorescent in situ hybridization using 28S ribosomal DNA (rDNA), 5S rDNA, H3 histone gene and telomeric probes. All three trough shells presented 2n = 38 chromosomes but different karyotype compositions. As happens in most bivalves, GC-rich regions were limited to the nucleolus organizing regions in Spisula solida. In contrast, many GC-rich heterochromatic bands were detected in both Spisula subtruncata and Mactra stultorum. Although the three trough shells presented single 5S rDNA and H3 histone gene clusters, their chromosomal locations differed. Regarding major rDNA clusters, while Spisula subtruncata presented a single cluster, both Spisula solida and Mactra stultorum showed two. No evidence of intercalary telomeric signals was detected in these species. The molecular cytogenetic characterization of these taxa will contribute to understanding the role played by chromosome changes in the evolution of trough shells.

  8. Residual Disease in a Novel Xenograft Model of RUNX1-Mutated, Cytogenetically Normal Acute Myeloid Leukemia.

    Directory of Open Access Journals (Sweden)

    Umayal Sivagnanalingam

    Full Text Available Cytogenetically normal acute myeloid leukemia (CN-AML patients harboring RUNX1 mutations have a dismal prognosis with anthracycline/cytarabine-based chemotherapy. We aimed to develop an in vivo model of RUNX1-mutated, CN-AML in which the nature of residual disease in this molecular disease subset could be explored. We utilized a well-characterized patient-derived, RUNX1-mutated CN-AML line (CG-SH. Tail vein injection of CG-SH into NOD scid gamma mice led to leukemic engraftment in the bone marrow, spleen, and peripheral blood within 6 weeks. Treatment of leukemic mice with anthracycline/cytarabine-based chemotherapy resulted in clearance of disease from the spleen and peripheral blood, but persistence of disease in the bone marrow as assessed by flow cytometry and secondary transplantation. Whole exome sequencing of CG-SH revealed mutations in ASXL1, CEBPA, GATA2, and SETBP1, not previously reported. We conclude that CG-SH xenografts are a robust, reproducible in vivo model of CN-AML in which to explore mechanisms of chemotherapy resistance and novel therapeutic approaches.

  9. Comparative cytogenetics of two species of genus Scobinancistrus (Siluriformes, Loricariidae, Ancistrini from the Xingu River, Brazil

    Directory of Open Access Journals (Sweden)

    Adauto Cardoso

    2013-03-01

    Full Text Available The family Loricariidae encompasses approximately 800 species distributed in six subfamilies. The subfamily Hypostominae consists of five tribes; of them, the tribe Ancistrini is relatively diverse, but it is not well known from the cytogenetic point of view. Genus Scobinancistrus Isbrücker et Nijssen, 1989, which is part of the tribe Ancistrini, has two species that occur in sympatry in the Xingu River, Brazil. In this work, we performed the first karyotypic characterizations of these two species and sought to identify the processes involved in their karyotypic evolution. Chromosomal preparations were subjected to Giemsa staining, silver nitrate impregnation, C-banding, CMA3 staining, DAPI staining, and FISH (fluorescence in situ hybridization with 18S rDNA and telomeric probes. We found that S. aureatus Burgess, 1994 and S. pariolispos Isbrücker et Nijssen, 1989 shared the diploid number, 2n=52, but differed in their karyotypic formulae (KFs, distribution of constitutive heterochromatin (CH, and the localizations of their nucleolus organizer regions (NORs, which were found on the interstitial and distal regions of the long arm of chromosome pair 3 in S. aureatus and S. pariolispos respectively. We suggest that these interspecific variations may have arisen via paracentric inversion or transposition of the NOR. The karyotypic differences found between these two Scobinancistrus species can be used to identify them taxonomically, and may have functioned as a mechanism of post-zygotic reproductive isolation during the speciation process.

  10. Cytogenetic and molecular characteristics of 25 Chilean patients with a variant Ph translocation.

    Science.gov (United States)

    Legues, Maria E; Encina, Andrea; Valenzuela, Mercedes; Palma, Tamara; Undurraga, Maria S

    2011-07-01

    Chronic myeloid leukemia (CML) is characterized by the presence of the Philadelphia chromosome (Ph), which results from a balanced translocation between chromosomes 9 and 22, the t(9;22)(q34;q11.2). In 5-10% of the cases, variants of the Ph (vPh) are detected, involving various breakpoints in addition to 9q34 and 22q11.2. Deletions on the der(9) and der(22) can be detected in approximately 10-15% of CML patients. The frequency of a deletion of the der(9) in vPh CML is variable. Most studies have shown high frequencies (30-45%) in this subgroup. We report the cytogenetic evaluation of 25 vPh cases, which represents 6.8% of the CML cases diagnosed at one institution in 20 years. The breakpoints of the partners of the vPh in our patients agree with those reported previously, except for a novel 18q23. We found a low incidence of deletions of the der(9) (10%) and der(22) (5%) in these patients, contrasting with several reports in the literature. This finding may reflect the extensive spectrum of aberrations in vPh, and the possibility that a considerable group of these aberrations may not affect the genetic stability of 5'ABL1 and 3'BCR. Epidemiologic differences may also exist and could explain our results. These differences would require further investigation.

  11. Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome.

    Science.gov (United States)

    Nakagami, Yukako; Terada, Kiyohito; Ikeda, Hitoshi; Hiyoshi, Toshio; Inoue, Yushi

    2015-12-01

    Cri-du-chat syndrome (CdCs) is caused by deletion in the short arm of chromosome 5, occurring in 1:15,000 to 1:50,000 live births. Recent genotype-phenotype correlation studies show the importance of 5p15.2 for facial dysmorphism and intellectual disability, and 5p15.3 for cat-like cry. Numerous reports have shown the relative rarity of epilepsy in this syndrome. We identified two cases with epilepsy in CdCs, and described their electroclinical and cytogenetic features. The first case was a 25-year-old female who had axial tonic seizures with flexion of the neck and shoulders. Interictal EEG was characterized by generalized spike-and-slow-wave complexes. Her ictal EEG started with diffuse electrodecremental pattern, followed by alpha-range activities. High-resolution banding analysis of chromosomes revealed a terminal deletion of 5p14.1. The second case was a 30-year-old female who had startle epilepsy with falling. Interictal EEG demonstrated generalized spike and slow waves. High-resolution banding analysis revealed a terminal deletion of 5p13.3 with additional chromosomal material of unknown origin. Based on the cases presented here, as well as those previously reported, the relationship between epilepsy and CdCs is discussed. The data suggests that although CdCs patients rarely suffer from epileptic seizures, the seizures may vary in type.

  12. Cytogenetic Analysis of an SD Chromosome from a Natural Population of DROSOPHILA MELANOGASTER

    Science.gov (United States)

    Trippa, G.; Loverre, A.; Cicchetti, R.

    1980-01-01

    The discovery and the cytogenetic characterization of a new SD (Segregation Distorter) chromosome 2 from a natural population in Ranna (Sicily, Italy), SDRa, are reported. The main features of this chromosome are as follows: (a) it contains an SdRa gene with a moderate degree of segregation distortion (k = 0.72), (b) a recessive female sterile gene, fs(2)TLM, responsible for modifications of the morphology and structure of the tests and ovaries is located at 89.7, (c) SDRa/SDRa males and females are viable but sterile, the females due to homozygosis of fs(2)TLM and the males because of homozygosis of a region containing the Sd locus, and (d) SDi/SDj combinations are fertile, thus suggesting that the different Sd factors found in natural populations constitute a multiple allelic series.—These data may indicate that each population containing SD chromosomes has evolved its own genetic architecture for the complex SD system, with specific modifiers and perhaps different Sd genes. The possibility of reconstructing the evolutionary pattern of the SDRa chromosome in the natural Ranna population after the model of Charlesworth and Hartl (1978) and Crow (1979) is considered. PMID:17249043

  13. An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature.

    Science.gov (United States)

    Bertini, Veronica; Viola, David; Vitti, Paolo; Simi, Paolo; Valetto, Angelo

    2012-07-15

    We report on a 36-year-old infertile woman, presenting a premature ovarian failure with an otherwise normal female phenotype. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, that was characterized by FISH (fluorescent in situ hybridization) and array CGH (comparative genomic hybridization). This marker chromosome was derived from chromosome 15, and contained only heterochromatic material. The Prader Willi/Angelman region was not present. No duplications of the 15q regions were detected by array CGH. Supernumerary markers of chromosome 15 have been reported in cases of infertility and amenorrhea, that is also described in cases with marker derived by other acrocentric chromosomes. The case here presented constitutes a further example that etiology of POF is not always associated with a defective gene, but in some cases oocytes atresia can be the consequence of the abnormal meiotic pairing of chromosomes.

  14. Can cytogenetics explain the possible association between exposure to extreme low-frequency magnetic fields and Alzheimer's disease?

    Science.gov (United States)

    Maes, Annemarie; Verschaeve, Luc

    2012-02-01

    Recently, a number of epidemiological studies have suggested that occupational as well as residential exposure to extreme low-frequency electromagnetic fields (ELF-EMFs) may be a risk factor for Alzheimer's disease. This is not proven yet and there are no known biological mechanisms to explain this alleged association. Alzheimer's disease is characterized by a number of events that have, at least partially, a genetic origin. In particular, trisomy of chromosomes 17 and 21 seems to be involved. Overall ELF-EMFs have not been identified as genotoxic agents, but there are some papers in the scientific literature that indicate that they may enhance the effects of agents that are known to induce mutations or tumors. There are also some indications that ELF-EMFs may induce aneuploïdy. This opens some perspectives for investigating the alleged association between ELF-EMFs and Alzheimer's. This paper reviews the possibility of a cytogenetic association between the electromagnetic fields and Alzheimer's disease.

  15. FLT3 internal tandem duplication and FLT3-D835 mutation in 80 AML patients categorized into cytogenetic risk groups

    Directory of Open Access Journals (Sweden)

    Ewa Mały DEF

    2010-10-01

    Full Text Available Background:Acute myeloid leukemia (AML is a clonal disorder characterized by various genetic abnormalities and variable response to treatment. About 50�0of patients with AML have no cytogenetic aberrations, presenting normal karyotype, and are categorized in the intermediate risk group. In this group detection of FLT3 mutations move a patient from the intermediate to the adverse risk group.Material/Methods:Bone marrow from 80 AML patients was cultured to obtain chromosome slides and then karyotype. Simultaneously DNA was isolated from bone marrow and PCR reaction was conducted to test the FLT3 mutation status (ITD and D835. For statistical analysis Chi squared test was used.Results:From the group of 80 AML patients seven were classified as a favorable risk group and FLT3/ITD was found only in one of these patients (14.28� and FLT3/D835 in another one (14.28� Fifteen patients showed a complex karyotype with more than three aberrations or with any aberration known as a poor prognosis. Among the adverse group FLT3/ITD was detected in three patients (20�20and D835 mutation in two other patients (13.33� Among 58 patients with normal karyotype in GTG banding FLT3/ITD occurred in six cases (10.34�20and D835 mutation in two cases (3.45� No significant difference was found among these three risk groups regarding presence or absence of FLT3/ITD and FLT/D835.Discussion:Molecular characterization of mutations in several genes, such as FLT3, NPM1, MLL, CEBPA, in acute myeloid leukemia, especially in normal karyotype cases, could be another factor after cytogenetic analysis to stratify AML patients into different prognostic categories.

  16. Prenatal identification of i(Yp) by molecular cytogenetic analysis

    Energy Technology Data Exchange (ETDEWEB)

    Wang, B.T.; Peng, W.; Williams, J. III [Prenatal Diagnostic Center of Southern California Inc., Beverly Hills, CA (United States)] [and others

    1994-09-01

    An isochromosome derived from the short arm of the Y chromosome, i(Yp), is a rare marker chromosome. Its de novo presence prenatally represents a diagnostic dilemna since its impact on fetal development is difficult to predict. We present a case of 46,X,+i(Yp) de novo detected in an amniotic fluid specimen received for karyotype analysis. Fluorescence in situ hybridization (FISH) studies using a panel of Y-specific biotinylated DNA probes including a Y-centromere probe, a Y whole chromosome painting probe, and a lambda HAM2 probe containing 19 kb of AMG-Y sequence, located to Yp11.2, have identified the marker chromosome as i(Yp). The breakpoint on this marker chromosome is tentatively assigned to Yq11.1 which is close to the centromere. The present report illustrates the importance of FISH techniques as a complement to cytogenetic methods for accurate identification of chromosome rearrangements in prenatal diagnosis and genetic counseling.

  17. [Cytogenetic features of teenage girls with secondary amenorrhea].

    Science.gov (United States)

    Nachetova, T A; Nefidova, V E

    2014-11-01

    Some features of the chromosome apparatus status were studied in 25 adolescent girls, aged 14-18, with secondary amenorrhea and in 29 girls of the same age with a regular menstrual cycle. Materials for cytogenetic analysis were preparations of chromosomes at the stage of metaphase obtained from the culture of the peripheral blood lymphocytes. The technique of the culture preparation was carried out according to the standard method. 2225 metaphase plates were analyzed in girls with secondary amenorrhea, and 2603 plates were tested in their healthy age-mates. An increased total level of chromosomal aberrations and a rise in the frequency of disorders in the chromatid, chromosome and genome types of peripheral blood lymphocytes have been registered in the examined persons as compared with their healthy age-mates. We have shown, that polyploid cell registered in 15 times oftener in adolescent girls with SA as compared with healthy girls. It can be assumed that some marked changes in the frequency of chromosomal aberrations in patients with secondary amenorrhea and in their healthy age-mates may arise both as a result of exposure to the multiple environmental factors and disorders of rather complicated processes of DNA damages reparation.

  18. Recent experience in applying the cytogenetic dosimetry assay

    Energy Technology Data Exchange (ETDEWEB)

    Khvostunov, I.K., E-mail: 726727@mrrc.obninsk.ru [Medical Radiological Research Centre, Koroliov Str. 4, Obninsk, Kaluga Region, 249036 (Russian Federation); Sevan' kaev, A.V. [Medical Radiological Research Centre, Koroliov Str. 4, Obninsk, Kaluga Region, 249036 (Russian Federation); Lloyd, D.C. [Health Protection Agency, Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxfordshire (United Kingdom); Nugis, V.Yu. [Burnasyan Federal Medical Biophysical Center of the Federal Medical Biological Agency, Marshala Novikova Str., 23, Moscow (Russian Federation); Voisin, P. [Institute for Radiation Protection and Nuclear Safety, SRBE, B.P. 17, 92262 Fontenay-aux-Roses Cedex (France)

    2011-09-15

    This paper considers how well standard calibration curve for translocations constructed for lymphocyte cultures irradiated in vitro with gamma-rays from {sup 60}Co compares with the translocations yield in lymphocytes taken from people at a long post-exposure time. Data were used from radiation accident victims overexposed to doses ranging from 0.2 to 8.5 Gy and who were cytogenetically followed-up for various times upto 50 y. Their cultured lymphocytes had been scored both by the conventional dicentric method and by FISH for all translocations involving painted chromosomes (2, 3, 8); (2, 3, 5) or (2, 4, 12). The in vivo dose response relationship was derived by fitting translocation frequencies to the contemporary individual doses obtained independently and confirmed by different biological assays and physical dosimetry. A comparison with the conventional in vitro curve indicates reductions of translocation frequencies with increasing time which would prejudice retrospective dose assessment by FISH. This has led to the possibility to amend the in vitro dose response curve for translocations to make it more suitable for use in retrospective biodosimetry. This approach for retrospective biodosimetry therefore uses a dose response relationship based on truly persisting translocations.

  19. Cytogenetic Analysis of a Pseudoangiomatous Pleomorphic/Spindle Cell Lipoma.

    Science.gov (United States)

    Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild; Andersen, Hege Kilen; Bjerkehagen, Bodil; Heim, Sverre

    2017-05-01

    Pseudoangiomatous pleomorphic/spindle cell lipoma is a rare subtype of pleomorphic/spindle cell lipoma. Only approximately 20 such tumors have been described. Genetic information on pseudoangiomatous pleomorphic/spindle cell lipoma is restricted to a single case in which deletion of the forkhead box O1 (FOXO1) gene was found, using fluorescence in situ hybridization (FISH). G-banding and FISH analyses were performed on a pseudoangiomatous pleomorphic/spindle cell lipoma. G-banding of tumor cells showed complex karyotypic changes including loss of chromosome 13. FISH analysis revealed that the deleted region contained the RB1 gene (13q14.2) and the part of chromosome arm 13q (q14.2-q14.3) in which spans the TRIM13 gene, the two non-coding RNA genes, DLEU1 and DLEU2, and the genetic markers RH44686 and D13S25. Several acquired genomic aberrations were found in the tumor. Among them was loss of chromosome 13 material. Results confirm the (cyto)genetic similarity between pseudoangiomatous pleomorphic/spindle cell lipoma and spindle cell lipomas. Copyright© 2017, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

  20. Nanotechnology and molecular cytogenetics: the future has not yet arrived

    Directory of Open Access Journals (Sweden)

    Dimitris Ioannou

    2010-05-01

    Full Text Available Quantum dots (QDs are a novel class of inorganic fluorochromes composed of nanometer-scale crystals made of a semiconductor material. They are resistant to photo-bleaching, have narrow excitation and emission wavelengths that can be controlled by particle size and thus have the potential for multiplexing experiments. Given the remarkable optical properties that quantum dots possess, they have been proposed as an ideal material for use in molecular cytogenetics, specifically the technique of fluorescent in situ hybridisation (FISH. In this review, we provide an account of the current QD-FISH literature, and speculate as to why QDs are not yet optimised for FISH in their current form. Prof. Darren Griffin holds the chair in genetics at the University of Kent, Canterbury, UK. He is a graduate of the University of Manchester (BSc and DSc and University College London (PhD. He is a Fellow of the Royal College of Pathology and of the Society of Biology. He has published over 100 papers on aspects related to chromosome research and runs a busy research laboratory. Dimitris Ioannou is a final year PhD student in the laboratory of Professor Griffin. He is a graduate of the University of Wales (BSc and Nottingham (MPhil, and has performed original research work on applications of FISH including QD-FISH.

  1. Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

    Science.gov (United States)

    Karra, Vijay Kumar; Jindal, Ankur; Puppala, Madhavi; Singh, Pratiksha; Rawat, Kanchan; Kapoor, Seema

    2016-01-01

    Introduction Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. Aim The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. Materials and Methods Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner’s syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. Results Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. Conclusion We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling. PMID:27790464

  2. [Benefit of human gamete cytogenetics: results and perspectives].

    Science.gov (United States)

    Vialard, F; Pellestor, F

    2008-09-01

    In man, the incidence of reproductive failures is high and chromosomal abnormalities remains the major cause of pregnancy wastage. The advent of molecular cytogenetic techniques and assisted reproduction technology have brought forth new approaches for the chromosomal analysis of human oocytes and spermatozoa. The oocyte analyses have evidenced the high rate of chromosomal abnormalities in women and identified premature separation of sister chromatid as a major mechanism in aneuploidy occurrence. High frequencies of aneuploidy have been found in various groups of women, such as patients over 35 or 38 years old, patients with recurrent implantation failures or recurrent miscarriages. The polar body analysis has confirmed the major contribution of premature separation of sister chromatids in aneuploidies and the effect of maternal ageing on its occurrence. In spermatozoa, the efficient adaptation of in situ chromosomal detection techniques has facilitated the segregation analysis of chromosomal abnormalities. Despite the consensus observed in sperm studies of robertsonnian translocations and inversions, new data are required for accurate estimates of imbalances in various types of structural rearrangements. For infertile patients with normal karyotypes, there is significant increase in aneuploidy frequencies, which can be extremely elevated in some groups of subjects, such as patients with large headed spermatozoa syndrome.

  3. Cytogenetic characteristics of herbicide production workers in Ufa.

    Science.gov (United States)

    Kaioumova, D F; Khabutdinova, L Kh

    1998-01-01

    In the present study, we investigated the effect of dioxin-containing products on the cytogenetic characteristics of peripheral blood lymphocytes of herbicide plant workers in Ufa. We found that the mean incidence of cells with chromosomal abberations (CHA) was two fold higher in the herbicide plant workers than the mean incidence level of controls groups consisting of people with no professional contact to herbicides or hospital stuff working in the close vicinity of the herbicide plant in Ufa (for both cases: p < 0.05). Moreover, the mean CHA cell incidence in the controls groups was also two times higher than the average level of spontaneous abberations in humans. The chemical herbicides 2,4,5-trichlorphenol (2,4,5-T) and 2,4-dichlorophenoxiacetic acid (2,4-D) appeared to affect various cellular cycle phases. Chromosomal type abberations occurred in the G0 stage of cellular cycle and chromatic type aberrations in the G2 stage. In the S stage, the aberrations of both types were observed. Our results indicate that the herbicides 2,4,5-T and 2,4-D have mutagenic effects in humans.

  4. Quality aspects of prenatal cytogenetic diagnosis : Determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit; Suijkerbuijk, Ron; Bouman, Katelijne; de Jong, Bauke; Buys, Charles H. C. M.; Meerman, Gerard J. te

    Objectives To investigate the effect of factors involved in cell culturing and slide preparation of amniotic fluid (AF) and chorionic villus biopsies (CVB) for prenatal cytogenetic diagnosis. Methods The effect on the outcome of our standard AF cell culture procedure of volume and appearance of the

  5. Cancer predictive value of cytogenetic markers used in occupational health surveillance programs. A report from an ongoing study by the European Study Group on Cytogenetic Biomarkers and Health

    Energy Technology Data Exchange (ETDEWEB)

    Hagmar, Lars; Stroemberg, Ulf; Mikoczy, Zoli; Tinnerberg, Hakan; Skerfving, Staffan [Department of Occupational and Environmental Medicine, Lund University, S-221 85 Lund (Sweden); Bonassi, Stefano; Lando, Cecilia [Department of Environmental Epidemiology, Istituto Nazionale per la Ricerca sul Cancro, Viale Benedetto XV, I-1016132 Genoa (Italy); Hansteen, Inger-Lise [Department of Occupational Medicine, Telemark Central Hospital, N-3710 Skien (Norway); Montagud, Alicia Huici [Centro Nacional de Condiciones de Trabajo, Instituto Nacional de Seguridad e Higiene en el Trabajo, Dulcet 2-10, ES-08034 Barcelona (Spain); Knudsen, Lisbeth [National Institute of Occupational Health, Lersoe Parkalle 105, DK-2100 Copenhagen (Denmark); Norppa, Hannu [Finnish Institute of Occupational Health, Topeliuksekatu 41 aA, FIN-00250 Helsinki (Finland); Reuterwall, Christina [National Institute of Work Life, S-171 84 Solna (Sweden); Broegger, Anton [Norwegian Radium Hospital, Oslo (Norway); Forni, Alessandra [Istituto di Medicina del Lavoro Clinica del Lavoro `L. Devoto`, Milan (Italy); Hoegstedt, Benkt [Department of Occupational Medicine, Central Hospital, Halmstad (Sweden); Lambert, Bo [Department of Environmental Medicine, Centre for Nutrition and Toxicology, Karolinska Institute, Stockholm (Sweden); Mitelman, Felix [Department of Clinical Genetics, Lund University, Lund (Sweden); Nordenson, Ingrid [National Institute of Work Life, Umea (Sweden); Salomaa, Sisko [Finnish Center for Radiation and Nuclear Safety, Helsinki (Finland)

    1998-09-20

    The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serve as biomarkers for genotoxic effects which will result in an enhanced cancer risk. In order to assess this problem, Nordic and Italian cohorts were established, and preliminary results from these two studies indicated a predictive value of CA frequency for cancer risk, whereas no such associations were observed for SCE or MN. A collaborative study between the Nordic and Italian research groups, will enable a more thorough evaluation of the cancer predictivity of the cytogenetic endpoints. We here report on the establishment of a joint data base comprising 5271 subjects, examined 1965-1988 for at least one cytogenetic biomarker. Totally, 3540 subjects had been examined for CA, 2702 for SCE and 1496 for MN. These cohorts have been followed-up with respect to subsequent cancer mortality or cancer incidence, and the expected values have been calculated from rates derived from the general populations in each country. Stratified cohort analyses will be performed with respect to the levels of the cytogenetic biomarkers. The importance of potential effect modifiers such as gender, age at test, and time since test, will be evaluated using Poisson regression models. The remaining two potential effect modifiers, occupational exposures and smoking, will be assessed in a case-referent study within the study base

  6. Quality aspects of prenatal cytogenetic diagnosis : Determining the effect of various factors involved in handling amniotic fluid and chorionic villus material for cytogenetic diagnosis

    NARCIS (Netherlands)

    Sikkema-Raddatz, Birgit; Suijkerbuijk, Ron; Bouman, Katelijne; de Jong, Bauke; Buys, Charles H. C. M.; Meerman, Gerard J. te

    2006-01-01

    Objectives To investigate the effect of factors involved in cell culturing and slide preparation of amniotic fluid (AF) and chorionic villus biopsies (CVB) for prenatal cytogenetic diagnosis. Methods The effect on the outcome of our standard AF cell culture procedure of volume and appearance of the

  7. Development of genomic resources for the prairie vole (Microtus ochrogaster: construction of a BAC library and vole-mouse comparative cytogenetic map

    Directory of Open Access Journals (Sweden)

    Young Larry J

    2010-01-01

    Full Text Available Abstract Background The prairie vole (Microtus ochrogaster is a premier animal model for understanding the genetic and neurological basis of social behaviors. Unlike other biomedical models, prairie voles display a rich repertoire of social behaviors including the formation of long-term pair bonds and biparental care. However, due to a lack of genomic resources for this species, studies have been limited to a handful of candidate genes. To provide a substrate for future development of genomic resources for this unique model organism, we report the construction and characterization of a bacterial artificial chromosome (BAC library from a single male prairie vole and a prairie vole-mouse (Mus musculus comparative cytogenetic map. Results We constructed a prairie vole BAC library (CHORI-232 consisting of 194,267 recombinant clones with an average insert size of 139 kb. Hybridization-based screening of the gridded library at 19 loci established that the library has an average depth of coverage of ~10×. To obtain a small-scale sampling of the prairie vole genome, we generated 3884 BAC end-sequences totaling ~2.8 Mb. One-third of these BAC-end sequences could be mapped to unique locations in the mouse genome, thereby anchoring 1003 prairie vole BAC clones to an orthologous position in the mouse genome. Fluorescence in situ hybridization (FISH mapping of 62 prairie vole clones with BAC-end sequences mapping to orthologous positions in the mouse genome was used to develop a first-generation genome-wide prairie vole-mouse comparative cytogenetic map. While conserved synteny was observed between this pair of rodent genomes, rearrangements between the prairie vole and mouse genomes were detected, including a minimum of five inversions and 16 inter-chromosomal rearrangements. Conclusions The construction of the prairie vole BAC library and the vole-mouse comparative cytogenetic map represent the first genome-wide modern genomic resources developed for this

  8. Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran

    Directory of Open Access Journals (Sweden)

    Najmeh Jouyan

    2012-01-01

    Full Text Available Background: Chromosome abnormality (CA including Sex chromosomes abnormality (SCAs is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study. Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS. Results: Out of 230 (5.54% cases with chromosomally abnormal karyotype, 122 (30% cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively. Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.

  9. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.

    Science.gov (United States)

    Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma; Rajab, Anna

    2016-02-01

    The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman.

  10. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

    Energy Technology Data Exchange (ETDEWEB)

    Shaffer, L.G.; Kennedy, G.M.; Spikes, A.S. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1997-03-31

    Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb region in 17p12 containing the PMP22 gene. The reciprocal product of the CMT1A duplication is a 1.5-Mb deletion which causes hereditary neuropathy with liability to pressure palsies (HNPP). The most informative current diagnostic testing requires pulsed-field gel electrophoresis to detect DNA rearrangement-specific junction fragments. We investigated the use of interphase FISH for the detection of duplications and deletions for these disorders in the clinical molecular cytogenetics laboratory. Established cell lines or blood specimens from 23 individuals with known molecular diagnoses and 10 controls were obtained and scored using a two-color FISH assay. At least 70%, of CMT1A cells displayed three signals consistent with duplications. Using this minimum expected percentile to make a CMT1A duplication diagnosis, all patients with CMT1A showed a range of 71-92% of cells displaying at least three signals. Of the HNPP cases, 88% of cells displayed only one hybridization signal, consistent with deletions. The PMP22 locus from normal control individuals displayed a duplication pattern in {approximately}9% of cells, interpreted as replication of this locus. The percentage of cells showing replication was significantly lower than in those cells displaying true duplications. We conclude that FISH can be reliably used to diagnose CMT1A and HNPP in the clinical cytogenetics laboratory and to readily distinguish the DNA rearrangements associated with these disorders from individuals without duplication or deletion of the PMP22 locus. 43 refs., 4 figs., 2 tabs.

  11. Clinico-pathological impact of cytogenetic subgroups in B-cell chronic lymphocytic leukemia: Experience from India

    Directory of Open Access Journals (Sweden)

    PS Kadam Amare

    2013-01-01

    Full Text Available Background: The present study of 238 B-cell Chronic Lymphocytic Leukemia (B-CLL patients were undertaken to seek the prevalence and to evaluate clinico-pathological significance of recurrent genetic abnormalities such as del(13q14.3, trisomy 12, del(11q22.3 (ATM, TP53 deletion, del(6q21 and IgH translocation/deletion. Materials and Methods: We applied interphase - fluorescence in situ hybridization (FISH on total 238 cases of B-CLL. Results: Our study disclosed 69% of patients with genetic aberrations such as 13q deletion (63%, trisomy 12 (28%, 11q deletion (18%, 6q21 deletion (11% with comparatively higher frequency of TP53 deletion (22%. Deletion 13q displayed as a most frequent sole abnormality. In group with coexistence of ≥2 aberrations, 13q deletion was a major clone indicating del(13q as a primary event followed by 11q deletion, TP53 deletion, trisomy 12, 6q deletion as secondary progressive events. In comparison with del(13q, trisomy 12, group with coexistence of ≥2 aberrations associated with poor risk factors such as hyperleukocytosis, advanced stage, and multiple nodes involvement. In a separate study of 116 patients, analysis of IgH abnormalities revealed either partial deletion (24% or translocation (5% and were associated with del(13q, trisomy 12, TP53 and ATM deletion. Two of 7 cases had t(14;18, one case had t(8;14, and four cases had other variant IgH translocation t(?;14. Conclusion: Detail characterization and clinical impact are necessary to ensure that IgH translocation positive CLL is a distinct pathological entity. Our data suggests that CLL with various cytogenetic subsets, group with coexistence of ≥2 aberrations seems to be a complex cytogenetic subset, needs more attention to understand biological significance and to seek clinical impact for better management of disease.

  12. Development, genetic and cytogenetic analyses of genetic sexing strains of the Mexican fruit fly, Anastrepha ludens Loew (Diptera: Tephritidae).

    Science.gov (United States)

    Zepeda-Cisneros, Cristina Silvia; Meza Hernández, José Salvador; García-Martínez, Víctor; Ibañez-Palacios, Jorge; Zacharopoulou, Antigone; Franz, Gerald

    2014-01-01

    Anastrepha ludens is among the pests that have a major impact on México's economy because it attacks fruits as citrus and mangoes. The Mexican Federal government uses integrated pest management to control A. ludens through the Programa Nacional Moscas de la Fruta [National Fruit Fly Program, SAGARPA-SENASICA]. One of the main components of this program is the sterile insect technique (SIT), which is used to control field populations of the pest by releasing sterile flies. To increase the efficiency of this technique, we have developed a genetic sexing strain (GSS) in which the sexing mechanism is based on a pupal colour dimorphism (brown-black) and is the result of a reciprocal translocation between the Y chromosome and the autosome bearing the black pupae (bp) locus. Ten strains producing wild-type (brown pupae) males and mutant (black pupae) females were isolated. Subsequent evaluations for several generations were performed in most of these strains. The translocation strain named Tapachula-7 showed minimal effect on survival and the best genetic stability of all ten strains. Genetic and cytogenetic analyses were performed using mitotic and polytene chromosomes and we succeeded to characterize the chromosomal structure of this reciprocal translocation and map the autosome breakpoint, despite the fact that the Y chromosome is not visible in polytene nuclei following standard staining. We show that mitotic and polytene chromosomes can be used in cytogenetic analyses towards the development of genetic control methods in this pest species. The present work is the first report of the construction of GSS of Anastrepha ludens, with potential use in a future Moscafrut operational program.

  13. Statistical methods in interphase cytogenetics: an experimental approach.

    Science.gov (United States)

    Kibbelaar, R E; Kok, F; Dreef, E J; Kleiverda, J K; Cornelisse, C J; Raap, A K; Kluin, P M

    1993-10-01

    In situ hybridization (ISH) techniques on interphase cells, or interphase cytogenetics, have powerful potential clinical and biological applications, such as detection of minimal residual disease, early relapse, and the study of clonal evolution and expansion in neoplasia. Much attention has been paid to issues related to ISH data acquisition, i.e., the numbers, colors, intensities, and spatial relationships of hybridization signals. The methodology concerning data analysis, which is of prime importance for clinical applications, however, is less well investigated. We have studied the latter for the detection of small monosomic and trisomic cell populations using various mixtures of human female and male cells. With a chromosome X specific probe, the male cells stimulated monosomic subpopulations of 0, 1, 5, 10, 50, 90, 95, 99, and 100%. Analogously, when a (7 + Y) specific probe combination was used, containing a mixture of chromosome No. 7 and Y-specific DNA, the male cells simulated trisomic cell populations. Probes specific for chromosomes Nos. 1, 7, 8, and 9 were used for estimation of ISH artifacts. Three statistical tests, the Kolmogorov-Smirnov test, the multiple-proportion test, and the z'-max test, were applied to the empirical data using the control data as a reference for ISH artifacts. The Kolmogorov-Smirnov test was found to be inferior for discrimination of small monosomic or trisomic cell populations. The other two tests showed that when 400 cells were evaluated, and using selected control probes, monosomy X could be detected at a frequency of 5% aberrant cells, and trisomy 7 + Y at a frequency of 1%.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. Cytogenetic study of down syndrome in Algeria: Report and review

    Directory of Open Access Journals (Sweden)

    Fayza Belmokhtar

    2016-01-01

    Full Text Available Background: Down syndrome (DS is the most common type of chromosomal trisomy found in newborn. It is associated with mental retardation and characteristic facial features. A clinical diagnosis of DS may be unconfirmed in one-third of cases. Objective: This study was conducted to confirm the clinical diagnosis of suspected cases with DS by a cytogenetic analysis and to evaluate several risk factors associated with trisomy 21 in a group of patients from West region of Algeria, Tlemcen. Materials and Methods: Karyotype analysis was carried out for 22 patients with the clinical diagnosis of DS. GTG-band and RTG-band have been made according to the standard protocols. Results: Among the 22 cases with DS, free trisomy 21 was presented in 20 cases (91%. One case (4.5% had translocation DS. One other case had mosaic DS. There was an excess of male than female; sex ratio was 1.75:1. The mean maternal age at birth of the affected children was 36.27 ± 7.59 years. It was significantly higher than this of mothers of nontrisomic children (27.83 ± 6.34 years; P = 0.0002. Higher parity was an important risk factor associated with trisomy 21, 81% of affected children were of last or second last birth order. Paternal age and consanguinity had no effect. Conclusion: The identification of specific types of chromosomal abnormalities in DS children is very significant. It greatly helped in the management of these children and to make aware the affected families about the recurrence risk and the options available.

  15. Cytogenetic analysis of the pathology of frozen shoulder

    Directory of Open Access Journals (Sweden)

    Kabbabe Benjamin

    2010-01-01

    Full Text Available Background : Frozen shoulder (FS is a debilitating musculoskeletal condition with an uncertain etiology and pathogenic mechanism. The aim of this study was to investigate the hypothesis that an alteration in the level of cytokines may disrupt the normal inflammatory and tissue healing process in the shoulder, leading to the development of FS. Materials and Methods: A prospective case-control study was undertaken, analyzing patients undergoing arthroscopic treatment of FS and control patients being treated for subacromial bursitis. Synovial biopsies were taken from all subjects. Synovial RNA levels were analyzed using quantitative polymerase chain reaction (qPCR. Results : Thirteen patients with FS were recruited, four of whom were diagnosed with diabetes mellitus, along with 10 control patients. Cytogenetic analysis using qPCR revealed both fibrogenic cytokine matrix metalloproteinase 3 (MMP 3 (1.98Χ10 5 vs. 755.0, P=0.068 and inflammatory cytokine interleukin 6 (IL 6 (1679.2 vs. 372.8, P=0.062 to be elevated in FS cases as compared to controls. Comparison between diabetic and non-diabetic patients revealed a decrease in the level of expression of inflammatory cytokine, monocyte colony stimulating factor (M-CSF (12,496 vs. 305.1, P=0.04 in diabetic FS patients. Conclusions: The results demonstrate that levels of inflammatory and fibrogenic cytokines are elevated in the synovium of patients with FS compared with controls. This indicates that altered levels of inflammatory cytokines may be associated with the pathogenesis of inflammation evolving into fibrosis, which is the characteristic feature of FS. We have also shown the opposite to be the case in patients with diabetic FS.

  16. Comparison of cytogenetic abnormalities and deoxyribonucleic acid ploidy of benign, borderline malignant, and different grades of malignant soft tissue tumors.

    NARCIS (Netherlands)

    van den Berg, Eva; Oven, M W Van; de Jong, Bauke; Dam, Anke; Wiersema, J; Dijkhuizen, T; Hoekstra, H J; Molenaar, W M

    1994-01-01

    BACKGROUND: Both DNA flow cytometry and cytogenetic analysis have been used to study soft tissue tumors. With flow cytometry, the DNA content of a relatively large number of cells can be examined, but cytogenetic analysis gives more detailed information about genomic changes. EXPERIMENTAL DESIGN: In

  17. [Cytogenetic testing in evaluation of the ecological situation and the effect of natural adaptogens on children and adult health].

    Science.gov (United States)

    Gorovaia, A I; Klimkina, I I

    2002-01-01

    The use of cytogenetic testing on the micronuclear test in cells of the population of children is substantiated for the estimation of mutagenicity of the territory on which they live. The positive modifying cytogenetic influence of natural adaptogens on improvement of health of organisms injured by adverse factors is established.

  18. Cytogenetics and genetics of human cancer: methods and accomplishments.

    Science.gov (United States)

    Sandberg, Avery A; Meloni-Ehrig, Aurelia M

    2010-12-01

    Cytogenetic and related changes in human cancer constitute part of a constantly developing and enlarging continuum of known genetic alterations associated with cancer development and biology. The cytogenetic component of this continuum has fulfilled much of its pioneering role and now constitutes a small but dynamic segment of the vast literature on cancer genetics, in which it has played an important if not initiating role. The goals of this article are (a) to address historical and methodological aspects of cancer cytogenetics; (b) to present information on diagnostic translocations in leukemias, lymphomas, bone and soft tissue tumors, and carcinomas; (c) to connect some of these chromosomal aberrations with their molecular equivalents; and (d) to describe anomalies in some solid tumors indicative of the complexity of the genomic alterations in cancer. We also look at a few of the more recent genomic developments in cancer and offer an opinion as to what all these findings add up to.

  19. Cytogenetic findings of patients with acute lymphoblastic leukemia in fars province.

    Science.gov (United States)

    Safaei, Akbar; Shahryari, Jahanbanoo; Farzaneh, Mohamad Reza; Tabibi, Narjes; Hosseini, Marzieh

    2013-12-01

    Acute lymphoblastic leukemia (ALL) is the sixth most common malignancy in Iran. Cytogenetic analysis of leukemic blasts plays an important role in classification and prognosis in ALL patients. The purpose of this study was to define the frequency of chromosomal abnormalities of ALL patients in adults and children in Fars province, Iran. In this cross-sectional study, we evaluated karyotype results of bone marrow specimens in 168 Iranian patients with ALL (154 B-ALL and 14 T-ALL) in Fars Province using the conventional cytogenetic G-banding method. The frequency of cytogenetic abnormalities, including numerical and/or structural changes, was 61.7% and 53.8% in the B-ALL and T-ALL patients, respectively. Hyperdiploidy was the most common (32%) cytogenetic abnormality. Among structural abnormalities, the most common was t(9;22) in 11% of the patients. The children showed a higher incidence of hyperdiploidy and lower incidence of t(9;22) than adults (P<0.05). We found a lower incidence of recurrent abnormalities such as 11q23, t(1;19), and t(12;21) than those reported in previous studies. Normal karyotype was more frequent in our study. The frequencies of some cytogenetic abnormalities such as hyperdiploidy and t(9;22) in our study were comparable to those reported in the literature. The results of this study in Fars Province can be used as baseline information for treatment decision and research purposes in ALL patients. We recommend the use of advanced molecular techniques in the future to better elucidate cryptic cytogenetic abnormalities.

  20. Cytogenetic Findings of Patients with Acute Lymphoblastic Leukemia in Fars Province

    Directory of Open Access Journals (Sweden)

    Akbar Safaei

    2013-12-01

    Full Text Available Background: Acute lymphoblastic leukemia (ALL is the sixth most common malignancy in Iran. Cytogenetic analysis of leukemic blasts plays an important role in classification and prognosis in ALL patients. The purpose of this study was to define the frequency of chromosomal abnormalities of ALL patients in adults and children in Fars province, Iran. Methods: In this cross-sectional study, we evaluated karyotype results of bone marrow specimens in 168 Iranian patients with ALL (154 B-ALL and 14 T-ALL in Fars Province using the conventional cytogenetic G-banding method. Results: The frequency of cytogenetic abnormalities, including numerical and/or structural changes, was 61.7% and 53.8% in the B-ALL and T-ALL patients, respectively. Hyperdiploidy was the most common (32% cytogenetic abnormality. Among structural abnormalities, the most common was t(9;22 in 11% of the patients. The children showed a higher incidence of hyperdiploidy and lower incidence of t(9;22 than adults (P<0.05. We found a lower incidence of recurrent abnormalities such as 11q23, t(1;19, and t(12;21 than those reported in previous studies. Conclusion: Normal karyotype was more frequent in our study. The frequencies of some cytogenetic abnormalities such as hyperdiploidy and t(9;22 in our study were comparable to those reported in the literature. The results of this study in Fars Province can be used as baseline information for treatment decision and research purposes in ALL patients. We recommend the use of advanced molecular techniques in the future to better elucidate cryptic cytogenetic abnormalities.

  1. The Bactrocera dorsalis species complex: comparative cytogenetic analysis in support of Sterile Insect Technique applications.

    Science.gov (United States)

    Augustinos, Antonios A; Drosopoulou, Elena; Gariou-Papalexiou, Aggeliki; Bourtzis, Kostas; Mavragani-Tsipidou, Penelope; Zacharopoulou, Antigone

    2014-01-01

    The Bactrocera dorsalis species complex currently harbors approximately 90 different members. The species complex has undergone many revisions in the past decades, and there is still an ongoing debate about the species limits. The availability of a variety of tools and approaches, such as molecular-genomic and cytogenetic analyses, are expected to shed light on the rather complicated issues of species complexes and incipient speciation. The clarification of genetic relationships among the different members of this complex is a prerequisite for the rational application of sterile insect technique (SIT) approaches for population control. Colonies established in the Insect Pest Control Laboratory (IPCL) (Seibersdorf, Vienna), representing five of the main economic important members of the Bactrocera dorsalis complex were cytologically characterized. The taxa under study were B. dorsalis s.s., B. philippinensis, B. papayae, B. invadens and B. carambolae. Mitotic and polytene chromosome analyses did not reveal any chromosomal characteristics that could be used to distinguish between the investigated members of the B. dorsalis complex. Therefore, their polytene chromosomes can be regarded as homosequential with the reference maps of B. dorsalis s.s.. In situ hybridization of six genes further supported the proposed homosequentiallity of the chromosomes of these specific members of the complex. The present analysis supports that the polytene chromosomes of the five taxa under study are homosequential. Therefore, the use of the available polytene chromosome maps for B. dorsalis s.s. as reference maps for all these five biological entities is proposed. Present data provide important insight in the genetic relationships among the different members of the B. dorsalis complex, and, along with other studies in the field, can facilitate SIT applications targeting this complex. Moreover, the availability of 'universal' reference polytene chromosome maps for members of the complex

  2. A 1.7-Mb YAC contig around the human BDNF gene (11p13): integration of the physical, genetic, and cytogenetic maps in relation to WAGR syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Rosier, M.F.; Martin, A.; Houlgatte, R. [Genetique Moleculaire et Biologie du Development, Villejuif (France)] [and others

    1994-11-01

    WAGR (Wilms tumor, aniridia, genito-urinary abnormalities, mental retardation) syndrome in humans is associated with deletions of the 11p13 region. The brain-derived neurotrophic factor (BDNF) gene maps to this region, and its deletion seems to contribute to the severity of the patient`s mental retardation. Yeast artificial chromosomes (YACs) carrying the BDNF gene have been isolated and characterized. Localization of two known exons of this gene leads to a minimal estimation of its size of about 40 kb. Chimerism of the BDNF YACs has been investigated by fluorescence in situ hybridization and chromosome assignment on somatic cell hybrids. Using the BDNF gene, YAC end sequence tagged sites (STS), and Genethon microsatellite markers, the authors constructed a 1.7-Mb contig and refined the cytogenetic map at 11p13. The resulting integrated physical, genetic, and cytogenetic map constitutes a resource for the characterization of genes that may be involved in the WAGR syndrome. 42 refs., 2 figs., 3 tabs.

  3. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

    Directory of Open Access Journals (Sweden)

    E.D.R.P. Velloso

    2013-01-01

    Full Text Available Myelodysplastic syndromes (MDS and juvenile myelomonocytic leukemia (JMML are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED. We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome. Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

  4. A Semi-Closed Device for Chromosome Spreading for Cytogenetic Analysis

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Mednova, Olga; Vedarethinam, Indumathi;

    2014-01-01

    Metaphase chromosome spreading is the most crucial step required for successful karyotyping and FISH analysis. These two techniques are routinely used in cytogenetics to assess the chromosome abnormalities. The spreading process has been studied for years but it is still considered an art more than......, and thus allow for better quality spreads. Further cytogenetic analysis depends on the quality of the spreads, which is dependent on the skills of the personnel and is thus limited to laboratory settings. Here, we present a semi-closed microfluidic chip for preparation of the metaphase spreads on a glass...

  5. Comparative genomic hybridization: technical development and cytogenetic aspects for routine use in clinical laboratories.

    Science.gov (United States)

    Lapierre, J M; Cacheux, V; Da Silva, F; Collot, N; Hervy, N; Wiss, J; Tachdjian, G

    1998-01-01

    Comparative genomic hybridization (CGH) offers a new global approach for detection of chromosomal material imbalances of the entire genome in a single experiment without cell culture. In this paper, we discuss the technical development and the cytogenetic aspects of CGH in a clinical laboratory. Based only on the visual inspection of CGH metaphase spreads, the correct identification of numerical and structural anomalies are reported. No commercial image analysis software was required in these experiments. We have demonstrated that this new technology can be set up easily for routine use in a clinical cytogenetics laboratory.

  6. New cytogenetic data for some Palaearctic species of scale insects (Homoptera, Coccinea with karyosystematic notes

    Directory of Open Access Journals (Sweden)

    Ilya Gavrilov-Zimin

    2011-12-01

    Full Text Available New cytogenetic data are reported for 17 species from 15 genera of the families Pseudococcidae, Eriococcidae, Kermesidae, and Coccidae. Twelve species and 6 genera (Peliococcopsis Borchsenius, 1948, Heterococcopsis Borchsenius, 1948, Heliococcus Šulc, 1912, Trabutina Marchal, 1904, Lecanopsis Targioni Tozzetti, 1868, and Anapulvinaria Borchsenius, 1952 were studied cytogenetically for the first time. The taxonomic problems in the genera Trionymus Berg, 1899, Acanthopulvinaria Borchsenius, 1952 and Rhizopulvinaria Borchsenius, 1952 are discussed based on karyotype characters. Two chromosomal forms (cryptic species of Acanthopulvinaria orientalis (Nasonov, 1908, 2n=18 and 2n=16 were discovered.

  7. Molecular cytogenetics and comparative mapping in goats (Capra hircus, 2n = 60).

    Science.gov (United States)

    Schibler, L; Di Meo, G P; Cribiu, E P; Iannuzzi, L

    2009-01-01

    Few goat genome analysis projects have been developed in the last 10 years. The aim of this review was to compile and update all available cytogenetic mapping data, according to the last goat chromosome nomenclature, as well as human and cattle whole genome sequences. In particular, human regions homologous to most of the FISH-mapped microsatellites were identified in silico. This new goat cytogenetic map made it possible to refine delineation of conserved segments relative to the human and cattle genomic sequence. These improvements did not lead to detection of major new rearrangements within ruminants but confirmed the good conservation of synteny and the numerous intrachromosomal rearrangements observed between goats and humans.

  8. In situ hybridization (ISH) in a cytogenetic; Hybrydyzacja in situ w genetyce

    Energy Technology Data Exchange (ETDEWEB)

    Zawada, M. [Polska Akademia Nauk, Poznan (Poland). Zaklad Genetyki Czlowieka; Latos-Bielenska, A. [Akademia Medyczna, Poznan (Poland)

    1993-12-31

    Nucleic acids contain genetic information for structure and function of cell organism. The information bearing sequences of DNA, know as genes, are spread along DNA molecule. ISH is one of the best and the most-direct techniques available for studies on gene localization, structure and expression. It combines technical achievements of molecular biology and cytogenetic. Application of ISH provides an opportunity to visualize specific DNA or RNA sequences in preparations of chromosomes, cells or tissue sections. It has been used widely both in research (genes mapping and expression, genome evolution, nuclear topography, mitosis, meiosis) as well as in clinical studies (clinical cytogenetic, prenatal diagnostics, cancer diagnostics). (author). 46 refs.

  9. Impact of cytogenetics on outcome of de novo and therapy-related AML and MDS after allogeneic transplantation.

    Science.gov (United States)

    Armand, Philippe; Kim, Haesook T; DeAngelo, Daniel J; Ho, Vincent T; Cutler, Corey S; Stone, Richard M; Ritz, Jerome; Alyea, Edwin P; Antin, Joseph H; Soiffer, Robert J

    2007-06-01

    Cytogenetics has an important impact on the prognosis of patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) for acute myelogenous leukemia (AML) or myelodysplastic syndromes (MDS). However, it is unclear whether currently accepted cytogenetic risk groups, which were established for patients treated mostly with standard therapy, are optimally discriminating for patients undergoing HSCT. Also, the impact of cytogenetics in the growing population of patients with therapy-related disease has not been completely elucidated. In this study, we retrospectively analyzed data on 556 patients with AML or MDS transplanted at our institution. We examined, in multivariate analyses, the contribution of cytogenetics to survival, relapse, and nonrelapse mortality for the 476 patients with de novo disease. We used these results to establish an optimal cytogenetic grouping scheme. We then applied this grouping scheme to the 80 patients with therapy-related disease. Our proposed 3-group cytogenetic classification outperformed the established grouping schemes for both de novo and therapy-related disease. When classified by this new scheme, cytogenetics was the strongest prognostic factor for overall survival in our cohort, through its impact on the risk of relapse (and not on nonrelapse mortality). After accounting for cytogenetics, patients with therapy-related AML or MDS had an equivalent outcome to those with de novo disease. This study demonstrates the impact of cytogenetics on the risk of relapse and death for patients with both de novo and therapy-related disease undergoing transplantation; it also emphasizes the necessity of using cytogenetics to stratify patients entering clinical trials, and provides a system for doing so, which can be validated in a multi-institutional database.

  10. Double-hit lymphomas: clinical, morphological, immunohistochemical and cytogenetic study in a series of Brazilian patients with high-grade non-Hodgkin lymphoma.

    Science.gov (United States)

    Oliveira, Cristiano Claudino; Maciel-Guerra, Helena; Kucko, Luan; Hirama, Eric Jun; Brilhante, Américo Delgado; Quevedo, Francisco Carlos; da Cunha, Isabela Werneck; Soares, Fernando Augusto; Niero-Melo, Ligia; Dos Reis, Patrícia Pintor; Domingues, Maria Aparecida Custodio

    2017-01-07

    Double-hit lymphomas (DHL) are rare high-grade neoplasms characterized by two translocations: one involving the gene MYC and another involving genes BCL2 or BCL6, whose diagnosis depends on cytogenetic examination. This research studied DHL and morphological and/or immunophenotypic factors associated with the detection of these translocations in a group of high-grade non-Hodgkin lymphoma cases. Clinical and morphological reviews of 120 cases diagnosed with diffuse large B-cell lymphoma and Burkitt lymphoma were conducted. Immunohistochemistry (CD20, CD79a, PAX5, CD10, Bcl6, Bcl2, MUM1, TDT and Myc) and fluorescence in situ hybridization for detection of MYC, BCL2 and BCL6 gene translocations were performed in a tissue microarray platform. Three cases of DHL were detected: two with translocations of MYC and BCL2 and one with translocations of MYC and BCL6, all leading to death in less than six months. Among 90 cytogenetically evaluable biopsies, associations were determined between immunohistochemistry and fluorescence in situ hybridization for MYC (p = 0.036) and BCL2 (p = 0.001). However, these showed only regular agreement, indicated by Kappa values of 0.23 [0.0;0.49] and 0.35 [0.13;0.56], respectively. "Starry sky" morphology was strongly associated with MYC positivity (p = 0.01). The detection of three cases of DHL, all resulting in death, confirms the rarity and aggressiveness of this neoplasm. The "starry sky" morphological pattern and immunohistochemical expression of Myc and Bcl2 represent possible selection factors for additional cytogenetic diagnostic testing.

  11. Chronic myeloid leukemia and interferon-alpha : a study of complete cytogenetic responders

    NARCIS (Netherlands)

    Bonifazi, F; de Vivo, A; Rosti, G; Guilhot, F; Guilhot, J; Trabacchi, E; Hehlmann, R; Hochhaus, A; Shepherd, PCA; Steegmann, JL; Kluin-Nelemans, HC; Thaler, J; Simonsson, B; Louwagie, A; Reiffers, J; Mahon, FX; Montefusco, E; Alimena, G; Hasford, J; Richards, S; Saglio, G; Testoni, N; Martinelli, G; Tura, S; Baccarani, M

    2001-01-01

    Achieving a complete cytogenetic response (CCgR) is a major target in the treatment of chronic myeloid leukemia (CIVIL) with interferon-alpha (IFN-alpha), but CCgRs are rare. The mean CCgR rate is 13%, in a range of 5% to 33%. A collaborative study of 9 European Union countries has led to the

  12. Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla

    OpenAIRE

    Stanyon, Roscoe; Wienberg, Johannes; Romagno, D.; Bigoni, F.; Jauch, Anna; Cremer, Thomas

    1992-01-01

    The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined with high-resolution banding, replication sequence analysis, and fluorochrome staining to demonstrate that a reciprocal translocation between ancestral chromosomes homologous to human chromosome 5 and 17 has indeed occurred.

  13. Cytogenetic comparisons of synchronous carcinomas and polyps in patients with colorectal cancer

    DEFF Research Database (Denmark)

    Bardi, G; Parada, L A; Bomme, L;

    1997-01-01

    Thirty tumorous lesions from seven patients with colorectal cancer were short-term cultured and cytogenetically analysed: 16 non-adenomatous polyps, six adenomas, seven carcinomas, including one in polyp, and one lymph node metastasis. Clonal chromosome aberrations were found in 20 samples in 100...

  14. Inferring Diversity and Evolution in Fish by Means of Integrative Molecular Cytogenetics.

    Science.gov (United States)

    Artoni, Roberto Ferreira; Castro, Jonathan Pena; Jacobina, Uedson Pereira; Lima-Filho, Paulo Augusto; da Costa, Gideão Wagner Werneck Félix; Molina, Wagner Franco

    2015-01-01

    Fish constitute a paraphyletic and profusely diversified group that has historically puzzled ichthyologists. Hard efforts are necessary to better understand this group, due to its extensive diversity. New species are often identified and it leads to questions about their phylogenetic aspects. Cytogenetics is becoming an important biodiversity-detection tool also used to measure biodiversity evolutionary aspects. Molecular cytogenetics by fluorescence in situ hybridization (FISH) allowed integrating quantitative and qualitative data from DNA sequences and their physical location in chromosomes and genomes. Although there is no intention on presenting a broader review, the current study presents some evidences on the need of integrating molecular cytogenetic data to other evolutionary biology tools to more precisely infer cryptic species detection, population structuring in marine environments, intra- and interspecific karyoevolutionary aspects of freshwater groups, evolutionary dynamics of marine fish chromosomes, and the origin and differentiation of sexual and B chromosomes. The new cytogenetic field, called cytogenomics, is spreading due to its capacity to give resolute answers to countless questions that cannot be answered by traditional methodologies. Indeed, the association between chromosomal markers and DNA sequencing as well as between biological diversity analysis methodologies and phylogenetics triggers the will to search for answers about fish evolutionary, taxonomic, and structural features.

  15. Gene expression profiles of human glioblastomas are associated with both tumor cytogenetics and histopathology.

    Science.gov (United States)

    Vital, Ana Luísa; Tabernero, Maria Dolores; Castrillo, Abel; Rebelo, Olinda; Tão, Hermínio; Gomes, Fernando; Nieto, Ana Belen; Resende Oliveira, Catarina; Lopes, Maria Celeste; Orfao, Alberto

    2010-09-01

    Despite the increasing knowledge about the genetic alterations and molecular pathways involved in gliomas, few studies have investigated the association between the gene expression profiles (GEP) and both cytogenetics and histopathology of gliomas. Here, we analyzed the GEP (U133Plus2.0 chip) of 40 gliomas (35 astrocytic tumors, 3 oligodendrogliomas, and 2 mixed tumors) and their association with tumor cytogenetics and histopathology. Unsupervised and supervised analyses showed significantly different GEP in low- vs high-grade gliomas, the most discriminating genes including genes involved in the regulation of cell proliferation, apoptosis, DNA repair, and signal transduction. In turn, among glioblastoma multiforme (GBM), 3 subgroups of tumors were identified according to their GEP, which were closely associated with the cytogenetic profile of their ancestral tumor cell clones: (i) EGFR amplification, (ii) isolated trisomy 7, and (iii) more complex karyotypes. In summary, our results show a clear association between the GEP of gliomas and tumor histopathology; additionally, among grade IV astrocytoma, GEP are significantly associated with the cytogenetic profile of the ancestral tumor cell clone. Further studies in larger series of patients are necessary to confirm our observations.

  16. Molecular cytogenetics in solid tumors: laboratorial tool for diagnosis, prognosis, and therapy.

    Science.gov (United States)

    Varella-Garcia, Marileila

    2003-01-01

    The remarkable progress in the understanding of leukemogenesis was soundly sustained by methodological developments in the cytogenetic field. Nonrandom chromosomal abnormalities frequently associated with specific types of hematological disease play a major role in their diagnosis and have been demonstrated as independent prognostic indicators. Molecular pathways altered by chimeric or deregulated proteins as a consequence of chromosomal abnormalities have also significantly contributed to the development of targeted therapies, and cytogenetic assays are valuable for selecting patients for treatment and monitoring outcome. In solid tumors, significantly high levels of chromosome abnormalities have been detected, but distinction between critical and irrelevant events has been a major challenge. Consequently, the application of cytogenetic technology as diagnostic, prognostic, or therapeutic tools for these malignancies remains largely under appreciated. The emergence of molecular-based techniques such as fluorescence in situ hybridization was particularly useful for solid malignancies, and the spectrum of their application is rapidly expanding to improve efficiency and sensitivity in cancer prevention, diagnosis, prognosis, and therapy selection, alone or in combination with other diagnostic methods. This overview illustrates current uses and outlines potential applications for molecular cytogenetics in clinical oncology.

  17. High resolution DNA flow cytometry of boar sperm cells in identification of boars carrying cytogenetic aberrations

    DEFF Research Database (Denmark)

    Larsen, Jacob; Christensen, Knud; Larsen, Jørgen K;

    2004-01-01

    The cytogenetic quality of boars used for breeding determines the litter outcome and thus has large economical consequences. Traditionally, quality controls based on the examination of simple karyograms are time consuming and sometimes give uncertain results. As an alternative, the use of high......-resolution DNA flow cytometry on DAPI-stained sperm cell nuclei (CV...

  18. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

    NARCIS (Netherlands)

    Vorstman, JAS; Staal, WG; van Daalen, E; van Engeland, H; Hochstenbach, PFR; Franke, L

    2006-01-01

    The identification of the candidate genes for autism through linkage and association studies has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic abnormalities associated with autism. We present a review of all studies to date that relate patients with cyto

  19. CYTOGENETIC STUDY OF A NODULAR HYPERPLASIA OF THE THYROID AFTER IRRADIATION FOR HODGKINS-DISEASE

    NARCIS (Netherlands)

    VANDENBERG, E; VANDOORMAAL, JJ; OOSTERHUIS, JW; DEJONG, B; BUIST, J; VOS, AM; VERMEIJ, A; Dam, A.

    We describe cytogenetics of a case of nodular hyperplasia of the thyroid with papillary microcarcinoma following radiotherapy for Hodgkin's disease. The chromosomal pattern found was very heterogeneous with a clonal abnormality of chromosome 10, among others. Together with some recent data from the

  20. Cytogenetics of monosomes in Zea mays. Comprehensive report, February 1, 1977-May 15, 1980

    Energy Technology Data Exchange (ETDEWEB)

    Weber, D. F.

    1980-02-01

    Progress is reported in research on the cytogenetics of maize. The study has identified genetic factors that control the meiotic process, genetic recombination, lipid biosynthesis, and the free amino acid pool. It has also been determined that distributive pairing, gene compensation, and gene magnification do not occur in maize. (ACR)

  1. An integrated physical, genetic and cytogenetic map around the sunn locus of Medicago truncatula

    NARCIS (Netherlands)

    Schnabel, E.; Kulikova, O.; Penmetsa, R.V.; Bisseling, T.; Cook, D.R.; Frugoli, J.

    2003-01-01

    The sunn mutation of Medicago truncatula is a single-gene mutation that confers a novel supernodulation phenotype in response to inoculation with Sinorhizobium meliloti. We took advantage of the publicly available codominant PCR markers, the high-density genetic map, and a linked cytogenetic map to

  2. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

    NARCIS (Netherlands)

    Vorstman, JAS; Staal, WG; van Daalen, E; van Engeland, H; Hochstenbach, PFR; Franke, L

    The identification of the candidate genes for autism through linkage and association studies has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic abnormalities associated with autism. We present a review of all studies to date that relate patients with

  3. CYTOGENETIC STUDY OF A NODULAR HYPERPLASIA OF THE THYROID AFTER IRRADIATION FOR HODGKINS-DISEASE

    NARCIS (Netherlands)

    VANDENBERG, E; VANDOORMAAL, JJ; OOSTERHUIS, JW; DEJONG, B; BUIST, J; VOS, AM; VERMEIJ, A; Dam, A.

    1991-01-01

    We describe cytogenetics of a case of nodular hyperplasia of the thyroid with papillary microcarcinoma following radiotherapy for Hodgkin's disease. The chromosomal pattern found was very heterogeneous with a clonal abnormality of chromosome 10, among others. Together with some recent data from the

  4. Sample preparation and in situ hybridization techniques for automated molecular cytogenetic analysis of white blood cells

    Energy Technology Data Exchange (ETDEWEB)

    Rijke, F.M. van de; Vrolijk, H.; Sloos, W. [Leiden Univ. (Netherlands)] [and others

    1996-06-01

    With the advent in situ hybridization techniques for the analysis of chromosome copy number or structure in interphase cells, the diagnostic and prognostic potential of cytogenetics has been augmented considerably. In theory, the strategies for detection of cytogenetically aberrant cells by in situ hybridization are simple and straightforward. In practice, however, they are fallible, because false classification of hybridization spot number or patterns occurs. When a decision has to be made on molecular cytogenetic normalcy or abnormalcy of a cell sample, the problem of false classification becomes particularly prominent if the fraction of aberrant cells is relatively small. In such mosaic situations, often > 200 cells have to be evaluated to reach a statistical sound figure. The manual enumeration of in situ hybridization spots in many cells in many patient samples is tedious. Assistance in the evaluation process by automation of microscope functions and image analysis techniques is, therefore, strongly indicated. Next to research and development of microscope hardware, camera technology, and image analysis, the optimization of the specimen for the (semi)automated microscopic analysis is essential, since factors such as cell density, thickness, and overlap have dramatic influences on the speed and complexity of the analysis process. Here we describe experiments that have led to a protocol for blood cell specimen that results in microscope preparations that are well suited for automated molecular cytogenetic analysis. 13 refs., 4 figs., 1 tab.

  5. Visualizing DNA domains and sequences by microscopy: a fifty-year history of molecular cytogenetics.

    NARCIS (Netherlands)

    Jong, de J.H.S.G.M.

    2003-01-01

    This short review presents a historical perspective of chromosome research during the last 50 years. It shows how molecular knowledge and technology of DNA entered cytogenetics step by step making it now daily practice in almost every modem chromosome lab. A crucial milestone in these decades has be

  6. Cytogenetic support for early malignant change in a diffuse neurofibroma not associated with neurofibromatosis

    NARCIS (Netherlands)

    Molenaar, WM; Dijkhuizen, T; vanEchten, J; Hoekstra, HJ; vandenBerg, E

    A 62-year-old woman presented with a solitary diffuse neurofibroma; a second recurrence showed features indicative of malignancy, but insufficient for a certain histologic diagnosis. Cytogenetic analysis revealed abnormalities previously described in malignant peripheral nerve sheath tumors and not

  7. High resolution DNA flow cytometry of boar sperm cells in identification of boars carrying cytogenetic aberrations

    DEFF Research Database (Denmark)

    Larsen, Jacob; Christensen, Knud; Larsen, Jørgen K

    2004-01-01

    The cytogenetic quality of boars used for breeding determines the litter outcome and thus has large economical consequences. Traditionally, quality controls based on the examination of simple karyograms are time consuming and sometimes give uncertain results. As an alternative, the use of high-re......-resolution DNA flow cytometry on DAPI-stained sperm cell nuclei (CV...

  8. Main cytogenetic changes in roots’ meristems of cultivated plants under herbicides treatment

    Directory of Open Access Journals (Sweden)

    I. О. Oginova

    2008-03-01

    Full Text Available The herbicides treatment entails essential cytogenetic changes in maize root meristems. It is directed on realisation of strategy of the avoidance of the environment factors’ deleterious influence. Optimisation of cultivated plants state can be ensured by appropriate land treatments.

  9. [Molecular cytogenetic methods for studying interphase chromosomes in human brain cells].

    Science.gov (United States)

    Iurov, I Iu; Vorsanova, S G; Solov'ev, I V; Iurov, Iu B

    2010-09-01

    One of the main genetic factors determining the functional activity of the genome in somatic cells, including brain nerve cells, is the spatial organization of chromosomes in the interphase nucleus. For a long time, no studies of human brain cells were carried out until high-resolution methods of molecular cytogenetics were developed to analyze interphase chromosomes in nondividing somatic cells. The purpose of the present work was to assess the potential of high-resolution methods of interphase molecular cytogenetics for studying chromosomes and the nuclear organization in postmitotic brain cells. A high efficiency was shown by such methods as multiprobe and quantitative fluorescence in situ hybridization (Multiprobe FISH and QFISH), ImmunoMFISH (analysis of the chromosome organization in different types of brain cells), and interphase chromosome-specific multicolor banding (ICS-MCB). These approaches allowed studying the nuclear organization depending on the gene composition and types of repetitive DNA of specific chromosome regions in certain types of brain cells (in neurons and glial cells, in particular). The present work demonstrates a high potential of interphase molecular cytogenetics for studying the structural and functional organizations of the cell nucleus in highly differentiated nerve cells. Analysis of interphase chromosomes of brain cells in the normal and pathological states can be considered as a promising line of research in modern molecular cytogenetics and cell neurobiology, i. e., molecular neurocytogenetics.

  10. Inferring Diversity and Evolution in Fish by Means of Integrative Molecular Cytogenetics

    Directory of Open Access Journals (Sweden)

    Roberto Ferreira Artoni

    2015-01-01

    Full Text Available Fish constitute a paraphyletic and profusely diversified group that has historically puzzled ichthyologists. Hard efforts are necessary to better understand this group, due to its extensive diversity. New species are often identified and it leads to questions about their phylogenetic aspects. Cytogenetics is becoming an important biodiversity-detection tool also used to measure biodiversity evolutionary aspects. Molecular cytogenetics by fluorescence in situ hybridization (FISH allowed integrating quantitative and qualitative data from DNA sequences and their physical location in chromosomes and genomes. Although there is no intention on presenting a broader review, the current study presents some evidences on the need of integrating molecular cytogenetic data to other evolutionary biology tools to more precisely infer cryptic species detection, population structuring in marine environments, intra- and interspecific karyoevolutionary aspects of freshwater groups, evolutionary dynamics of marine fish chromosomes, and the origin and differentiation of sexual and B chromosomes. The new cytogenetic field, called cytogenomics, is spreading due to its capacity to give resolute answers to countless questions that cannot be answered by traditional methodologies. Indeed, the association between chromosomal markers and DNA sequencing as well as between biological diversity analysis methodologies and phylogenetics triggers the will to search for answers about fish evolutionary, taxonomic, and structural features.

  11. 40 CFR 798.5385 - In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 31 2010-07-01 2010-07-01 true In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis. 798.5385 Section 798.5385 Protection of Environment ENVIRONMENTAL... used. Examples of commonly used rodent species are rats, mice, and hamsters. (ii) Age. Healthy...

  12. CLASSICAL AND MOLECULAR CYTOGENETIC STUDIES FOR BREEDING AND SELECTION OF TULIPS

    Directory of Open Access Journals (Sweden)

    Aurel Popescu

    2012-12-01

    Full Text Available Due to their extreme popularity as fresh cut flowers and garden plants, and being used extensively for landscaping, tulips undergone a continuous process of selective breeding. For almost nine decades, classical cytogenetic studies, mainly the chromosome counts, have been an important part in the breeding programme for polyploid tulips. The efficiency of breeding is greatly aided by a thorough knowledge of the occurrence of polyploidy in the plant material. While the traditional cytogenetic approaches are still highly useful in selecting polyploids and aneuploids arising from crosses involving (most often parents of different ploidy or from the material subjected to ploidy manipulation, the new strategies for inducing polyploidy in tulips, either in vivo or in vitro, and advances in molecular cytogenetics are expected to allow a significant increase in breeding efficiency. Together with the shortening of breeding cycle, major genetic improvements could be made for specific traits. In this we review the development of cytogenetic studies in tulips, and the most relevant achievements so far, providing an overview of what we consider to be valuable tools for the processes of selective breeding .

  13. Cytogenetic damage at low doses and the problem of bioindication of chronic low level radiation exposure

    Energy Technology Data Exchange (ETDEWEB)

    Geras' kin, S.A.; Dikarev, V.G.; Nesterov, E.B.; Vasiliev, D.V.; Dikareva, N.S. [Russian Inst. of Agricultural Radiology and Agroecology, Obninsk (Russian Federation)

    2000-05-01

    The analysis undertaken by us of the experimentally observed cellular responses to low dose irradiation has shown that the relationship between the yield of induced cytogenetic damage and radiation dose within low dose range is non-linear and universal in character. Because of the relationship between the yield of cytogenetic damage and dose within low dose range is non-linear, the aberration frequency cannot be used in biological dosimetry in the most important in terms of practical application case. The cytogenetic damage frequency cannot be used in biological dosimetry also because of the probability of synergistic and antagonistic interaction effects of the different nature factors simultaneously acting on test-object in real conditions is high within low dose (concentration) range. In our experimental study of the regularities in the yield of structural mutations in conditions of combined influence of ionizing radiation, heavy metals and pesticides it was found that synergistic and antagonistic effects are mainly induced in conditions of combined action of low exposure injuring agents. Experiments on agricultural plants were carried out in 1986-1989 at the 30-km zone around Chernobyl NPP. It was shown that chronic low dose exposure could cause an inheritable destabilization of genetic structures expressing in increase of cytogenetic damage and yield karyotypic variability in offspring's of irradiated organisms. Obviously exactly this circumstance is the reason of the phenomenon found in our researches of significant time delay of cytogenetic damage reduction rate from radioactive pollution reduction rate from time past from the accident moment. Research of cytogenetic damage of reproductive (seeds) and vegetative (needles) plant organs of the Pinus sylvestris tree micropopulations growing in contrast by radioactive pollution level sites of the 30-km ChNPP zone and also in the vicinity of the industrial plant <> for processing and temporary storage

  14. Minimal residual disease evaluation by flow cytometry is a complementary tool to cytogenetics for treatment decisions in acute myeloid leukaemia.

    Science.gov (United States)

    Vidriales, María-Belén; Pérez-López, Estefanía; Pegenaute, Carlota; Castellanos, Marta; Pérez, José-Juan; Chandía, Mauricio; Díaz-Mediavilla, Joaquín; Rayón, Consuelo; de Las Heras, Natalia; Fernández-Abellán, Pascual; Cabezudo, Miguel; de Coca, Alfonso García; Alonso, Jose M; Olivier, Carmen; Hernández-Rivas, Jesús M; Montesinos, Pau; Fernández, Rosa; García-Suárez, Julio; García, Magdalena; Sayas, María-José; Paiva, Bruno; González, Marcos; Orfao, Alberto; San Miguel, Jesús F

    2016-01-01

    The clinical utility of minimal residual disease (MRD) analysis in acute myeloid leukaemia (AML) is not yet defined. We analysed the prognostic impact of MRD level at complete remision after induction therapy using multiparameter flow cytometry in 306 non-APL AML patients. First, we validated the prognostic value of MRD-thresholds we have previously proposed (≥ 0.1%; ≥ 0.01-0.1%; and Cytogenetics is the most relevant prognosis factor in AML, however intermediate risk cytogenetics represent a grey zone that require other biomarkers for risk stratification, and we show that MRD evaluation discriminate three prognostic subgroups (p=0.03). Also, MRD assessments yielded relevant information on favourable and adverse cytogenetics, since patients with favourable cytogenetics and high MRD levels have poor prognosis and patients with adverse cytogenetics but undetectable MRD overcomes the adverse prognosis. Interestingly, in patients with intermediate or high MRD levels, intensification with transplant improved the outcome as compared with chemotherapy, while the type of intensification therapy did not influenced the outcome of patients with low MRD levels. Multivariate analysis revealed age, MRD and cytogenetics as independent variables. Moreover, a scoring system, easy in clinical practice, was generated based on MRD level and cytogenetics.

  15. Pharmacological, molecular, and cytogenetic analysis of "atypical" multidrug-resistant human leukemic cells.

    Science.gov (United States)

    Beck, W T; Cirtain, M C; Danks, M K; Felsted, R L; Safa, A R; Wolverton, J S; Suttle, D P; Trent, J M

    1987-10-15

    We previously described the cross-resistance patterns and cellular pharmacology of a human leukemic cell line, CEM/VM-1, selected for resistance to the epipodophyllotoxin teniposide (M. K. Danks et al., Cancer Res., 47: 1297-1301, 1987). Compared to CEM/VLB100, which is a well characterized "classic" multidrug-resistant (MDR) cell line, the CEM/VM-1 cells display "atypical" multidrug resistance (at-MDR) in that they are cross-resistant to a wide variety of natural product antitumor drugs, except the Vinca alkaloids, and they are not impaired in their ability to accumulate radiolabeled epipodophyllotoxin. We have extended our characterization of this at-MDR cell line in the present study. In comparison to CEM/VLB100 cells, we found that CEM/VM-1 cells are not cross-resistant to either actinomycin D or colchicine. Verapamil and chloroquine, which enhance the cytotoxicity of vinblastine in CEM/VLB100 cells, had little or no ability to do so in the CEM/VM-1 cells. Membrane vesicles of the two resistant sublines were examined for overexpression of the MDR-associated plasma membrane protein (P-glycoprotein, Mr 170,000 protein, or 180,000 glycoprotein) by photoaffinity labeling with the vinblastine analogue N-(p-azido[3-125I]salicyl)-N'-beta-aminoethylvindesine. We were unable to visualize the MDR-associated protein in the CEM/VM-1 membranes with this photoaffinity probe under conditions in which the P-glycoprotein was readily seen in the membranes of CEM/VLB100 cells. Furthermore, no hybridization of the pMDR1 complementary DNA was seen in slot-blot analyses of the RNA from at-MDR cells, indicating that the mdr gene coding for P-glycoprotein is not overexpressed as is the case in the classic MDR cells. However, cytogenetic analysis indicated that the CEM/VM-1 cells contained an abnormally banded region on chromosome 13q, suggesting that a gene other than mdr may be amplified in these cells. Thus, despite the two cell lines having approximately equal degrees of resistance

  16. Comparative molecular cytogenetics of major repetitive sequence families of three Dendrobium species (Orchidaceae) from Bangladesh

    Science.gov (United States)

    Begum, Rabeya; Alam, Sheikh Shamimul; Menzel, Gerhard; Schmidt, Thomas

    2009-01-01

    Background and Aims Dendrobium species show tremendous morphological diversity and have broad geographical distribution. As repetitive sequence analysis is a useful tool to investigate the evolution of chromosomes and genomes, the aim of the present study was the characterization of repetitive sequences from Dendrobium moschatum for comparative molecular and cytogenetic studies in the related species Dendrobium aphyllum, Dendrobium aggregatum and representatives from other orchid genera. Methods In order to isolate highly repetitive sequences, a c0t-1 DNA plasmid library was established. Repeats were sequenced and used as probes for Southern hybridization. Sequence divergence was analysed using bioinformatic tools. Repetitive sequences were localized along orchid chromosomes by fluorescence in situ hybridization (FISH). Key Results Characterization of the c0t-1 library resulted in the detection of repetitive sequences including the (GA)n dinucleotide DmoO11, numerous Arabidopsis-like telomeric repeats and the highly amplified dispersed repeat DmoF14. The DmoF14 repeat is conserved in six Dendrobium species but diversified in representative species of three other orchid genera. FISH analyses showed the genome-wide distribution of DmoF14 in D. moschatum, D. aphyllum and D. aggregatum. Hybridization with the telomeric repeats demonstrated Arabidopsis-like telomeres at the chromosome ends of Dendrobium species. However, FISH using the telomeric probe revealed two pairs of chromosomes with strong intercalary signals in D. aphyllum. FISH showed the terminal position of 5S and 18S–5·8S–25S rRNA genes and a characteristic number of rDNA sites in the three Dendrobium species. Conclusions The repeated sequences isolated from D. moschatum c0t-1 DNA constitute major DNA families of the D. moschatum, D. aphyllum and D. aggregatum genomes with DmoF14 representing an ancient component of orchid genomes. Large intercalary telomere-like arrays suggest chromosomal

  17. Durable Hematological and Major Cytogenetic Response in a Patient with Isolated 20q Deletion Myelodysplastic Syndrome Treated with Lenalidomide

    Directory of Open Access Journals (Sweden)

    Bagi Jana

    2014-01-01

    Full Text Available Myelodysplastic syndrome (MDS is a clonal bone marrow disorder characterized by ineffective hematopoiesis. It is characterized by peripheral blood cytopenia and significant risk of progression to acute myeloid leukemia result. Deletion of the long arm of chromosome 20 (20q deletion is present in 3–7% of patients with MDS. Lenalidomide is an immunomodulatory agent with antiangiogenic activity. It is FDA approved for the treatment of anemia in patients with low or int-1 risk MDS with chromosome 5q deletion with or without additional cytogenetic abnormalities. Study of lenalidomide in patients with MDS without 5q deletion but other karyotypic abnormalities demonstrated meaningful activity in transfusion dependent patients; however, response of patients with isolated 20q deletion to lenalidomide is not known. We are reporting a patient with 20q deletion MDS treated with lenalidomide after he failed to respond to azacytidine; to our knowledge this is the first report of a patient with isolated 20q deletion treated with lenalidomide.

  18. Effects of humic acids from landfill leachate on plants: An integrated approach using chemical, biochemical and cytogenetic analysis.

    Science.gov (United States)

    Morozesk, Mariana; Bonomo, Marina Marques; Souza, Iara da Costa; Rocha, Lívia Dorsch; Duarte, Ian Drumond; Martins, Ian Oliveira; Dobbss, Leonardo Barros; Carneiro, Maria Tereza Weitzel Dias; Fernandes, Marisa Narciso; Matsumoto, Silvia Tamie

    2017-10-01

    Biological process treatment of landfill leachate produces a significant amount of sludge, characterized by high levels of organic matter from which humic acids are known to activate several enzymes of energy metabolism, stimulating plant growth. This study aimed to characterize humic acids extracted from landfill sludge and assess the effects on plants exposed to different concentrations (0.5, 1, 2 and 4 mM C L(-1)) by chemical and biological analysis, to elucidate the influence of such organic material and minimize potential risks of using sludge in natura. Landfill humic acids showed high carbon and nitrogen levels, which may represent an important source of nutrients for plants. Biochemical analysis demonstrated an increase of enzyme activity, especially H(+)-ATPase in 2 mM C L(-1) landfill humic acid. Additionally, cytogenetic alterations were observed in meristematic and F1 cells, through nuclear abnormalities and micronuclei. Multivariate statistical analysis provided integration of physical, chemical and biological data. Despite all the nutritional benefits of humic acids and their activation of plant antioxidant systems, the observed biological effects showed concerning levels of mutagenicity. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. Cytogenetic profiles in multiple myeloma and monoclonal gammopathy of undetermined significance: a study in highly purified aberrant plasma cells.

    Science.gov (United States)

    Schmidt-Hieber, Martin; Gutiérrez, María Laura; Pérez-Andrés, Martin; Paiva, Bruno; Rasillo, Ana; Tabernero, Maria Dolores; Sayagués, José Maria; Lopez, Antonio; Bárcena, Paloma; Sanchez, María Luz; Gutiérrez, Norma C; San Miguel, Jesus F; Orfao, Alberto

    2013-02-01

    Cytogenetic studies in clonal plasma cell disorders have mainly been done in whole bone marrow or CD138(+) microbead-enriched plasma cells and suggest that recurrent immunoglobulin heavy chain translocations - e.g. t(4;14) -are primary oncogenetic events. The aim of this study was to determine cytogenetic patterns of highly purified aberrant plasma cells (median purity ≥ 98%) in different clonal plasma cell disorders. We analyzed aberrant plasma cells from 208 patients with multiple myeloma (n=148) and monoclonal gammopathy of undetermined significance (n=60) for the presence of del(13q14), del(17p13) and t(14q32) using multicolor interphase fluorescence in situ hybridization. Additionally, immunoglobulin heavy chain gene arrangements were analyzed and complementarity determining region 3 was sequenced in a subset of patients and combined multicolor interphase fluorescence in situ hybridization/immunofluorescent protein staining analyses were performed in selected cases to confirm clonality and cytogenetic findings. At diagnosis, 96% of cases with multiple myeloma versus 77% of monoclonal gammopathy of undetermined significance cases showed at least one cytogenetic alteration and/or hyperdiploidy. The cytogenetic heterogeneity of individual cases reflected coexistence of cytogenetically-defined aberrant plasma cell clones, and led to the assumption that karyotypic alterations were acquired stepwise. Cases of multiple myeloma and monoclonal gammopathy of undetermined significance frequently showed different but related cytogenetic profiles when other cytogenetic alterations such as deletions/gains of the immunoglobulin heavy chain or the fibroblast growth factor receptor 3 were additionally considered. Interestingly, in 24% of multiple myeloma versus 62% of monoclonal gammopathy of undetermined significance patients with an immunoglobulin heavy chain translocation, aberrant plasma cells with and without t(14q32) coexisted in the same patient. Our data suggest that

  20. Targeted deep sequencing improves outcome stratification in chronic myelomonocytic leukemia with low risk cytogenetic features

    Science.gov (United States)

    Palomo, Laura; Garcia, Olga; Arnan, Montse; Xicoy, Blanca; Fuster, Francisco; Cabezón, Marta; Coll, Rosa; Ademà, Vera; Grau, Javier; Jiménez, Maria-José; Pomares, Helena; Marcé, Sílvia; Mallo, Mar; Millá, Fuensanta; Alonso, Esther; Sureda, Anna; Gallardo, David; Feliu, Evarist; Ribera, Josep-Maria; Solé, Francesc; Zamora, Lurdes

    2016-01-01

    Clonal cytogenetic abnormalities are found in 20-30% of patients with chronic myelomonocytic leukemia (CMML), while gene mutations are present in >90% of cases. Patients with low risk cytogenetic features account for 80% of CMML cases and often fall into the low risk categories of CMML prognostic scoring systems, but the outcome differs considerably among them. We performed targeted deep sequencing of 83 myeloid-related genes in 56 CMML patients with low risk cytogenetic features or uninformative conventional cytogenetics (CC) at diagnosis, with the aim to identify the genetic characteristics of patients with a more aggressive disease. Targeted sequencing was also performed in a subset of these patients at time of acute myeloid leukemia (AML) transformation. Overall, 98% of patients harbored at least one mutation. Mutations in cell signaling genes were acquired at time of AML progression. Mutations in ASXL1, EZH2 and NRAS correlated with higher risk features and shorter overall survival (OS) and progression free survival (PFS). Patients with SRSF2 mutations associated with poorer OS, while absence of TET2 mutations (TET2wt) was predictive of shorter PFS. A decrease in OS and PFS was observed as the number of adverse risk gene mutations (ASXL1, EZH2, NRAS and SRSF2) increased. On multivariate analyses, CMML-specific scoring system (CPSS) and presence of adverse risk gene mutations remained significant for OS, while CPSS and TET2wt were predictive of PFS. These results confirm that mutation analysis can add prognostic value to patients with CMML and low risk cytogenetic features or uninformative CC. PMID:27486981

  1. Biological dosimetry -- cytogenetics findings at persons occupationally exposed to ionizing radiation.

    Science.gov (United States)

    Catović, Amra; Tanacković, Fikreta

    2006-05-01

    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%.

  2. Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics

    Directory of Open Access Journals (Sweden)

    Kucheria Kiran

    2002-01-01

    Full Text Available Chromosomal aneuploidies especially trisomies 13, 18, 21, monosomy X and 47, XXY account for up to 95% of live born cytogenetic abnormalities. The diagnosis of aneuploidies usually done by conventional cytogenetic analysis (CCA is associated with technical difficulties and requires about 1-3 weeks for providing a result, especially in prenatal diagnosis. In the present study, Fluorescence In Situ Hybridization (FISH was used on interphase cells for rapid prenatal and postnatal detection of aneuploidies. The frequent indications of high pregnancies included for prenatal diagnosis were previous child with chromosomal abnormalities, abnormal ultrasound scan and advanced maternal age (> 35 years. Interphase FISH was done using probes specific for chromosomes 13, 18, 21, X and Y on uncultured chorionic villi and amniotic fluid samples. All samples were analyzed subsequently using conventional cytogenetics. The analysis of aneuploidies for chromosomes 13, 15, 16, 18, 21, 22, X and Y using FISH was extended to abortuses from spontaneous abortion cases. In cases where cytogenetics was not informative, a diagnosis could be made using interphase FISH. For postnatal diagnosis, interphase FISH was done to confirm low-level mosaicism in patients with primary amenorrhea, suspected cases of Klinefelter syndrome, and mental retardation using probes specific for various autosomes, X and Y chromosomes. FISH was also done using probe specific for the sex-determining region (SRY on the Y chromosome in cases with ambiguous genitalia. The SRY region could be identified in cases that lacked the Y chromosome on conventional cytogenetic analysis thereby emphasizing on the high resolution of FISH technique in detecting sub-microscopic rearrangements. To conclude, interphase FISH decreases the time interval between sampling and diagnosis. This is of tremendous value in prenatal diagnosis of urgent high-risk pregnancies, management of ambiguous genitalia and low

  3. Dioxins and cytogenetic status of villagers after 40 years of agent Orange application in Vietnam.

    Science.gov (United States)

    Sycheva, Lyudmila P; Umnova, Nataliya V; Kovalenko, Maria A; Zhurkov, Vjacheslav S; Shelepchikov, Andrey A; Roumak, Vladimir S

    2016-02-01

    We have examined cytogenetic status of the rural population living on dioxin-contaminated territories (DCT, TCDD in soil 2.6 ng/kg) compared to the villagers of the control area (TCDD in soil 0.18 ng kg(-1)). The examination took place almost 40 years after the war. The consequences of some confounding factors (years of residence in the region, farming, and aging) has been examined. Karyological analysis of buccal and nasal epitheliocytes among healthy adult males living on DCT and control area (26 and 35 persons) was conducted. A wide range of cytogenetic (micronuclei, nuclear protrusions), proliferative (binucleated cells and cells with doubled nucleus) and endpoints of cell death (cells with perinuclear vacuoles, with damaged nucleus membrane, condensed chromatin, pyknosis, karyorrhexis, karyolysis) had been analyzed. The frequent amount of cells with nuclear protrusions in both epithelia was slightly decreased in the DСT group. Biomarkers of early and late stages of nuclear destruction in buccal epithelium (cells with damaged nuclear membrane, karyolysis) were elevated significantly in DCT. Higher level of the same parameters was also identified in nasal epithelium. The cytogenetic status of healthy adult males on DCT had got "normalization" by present moment in comparison with our early data. Nevertheless, in exposed group some alteration of the cytogenetic status was being registered (mostly biomarkers of apoptosis). Years of residence (and exposure to dioxins) affected the cytogenetic status of DCT inhabitants, whereas no influence of farming factors (pesticides, fertilizers, etc.) had been discovered. Some biomarkers of proliferation and cell death were affected by aging.

  4. Cytogenetic studies of 11 meningiomas and their clinical significance. II

    DEFF Research Database (Denmark)

    Poulsgård, L; Schrøder, H D; Rønne, M

    1990-01-01

    growth pattern than is usually seen in meningiomas. The first case was characterized by tumor invasion into the bone, a stemline with monosomy 22 and a hyperhaploid sideline. The second case was characterized by recurrency and a hypodiploid stemline. Extended clonal evolution was observed in one case....

  5. Cytogenetic analyses of two endemic fish species from the São Francisco River basin: Conorhynchus conirostris and Lophiosilurus alexandri (Siluriformes

    Directory of Open Access Journals (Sweden)

    Marilza Barbosa de Almeida Marques

    2008-01-01

    Full Text Available Two Siluriformes species endemic to the São Francisco River basin were characterized by conventional and differential cytogenetic analyses involving C-banding, Ag-nucleolar organizer region (NOR and chromomycin A3 (CMA3 staining, and FISH (fluorescent in situ hybridization with 18S and 5S rDNA probes. Conorhynchus conirostris presents a higher diploid number (2n = 60 than those detected in Pimelodidae representatives, whereas Lophiosilurus alexandri, with a karyotype of 2n = 54 chromosomes, presents a chromosomal constitution similar to that found in the family Pseudopimelodidae. Plesiomorphic characteristics such as single NORs at terminal positions are found in both species, as revealed by CMA3 and silver nitrate staining, and FISH with a 18S rDNA probe. C-banding evidenced centromeric and telomeric heterochromatic blocks distributed over most of the chromosomes with a conspicuous heterochromatin segment in a pair of submetacentric chromosomes in L. alexandri. Such karyotype data, if compared to the cytogenetic pattern of other Siluriformes species, can be partially related to their degree of endemism, favorable to the occurrence and fixation of chromosomal rearrangements. The present study in representatives from these two Siluriformes families from the São Francisco River contributes to a better understanding of the karyotype evolution in species of this important order of Neotropical fishes.

  6. Cytogenetic Analysis of the South American Fruit Fly Anastrepha fraterculus (Diptera:Tephritidae) Species Complex: Construction of Detailed Photographic Polytene Chromosome Maps of the Argentinian Af. sp.1 Member.

    Science.gov (United States)

    Gariou-Papalexiou, Angeliki; Giardini, María Cecilia; Augustinos, Antonios A; Drosopoulou, Elena; Lanzavecchia, Silvia B; Cladera, Jorge L; Caceres, Carlos; Bourtzis, Kostas; Mavragani-Tsipidou, Penelope; Zacharopoulou, Antigone

    2016-01-01

    Genetic and cytogenetic studies constitute a significant basis for understanding the biology of insect pests and the design and the construction of genetic tools for biological control strategies. Anastrepha fraterculus is an important pest of the Tephritidae family. It is distributed from southern Texas through eastern Mexico, Central America and South America causing significant crop damage and economic losses. Currently it is considered as a species complex; until now seven members have been described based on multidisciplinary approaches. Here we report the cytogenetic analysis of an Argentinian population characterized as Af. sp.1 member of the Anastrepha fraterculus species complex. The mitotic karyotype and the first detailed photographic maps of the salivary gland polytene chromosomes are presented. The mitotic metaphase complement consists of six (6) pairs of chromosomes, including one pair of heteromorphic sex chromosomes, with the male being the heterogametic sex. The analysis of the salivary gland polytene complement shows a total number of five long chromosomes that correspond to the five autosomes of the mitotic karyotype and a heterochromatic network corresponding to the sex chromosomes. Comparison of the polytene chromosome maps between this species and Anastrepha ludens shows significant similarity. The polytene maps presented here are suitable for cytogenetic studies that could shed light on the species limits within this species complex and support the development of genetic tools for sterile insect technique (SIT) applications.

  7. Cytogenetic Analysis of the South American Fruit Fly Anastrepha fraterculus (Diptera:Tephritidae Species Complex: Construction of Detailed Photographic Polytene Chromosome Maps of the Argentinian Af. sp.1 Member.

    Directory of Open Access Journals (Sweden)

    Angeliki Gariou-Papalexiou

    Full Text Available Genetic and cytogenetic studies constitute a significant basis for understanding the biology of insect pests and the design and the construction of genetic tools for biological control strategies. Anastrepha fraterculus is an important pest of the Tephritidae family. It is distributed from southern Texas through eastern Mexico, Central America and South America causing significant crop damage and economic losses. Currently it is considered as a species complex; until now seven members have been described based on multidisciplinary approaches. Here we report the cytogenetic analysis of an Argentinian population characterized as Af. sp.1 member of the Anastrepha fraterculus species complex. The mitotic karyotype and the first detailed photographic maps of the salivary gland polytene chromosomes are presented. The mitotic metaphase complement consists of six (6 pairs of chromosomes, including one pair of heteromorphic sex chromosomes, with the male being the heterogametic sex. The analysis of the salivary gland polytene complement shows a total number of five long chromosomes that correspond to the five autosomes of the mitotic karyotype and a heterochromatic network corresponding to the sex chromosomes. Comparison of the polytene chromosome maps between this species and Anastrepha ludens shows significant similarity. The polytene maps presented here are suitable for cytogenetic studies that could shed light on the species limits within this species complex and support the development of genetic tools for sterile insect technique (SIT applications.

  8. The value of cytogenetic monitoring versus film dosimetry in the hot zone of a nuclear power plant

    Energy Technology Data Exchange (ETDEWEB)

    Kubelka, D.; Fucic, A.; Milkovic-Kraus, S. (University of Zagreb (Yugoslavia). Institute for Medical research and Occupational Health)

    1992-11-01

    Cytogenetic analysis was carried out in 41 workers prior to and following regular maintenance work in a nuclear power plant. Although film dosimetry did not show the maximal annual permitted dose in any of the examined subjects, cytogenetic analysis carried out following the work detected dicentric chromosomes in peripheral blood lymphocytes of 20 workers. According to our findings smoking habits and previous exposure to ionizing radiation had no effect on the increased number of chromosomal aberrations. (author). 23 refs.; 1 tab.

  9. Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group

    Science.gov (United States)

    Avet-Loiseau, Hervé; Lonial, Sagar; Usmani, Saad; Siegel, David; Anderson, Kenneth C.; Chng, Wee-Joo; Moreau, Philippe; Attal, Michel; Kyle, Robert A.; Caers, Jo; Hillengass, Jens; San Miguel, Jesús; van de Donk, Niels W. C. J.; Einsele, Hermann; Bladé, Joan; Durie, Brian G. M.; Goldschmidt, Hartmut; Mateos, María-Victoria; Palumbo, Antonio; Orlowski, Robert

    2016-01-01

    The International Myeloma Working Group consensus updates the definition for high-risk (HR) multiple myeloma based on cytogenetics Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16), t(14;20), nonhyperdiploidy, and gain(1q) were identified that confer poor prognosis. The prognosis of patients showing these abnormalities may vary with the choice of therapy. Treatment strategies have shown promise for HR cytogenetic diseases, such as proteasome inhibition in combination with lenalidomide/pomalidomide, double autologous stem cell transplant plus bortezomib, or combination of immunotherapy with lenalidomide or pomalidomide. Careful analysis of cytogenetic subgroups in trials comparing different treatments remains an important goal. Cross-trial comparisons may provide insight into the effect of new drugs in patients with cytogenetic abnormalities. However, to achieve this, consensus on definitions of analytical techniques, proportion of abnormal cells, and treatment regimens is needed. Based on data available today, bortezomib and carfilzomib treatment appear to improve complete response, progression-free survival, and overall survival in t(4;14) and del(17/17p), whereas lenalidomide may be associated with improved progression-free survival in t(4;14) and del(17/17p). Patients with multiple adverse cytogenetic abnormalities do not benefit from these agents. FISH data are implemented in the revised International Staging System for risk stratification. PMID:27002115

  10. Cytogenetic analysis of Baryancistrus xanthellus (Siluriformes: Loricariidae: Ancistrini, an ornamental fish endemic to the Xingu River, Brazil

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    Larissa A. Medeiros

    Full Text Available ABSTRACT Baryancistrus xanthellus is a species from the Ancistrini tribe known commonly as "amarelinho " or "golden nugget pleco". It is one of the most popular and valued ornamental fishes due to its color pattern. Also, it is an endemic species from the Xingu River occurring from Volta Grande do Xingu, region where the Belo Monte Hydropower Dam is being built, to São Félix do Xingu. The current study aimed to cytogenetically characterize B. xanthellus . Results point to the maintenance of 2n=52, which is considered the most common condition for the tribe, and a single nucleolus organizer region (NOR. Mapping of the 18S rDNA confirmed the NOR sites, and the 5S rDNA was mapped in the interstitial position of a single chromosome pair. The 18S and 5S rDNA located in different pairs constitute an apomorphy in Loricariidae. Large blocks of heterochromatin are present in pairs 1 and 10 and in the regions equivalent to NOR and the 5S rDNA. Data obtained in this study corroborated with the currently accepted phylogenetic hypothesis for the Ancistrini and demonstrate evidence that the genus Baryancistrus occupies a basal position in the tribe.

  11. Comparative cytogenetics of six Indo-Pacific moray eels (Anguilliformes: Muraenidae) by chromosomal banding and fluorescence in situ hybridization.

    Science.gov (United States)

    Coluccia, E; Deidda, F; Cannas, R; Lobina, C; Cuccu, D; Deiana, A M; Salvadori, S

    2015-09-01

    A comparative cytogenetic analysis, using both conventional staining techniques and fluorescence in situ hybridization, of six Indo-Pacific moray eels from three different genera (Gymnothorax fimbriatus, Gymnothorax flavimarginatus, Gymnothorax javanicus, Gymnothorax undulatus, Echidna nebulosa and Gymnomuraena zebra), was carried out to investigate the chromosomal differentiation in the family Muraenidae. Four species displayed a diploid chromosome number 2n = 42, which is common among the Muraenidae. Two other species, G. javanicus and G. flavimarginatus, were characterized by different chromosome numbers (2n = 40 and 2n = 36). For most species, a large amount of constitutive heterochromatin was detected in the chromosomes, with species-specific C-banding patterns that enabled pairing of the homologous chromosomes. In all species, the major ribosomal genes were localized in the guanine-cytosine-rich region of one chromosome pair, but in different chromosomal locations. The (TTAGGG)n telomeric sequences were mapped onto chromosomal ends in all muraenid species studied. The comparison of the results derived from this study with those available in the literature confirms a substantial conservation of the diploid chromosome number in the Muraenidae and supports the hypothesis that rearrangements have occurred that have diversified their karyotypes. Furthermore, the finding of two species with different diploid chromosome numbers suggests that additional chromosomal rearrangements, such as Robertsonian fusions, have occurred in the karyotype evolution of the Muraenidae.

  12. Cytogenetic analysis in the neotropical fish Astyanax goyacensis Eigenmann, 1908 (Characidae, incertae sedis): karyotype description and occurrence of B microchromosomes

    Science.gov (United States)

    2013-01-01

    Background B chromosomes, also known as supernumerary or accessory chromosomes, are additional chromosomes over the standard complement found in various groups of plants and animals. We investigated the presence of, and characterized, supernumerary microchromosomes in Astyanax goyacensis using classical and molecular cytogenetic methods. Findings Three specimens possessed 2n = 50 chromosomes (8m + 26sm + 8st + 8a), and two specimens contained 1 to 9 additional B microchromosomes varying intra- and inter-individually. Chromosome painting with a B chromosome-specific probe yielded signals for several B microchromosomes, with one exhibiting no markings. Acrocentric chromosomes of the standard complement were also painted. Fluorescence in situ hybridization (FISH) using ribosomal probes located two chromosome pairs carrying 18S rDNA marked on the short arm, and one pair carrying 5S rDNA with pericentromeric markings. One chromosome was observed in synteny with 18S cistrons. Conclusion These data contribute to knowledge of the karyotype evolution, the origin of B chromosomes, and to an understanding of the functionality of rDNA. PMID:24192310

  13. THE USE OF VERBAL AND VISUAL METAPHORS IN THE TRAINING COURSES IN THE SUBJECTS OF "CYTOGENETICS" AND "GENETIC MONITORING"

    Directory of Open Access Journals (Sweden)

    Tsatsenko L. V.

    2016-04-01

    Full Text Available The article considers issues of presentation of educational material using verbal and visual metaphors. Metaphors functions are analyzed, such as: representative, which is a new phenomenon and new object. The second function is the information, i.e., metaphor gives the initial information. The third function is called ornamental, where metaphor adorns scientific speech, makes it more intense. The fourth function of metaphor is explanatory that is metaphor explains the meaning of the phenomenon. The fifth function is economical, because the metaphor allows characterizing phenomena briefly and processes that are at a different way of expressing it was hard to describe. Sixth function is visual, as it creates an image, contributing to the achievement of this phenomenon. We have presented verbal and visual metaphors for each function in the example of teaching disciplines cytogenetics and genetic monitoring. For the implementation in the educational process of metaphors during 2 years of gathered verbal metaphors of scientific articles and books, and reinforce their visual metaphors based on works of art. It is shown that a metaphor conveys not only the primary sense, but also allows you to recreate a bright and unconventional way. In some cases, a metaphor can be a supplement to development of the new course, but sometimes they need to be the main focus in the presentation of the material

  14. Review of the Genus Andropogon (Poaceae: Andropogoneae in America Based on Cytogenetic Studies

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    Nicolás Nagahama

    2012-01-01

    Full Text Available Andropogon is a pantropical grass genus comprising 100–120 species and found mainly in the grasslands of Africa and the Americas. In the new world the genus is represented by approximately sixty (diploids or hexaploids species grouped in three sections. The hexaploid condition occurs only in the Americas and the full process of this origin is still uncertain, although cytogenetic analysis coupled with taxonomic evidence have provided strong support for new hypothesis. Stebbins proposed the first hypothesis suggesting that the origin of polyploidy in species of Andropogon in North America resulted from duplication of the genome of some diploid species, and then by intergeneric crosses with species of a related genus. Since then, numerous studies were performed to clarify the evolutionary history of the genus in America. In this paper, we present a review of cytogenetic studies in the American Andropogon species during the last four decades.

  15. Medical applications of array CGH and the transformation of clinical cytogenetics.

    Science.gov (United States)

    Shaffer, L G; Bejjani, B A

    2006-01-01

    Microarray-based comparative genomic hybridization (array CGH) merges molecular diagnostics with traditional chromosome analysis and is transforming the field of cytogenetics. Prospective studies of individuals with developmental delay and dysmorphic features have demonstrated that array CGH has the ability to detect any genomic imbalance including deletions, duplications, aneuploidies and amplifications. Detection rates for chromosome abnormalities with array CGH range from 5-17% in individuals with normal results from prior routine cytogenetic testing. In addition, copy number variants (CNVs) were identified in all studies. These CNVs may include large-scale variation and can confound the diagnostic interpretations. Although cytogeneticists will require additional training and laboratories must become appropriately equipped, array CGH holds the promise of being the initial diagnostic tool in the identification of visible and submicroscopic chromosome abnormalities in mental retardation and other developmental disabilities.

  16. Interphase cytogenetics in pathology: principles, methods, and applications of fluorescence in situ hybridization (FISH).

    Science.gov (United States)

    Werner, M; Wilkens, L; Aubele, M; Nolte, M; Zitzelsberger, H; Komminoth, P

    1997-01-01

    Characteristic chromosome aberrations have been identified in various tumors. Fluorescence in situ hybridization (FISH) using specific probes that are generated by vector cloning or in vitro amplification and labeled with fluorescent dyes allow for the detection of these genetic changes in interphase cells. This technique, that is also referred to as "interphase cytogenetics", can be performed in cytological preparations as well as in sections of routinely formaldehyde-fixed and paraffin-embedded tissue. In cancer research and diagnostics, interphase cytogenetics by FISH is used to detect numerical chromosome changes and structural aberrations, e.g., translocations, deletions, or amplifications. In this technical overview, we explain the principles of the FISH method and provide protocols for FISH in cytological preparations and paraffin sections. Moreover, possible applications of FISH are discussed.

  17. Abilities of cultural plants’ state indicationin agrophytocenoses by different morphology-physiological and cytogenetic indices

    Directory of Open Access Journals (Sweden)

    I. О. Oginova

    2009-01-01

    Full Text Available Mathematical models system allowing assessing the state of 7 weeds species by the allelopathic activity and some morphology-physiological and cytogenetic indices is presented. There are many morphology-physiological and cytogenetic features may be used for the bioindication of cultural plants’ state. They are height, leaf area, chlorophyll or carotenoids content, mitotic index, DNA content in the interphase nuclei of root meristem cells, somatic mutations level, truss size, pollen sterility and fertile pollen grains volume. These features essentially depend on the allelopathic activity of the weeds and different techniques of the crops management. They set up the uniform system in which every constituent may harmonize its changes with the other ones, that furthers the maintenance equilibrium in a biogeocoenosis.

  18. Comparative analyses in Lotus: the cytogenetic map of Lotus uliginosus Schkuhr.

    Science.gov (United States)

    Ferreira, J; Mendes, S; Dall'agnol, M; Sandal, N; Sato, S; Pedrosa-Harand, A

    2012-01-01

    A comparative cytogenetic map was built for Lotusuliginosus (2n = 12), expanding previous analyses that revealed intra- and interspecific chromosomal rearrangements in the model legume L. japonicus, L. filicaulis, and L. burttii. This species is positioned in a sister clade of the previously-mapped species and is proposed as one of the progenitors of L. corniculatus, the main forage crop of the genus. The cytogenetic map allowed the location of 12 genomic regions to be compared between these species. A high macrosynteny was revealed, but it was interrupted by a translocation involving chromosomes 3 and 5, a new rearrangement for the genus. Also, a transposition on chromosome 2 was found in L. japonicus 'Miyakojima'. Furthermore, changes in the number, size, and position of rDNA sites were observed, as well as an intraspecific size heteromorphism of the 5S rDNA site on L. uliginosus chromosome 6. The karyotype differences observed are proportional to the phylogenetic distance among these species.

  19. The cytogenetics and evolution of forage legumes from Rio Grande do Sul: a review

    Directory of Open Access Journals (Sweden)

    Maria Teresa Schifino-Wittmann

    2000-12-01

    Full Text Available The work developed by the Cytogenetics Group of the Department of Forage Plants and Agrometeorology (Departamento de Plantas Forrageiras e Agrometerologia - DPFA, Agronomy Faculty, Federal University of Rio Grande do Sul (UFRGS, are reviewed in the present study. Topics discussed include: the chromosome numbers and meiotic behavior of Desmodium and Vigna; the application of cytogenetic methods (e.g., polyploidy induction in Trifolium riograndense to plant breeding; the genetic control of chromosome pairing in autopolyploids of T. riograndense; karyotypes of the Vicia sativa aggregate in Southern Brazil as an example of a founder effect leading to a reduction in karyotype but not to morphological variability; data on the karyotypes of four Lathyrus species which show that the evolution of these species has been accompanied by a decrease in chromosome size, and the results of an investigation of variability in chromosome number in a complete genus, Leucaena. The main objectives of the group for the near future are also outlined.

  20. Increased oxidative damage associated with unfavorable cytogenetic subgroups in chronic lymphocytic leukemia.

    Science.gov (United States)

    Collado, Rosa; Ivars, David; Oliver, Isabel; Tormos, Carmen; Egea, Mercedes; Miguel, Amparo; Sáez, Guillermo T; Carbonell, Félix

    2014-01-01

    Oxidative stress contributes to genomic instability in chronic lymphocytic leukemia (CLL), but its relationship with the acquisition of specific chromosomal abnormalities is unknown. We recruited 55 untreated CLL patients and assessed 8-oxo-2'-deoxyguanosine (8-oxo-dG), glutathione, and malondialdehyde (MDA) levels, and we compared them among the cytogenetic subgroups established using fluorescence in situ hybridization (FISH). Significant increases in 8-oxo-dG and/or MDA were observed in patients with unfavorable cytogenetic aberrations (17p and 11q deletions) compared to the 13q deletion group. TP53 deletion patients exhibited a diminished DNA repair efficiency. Finally, cases with normal FISH also showed enhanced 8-oxo-dG, which could result in adverse outcomes.

  1. Cytogenetic and andrological status and ICSI-results in couples with severe male factor infertility

    Institute of Scientific and Technical Information of China (English)

    G.Haidl; B.Peschka; G.Schwanitz; M.Montag; K.vanderVen; H.vanderVen

    2000-01-01

    Aim: To pursue whether cytogenetic aberrations correlate with specific spermatological or hormonal abnormalities.Methods: 305 infertile couples were investigated. All male partners were referred to a complete andrological workup with physical examination, determination of hormones, HIV testing and semen analysis. Cytogenetic analysis was carried out in both partners by means of standard techniques using cultured lymphocytes from peripheral blood. Results: Among the 305 couples, 10 men (3.2%) and 10 women (3.2%) showed constitutional chromosomal aberrations, including reciprocal translocations (n=7), Robertsonian translocations (n=3), inversions (n=3), other structural aberrations (n=4) and sex chromosome aberrations (n=3). In addition to the impaired sperm count in most of the patients, a tendency to an increased proportion of spermatozoa with acrosome defect was observed. Conclusion. Chromosomal aberrations may contribute to the low fertilization and pregnancy rates in the infertile couples.(Asian J Androl 2000 Dec;2:293-296)

  2. Cryptic PML-RARα positive acute promyelocytic leukemia with unusual morphology and cytogenetics

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    Goyal Manu

    2010-10-01

    Full Text Available Acute Promyelocytic Leukemia (APL is different from other forms of acute myeloid leukemia (AML, to the reason being the potential devastating coagulopathy and the sensitivity to all-trans retinoic acid (ATRA and arsenic trioxide (As 2 O 3 . We hereby present a case of APL, morphologically distinct from the hypergranular APL; however, the flow cytometry revealed a characteristic phenotype showing dim CD45, bright CD13, bright CD33 and dim CD117 positivity. These were negative for CD34, HLA-DR, B-lymphoid and T-lymphoid lineage markers. Conventional cytogenetics revealed a distinct karyotype of a male with translocation t(4;15(q34.2:q26.3. However, interphase florescence-in-situ hybridization (FISH revealed PML/RARA fusion signal on chromosome 15 in 90% cells. The cryptic translocations may be missed on conventional cytogenetics, however, need to be picked by other techniques as FISH.

  3. Study on Effect of Aloe Glue on Cytogenetics, Cellular Immunity and Cell Proliferation of Human Cells

    Institute of Scientific and Technical Information of China (English)

    ZHANG Jiahua; WEN Shaluo; XIA Yun; ZHANG Lijun

    2002-01-01

    Objective To provide the scientific evidence for the exploiture of aloe resource. Methods Cytological combined determination was used to study the effect of aloe glue(0.01 ~ 0.3ml) on cytogenetics, cellular immunity and cell proliferation of human cells. Results SCE and MNR in varying dose groups had no significant differences as compared with control group( P > 0.05). LTR was significantly higher than that of control group(P < 0.005). MI was significantly higher than that of control group ( P < 0.05). M3 and PRI in highest dose group had significant differences as compared with control group (P < 0.05). Conclusion Aloe gel had no significant effect on cytogenetics. But it had activating effects on immunity and proliferation of cells.

  4. Comparative Cytogenetic Study on the Toxicity of Magnetite and Zinc Ferrite Nanoparticles in Sunflower Root Cells

    Science.gov (United States)

    Foca-nici, Ecaterina; Capraru, Gabriela; Creanga, Dorina

    2010-12-01

    In this experimental study the authors present their results regarding the cellular division rate and the percentage of chromosomal aberrations in the root meristematic cells of Helianthus annuus cultivated in the presence of different volume fractions of magnetic nanoparticle suspensions, ranging between 20 and 100 microl/l. The aqueous magnetic colloids were prepared from chemically co-precipitated ferrites coated in sodium oleate. Tissue samples from the root meristeme of 2-3 day old germinated seeds were taken to prepare microscope slides following Squash method combined with Fuelgen techniques. Microscope investigation (cytogenetic tests) has resulted in the evaluation of mitotic index and chromosomal aberration index that appeared diminished and respectively increased following the addition of magnetic nanoparticles in the culture medium of the young seedlings. Zinc ferrite toxic influence appeared to be higher than that of magnetite, according to both cytogenetic parameters.

  5. Use of Repetitive Sequences for Molecular and Cytogenetic Characterization of Avena Species from Portugal.

    Science.gov (United States)

    Tomás, Diana; Rodrigues, Joana; Varela, Ana; Veloso, Maria Manuela; Viegas, Wanda; Silva, Manuela

    2016-02-04

    Genomic diversity of Portuguese accessions of Avena species--diploid A. strigosa and hexaploids A. sativa and A. sterilis--was evaluated through molecular and cytological analysis of 45S rDNA, and other repetitive sequences previously studied in cereal species--rye subtelomeric sequence (pSc200) and cereal centromeric sequence (CCS1). Additionally, retrotransposons and microsatellites targeting methodologies--IRAP (inter-retrotransposon amplified polymorphism) and REMAP (retrotransposon-microsatellite amplified polymorphism)--were performed. A very high homology was detected for ribosomal internal transcribed sequences (ITS1 and ITS2) between the species analyzed, although nucleolar organizing regions (NOR) fluorescent in situ hybridization (FISH) analysis revealed distinct number of Nor loci between diploid and hexaploid species. Moreover, morphological diversity, evidenced by FISH signals with different sizes, was observed between distinct accessions within each species. pSc200 sequences were for the first time isolated from Avena species but proven to be highly similar in all genotypes analyzed. The use of primers designed for CCS1 unraveled a sequence homologous to the Ty3/gypsy retrotransposon Cereba, that was mapped to centromeric regions of diploid and hexaploid species, being however restricted to the more related A and D haplomes. Retrotransposon-based methodologies disclosed species- and accessions-specific bands essential for the accurate discrimination of all genotypes studied. Centromeric, IRAP and REMAP profiles therefore allowed accurate assessment of inter and intraspecific variability, demonstrating the potential of these molecular markers on future oat breeding programs.

  6. Use of Repetitive Sequences for Molecular and Cytogenetic Characterization of Avena Species from Portugal

    Science.gov (United States)

    Tomás, Diana; Rodrigues, Joana; Varela, Ana; Veloso, Maria Manuela; Viegas, Wanda; Silva, Manuela

    2016-01-01

    Genomic diversity of Portuguese accessions of Avena species—diploid A. strigosa and hexaploids A. sativa and A. sterilis—was evaluated through molecular and cytological analysis of 45S rDNA, and other repetitive sequences previously studied in cereal species—rye subtelomeric sequence (pSc200) and cereal centromeric sequence (CCS1). Additionally, retrotransposons and microsatellites targeting methodologies—IRAP (inter-retrotransposon amplified polymorphism) and REMAP (retrotransposon-microsatellite amplified polymorphism)—were performed. A very high homology was detected for ribosomal internal transcribed sequences (ITS1 and ITS2) between the species analyzed, although nucleolar organizing regions (NOR) fluorescent in situ hybridization (FISH) analysis revealed distinct number of Nor loci between diploid and hexaploid species. Moreover, morphological diversity, evidenced by FISH signals with different sizes, was observed between distinct accessions within each species. pSc200 sequences were for the first time isolated from Avena species but proven to be highly similar in all genotypes analyzed. The use of primers designed for CCS1 unraveled a sequence homologous to the Ty3/gypsy retrotransposon Cereba, that was mapped to centromeric regions of diploid and hexaploid species, being however restricted to the more related A and D haplomes. Retrotransposon-based methodologies disclosed species- and accessions-specific bands essential for the accurate discrimination of all genotypes studied. Centromeric, IRAP and REMAP profiles therefore allowed accurate assessment of inter and intraspecific variability, demonstrating the potential of these molecular markers on future oat breeding programs. PMID:26861283

  7. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

    Energy Technology Data Exchange (ETDEWEB)

    Cheng, Sou-De; Knoll, J.H.M. [Harvard Medical School, Boston, MA (United States); Spinner, N.B.; Zackai, E.H. [Children`s Hospital, Philadelphia, PA (United States)

    1994-10-01

    We have studied the inverted duplicated chromosomes 15 (inv dup(15)) from 11 individuals - 7 with severe mental retardation and seizures, 3 with a normal phenotype, and 1 with Prader-Willi syndrome (PWS). Through a combination of FISH and quantitative DNA analyses, three different molecular sizes of inv dup(15) were identified. The smallest inv dup(15) was positive only for the centromeric locus D15Z1 (type 1); the next size was positive for D15Z1 and D15S18 (type 2); and the largest inv dup(15) was positive for two additional copies of loci extending from D15Z1 and D15S18 through D15S12 (type 3). Type 1 or type 2 was observed in the three normal individuals and the PWS patient. Type 3 was observed in all seven individuals with mental retardation and seizures but without PWS or Angelman Syndrome (AS). The PWS patient, in addition to being mosaic for a small inv dup(15), demonstrated at D15S63 a methylation pattern consistent with material uniparental inheritance of the normal chromosomes 15. The results from this study show (a) two additional copies of proximal 15q loci, D15S9 through D15S12, in mentally retarded patients with an inv dup(15) but without AS or PWS and (b) no additional copies of these loci in patients with a normal phenotype or with PWS. 36 refs., 3 figs., 2 tabs.

  8. Cytogenetic characterization of Caesalpinia spinosafrom Tarma and Palca (Junín

    Directory of Open Access Journals (Sweden)

    Alberto López

    2014-03-01

    Full Text Available Somatic chromosomes of Caesalpinia spinosa (Feuillée ex Molina Kuntze, “Tara”, wild populations of Huinco and Palca (Junín regions were studied. The specie were diploid (2n=24. Chromosomes were small. The karyotypes showed the same chromosome number, they found differences in morphological parameters of the same, with the karyotype formula for the town of Huinco: 6m + 6 sm and the town of Palca: 5m + 7 sm.

  9. Cytogenetic and Molecular Characterization of B-Genome Introgression Lines of Brassica napus L.

    Science.gov (United States)

    Dhaliwal, Inderpreet; Mason, Annaliese S.; Banga, Shashi; Bharti, Sakshi; Kaur, Beerpal; Gurung, Allison Mary; Salisbury, Phillip Anthony; Batley, Jacqueline; Banga, Surinder Singh

    2016-01-01

    Brassica napus introgression lines (ILs), having B-genome segments from B. carinata, were assessed genetically for extent of introgression and phenotypically for siliqua shatter resistance. Introgression lines had 7–9% higher DNA content, were meiotically stable, and had almost normal pollen fertility/seed set. Segment introgressions were confirmed by fluorescent genomic in situ hybridization (fl-GISH), SSR analyses, and SNP studies. Genotyping with 48 B-genome specific SSRs detected substitutions from B3, B4, B6, and B7 chromosomes on 39 of the 69 ILs whereas SNP genotyping detected a total of 23 B-segments (≥3 Mb) from B4, B6, and B7 introgressed into 10 of the 19 (C1, C2, C3, C5, C6, C8, C9, A3, A9, A10) chromosomes in 17 ILs. The size of substitutions varied from 3.0 Mb on chromosome A9 (IL59) to 42.44 Mb on chromosome C2 (IL54), ranging from 7 to 83% of the recipient chromosome. Average siliqua strength in ILs was observed to be higher than that of B. napus parents (2.2–6.0 vs. 1.9–4.0 mJ) while siliqua strength in some of the lines was almost equal to that of the donor parent B. carinata (6.0 vs.7.2 mJ). These ILs, with large chunks of substituted B-genome, can prove to be a useful prebreeding resource for germplasm enhancement in B. napus, especially for siliqua shatter resistance. PMID:27821632

  10. Two cases with partial trisomy 9p : Molecular cytogenetic characterization and clinical follow-up

    NARCIS (Netherlands)

    Littooij, AS; Hochstenbach, R; Sinke, RJ; van Tintelen, P; Giltay, JC

    2002-01-01

    This paper describes two patients with partial trisomy 9p and partial trisomy 14q due to 3:1 segregation from de novo maternal reciprocal translocations. The breakpoints are different from previously described 9;14 translocations and their 3:1 segregation products. The clinical phenotype of both cas

  11. Cytogenetic and molecular characterization of lacertid lizard species from the Iberian Peninsula

    OpenAIRE

    Rojo Oróns, Verónica

    2016-01-01

    [Abstract] Reptiles, with their great diversity of sex-determining systems, have long been regarded as a model group for studying the evolution of sex determination and sex chromosomes. They also hold a key phylogenetic position to elucidate the organization and evolution of amniote genomes. This PhD thesis aims to contribute to this understanding by investigating sex chromosomes and karyotype evolution in lacertid lizards, with a focus on rock lizard species (genus Iberolac...

  12. Cytogenetic and biochemical characterization of scots pine trees differing in resin productivity

    Energy Technology Data Exchange (ETDEWEB)

    Butorina, A.K.; Muraya, L.S.; Ryazantseva, L.A.; Vysotskii, A.A.

    1988-11-01

    The groups of Scots pine trees differing in resin productivity were compared on the basis of meiotic abnormalities. Analysis of variance by Fisher's criterion showed significant differences for these parameters between the group of high resin producing trees and the combined group of medium and low resin producing forms. These differences are related with the predominance of gene and genomic mutations in the former group, in which the higher frequency of meiotic abnormalities is genetically determined. Significant differences have been also observed between the group for the ratio for sucrose and reducing sugars in the year-old needle in the mid-vegetative period. Maximum effect of this biochemical parameter on resin productivity in pine compared to other parameters studied has been established. It is suggested that the high resin productivity of mutant is the response of the organism to metabolic disbalance caused by the mutant genes.

  13. Molecular cytogenetics of cutaneous melanocytic lesions - diagnostic, prognostic and therapeutic aspects.

    Science.gov (United States)

    Blokx, Willeke Am M; van Dijk, Marcory C R F; Ruiter, Dirk J

    2010-01-01

    This review intends to update current knowledge regarding molecular cytogenetics in melanocytic tumours with a focus on cutaneous melanocytic lesions. Advantages and limitations of diverse, already established methods, such as (fluorescence) in situ hybridization and mutation analysis, to detect these cytogenetic alterations in melanocytic tumours are described. In addition, the potential value of more novel techniques such as multiplex ligation-dependent probe amplification is pointed out. This review demonstrates that at present cytogenetics has mainly increased our understanding of the pathogenesis of melanocytic tumours, with an important role for activation of the mitogen-activated protein kinase (MAPK) signalling pathway in the initiation of melanocytic tumours. Mutations in BRAF (in common naevocellular naevi), NRAS (congenital naevi), HRAS (Spitz naevi) and GNAQ (blue naevi) can all cause MAPK activation. All these mutations seem early events in the development of melanocytic tumours, but by themselves are insufficient to cause progression towards melanoma. Additional molecular alterations are implicated in progression towards melanoma, with different genetic alterations in melanomas at different sites and with varying levels of sun exposure. This genetic heterogeneity in distinct types of naevi and melanomas can be used for the development of molecular tests for diagnostic purposes. However, at the moment only few molecular tests have become of diagnostic value and are performed in daily routine practice. This is caused by lack of large prospective studies on the diagnostic value of molecular tests including follow-up, and by the low prevalence of certain molecular alterations. For the future we foresee an increasing role for cytogenetics in the treatment of melanoma patients with the increasing availability of targeted therapy. Potential targets for metastatic melanoma include genes involved in the MAPK pathway, such as BRAF and RAS. More recently, KIT

  14. [Analysis of DNA and chromosome damage by the methods of molecular cytogenetics].

    Science.gov (United States)

    Arutiunian, R M; Oganesian, G G

    2011-01-01

    The main hybrid techniques of molecular cytogenetics are described. Methodological aspects of combination of fluorescence in situ hybridization (FISH) with the comet assay and micronuclei (MN) test are discussed along with results of their application to evaluate and locate DNA and chromosome damage in the genome. The experience of the authors with the application of FISH in combination with the comet assay and MN test are reported.

  15. Sample tracking in an automated cytogenetic biodosimetry laboratory for radiation mass casualties

    Energy Technology Data Exchange (ETDEWEB)

    Martin, P.R.; Berdychevski, R.E.; Subramanian, U.; Blakely, W.F. [Armed Forces Radiobiology Research Institute, Uniformed Services University of Health Sciences, 8901 Wisconsin Avenue, Bethesda, MD 20889-5603 (United States); Prasanna, P.G.S. [Armed Forces Radiobiology Research Institute, Uniformed Services University of Health Sciences, 8901 Wisconsin Avenue, Bethesda, MD 20889-5603 (United States)], E-mail: prasanna@afrri.usuhs.mil

    2007-07-15

    Chromosome-aberration-based dicentric assay is expected to be used after mass-casualty life-threatening radiation exposures to assess radiation dose to individuals. This will require processing of a large number of samples for individual dose assessment and clinical triage to aid treatment decisions. We have established an automated, high-throughput, cytogenetic biodosimetry laboratory to process a large number of samples for conducting the dicentric assay using peripheral blood from exposed individuals according to internationally accepted laboratory protocols (i.e., within days following radiation exposures). The components of an automated cytogenetic biodosimetry laboratory include blood collection kits for sample shipment, a cell viability analyzer, a robotic liquid handler, an automated metaphase harvester, a metaphase spreader, high-throughput slide stainer and coverslipper, a high-throughput metaphase finder, multiple satellite chromosome-aberration analysis systems, and a computerized sample-tracking system. Laboratory automation using commercially available, off-the-shelf technologies, customized technology integration, and implementation of a laboratory information management system (LIMS) for cytogenetic analysis will significantly increase throughput. This paper focuses on our efforts to eliminate data-transcription errors, increase efficiency, and maintain samples' positive chain-of-custody by sample tracking during sample processing and data analysis. This sample-tracking system represents a 'beta' version, which can be modeled elsewhere in a cytogenetic biodosimetry laboratory, and includes a customized LIMS with a central server, personal computer workstations, barcode printers, fixed station and wireless hand-held devices to scan barcodes at various critical steps, and data transmission over a private intra-laboratory computer network. Our studies will improve diagnostic biodosimetry response, aid confirmation of clinical triage, and

  16. Cytogenetics of the Brazilian Bolitoglossa paraensis (Unterstein, 1930) salamanders (Caudata, Plethodontidae)

    OpenAIRE

    Jéssica Barata da Silva; Pablo Suárez; Cleusa Yoshiko Nagamachi; Timothy Frederick Carter; Julio Cesar Pieczarka

    2014-01-01

    Plethodontid salamanders of genus Bolitoglossa constitute the largest and most diverse group of salamanders, including around 20% of living caudate species. Recent studies have indicated the occurrence of five recognized species in the Brazilian Amazon Rainforest. We present here the first cytogenetic data of a Brazilian salamander, which may prove to be a useful by contribution to the cytotaxonomy of the genus. Specimens were collected near the “type” locality (Utinga, Belém, PA, Brazil). Ch...

  17. Astylus variegatus (Coleoptera, Melyridae): Cytogenetic study of a population exposed to agrochemical products

    OpenAIRE

    Marielle Cristina Schneider; Bianca Pierina Carraro; Doralice Maria Cella; Rodrigo Rodrigues Matiello; Roberto Ferreira Artoni; Mara Cristina de Almeida

    2007-01-01

    In this work we describe the cytogenetic analyses performed in specimens of Astylus variegatus (Germar, 1824) collected in two localities: one area of natural vegetation and one of agricultural crops, where agrochemical products were used. Astylus variegatus had karyotypes with 2n(male) = 16+Xy p and 2n (female) = 16+XXp, with exclusively metacentric chromosomes. Pachytene spermatocytes showed synapsed autosomal bivalents and non-associated sex chromosomes. In diplotene, the autosomal bivalen...

  18. Comparative cytogenetics among populations of Astyanax altiparanae (Characiformes, Characidae, Incertae sedis)

    Science.gov (United States)

    2009-01-01

    Cytogenetic data are presented for Astyanax altiparanae populations from three Brazilian hydrographic systems. The chromosomal data obtained in A. altiparanae support the hypothesis of diploid number conservation. However, small differences in the karyotype formula and number of nucleolar organizer regions were observed in these populations. The apparent karyotypical similarity among the studied populations strongly suggests a close relationship among them with some chromosomal divergences due to gene flow restriction. PMID:21637456

  19. Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred.

    OpenAIRE

    Zatterale, A.; Stabile, M; Nunziata, V; Di Giovanni, G.; Vecchione, R; Ventruto, V

    1984-01-01

    This report describes the clinical and cytogenetic analysis of a kindred with multiple endocrine neoplasia type 2 (MEN-2 or Sipple's syndrome) in two generations. Medullary thyroid carcinoma was present in five members either as a large or as an occult tumour. Phaeochromocytoma was demonstrated in one severely hypertensive relative and urine vanillylmandelic acid (VMA) was increased in one normotensive member. Serum parathormone (PTH) was normal in all but one normocalcaemic patient of this f...

  20. An integrated molecular cytogenetic map of Cucumis sativus L. chromosome 2

    Directory of Open Access Journals (Sweden)

    Huang Sanwen

    2011-01-01

    Full Text Available Abstract Background Integration of molecular, genetic and cytological maps is still a challenge for most plant species. Recent progress in molecular and cytogenetic studies created a basis for developing integrated maps in cucumber (Cucumis sativus L.. Results In this study, eleven fosmid clones and three plasmids containing 45S rDNA, the centromeric satellite repeat Type III and the pericentriomeric repeat CsRP1 sequences respectively were hybridized to cucumber metaphase chromosomes to assign their cytological location on chromosome 2. Moreover, an integrated molecular cytogenetic map of cucumber chromosomes 2 was constructed by fluorescence in situ hybridization (FISH mapping of 11 fosmid clones together with the cucumber centromere-specific Type III sequence on meiotic pachytene chromosomes. The cytogenetic map was fully integrated with genetic linkage map since each fosmid clone was anchored by a genetically mapped simple sequence repeat marker (SSR. The relationship between the genetic and physical distances along chromosome was analyzed. Conclusions Recombination was not evenly distributed along the physical length of chromosome 2. Suppression of recombination was found in centromeric and pericentromeric regions. Our results also indicated that the molecular markers composing the linkage map for chromosome 2 provided excellent coverage of the chromosome.

  1. Molecular prognostic markers for adult acute myeloid leukemia with normal cytogenetics

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    Gregory Tara K

    2009-06-01

    Full Text Available Abstract Acute myeloid leukemia (AML is a heterogenous disorder that results from a block in the differentiation of hematopoietic progenitor cells along with uncontrolled proliferation. In approximately 60% of cases, specific recurrent chromosomal aberrations can be identified by modern cytogenetic techniques. This cytogenetic information is the single most important tool to classify patients at their initial diagnosis into three prognostic categories: favorable, intermediate, and poor risk. Currently, favorable risk AML patients are usually treated with contemporary chemotherapy while poor risk AML patients receive allogeneic stem cell transplantation if suitable stem cell donors exist. The largest subgroup of AML patients (~40% have no identifiable cytogenetic abnormalities and are classified as intermediate risk. The optimal therapeutic strategies for these patients are still largely unclear. Recently, it is becoming increasingly evident that it is possible to identify a subgroup of poorer risk patients among those with normal cytogenic AML (NC-AML. Molecular risk stratification for NC-AML patients may be possible due to mutations of NPM1, FLT3, MLL, and CEBPα as well as alterations in expression levels of BAALC, MN1, ERG, and AF1q. Further prospective studies are needed to confirm if poorer risk NC-AML patients have improved clinical outcomes after more aggressive therapy.

  2. Study of clinical, haematological and cytogenetic profile of patients with acute erythroid leukaemia

    Science.gov (United States)

    Linu, Jacob Abraham; Udupa, MS Namratha; Madhumathi, DS; Lakshmaiah, KC; Babu, K Govind; Lokanatha, D; Babu, MC Suresh; Lokesh, KN; Rajeev, LK; Rudresha, AH

    2017-01-01

    Background Acute erythroid leukaemia (AEL) is a rare subtype of acute myeloid leukaemia (AML), constituting cytogenetic profile of this disease, considering the rarity of its occurrence and poor prognosis. Materials and methods This study was done by retrospective analysis of data from 32 case files of patients diagnosed with AEL. Clinical details noted down were the demographic profile, peripheral blood smear details and bone marrow examination details: (1) blasts-erythroblasts and myeloblasts, (2) dysplasia in the cell lineages and (3) cytogenetic abnormalities. Results The most common presenting symptom was fever. Pancytopenia at presentation was seen in 81.25% of patients. Dysplasia was observed in bone marrow in 100% of erythroblasts and in 40% of myeloblasts in erythroid/myeloid subtype. In pure myeloid subtype, myeloid and megakaryocytic dysplasias were not obvious. Complex karyotype was noticed only in patients of pEL. Conclusion AEL is a rare group of heterogeneous diseases with many neoplastic and non-neoplastic conditions mimicking the diagnosis. The clinical presentation and cytogenetics are also non-specific, presenting additional challenges to the diagnosis. PMID:28144286

  3. Efficacy of lenalidomide in patients with chronic lymphocytic leukemia with high-risk cytogenetics.

    Science.gov (United States)

    Sher, Taimur; Miller, Kena C; Lawrence, David; Whitworth, Amy; Hernandez-Ilizaliturri, Francisco; Czuczman, Myron S; Miller, Austin; Lawrence, William; Bilgrami, Syed Ali; Sood, Raman; Wood, Margaret T; Block, Annemarie W; Lee, Kelvin; Chanan-Khan, Asher Alban

    2010-01-01

    Patients with chronic lymphocytic lymphoma (CLL) with high-risk cytogenetics [del(11q)(q22.3) or del(17p)(p13.1)] have limited therapeutic options and their prognosis remains poor. This analysis was conducted to determine the clinical activity of lenalidomide in patients with high-risk disease. Relapsed/refractory patients with CLL enrolled in a phase II clinical trial who had del(11q)(q22.3) or del(17p)(p13.1) were included in this analysis. Patients received single agent lenalidomide for 21 days of the 4 week treatment cycle. The overall response rate among patients with high-risk cytogenetics was 38%, with 19% of patients achieving a complete response. Median progression-free survival was 12.1 months, which is higher than demonstrated with other agents in comparable patient populations. In addition, the estimated 2-year survival probability was 58%, demonstrating that the responses achieved with lenalidomide are durable, even in patients with CLL with high-risk disease with poor risk cytogenetics.

  4. Conventional and molecular cytogenetic diagnostic methods in stem cell research: a concise review.

    Science.gov (United States)

    Catalina, Purificación; Cobo, Fernando; Cortés, José L; Nieto, Ana I; Cabrera, Carmen; Montes, Rosa; Concha, Angel; Menendez, Pablo

    2007-09-01

    Regenerative medicine and cell therapy are emerging clinical disciplines in the field of stem cell biology. The most important sources for cell transplantation are human embryonic and adult stem cells. The future use of these human stem cell lines in humans requires a guarantee of exhaustive control with respect to quality control, safety and traceability. Genetic instability and chromosomal abnormalities represent a potential weakness in basic studies and future therapeutic applications based on these stem cell lines, and may explain, at least in part, their usual tumourigenic properties. So, the introduction of the cytogenetic programme in the determination of the chromosomal stability is a key point in the establishment of the stem cell lines. The aim of this review is to provide readers with an up-to-date overview of all the cytogenetic techniques, both conventional methods and molecular fluorescence methods, to be used in a stem cell bank or other stem cell research centres. Thus, it is crucial to optimize and validate their use in the determination of the chromosomal stability of these stem cell lines, and assess the advantages and limitations of these cutting-edge cytogenetic technologies.

  5. FISH and GISH: molecular cytogenetic tools and their applications in ornamental plants.

    Science.gov (United States)

    Younis, Adnan; Ramzan, Fahad; Hwang, Yoon-Jung; Lim, Ki-Byung

    2015-09-01

    The innovations in chromosome engineering have improved the efficiency of interrogation breeding, and the identification and transfer of resistance genes from alien to native species. Recent advances in molecular biology and cytogenetics have brought revolutionary, conceptual developments in mitosis and meiosis research, chromosome structure and manipulation, gene expression and regulation, and gene silencing. Cytogenetic studies offer integrative tools for imaging, genetics, epigenetics, and cytological information that can be employed to enhance chromosome and molecular genomic research in plant taxa. In situ hybridization techniques, such as fluorescence in situ hybridization (FISH) and genomic in situ hybridization (GISH), can identify chromosome morphologies and sequences, amount and distribution of various types of chromatin in chromosomes, and genome organization during the metaphase stage of meiosis. Over the past few decades, various new molecular cytogenetic applications have been developed. The FISH and GISH techniques present an authentic model for analyzing the individual chromosome, chromosomal segments, or the genomes of natural and artificial hybrid plants. These have become the most reliable techniques for studying allopolyploids, because most cultivated plants have been developed through hybridization or polyploidization. Moreover, introgression of the genes and chromatin from the wild types into cultivated species can also be analyzed. Since hybrid derivatives may have variable alien chromosome numbers or chromosome arms, the use of these approaches opens new avenues for accurately identifying genome differences.

  6. Atlas of genetics and cytogenetics in oncology and haematology in 2013.

    Science.gov (United States)

    Huret, Jean-Loup; Ahmad, Mohammad; Arsaban, Mélanie; Bernheim, Alain; Cigna, Jérémy; Desangles, François; Guignard, Jean-Christophe; Jacquemot-Perbal, Marie-Christine; Labarussias, Maureen; Leberre, Vanessa; Malo, Anne; Morel-Pair, Catherine; Mossafa, Hossein; Potier, Jean-Claude; Texier, Guillaume; Viguié, Franck; Yau Chun Wan-Senon, Sylvie; Zasadzinski, Alain; Dessen, Philippe

    2013-01-01

    The Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://AtlasGeneticsOncology.org) is a peer-reviewed internet journal/encyclopaedia/database focused on genes implicated in cancer, cytogenetics and clinical entities in cancer and cancer-prone hereditary diseases. The main goal of the Atlas is to provide review articles that describe complementary topics, namely, genes, genetic abnormalities, histopathology, clinical diagnoses and a large iconography. This description, which was historically based on karyotypic abnormalities and in situ hybridization (fluorescence in situ hybridization) techniques, now benefits from comparative genomic hybridization and massive sequencing, uncovering a tremendous amount of genetic rearrangements. As the Atlas combines different types of information (genes, genetic abnormalities, histopathology, clinical diagnoses and external links), its content is currently unique. The Atlas is a cognitive tool for fundamental and clinical research and has developed into an encyclopaedic work. In clinical practice, it contributes to the cytogenetic diagnosis and may guide treatment decision making, particularly regarding rare diseases (because they are numerous and are frequently encountered). Readers as well as the authors of the Atlas are researchers and/or clinicians.

  7. Cytogenetic Study in Children with Down Syndrome Among Kosova Albanian Population Between 2000 and 2010

    Science.gov (United States)

    Kolgeci, Selim; Kolgeci, Jehona; Azemi, Mehmedali; Shala-Beqiraj, Ruke; Gashi, Zafer; Sopjani, Mentor

    2013-01-01

    Conflict of interest: none declared. Aim The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. Methods Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. Results In the time period 2000-2010 cytogenetics diagnosis of overall 305 children with Down syndrome has been realized. Of which in 285 children (93.4%) were found free trisomy 21 (regular type), and in three other children (~1.0%) were detected mosaic trisomy 21. Translocation trisomy 21 was detected in 17 children (5.6%), of which in 14 children it occurred de novo translocation, whereas in 3 other children translocation has been inherited by a parent translocation carrier. The highest number of children with Trisomy 21 due to translocation was caused by Robertsonian translocation created by a fusion of two homologous chromosomes 21 (3.3%). Analysis showed that the number of children born with Down’s syndrome, from 2000 to 2010, was not decreasing among the Kosova Albanian population. Conclusion Down syndrome resulted by an extra free chromosome 21 is the most common genetic cause for that condition. Robertsonian translocations present in Down syndrome children often are de novo or inherited from a carrier parent with translocation. PMID:24082839

  8. Cytogenetic Abnormalities in Lymphocytes from Victims Exposed to Cobalt-60 Radiation

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    Sai Jun Fan

    2013-08-01

    Full Text Available The present study investigates cytogenetic damage in lymphocytes, derived from three victims who were unfortunately exposed to cobalt-60 (60Co radiation (the 1999 accident occurred in a village in China’s Henan province. Case A of the three victims was exposed to a higher dose of 60Co radiation than Cases B and C. The chromosomal aberrations, cytokinesis-block micronucleus (CBMN, the CBMN assay, and DNA double-strand breaks (DSBs, the comet assay examined in this study are biomarkers for cytogenetic abnormalities. After the lymphocytes collected from the victims were cultured, the frequencies of dicentric chromosomes and rings (dic + r and CBMN in the first mitotic division detected in the lymphocytes of Case A were found to be substantially higher than in Cases B and C. Similarly, the DNA-DSB level found in the peripheral blood collected from Case A was much higher than those of Cases B and C. These results suggest that an acutely enhanced induction of the 60Co-induced cytogenetic abnormality frequency in humans depends on the dose of 60Co radiation. This finding is supported by the data obtained using practical techniques to evaluate early lymphoid-tissue abnormalities induced after exposure to acute radiation.

  9. Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics.

    Directory of Open Access Journals (Sweden)

    Ruth B Lathi

    Full Text Available PURPOSE: The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP. This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. METHODS: Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing. RESULTS: Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days. CONCLUSIONS: Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis.

  10. Cytogenetic Profile of Unknown Primary Tumors: Clues for Their Pathogenesis and Clinical Management

    Directory of Open Access Journals (Sweden)

    Dimitra Pantou

    2003-01-01

    Full Text Available Unknown primary tumors (UPTs represent an entity of great clinical and biological interest, whose origin cannot be determined even after medical workup. To better understand their pathogenesis by outlining their genetic composition, 20 UPTs were investigated by G-banding, supplemented with Fluorescence In Situ Hybridization and Comparative Genomic Hybridization analyses. The data obtained were sufficient to reach a diagnosis in five cases—four lymphomas and one Ewing sarcoma—demonstrating that in a subset of UPTs, cytogenetics can be an adjunct for differential diagnosis. In the remaining 15 UPTs, an aggressive cytogenetic pattern was revealed. The most frequently rearranged chromosome regions were 1q21, 3p13, 6q15-23, 7q22, 11p12-5, and 11q14-24, pinpointing gene loci probably associated with the peculiar pathogenesis of UPTs. The preferential involvement of 4q31, 6q15, 10q25, and 13q22 in adenocarcinomas (whereas 11q22 is involved in the rest of the carcinomas—in addition to the marked divergence in the mean average of chromosomal changes, 16 and 3, respectivelydemonstrates genotypic differences between the two histologic subgroups. Furthermore, the significantly shorter survival in cases displaying massive chromosome changes compared with those having a few changes indicates that the cytogenetic pattern might be used as a tool to assess prognosis in UPTs, even without the detection of their primary site.

  11. Extramedullary Manifestation in Multiple Myeloma Bears High Incidence of Poor Cytogenetic Aberration and Novel Agents Resistance

    Directory of Open Access Journals (Sweden)

    Xiaoyan Qu

    2015-01-01

    Full Text Available Extramedullary disease (EMD in multiple myeloma (MM patients is an uncommon event and more attention was directed toward the feature of these patients. Cytogenetic aberration is an important characteristic of MM and is associated with patients’ outcome. In this study, we aimed to compare the cytogenetic abnormality of patients with and without extramedullary manifestation, and to analyze the clinical outcomes of novel agents in EMD patients. We retrospectively investigated data from 41 MM patients. Our analyses showed del(17p13 in 31% of EMD versus 13% of medullary disease (P=0.03 and amp(1q21 in 55% versus 32% (P=0.019. No differences were shown in del(13q14 and t(4;14. 24/27 patients with EMD at diagnosis responded to the novel agents-containing regimens. However, when relapsed, 70% of patients did not benefit from the sequential use of novel agents as salvage therapy. In 14 patients who developed EMD at relapse phase, only 2 patients responded to novel agents therapy. Median overall survival of patients with extramedullary manifestations was 30 months, in comparison to 104 months for patients without EMD (P=0.002. Patients with extramedullary manifestation bore high incidence of poor cytogenetic aberration and novel agents resistance.

  12. Definition of the zebrafish genome using flow cytometry and cytogenetic mapping.

    Science.gov (United States)

    Freeman, Jennifer L; Adeniyi, Adeola; Banerjee, Ruby; Dallaire, Stephanie; Maguire, Sean F; Chi, Jianxiang; Ng, Bee Ling; Zepeda, Cinthya; Scott, Carol E; Humphray, Sean; Rogers, Jane; Zhou, Yi; Zon, Leonard I; Carter, Nigel P; Yang, Fengtang; Lee, Charles

    2007-06-27

    The zebrafish (Danio rerio) is an important vertebrate model organism system for biomedical research. The syntenic conservation between the zebrafish and human genome allows one to investigate the function of human genes using the zebrafish model. To facilitate analysis of the zebrafish genome, genetic maps have been constructed and sequence annotation of a reference zebrafish genome is ongoing. However, the duplicative nature of teleost genomes, including the zebrafish, complicates accurate assembly and annotation of a representative genome sequence. Cytogenetic approaches provide "anchors" that can be integrated with accumulating genomic data. Here, we cytogenetically define the zebrafish genome by first estimating the size of each linkage group (LG) chromosome using flow cytometry, followed by the cytogenetic mapping of 575 bacterial artificial chromosome (BAC) clones onto metaphase chromosomes. Of the 575 BAC clones, 544 clones localized to apparently unique chromosomal locations. 93.8% of these clones were assigned to a specific LG chromosome location using fluorescence in situ hybridization (FISH) and compared to the LG chromosome assignment reported in the zebrafish genome databases. Thirty-one BAC clones localized to multiple chromosomal locations in several different hybridization patterns. From these data, a refined second generation probe panel for each LG chromosome was also constructed. The chromosomal mapping of the 575 large-insert DNA clones allows for these clones to be integrated into existing zebrafish mapping data. An accurately annotated zebrafish reference genome serves as a valuable resource for investigating the molecular basis of human diseases using zebrafish mutant models.

  13. Definition of the zebrafish genome using flow cytometry and cytogenetic mapping

    Directory of Open Access Journals (Sweden)

    Zhou Yi

    2007-06-01

    Full Text Available Abstract Background The zebrafish (Danio rerio is an important vertebrate model organism system for biomedical research. The syntenic conservation between the zebrafish and human genome allows one to investigate the function of human genes using the zebrafish model. To facilitate analysis of the zebrafish genome, genetic maps have been constructed and sequence annotation of a reference zebrafish genome is ongoing. However, the duplicative nature of teleost genomes, including the zebrafish, complicates accurate assembly and annotation of a representative genome sequence. Cytogenetic approaches provide "anchors" that can be integrated with accumulating genomic data. Results Here, we cytogenetically define the zebrafish genome by first estimating the size of each linkage group (LG chromosome using flow cytometry, followed by the cytogenetic mapping of 575 bacterial artificial chromosome (BAC clones onto metaphase chromosomes. Of the 575 BAC clones, 544 clones localized to apparently unique chromosomal locations. 93.8% of these clones were assigned to a specific LG chromosome location using fluorescence in situ hybridization (FISH and compared to the LG chromosome assignment reported in the zebrafish genome databases. Thirty-one BAC clones localized to multiple chromosomal locations in several different hybridization patterns. From these data, a refined second generation probe panel for each LG chromosome was also constructed. Conclusion The chromosomal mapping of the 575 large-insert DNA clones allows for these clones to be integrated into existing zebrafish mapping data. An accurately annotated zebrafish reference genome serves as a valuable resource for investigating the molecular basis of human diseases using zebrafish mutant models.

  14. Atlas of Genetics and Cytogenetics in Oncology and Haematology in 2013

    Science.gov (United States)

    Huret, Jean-Loup; Ahmad, Mohammad; Arsaban, Mélanie; Bernheim, Alain; Cigna, Jérémy; Desangles, François; Guignard, Jean-Christophe; Jacquemot-Perbal, Marie-Christine; Labarussias, Maureen; Leberre, Vanessa; Malo, Anne; Morel-Pair, Catherine; Mossafa, Hossein; Potier, Jean-Claude; Texier, Guillaume; Viguié, Franck; Yau Chun Wan-Senon, Sylvie; Zasadzinski, Alain; Dessen, Philippe

    2013-01-01

    The Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://AtlasGeneticsOncology.org) is a peer-reviewed internet journal/encyclopaedia/database focused on genes implicated in cancer, cytogenetics and clinical entities in cancer and cancer-prone hereditary diseases. The main goal of the Atlas is to provide review articles that describe complementary topics, namely, genes, genetic abnormalities, histopathology, clinical diagnoses and a large iconography. This description, which was historically based on karyotypic abnormalities and in situ hybridization (fluorescence in situ hybridization) techniques, now benefits from comparative genomic hybridization and massive sequencing, uncovering a tremendous amount of genetic rearrangements. As the Atlas combines different types of information (genes, genetic abnormalities, histopathology, clinical diagnoses and external links), its content is currently unique. The Atlas is a cognitive tool for fundamental and clinical research and has developed into an encyclopaedic work. In clinical practice, it contributes to the cytogenetic diagnosis and may guide treatment decision making, particularly regarding rare diseases (because they are numerous and are frequently encountered). Readers as well as the authors of the Atlas are researchers and/or clinicians. PMID:23161685

  15. Molecular Cytogenetic Mapping of Satellite DNA Sequences in Aegilops geniculata and Wheat.

    Science.gov (United States)

    Koo, Dal-Hoe; Tiwari, Vijay K; Hřibová, Eva; Doležel, Jaroslav; Friebe, Bernd; Gill, Bikram S

    2016-01-01

    Fluorescence in situ hybridization (FISH) provides an efficient system for cytogenetic analysis of wild relatives of wheat for individual chromosome identification, elucidation of homoeologous relationships, and for monitoring alien gene transfers into wheat. This study is aimed at developing cytogenetic markers for chromosome identification of wheat and Aegilops geniculata (2n = 4x = 28, UgUgMgMg) using satellite DNAs obtained from flow-sorted chromosome 5Mg. FISH was performed to localize the satellite DNAs on chromosomes of wheat and selected Aegilops species. The FISH signals for satellite DNAs on chromosome 5Mg were generally associated with constitutive heterochromatin regions corresponding to C-band-positive chromatin including telomeric, pericentromeric, centromeric, and interstitial regions of all the 14 chromosome pairs of Ae. geniculata. Most satellite DNAs also generated FISH signals on wheat chromosomes and provided diagnostic chromosome arm-specific cytogenetic markers that significantly improved chromosome identification in wheat. The newly identified satellite DNA CL36 produced localized Mg genome chromosome-specific FISH signals in Ae. geniculata and in the M genome of the putative diploid donor species Ae. comosa subsp. subventricosa but not in Ae. comosa subsp. comosa, suggesting that the Mg genome of Ae. geniculata was probably derived from subsp. subventricosa.

  16. Molecular cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae

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    Minglan Guo

    2014-06-01

    Full Text Available Genus Epinephelus (Perciformes, Epinephelidae, commonly known as groupers, are usually difficult in species identification for the lack and/or change of morphological specialization. In this study, molecular cytogenetic analyses were firstly performed to identify the closely related species Epinephelus bruneus and E. moara in this genus. The species-specific differences of both fish species showed in karyotype, chromosomal distribution of nucleolar organizer regions (NORs and localization of 18S rDNA. The heterochromatin (interstitial C-bands and distribution pattern of telomere (TTAGGGn in E. bruneus revealed the chromosomal rearrangements and different karyotypic evolutionary characteristics compared to those in E. moara. The cytogenetic data suggested that the lineages of E. bruneus and E. moara were recently derived within the genus Epinephelus, and E. moara exhibited more plesiomorphic features than E. bruneus. All results confirmed that E. moara, which has long been considered a synonym of E. bruneus, is a distinct species in the family Epinephelidae. In addition, molecular cytogenetic analyses are useful in species differentiation and phylogenetic reconstruction in groupers.

  17. Cytogenetic Prenatal Diagnosis in the Province of Cienfuegos between 2007 and 2010

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    Pedro Alí Díaz-Véliz Jiménez

    2012-11-01

    Full Text Available Background: cytogenetic prenatal diagnosis is nowadays part of the care provided in developed countries to high-risk pregnant women and is an indispensable component of preventive genetic programs driven by the World Health Organization. Objective: To present the results of cytogenetic prenatal diagnosis in the province of Cienfuegos. Methods: A chronological series study was developed at the Provincial Center of Medical Genetics of Cienfuegos on all cytogenetic prenatal diagnoses that were performed between 2007 and 2010. We analyzed causes of study, number of diagnoses and types of anomalies detected. Results: during the period analyzed, 1172 amniocentesis of pregnant patients were processed and 1076 of them were diagnosed for 91, 81 % efficiency. 85,5 % of the cases studied were women over 37 years old. 32 chromosomal abnormalities were detected. The order of frequency of chromosomal abnormalities among the positive cases was: numerical aberrations (65, 63 %, structural aberrations (18, 75 % and mosaics (15,63 %. The most common chromosomal abnormality was Down syndrome with 46,88 % of total aberrations detected. Conclusions: the indicators analyzed behave similarly to those reported in literature both from our country or international.

  18. A preliminary investigation: the impact of microscopic condenser on depth of field in cytogenetic imaging

    Science.gov (United States)

    Ren, Liqiang; Qiu, Yuchen; Li, Zheng; Li, Yuhua; Zheng, Bin; Li, Shibo; Chen, Wei R.; Liu, Hong

    2013-02-01

    As one of the important components of optical microscopes, the condenser has a considerable impact on system performance, especially on the depth of field (DOF). DOF is a critical technical feature in cytogenetic imaging that may affect the efficiency and accuracy of clinical diagnosis. The purpose of this study is to investigate the influence of microscopic condenser on DOF using a prototype of transmitted optical microscope, based on objective and subjective evaluations. After the description of the relationship between condenser and objective lens and the theoretical analysis of the condenser impact on system numerical aperture and DOF, a standard resolution pattern and several cytogenetic samples are adopted to assess the condenser impact on DOF, respectively. The experimental results of these objective and subjective evaluations are in agreement with the theoretical analysis and show that, under the specific intermediate range of condenser numerical aperture ( NAcond ), the DOF value decreases with the increase of NAcond . Although the above qualitative results are obtained under the experimental conditions with a specific prototype system, the methods presented in this preliminary investigation could offer useful guidelines for optimizing operational parameters in cytogenetic imaging.

  19. Application of Molecular Cytogenetic Technique for Rapid Prenatal Diagnosis of Aneuploidies in Iranian Population

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    Habib Nasiri

    2009-06-01

    Full Text Available Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR markers has more potential for high throughput diagnosis. Marker heterozygosity in short tandem repeats (STR is of critical importance in the clinical applicablity of this method. Materials and Methods: Different STR markers on chromosomes 13, 18, 21, X and Y  were analysed from  amniotic samples to detect related disorders such as Down, Edward, Patau,  Klinefelter sundromes , as well as sex chromosomes numerical abnormalities . Results: In our population some markers (D18S976, DXS6854, D21S11, and D21S1411 showed alleles with sizes out of expected ranges. But others occupied narrower range of predicted distribution. Most markers have enough heterozygosity (66.3-94.7 to be used for prenatal diagnosis. Furthermore, results obtained from full karyotype for all samples were in concordance with results of molecular cytogenetic testing. Conclusion: It is concluded that, in urgent situations, if proper markers used, molecular cytogenetic testing (QF-PCR could be a useful method for rapid prenatal diagnosis (PND in populations with high rate of consanguinity such as Iran.  

  20. Prognostic power of abnormal cytogenetics for multiple myeloma:a multicenter study in China

    Institute of Scientific and Technical Information of China (English)

    LAI Yue-yun; FU Wei-ling; GUO Hai-ying; HOU Ming; HOU Jian; HU Yu; HU Xiao-tong; HU Xiao-mei; HUANG Li-qiang; JIN Jie; LI Jian-yong; HUANG Xiao-jun; LI Juan; Li Wei; LIANG Ying-min; LIU Ting; LIU Qi-fa; LIU Yan-hui; MAO Ping; OUYANG Jian; QIU Lu-gui; QIU Lin; CAI Zhen; SHAO Chun-kui; SHI Bin; SONG Yong-ping; SUN Zi-min; WANG Qi-shan; WANG Chun; WANG Jian-ming; WANG Yun-shan; WANG Zhao; WU Jian-bo; CAO Xiang-shan; WU Yin-xia; XIA Rui-xiang; XUE Yong-quan; YANG Bao-zhen; YANG Guang; YANG Zheng-lin; YU Li; YUAN Zhong; ZHANG Sheng; ZHANG Yin; CHEN Fang-ping; ZHAO Hong-guo; ZHAO Li; ZHOU Dao-bin; ZOU Shan-hua; ZHU Yun-feng; CHEN Xie-qun; CHEN Bao-an; FANG Mei-yun; FENG Jia-fu

    2012-01-01

    Background Chromosomal abnormalities have been shown to play an important prognostic role in multiple myeloma (MM).tnterphase fluorescence in situ hybridization (i-FISH) has been much more effective to identify cytogenetic aberrations in MM than conventional cytogenetic technique (CC).To clearly determine the cytogenetic features of Chinese MM patients and identify their prognostic implications,we designed a multicenter study based on i-FISH including 672 patients from 52 hospitals in China.Methods All 672 patients were systematically screened for the following genomic aberrations:del(13q).lgHrearrangement,del(p53) and 1q21 amplifications.Results The analysis showed that the chromosomal changes were detected in 22.1% patients by CC and in 82.3%patients by i-FISH.The most common abnormalities by CC were chromosome 1 aberrations (48.4%),-13/13q- (37.6%),hyperdiploidy (36.6%),hypodiploidy (30.1%) and lgH rearrangements (23.7%).The most frequent abnormalities by FISH was del(13q),which was found in 60.4% patients.whereas IgH rearrangement,1q21 amplification and p53 deletions were detected in 57.6%,49.0% and 34.7% cases.respectively.By statistical analysis.-13/13q- by CC was associated with low level of platelet (P=0.015).hyperdiploidy was associated with low level of serum albumin (P=0.028),and lgH rearrangement by FISH was associated with high level of β32 microglobulin (P=0.019).Moreover,1q21 amplification and del(p53) by FlSH conferred a high incidence of progressive disease (PD) after initial therapy.Metaphase detection of lgH rearrangements and chromosome 1 aberrations concurrently was associated with a short progression free survival (PFS)(P=0.036).No significant prognostic implications of other cytogenetic abnormalities were found associated with overall survival and PFS.Conclusions Chinese MM patients had similar cytogenetic abnormalities compared with the previous reported studies.However,the prognostic significance of FISH aberrations

  1. Acute myeloid leukemia: conventional cytogenetics, FISH, and moleculocentric methodologies.

    Science.gov (United States)

    Morrissette, Jennifer J D; Bagg, Adam

    2011-12-01

    Acute myeloid leukemia (AML) is a complex group of hematologic neoplasms characterized by distinctive morphologic, immunophenotypic, and genetic abnormalities. However, it has become evident that genetic aberrations are central to the genesis of AML and have assumed an increasingly relevant role in the classification of AML. Here we discuss hallmark recurrent translocations that define specific World Health Organization (WHO) entities and other frequently encountered genetic aberrations that do not (yet) define specific entities. Additionally, we discuss emerging technologies and their application to the discovery of new abnormalities and to their potential role in the future diagnosis and classification of AML.

  2. Karyotypic characterization of Capsicum sp. accessions

    OpenAIRE

    Willame Rodrigues do Nascimento Souza; Angela Celis de Almeida; Reginaldo de Carvalho; Regina Lúcia Ferreira; Ana Paula Peron

    2015-01-01

    This study aimed to determine the chromosome number and the karyotype of Capsicum annuum, Capsicum chinense, Capsicum frutencens and Capsicum baccatum accessions in the active Capsicum sp. genebank at the Federal University of Piauí (BGC-UFPI). These species have great economic importance throughout the world, and their cytogenetic characterization can inform taxonomy and lead to improvement in the genus. Karyotypes were obtained from the rootlet meristems of the studied accessions using...

  3. Cytogenetic data on six leafcutter ants of the genus Acromyrmex Mayr, 1865 (Hymenoptera, Formicidae, Myrmicinae): insights into chromosome evolution and taxonomic implications.

    Science.gov (United States)

    Barros, Luísa Antônia Campos; de Aguiar, Hilton Jeferson Alves Cardoso; Mariano, Cléa Dos Santos Ferreira; Andrade-Souza, Vanderly; Costa, Marco Antonio; Delabie, Jacques Hubert Charles; Pompolo, Silvia das Graças

    2016-01-01

    Cytogenetic data for the genus Acromyrmex Mayr, 1865 are available, to date, for a few species from Brazil and Uruguay, which have uniform chromosome numbers (2n = 38). The recent cytogenetic data of Acromyrmex striatus (Roger, 1863), including its banding patterns, showed a distinct karyotype (2n = 22), similar to earlier studied Atta Fabricius, 1804 species. Karyological data are still scarce for the leafcutter ants and many gaps are still present for a proper understanding of this group. Therefore, this study aimed at increasing cytogenetic knowledge of the genus through the characterization of other six species: Acromyrmex balzani (Emery, 1890), Acromyrmex coronatus Fabricius, 1804, Acromyrmex disciger (Mayr, 1887), Acromyrmex echinatior (Forel, 1899), Acromyrmex niger (Smith, 1858) and Acromyrmex rugosus (Smith, 1858), all of which were collected in Minas Gerais - Brazil, except for Acromyrmex echinatior which was collected in Barro Colorado - Panama. The number and morphology of the chromosomes were studied and the following banding techniques were applied: C-banding, fluorochromes CMA3 and DAPI, as well as the detection of 45S rDNA using FISH technique. All the six species had the same chromosome number observed for already studied species, i.e. 2n = 38. Acromyrmex balzani had a different karyotype compared with other species mainly due to the first metacentric pair. The heterochromatin distribution also showed interspecific variation. Nevertheless, all the studied species had a pair of bands in the short arm of the first subtelocentric pair. The fluorochrome CMA3 visualized bands in the short arm of the first subtelocentric pair for all the six species, while Acromyrmex rugosus and Acromyrmex niger also demonstrated in the other chromosomes. The AT-rich regions with differential staining using DAPI were not observed. 45S ribosomal genes were identified by FISH in the short arm of the first subtelocentric pair in Acromyrmex coronatus, Acromyrmex disciger and

  4. CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens

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    MacKinnon Ruth N

    2012-02-01

    Full Text Available Abstract Background The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and are a potential source of total genomic DNA for array karyotyping and other applications. Array CGH using DNA from fixed cytogenetic preparations has been described, but it is not known whether it can be used for SNP arrays. Diagnostic bone marrow specimens taken during the assessment of hematological malignancies are also a potential source of DNA, but it is generally assumed that DNA must be extracted, or the specimen frozen, within a day or two of collection, to obtain DNA suitable for further analysis. We have assessed DNA extracted from these materials for both SNP array and array CGH. Results We show that both SNP array and array CGH can be performed on genomic DNA extracted from cytogenetic specimens stored in Carnoy's fixative, and from bone marrow which has been stored unfrozen, at 4°C, for at least 36 days. We describe a procedure for extracting a usable concentration of total genomic DNA from cytogenetic suspensions of low cellularity. Conclusions The ability to use these archival specimens for DNA-based analysis increases the potential for retrospective genetic analysis of clinical specimens. Fixed cytogenetic preparations and long-term refrigerated bone marrow both provide DNA suitable for array karyotyping, and may be suitable for a wider range of analytical procedures.

  5. [Comparative cytogenetic analysis of hexaploid Avena L. species].

    Science.gov (United States)

    Badaeva, E D; Shelukhina, O Iu; Dedkova, O S; Loskutov, I G; Pukhal'skiĭ, V A

    2011-06-01

    Using C-banding method and in situ hybridization with the 45S and 5S rRNA gene probes, six hexaploid species of the genus Avena L. with the ACD genome constitution were studied to reveal evolutionary karyotypic changes. Similarity in the C-banding patterns of chromosomal and in the patterns of distribution of the rRNA gene families suggests a common origin of all hexaploid species. Avena fatua is characterized by the broadest intraspecific variation of the karyotype; this species displays chromosomal variants typical of other hexaploid species of Avena. For instance, a translocation with the involvement of chromosome 5C marking A. occidentalis was discovered in many A. fatua accessions, whereas in other representatives of this species this chromosome is highly similar to the chromosome of A. sterilis. Only A. fatua and A. sativa show slight changes in the morphology and in the C-banding pattern of chromosome 2C. These results can be explained either by a hybrid origin of A. fatua or by the fact that this species is an intermediate evolutionary form of hexaploid oats. The 7C-17 translocation was identified in all studied accessions of wild and weedy species (A. sterilis, A. fatua, A. ludoviciana, and A. occidentalis) and in most A. sativa cultivars, but it was absent in A. byzantina and in two accessions of A. sativa. The origin and evolution of the Avena hexaploid species are discussed in context of the results.

  6. Soybean chromosome painting: a strategy for somatic cytogenetics.

    Science.gov (United States)

    Shi, L; Zhu, T; Morgante, M; Rafalski, J A; Keim, P

    1996-01-01

    Cytological identification of soybean mitotic metaphase chromosomes (2n = 40) has been severely limited by their small size and uniform karyomorphology. We have developed fluorescent in situ hybridization (FISH), PCR-primed in situ labelling (PCR-PRINS) procedures, and molecular probes for routine cytological identification and for the physical mapping of soybean somatic chromosomes. Chromosome preparation has been achieved by modifications of previous protocols and through the preparation of root-tip protoplasts prior to chromosome spreading. Initially our probe selection focused on highly repeated DNAs that provide very intense localized hybridization signals. Repetitive gene probes that have proven valuable include the rDNA loci (5S and 45S) which are chromosome specific. We have also developed satellite DNA probes for two different sequence families: the SB92 and the STR120 satellites. Both of these are tandemly arranged at multiple chromosomal loci. By using different cloned examples of each family, we have been able to selectively label unique subsets of soybean chromosomes. Double hybridization with biotin and digoxigenin labeled probes has allowed us to determine the chromosomal overlap between different probes. In addition, we have joined portions of the metaphase chromosome painting patterns with the genetic map by single-copy FISH and PCR-PRINS detection of the RFLP loci G8.15, G17.3, and A199a and A199b. Total genomic DNA in situ hybridization (GISH) patterns were also used to characterize the soybean chromosomes.

  7. Cytogenetic findings in lung cancer that illuminate its biological history from adenomatous hyperplasia to bronchioalveolar carcinoma to adenocarcinoma: A case report.

    Science.gov (United States)

    Bettio, Daniela; Cariboni, Umberto; Venci, Anna; Valente, Marialuisa; Spaggiari, Paola; Alloisio, Marco

    2012-12-01

    The biological and chronological evolution of lung cancer remain to be fully elucidated. A multi-step carcinogenesis hypothesis suggests a progression from atypical adenomatous hyperplasia (AAH) through bronchioalveolar carcinoma (BAC) to invasive adenocarcinoma (AC), but to date this has not been formally demonstrated. We report a case of a patient diagnosed by computed tomography (CT) with lung cancer in the superior right lobe who also presented with a pure ground-glass opacity (GGO) in the inferior lobe, while the middle lobe appeared normal. Following pneumonectomy, cytogenetic analysis successfully performed on spontaneous metaphases obtained by the direct method from samples of the three lung lobes showed the presence of three clonal cell populations, each progressively having increased karyotype complexity. Fluorescence in situ hybridization (FISH), performed using ALK (2p23) break probe and ALK/EML4 t(2;2);inv(2) fusion probe, showed a normal pattern for all specimens. Histological evaluation confirmed the presence of AC in the superior right lobe and classified the GGO lesion as BAC and the normal tissue of the middle lobe as AAH. To the best of our knowledge, this is the first case in which the cytogenetic study of spontaneous metaphases showed a clear clonal relationship among AC, BAC and AAH present simultaneously in different lobes of the same lung. This case appears to indicate that the entire lung was somehow predisposed to a neoplastic transformation starting with a diffuse AAH characterized by high proliferative activity. Moreover, the 5q13 region involved in the translocation shared by BAC and AC contains at least 4 genes encoding important regulators of the cell cycle that may be considered new molecular markers of lung cancer.

  8. Radiation-induced cytogenetic and hematologic effects on aquatic biota within the Chernobyl exclusion zone

    Energy Technology Data Exchange (ETDEWEB)

    Gudkov, Dmitri I.; Shevtsova, Natalia L.; Pomortseva, Natalia A.; Kaglyan, Alexander Ye. [Institute of Hydrobiology, Geroyev Stalingrada Ave. 12, UA-04210 Kiev (Ukraine); Dzyubenko, Elena V. [G. Skovoroda Pereyaslav-Khmelnitsk State Teacher Training University, Sukhomlinskogo Str. 30, UA-08401 Pereyaslav-Khmelnitsk (Ukraine); Rodionova, Natalia K. [R.E. Kavetsky Institute of Experimental Pathology, Oncology and Radiobiology, Vasilkovskaya Str. 45, UA-04073 Kiev (Ukraine); Nazarov, Alexander B. [Chernobyl Specialized Enterprise, Radyanska Str. 70, UA-07270 Chernobyl (Ukraine)

    2014-07-01

    During 1998-2013 we studied the rate of chromosomal aberrations in embryo tissues of the pond snails and root meristems of higher aquatic plants, and also hematologic indexes of mantle liquid of the snails and peripheral blood of fishes in water bodies with different levels of radioactive contamination within the Chernobyl exclusion zone (ChEZ). The absorbed dose rate for hydrobionts from water bodies of the ChEZ during the period of researches registered in a range of 4.6.10{sup -3} - 3.4 Gy year{sup -1}, and in the control water bodies - up to 1.7.10{sup -3} Gy year{sup -1}. Cytogenetic analysis of embryos of the pond snail Lymnaea stagnalis testifies the increased level of chromosomal aberrations in the mollusks from stagnant water bodies of the ChEZ in comparison with control reservoirs. During the period of studies the highest values were registered for the snails of closed reservoirs of the ChEZ (Glubokoye Lake, Dalyokoe Lake, Azbuchin Lake etc.) where the rate of chromosomal aberrations was registered within range of 18-27%, that on the average more than in 10 times exceeds the spontaneous mutagenesis level for aquatic species. The pond snails of river ecosystems were characterized by the low level of aberrant cells - 2.5-3.5%. For the mollusks from the control lakes this index was reached on the average 1.5% with the maximal values 2.3%. The positive correlation between chromosomal aberration rate and absorbed dose rate in the pond snails' embryos in water bodies of the ChEZ was registered. The rate of chromosomal aberrations in root meristematic cells of higher aquatic plants (Phragmites australis, Stratiotes aloides, Glyceria maxima, Butomus umbellatus, Sparganium erectum and Sagittaria sagittifolia) from the most contaminated lakes of the ChEZ was in range of 7-17%. In the plants of rivers this index was on the average 3.5-5.0%, and was not exceed 2.6% in control water bodies. Thus, the rate of chromosomal aberrations in hydrobionts of the stagnant

  9. Valor do estudo citogenetico no transexualismo Value of cytogenetic study in transsexualism

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    P. H. Saldanha

    1976-09-01

    Full Text Available O transexualismo é caracterizado como uma entidade psiquiátrica, distinta do homossexualismo e travestismo, revendo-se suas manifestações sindrômicas. Discutem-se as duas principais causas etiológicas plausíveis do transexualismo, a saber: a hipótese psicoanalítica fundamentada na regressão psicossexual com estampagem da figura materna e o modelo neuro-endócrino que pressupõe alterações nos centros de identidade sexual do hipotámo. Com base nesta última explicação propõe-se, a exemplo do que parece ocorrer na síndrome de Morris, cujas células (XY não respondem ao efeito masculinizante da testosterona plasmática, que os transexuais devem possuir mosaicismo detectável ou críptico, quanto aos cromossomos sexuais, nos centros hipotalâmicos de identidade sexual que não respondem à secreção androgênica produzida pela gônada primitiva. Esta possibilidade explicaria a excessiva prevalência da síndrome entre homens, bem como a sua manifestação com feições típicas no sexo masculino e ainda a ocorrência esporádica da síndrome. O estudo citogenético revelou que a frequência (32% de mosaicismo quanto aos cromossomos sexuais em 25 transexuais é estatisticamente superior aos valores observados em 14 homossexuais e 40 controles normais, nos quais a proporção de mosaicismo é praticamente nula. Considera-se a possibilidade do critério cariotípico constituir valioso subsídio na diagnose da síndrome.By reviewing the syndromic manifestation, transsexualism in characterized as a psychiatric entity, apart from homossexualism and transvestism. The two main feasible etiologic causes of transsexualism are discussed: the psychoanalytical hypothesis based upon psycossexual regression with imprinting of maternal figure and the neuroendocrine model which assumes alterations of the gender role identity centers in the hypothalamus. On the grounds of the latter explanation and after the scheme that seems to occur in the Morris

  10. Plant centromeric retrotransposons: a structural and cytogenetic perspective

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    Neumann Pavel

    2011-03-01

    Full Text Available Abstract Background The centromeric and pericentromeric regions of plant chromosomes are colonized by Ty3/gypsy retrotransposons, which, on the basis of their reverse transcriptase sequences, form the chromovirus CRM clade. Despite their potential importance for centromere evolution and function, they have remained poorly characterized. In this work, we aimed to carry out a comprehensive survey of CRM clade elements with an emphasis on their diversity, structure, chromosomal distribution and transcriptional activity. Results We have surveyed a set of 190 CRM elements belonging to 81 different retrotransposon families, derived from 33 host species and falling into 12 plant families. The sequences at the C-terminus of their integrases were unexpectedly heterogeneous, despite the understanding that they are responsible for targeting to the centromere. This variation allowed the division of the CRM clade into the three groups A, B and C, and the members of each differed considerably with respect to their chromosomal distribution. The differences in chromosomal distribution coincided with variation in the integrase C-terminus sequences possessing a putative targeting domain (PTD. A majority of the group A elements possess the CR motif and are concentrated in the centromeric region, while members of group C have the type II chromodomain and are dispersed throughout the genome. Although representatives of the group B lack a PTD of any type, they appeared to be localized preferentially in the centromeres of tested species. All tested elements were found to be transcriptionally active. Conclusions Comprehensive analysis of the CRM clade elements showed that genuinely centromeric retrotransposons represent only a fraction of the CRM clade (group A. These centromeric retrotransposons represent an active component of centromeres of a wide range of angiosperm species, implying that they play an important role in plant centromere evolution. In addition, their

  11. In vivo and in vitro Cytogenetic Effect of Supermethrin

    Institute of Scientific and Technical Information of China (English)

    J.DIANOVSKY; K.SIVIKOVA

    1995-01-01

    The sythetic pryethroid insecticide supermethrin(RS)-alpha-cyano-3-phenoxybenzyl-(1RS)-cis-3(2,2-dichlorvinyl)-2,2-dimethyl cyklpropane carboxylate,was tested for its clastogenic abilit by in vivo and in vitro assays.In vivo assay consisted of chromosome analysis in sheep bone marrow cells after six weeks subchronic oral administration of 200mg/kgor 300mg/kg.The results were compared to induction of chromosome aberrations(CA)in mouse bone marrow cells after acute ip administration of supermethrin in the range 1/2 to 1/10 LD50.Small statistically insignificant increases of CA were found up to 1/2 LD50 dose for mice.Cultured sheep peripheral lymphocytes were used for in vitro clastogenicity evaluation.The final concentrations were 6×10-6mol·L-1,6×10-5mol·L-1 and 6×10-4mol·L-1.No significant differences were detectable in supermethrin's clastogenic potency at concentrations of 6×10-6mol·l-1 and 6×10-5mol·L-1,respectively.The highest concentration was positive(P<0.05),and a decrease of mitotic index(MI0was also obsereved.Supermethrin was investigated for the induction of sister chromatid exchanges(SCE)in sheep peripheral lymphocytes,but inadequate results of genotoxic potency were found.The tested pyrethroid was characterized as rather toxic than clasogenic or genotoxic.

  12. Cytogenetic evaluation of gold nanorods using Allium cepa test.

    Science.gov (United States)

    Rajeshwari, A; Roy, Barsha; Chandrasekaran, Natarajan; Mukherjee, Amitava

    2016-12-01

    The current study reveals the impact of gold nanorods (NRs) capped with CTAB (cetyltrimethylammonium bromide) or PEG (polyethylene glycol) on Allium cepa. The morphology and surface charge of CTAB- and PEG-capped gold NRs were characterized by electron microscopic and zeta potential analyses. The chromosomal aberrations like clumped chromosome, chromosomal break, chromosomal bridge, diagonal anaphase, disturbed metaphase, laggard chromosome, and sticky chromosome were observed in the root tip cells exposed to different concentrations (0.1, 1, and 10 μg/mL) of CTAB- and PEG-capped gold NRs. We found that both CTAB- and PEG-capped gold NRs were able to induce toxicity in the plant system after 4-h interaction. At a maximum concentration of 10 μg/mL, the mitotic index reduction induced by CTAB-capped gold NRs was 40-fold higher than that induced by PEG-capped gold NRs. The toxicity of gold NRs was further confirmed by lipid peroxidation and oxidative stress analyses. The unbound CTAB also contributed to the toxicity in root tip cells, while PEG alone shows less toxicity to the cells. The vehicle control CTAB contributed to the toxic effects in root tip cells, while PEG alone did not show any toxicity to the cells. The results revealed that even though both the particles have adverse effects on A. cepa, there was a significant difference in the mitotic index and oxidative stress generation in root cells exposed to CTAB-capped gold NRs. Thus, this study concludes that the surface polymerization of gold NRs by PEG can reduce the toxicity of CTAB-capped gold NRs.

  13. Ozone Inhalation Leads to a Dose-Dependent Increase of Cytogenetic Damage in Human Lymphocytes

    Science.gov (United States)

    Holland, Nina; Davé, Veronica; Venkat, Subha; Wong, Hofer; Donde, Aneesh; Balmes, John R; Arjomandi, Mehrdad

    2014-01-01

    Ozone is an important constituent of ambient air pollution and represents a major public health concern. Oxidative injury due to ozone inhalation causes the generation of reactive oxygen species and can be genotoxic. To determine whether ozone exposure causes genetic damage in peripheral blood lymphocytes, we employed a well-validated cytokinesis-block micronucleus Cytome assay. Frequencies of micronuclei (MN) and nucleoplasmic bridges (NB) were used as indicators of cytogenetic damage. Samples were obtained from 22 non-smoking healthy subjects immediately before and 24-hr after controlled 4-hr exposures to filtered air, 100 ppb, and 200 ppb ozone while exercising in a repeated-measure study design. Inhalation of ozone at different exposure levels was associated with a significant dose-dependent increase in MN frequency (P < 0.0001) and in the number of cells with more than 1 MN per cell (P < 0.0005). Inhalation of ozone also caused an increase in the number of apoptotic cells (P = 0.002). Airway neutrophilia was associated with an increase in MN frequency (P = 0.033) independent of the direct effects of ozone exposure (P < 0.0001). We also observed significant increases in both MN and NB frequencies after exercise in filtered air, suggesting that physical activity is also an important inducer of oxidative stress. These results corroborate our previous findings that cytogenetic damage is associated with ozone exposure, and show that damage is dose-dependent. Further study of ozone-induced cytogenetic damage in airway epithelial cells could provide evidence for the role of oxidative injury in lung carcinogenesis, and help to address the potential public health implications of exposures to oxidant environments. PMID:25451016

  14. FLT3 and NPM1 mutations in Chinese patients with acute myeloid leukemia and normal cytogenetics.

    Science.gov (United States)

    Wang, Lei; Xu, Wei-lai; Meng, Hai-tao; Qian, Wen-bin; Mai, Wen-yuan; Tong, Hong-yan; Mao, Li-ping; Tong, Yin; Qian, Jie-jing; Lou, Yin-jun; Chen, Zhi-mei; Wang, Yun-gui; Jin, Jie

    2010-10-01

    Mutations of fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) exon 12 genes are the most common abnormalities in adult acute myeloid leukemia (AML) with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction (PCR) and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication (FLT3/ITD) and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 (19.7%) of 76 subjects, and NPM1 mutation in 20 (26.3%) subjects. Seven (9.2%) cases were positive for both FLT3/ITD and NPM1 mutations. Significantly more FLT3/ITD aberration was detected in subjects with French-American-British (FAB) M1 (42.8%). NPM1 mutation was frequently detected in subjects with M5 (47.1%) and infrequently in subjects with M2 (11.1%). FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD-positive group had a lower complete remission (CR) rate (53.3% vs. 83.6%). Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival (OS) and relapse-free survival (RFS). The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group (P=0.069). Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.

  15. Cytogenetic studies in persons, professionally exposed to low doses ionizing radiation

    Energy Technology Data Exchange (ETDEWEB)

    Bulanova, M.; Ivanov, B.; Khristova, M.; Praskova, L.; Mikhajlov, M.; Dovev, I. (Meditsinska Akademiya, Sofia (Bulgaria). Nauchen Inst. po Rentgenologiya i Radiobiologiya)

    1981-01-01

    Cytogenetic techniques were used to examine peripheral lymphocytes taken from 33 subjects employed at the IRT-2000-Sofia Nuclear Reactor and exposed to mixed gamma and neutron radiation in its Zone A. Physical dosimetry data (from pen and film personnel dosimeters) showed the exposures to be below maximum permissible levels, in complience with Radiation Safety Norms in the P.R. of Bulgaria (1972). The subjects were distributed into three groups according to the length of their occupational experience as radiation workers. Comparisons were made with cytogenetic findings in the lymphocyte cultures taken from 30 subjects with no occupational radiation exposure. Radiation workers exhibited a significant increase in chromosomal damage of the chromosome and chromatid type. Subjects with 5-10 years of occupational experience had a higher degree of chromosomal damage than the less-than-5-years group. For persons with more than 10 years of occupational experience, however, no increase over controls could be ascertained in percentage of chromosomal damage. When radiation workers were re-distributed in accord with the exposures received, it was evident that the effect increased with the accumulated dose, the group with about 0.02 Sievert having nearly twice the aberrant cell percentage for the 0.01 Sievert group. In the group of up to 0.05 Sievert, the percentage of aberrant cells was in the order of that observed after exposure to 0.02 Sievert. From the findings in the analysis, radiation quality seemed to play no part in enliciting the cytogenetic response of peripheral lymphocytes.

  16. Position of cytogenetic examination of cosmonauts for the space radiation exposure estimate

    Science.gov (United States)

    Snigiryova, Galina; Novitskaya, Natalia; Fedorenko, Boris

    The cytogenetic monitoring was carried out to evaluate of radiation induced stable and un-stable chromosome aberration frequency in peripheral blood lymphocytes of cosmonauts who participated in flights on Mir Orbital Station and ISS (International Space Station). In the period of 1992 -2008 chromosome aberrations in 202 blood samples from 48 cosmonauts were analyzed using the conventional method. In addition 23 blood samples from 12 cosmonauts were analyzed using FISH (fluorescence in situ hybridization) technique. Whole chromosome painting probes for chromosomes 1, 4 and 12 were used simultaneously with a pancentromeric probe. Samples taken before and after the flights were analyzed. Long-term space flights led to an increase of stable (FISH method) and unstable (conventional method) chromosome aber-ration frequencies. The frequencies of dicentrics and centric rings depend on the space flight duration and accumulated dose value. Extravehicular activity also adds to chromosome aber-ration frequency in blood lymphocytes of cosmonauts. Several years after the space flight the increased level of unstable chromosome aberrations is still apparent. The radiation load was decreased for cosmonauts after taking ISS over from MIR station. The cytogenetic results were in agreement with data of physical dosimetry. The dose interval after the first flight, estimated by the frequency of dicentrics, was 113-227 mSv for long-term flights (73 -199 days) and 53-107 mSv for short-term flights (1 -21 days). According to the frequency of FISH translocations, the average dose after the first long-term flight was 186 mSv, which is comparable with estimates made from the dicentric assay. Cytogenetic examination of cosmonauts, including analysis of dicentrics (conventional method) and translocations (FISH method) should find wider applica-tion to assessment of radiation effects associated with long-term space flights such as flights to Mars.

  17. Evaluation of cell types for assessment of cytogenetic damage in arsenic exposed population

    Directory of Open Access Journals (Sweden)

    Singh Keshav K

    2008-05-01

    Full Text Available Abstract Background Cytogenetic biomarkers are essential for assessing environmental exposure, and reflect adverse human health effects such as cellular damage. Arsenic is a potential clastogen and aneugen. In general, the majority of the studies on clastogenic effects of arsenic are based on frequency of micronuclei (MN study in peripheral lymphocytes, urothelial and oral epithelial cells. To find out the most suitable cell type, here, we compared cytogenetic damage through MN assay in (a various populations exposed to arsenic through drinking water retrieved from literature review, as also (b arsenic-induced Bowen's patients from our own survey. Results For literature review, we have searched the Pubmed database for English language journal articles using the following keywords: "arsenic", "micronuclei", "drinking water", and "human" in various combinations. We have selected 13 studies consistent with our inclusion criteria that measured micronuclei in either one or more of the above-mentioned three cell types, in human samples. Compared to urothelial and buccal mucosa cells, the median effect sizes measured by the difference between people with exposed and unexposed, lymphocyte based MN counts were found to be stronger. This general pattern pooled from 10 studies was consistent with our own set of three earlier studies. MN counts were also found to be stronger for lymphocytes even in arsenic-induced Bowen's patients (cases compared to control individuals having arsenic-induced non-cancerous skin lesions. Conclusion Overall, it can be concluded that MN in lymphocytes may be superior to other epithelial cells for studying arsenic-induced cytogenetic damage.

  18. Pediatric epithelial salivary gland tumors: spectrum of histologies and cytogenetics at a children's hospital.

    Science.gov (United States)

    Craver, Randall D; Fonseca, Paula; Carr, Ronald

    2010-01-01

    There are conflicting reports regarding the relative frequency of benign and malignant epithelial salivary gland tumors in children. There are only a few reports of the cytogenetic abnormalities in the pleomorphic adenomas (PA) that arise in children, and even less information regarding the pleomorphic adenoma gene 1 (PLAG1) and high motility group A2 (HMGA2 ) histochemical staining in PAs, or their correlation with histologic types (stromal vs epithelial predominance). A retrospective 14 year review of epithelial salivary gland tumors encountered at a children's hospital identified 13 tumors: 12 PAs and 1 acinic cell carcinoma (ACC). No mucoepidermoid carcinomas were identified. Tumors arose in the parotid (7) and other sites (2 submandibular, 4 minor). Ten PAs in our cohort had cytogenetic studies. Four were normal, 5 involved 8q12, and 1 involved 12q13. Immunohistochemistry identified an additional 2 PAs with PLAG1 staining, and 5 additional PAs with HMGA2 staining. One tumor with ins(18;8)(q21.1;q12q22.2) had no PLAG1 staining, but stained with HMGA2. This ins(18;8) may not have involved the PLAG1 gene. There was no demonstrable correlation of 8q12/PLAG1 staining or 12q13/HMGA2 staining with histologic type. Thus we found abnormalities in either 8q12/PLAG1 staining or 12q13/HMGA2 staining in all PAs. The HMGA2 staining in 50% of PAs suggests that it may be more frequently involved in PAs than previously thought based on cytogenetic studies, at least in children.

  19. Clinical characteristics, cytogenetic and molecular findings in patients with disorders of sex development.

    Science.gov (United States)

    Tian, Li; Chen, Ming; Peng, Jian-hong; Zhang, Jian-wu; Li, Li

    2014-02-01

    The clinical characteristics of patients with disorders of sex development (DSD), and the diagnostic values of classic cytogenetic and molecular genetic assays for DSD were investigated. In the enrolled 56 cases, there were 9 cases of 46,XY DSD, 6 cases of Turner syndrome (TS), one case of Super female syndrome, 25 cases of Klinefelter syndrome, 14 cases of 46,XX DSD, and one case of autosomal balanced rearrangements with hypospadias. The diagnosis of sex was made through physical examination, cytogenetic assay, ultrasonography, gonadal biopsy and hormonal analysis. PCR was used to detect SRY, ZFX, ZFY, DYZ3 and DYZ1 loci on Y and X chromosomes respectively. The DSD patients with the same category had similar clinical characteristics. The karyotypes in peripheral blood lymphocytes of all patients were identified. PCR-based analysis showed presence or absence of the X/Y-linked loci in several cases. Of the 9 cases of 46,XY DSD, 6 were positive for SRY, 9 for ZFX/ZFY, 9 for DYZ3 and 8 for DYZ1 loci. Of the 6 cases of TS, only 1 case with the karyotype of 45,X,/46,XX/46,XY was positive for all 5 loci. Of the 25 cases of Klinefelter syndrome, all were positive for all 5 loci. In one case of rare Klinefelter syndrome variants azoospermia factor (AZF) gene detection revealed the loss of the AZFa+AZFb region. In 14 cases of 46,XX DSD, 7 cases were positive for SRY, 14 for ZFX, 7 for ZFY, 7 for ZYZ3, and 5 for DYZ1. PCR can complement and also confirm cytogenetic studies in the diagnosis of sex in cases of DSD.

  20. Drug-induced premature chromosome condensation (PCC) protocols: cytogenetic approaches in mitotic chromosome and interphase chromatin.

    Science.gov (United States)

    Gotoh, Eisuke

    2015-01-01

    Chromosome analysis is a fundamental technique which is used in wide areas of cytogenetic study including karyotyping species, hereditary diseases diagnosis, or chromosome biology study. Chromosomes are usually prepared from mitotic cells arrested by colcemid block protocol. However, obtaining mitotic chromosomes is often hampered under several circumstances. As a result, cytogenetic analysis will be sometimes difficult or even impossible in such cases. Premature chromosome condensation (PCC) (see Note 1) is an alternative method that has proved to be a unique and useful way in chromosome analysis. Former, PCC has been achieved following cell fusion method (cell-fusion PCC) mediated either by fusogenic viruses (e.g., Sendai virus) or cell fusion chemicals (e.g., polyethylene glycol), but the cell fusion PCC has several drawbacks. The novel drug-induced PCC using protein phosphatase inhibitors was introduced about 20 years ago. This method is much simpler and easier even than the conventional mitotic chromosome preparation protocol use with colcemid block and furthermore obtained PCC index (equivalent to mitotic index for metaphase chromosome) is usually much higher than colcemid block method. Moreover, this method allows the interphase chromatin to be condensed to visualize like mitotic chromosomes. Therefore drug-induced PCC has opened the way for chromosome analysis not only in metaphase chromosomes but also in interphase chromatin. The drug-induced PCC has thus proven the usefulness in cytogenetics and other cell biology fields. For this second edition version, updated modifications/changes are supplemented in Subheadings 2, 3, and 4, and a new section describing the application of PCC in chromosome science fields is added with citation of updated references.

  1. Molecular cytogenetic map of the central bearded dragon, Pogona vitticeps (Squamata: Agamidae).

    Science.gov (United States)

    Young, M J; O'Meally, D; Sarre, S D; Georges, A; Ezaz, T

    2013-07-01

    Reptiles, as the sister group to birds and mammals, are particularly valuable for comparative genomic studies among amniotes. The Australian central bearded dragon (Pogona vitticeps) is being developed as a reptilian model for such comparisons, with whole-genome sequencing near completion. The karyotype consists of 6 pairs of macrochromosomes and 10 pairs microchromosomes (2n = 32), including a female heterogametic ZW sex microchromosome pair. Here, we present a molecular cytogenetic map for P. vitticeps comprising 87 anchor bacterial artificial chromosome clones that together span each macro- and microchromosome. It is the first comprehensive cytogenetic map for any non-avian reptile. We identified an active nucleolus organizer region (NOR) on the sub-telomeric region of 2q by mapping 18S rDNA and Ag-NOR staining. We identified interstitial telomeric sequences in two microchromosome pairs and the W chromosome, indicating that microchromosome fusion has been a mechanism of karyotypic evolution in Australian agamids within the last 21 to 19 million years. Orthology searches against the chicken genome revealed an intrachromosomal rearrangement of P. vitticeps 1q, identified regions orthologous to chicken Z on P. vitticeps 2q, snake Z on P. vitticeps 6q and the autosomal microchromosome pair in P. vitticeps orthologous to turtle Pelodiscus sinensis ZW and lizard Anolis carolinensis XY. This cytogenetic map will be a valuable reference tool for future gene mapping studies and will provide the framework for the work currently underway to physically anchor genome sequences to chromosomes for this model Australian squamate.

  2. Citogenética de aves. I. Cariologia de aves e o desenvolvimento da citogenética Cytogenetics of birds. I. Cariology birds and the development of cytogenetics

    Directory of Open Access Journals (Sweden)

    Aldo Waldrigues

    1981-11-01

    Full Text Available Revisão bibliográfica visando relacionar o desenvolvimento da cariologia de aves com o desenvolvimento da citogenética em geral e mostrar a escassez de dados citogenéticos em relação às aves. Discussão das perspectivas de pesquisas nessa área do conhecimento.This review article shows not only the general relationship between the development of bird cariology and the development of general cytogenetics, but also the paucity of bird cytogenetic data, and the perspectives in this research area.

  3. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

    DEFF Research Database (Denmark)

    Wirth, J; Nothwang, H G; van der Maarel, S

    1999-01-01

    Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs, on ave...

  4. Impact of cytogenetics on the outcome of adult acute lymphoblastic leukemia: results of Southwest Oncology Group 9400 study.

    Science.gov (United States)

    Pullarkat, Vinod; Slovak, Marilyn L; Kopecky, Kenneth J; Forman, Stephen J; Appelbaum, Frederick R

    2008-03-01

    We examined the prognostic impact of cytogenetics on the outcome of 200 acute lymphoblastic leukemia (ALL) patients 15 to 65 years of age enrolled in Southwest Oncology Group (SWOG)-9400 study. Evaluable cytogenetics or fluorescence in situ hybridization studies were available in 140 (70%) patients. Four karyotype categories (normal [n = 31, 22%], t(9;22)/BCR/ABL1 [n = 36, 26%], other unfavorable [-7, +8, or 11q23 rearrangement, n = 19, 13%], and miscellaneous [n = 54, 39%]) and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined. Overall survival (OS) decreased significantly with increasing age (P = .009) and varied with karyotype category (P cytogenetics as the most important prognostic factor in adult ALL. This trial was registered at www.ClinicalTrials.gov as #NCT00002665.

  5. Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae reveals different chromosome number for the genus

    Directory of Open Access Journals (Sweden)

    Izaura Bezerra Francini

    2011-10-01

    Full Text Available Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae, by conventional Giemsa staining and C-banding, revealed a different chromosome number for Melipona: 2n = 22 for females and diploid drones while the haploid drones present n = 11. There is no evidence of B chromosomes. This result contrasts with previous studies, in which the chromosome number of 19 Melipona species was determined as 2n = 18 for females and n = 9 for haploid males. Based on cytogenetic information available for other Melipona species, we propose that M. s. merrillae has a more derived diploid number. This indicates that chromosome number is not a conservative characteristic within the genus as previously thought. Cytogenetic data for stingless bees are scarce, especially in Amazon region. Additional studies will be very important in order to promote Melipona karyoevolution discussion and consequently a taxonomy review.

  6. Microgranular acute promyelocytic leukemia: a distinct clinical, ultrastructural, and cytogenetic entity

    Energy Technology Data Exchange (ETDEWEB)

    Golomb, H.M.; Rowley, J.D.; Vardiman, J.W.; Testa, J.R.; Butler, A.

    1980-02-01

    Three patients with acute leukemia, disseminated intravaslar coagulation, and a specific acquired chromosome abnormality (t(15;17)) were found by transmission electron microscopy to have the typical distribution of granules seen in promyelocytes. However, the average granule sizes were 120, 170 and 180 nm, respectively, for the three patients, significantly less than the 250-nm resolution of light microscopy. We regard the leukemia in these three patients as comprising a distinct clinical, ultrastructural, and cytogenetic entity that we have chosen to all microgranular acute promyelocytic leukemia.

  7. [Comparative cytogenetic study of the tetraploid Matricaria chamomilla L. and Matricaria inodora L].

    Science.gov (United States)

    Samatadze, T E; Amosova, A V; Mel'nikova, N V; Suslina, S N; Zagumennikova, T N; Zelenin, A V; Bykov, V A; Muravenko, O N

    2014-01-01

    A comparative cytogenetic study of the autotetraploid breed of Matricaria chamomilla L. (M. recutita L.) and Matricaria inodora L. was carried out by DAPI-banding, fluorescent hybridization in situ (FISH) with 26S and 5S rDNA probes, and analysis of meiosis. All chromosomes were identified in both karyotypeson the basis of DAPI-banding images and 26S and 5S rDNA distribution, and species-specific idiograms were composed for both M. chamomilla and M. indora taking into account the polymorphous variants of DAPI-banding images, showing the location of the 26S and 5S rDNA sites.

  8. Clinical, hematological, and cytogenetic profile of adult myelodysplastic syndrome in a tertiary care center

    Directory of Open Access Journals (Sweden)

    Narayanan S

    2017-02-01

    Full Text Available Santhosh Narayanan Department of Medicine, Government Medical College, Kozhikode, Kerala, India Background: Myelodysplastic syndrome (MDS, a disorder of clonal hematopoiesis, is an important clinical entity, but most of the studies available are conducted among the Western population. Its etiological factors and clinicohematological profile in the Indian population are quite diverse. The information regarding its prognostic factors and cytogenetics is very scarce.Objectives: (1 To assess the clinicohematological profile, cytogenetics, prognostic factors, and outcome of MDS and (2 to study its progression to acute myeloid leukemia (AML in the selected patients over the study period.Methods: A prospective observational study was performed with patients from Department of Medicine and Hematology, Government Medical College, Kozhikode, who were diagnosed with MDS within the study period (from 1 January 2014 to 31 July 2015. Secondary causes of dysplasia were excluded. In possible cases, the international prognostic scoring system was followed. These patients were followed up for an additional 6 months to assess the progression of MDS to AML based on symptoms, signs, hemogram, or repeat peripheral smear/bone marrow studies.Results: Of the 60 patients, 73% were aged >60 years. Disease was common in males, with a male:female ratio of 7:3. Thirty-five percent of the patients were working in agricultural and allied fields and had pesticide exposure. Patients with prior radiation exposure had significant association with adverse outcome. Fatigue was the prominent symptom and was reported by 90% of the patients. Blasts were >5% in peripheral smear; bone marrow cytopenia and dysplasia at the time of diagnosis had significant association with risk of transforming to AML. Refractory anemia (RA, observed in 22 patients, was the most common type of MDS. Most of the patients with RA with excess blasts type-1 and RA with excess blasts type-2 transformed to AML

  9. Cytogenetic and hormonal studies of persons occupationally irradiated with ionizing radiation

    Energy Technology Data Exchange (ETDEWEB)

    Ivanov, B.; Maleeva, A.; Praskova, L.; Mileva, M.; Bulanova, M.

    1979-01-01

    Cytogenetic and hormonal investigations were carried out on 23 subjects working in the sphere of ionizing radiation at medical institutions. Statistically significant differences in number of chromosomal aberrations were found between medical personnel and the general public, and in the group of personnel with more than 10 years of service. Futhermore, among the medical personnel, a statistically significant decrease was found in the level of sex hormones in blood plasma. Plasma cortisol levels were increased in all subjects examined whereas aldosterone levels were normal in subjcts with a length of service to 10 years and were lower in those with a length of service over 10 years.

  10. Cytogenetics of monosomes in Zea mays. Comprehensive report, October 1, 1970--January 31, 1977

    Energy Technology Data Exchange (ETDEWEB)

    Weber, D. F.

    1976-10-01

    Monosomics (organisms lacking one chromosome) are perhaps the most interesting of the aneuploid types because a chromosome lacks a pairing partner in each meiotic cell and because genes on an entire chromosome are present in the hemizygous condition in each meiotic cell. A recently-discovered system produces a high frequency of monosomics in a Zea mays (maize). With this system, monosomics are available in a diploid organism in relatively large numbers and for most of the chromosomes for the first time. Results are reported from studies on several aspects of the cytogenetics of monosomics.

  11. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country

    Energy Technology Data Exchange (ETDEWEB)

    Petersen, M.B.; Brondum-Nielsen, K.; Hansen, L.K.; Wulff, K.

    1995-06-19

    Angelman syndrome (AS) was initially considered a rather rare abnormality, but in later years, with the possibilities for cytogenetic and molecular diagnosis an increasing number of patients have been reported. The incidence is quoted to be around 1:20,000. The etiology of AS is associated with the lack of maternal allele(s) of one or more loci at 15q11-q13, and is considered an effect of parental imprinting of that region, since a similar deficiency of paternal alleles leads to Prader-Willi syndrome. 9 refs., 1 tab.

  12. No short-term cytogenetic consequences of Hungarian red mud catastrophe.

    Science.gov (United States)

    Gundy, Sarolta; Farkas, Gyöngyi; Székely, Gábor; Kásler, Miklós

    2013-01-01

    Red mud is an industrial waste produced in the process of alumina extraction from bauxite with concentrated NaOH. When the red mud-containing reservoir collapsed in Ajka Alumina Plant Hungary in October 2010, the most serious immediate effects were caused by the high alkalinity (pH ≥ 13) of the flood. Many persons suffered burn-like damage to tissues and contact with caustic desiccated ultra-fine dust with traces of toxic metals also caused irritation of upper respiratory tract and eyes. This catastrophe was unique from the point of view of genotoxic effects as well. Therefore cytogenetic examinations were carried out on inhabitants, either with burns (17 persons) or on those inhaling desiccated caustic dust (42 persons). Chromosomal aberration (CA) analysis and bleomycin (BLM)-sensitivity assays, as possible markers of effects, were studied in peripheral blood lymphocytes of persons within 4-6 weeks following the catastrophe. Controls were matched for age, sex and smoking habits, and also places of residence with different constituents of air pollution either from rural (59 persons), or from urban environments (59 persons). Neither spontaneous rate of CAs (1.47% vs. 1.69%) nor BLM-induced in vitro chromosomal breakage (0.79 vs. 0.83 break/cell) showed elevated rates when cytogenetic biomarkers of genotoxicity were compared between controls and exposed persons. Time spent in cleaning did not affect cytogenetic changes either (R(2) = 0.04). BLM-induced mutagen sensitivity was similar in exposed and control persons (27.1% vs. 30.5%). It seems that the red mud exposure does not appear to pose an immediate genotoxic hazard on residents when measured with cytogenetic methods. We recommend, however, that those involved in clean-up activities should be followed closely not only for overall health, but also for further genotoxic risk assessment, because the long-term hazards of ultra-fine fugitive dust particles with alkalinity of residual NaOH in red mud are still

  13. A clinical and cytogenetic study of fifteen patients with 45,X/46XY gonadal dysgenesis.

    Science.gov (United States)

    Gantt, P A; Byrd, J R; Greenblatt, R B; McDonough, P G

    1980-09-01

    The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.

  14. Cytogenetic studies in twelve patients with primary myelofibrosis and myeloid metaplasia.

    Science.gov (United States)

    Smadja, N; Krulik, M; de Gramont, A; Sirinelli, A; Brissaud, P; Dray, C; Audebert, A A; Debray, J

    1987-01-01

    Chromosome studies on bone marrow and/or peripheral blood cells without phytohemagglutinin were performed on 12 patients with primary myelofibrosis with myeloid meta-plasia (PMMM) between 1980 and 1984. Abnormal clones were found in six patients (50%). In five cases the abnormal clone involved the long arm of chromosome #7, two of which also had partial trisomy of chromosome #1 and trisomy of 9. Additional abnormalities involving chromosomes #3, #5, #11, #13, #15, and #21 were each found once. Review of the literature showed few studies on the cytogenetics of PMMM. No specific chromosomal pattern can be established; however, abnormalities described are nonrandom.

  15. Morphologic, immunologic, and cytogenetic characteristics of secondary acute unclassifiable leukemia in Hodgkin's disease.

    Science.gov (United States)

    Orazi, A; Cattoretti, G; Sozzi, G; Miozzo, M; Polli, N; Delia, D; Viviani, S; Negretti, E; Della Porta, G; Rilke, F

    1988-08-31

    Blast cells from five cases of secondary unclassifiable leukemia following therapy for Hodgkin's disease were studied by cytochemical, immunological and cytogenetic analyses. Cytochemical and immunological reactivity were in accordance with poorly differentiated, myeloid blasts. The four cases in which karyotype analysis was performed showed specific chromosomal abnormalities. No evidence of multiple lineage involvement was found. Problems in classifying these cases of secondary ANLL were due to the high grade of undifferentiation of the blast cells. Their low cytochemical reactivity with markers of myeloid differentiation was similar to what may be observed in patients with acute undifferentiated leukemia or with chronic myeloid leukemia in blast crisis.

  16. Somatic and germ cell cytogenetic studies and AZF microdeletion screening in infertile men

    Directory of Open Access Journals (Sweden)

    Rita C. V. Carrara

    2004-01-01

    Full Text Available Clinical and cytogenetic studies were performed in 65 infertile individuals, and 56 of them were also screened for microdeletions in Yq11 (AZF region. Relevant environmental etiological factors were identified in 10 cases (15.4%. Sertoli-cell-only syndrome was diagnosed in six patients (9,2%. Karyotype abnormalities were detected in six individuals, and five other patients presented desynapsis of bivalents in meiosis. Three out of the 56 patients studied were carriers of microdeletions in the AZF region, one of them also presenting a chromosomal mosaicism for an extra i(22p.

  17. [Cytogenetic studies on submerged plants from the Yenisei river area in the zone of radioactive contamination].

    Science.gov (United States)

    Muratova, E N; Goriachkina, O V; Kornilova, M G; Pimenov, A V; Sedel'nikova, T S; Bolsunovskiĭ, A Ia

    2014-01-01

    Cytogenetic studies on three species of submerged plants from different parts of the Yenisei river area subjected to radioactive impact of the Krasnoyarsk Mining-and-Chemical Plant and the Electrochemical Factory have been conducted. A high level of irregularities in anatelophase and metaphase of mitoses has been revealed in test samples compared to the control: agglutination and fragmentation of chromosomes, lagging chromosomes, bridges, fragments, misdivisions, and others. The natuie of the disorders indicates that they are related in part to the direct damage to the chromosome structure and in part to damage to the spindle.

  18. Comparative cytogenetics of two of the smallest Amazonian fishes: Fluviphylax simplex Costa, 1996 and Fluviphylax zonatus Costa, 1996 (Cyprinodontiformes, Poeciliidae

    Directory of Open Access Journals (Sweden)

    Eduardo Souza

    2011-12-01

    Full Text Available The genus Fluviphylax Whitley, 1965 is comprized of five valid species (F. pygmaeus Myers et Carvalho, 1955, F. zonatus, F. simplex, F. obscurus Costa, 1996, and F. palikur Costa et Le Bail, 1999, which are endemic to the Amazon region. These fishes are the smallest known South American vertebrates and among the smallest know vertebrates on Earth. All species but the type F. pygmaeus have been described in late 1990’s, and much remains unknown about the biology, taxonomy and systematics of this group of fishes. The aims of the present study were to establish the diploid and haploid number of F. zonatus and F. simplex, and to find species-specific markers for the discrimination of taxa. The diploid number for both species was 48 chromosomes, with no sex chromosome heteromorphism. Fluviphylax zonatus exhibited the karyotypic formula 4m+8sm+22st+14a and FN=82, and F. simplex exhibited 4m+16sm+18st+10a and FN=86. The determination of the total mean length of the chromosomes and their grouping into five size classes demonstrated different chromosome composition of the two species. This difference was further supported by the distribution of constitutive heterochromatin. The meiotic analysis revealed 24 bivalents in both species, but F. zonatus exhibited chromosomes with late pairing of the telomeric portions in the pachytene. These data reveal that cytogenetic characterization is useful and important for the discrimination of these species. Our study further indicates that this method could be employed in the analysis of other species of small fishes that are difficult to distinguish using traditional morphological traits or are morphologically cryptic.

  19. Cytogenetic study in lymphocytes from children exposed to ionizing radiation after Chernobyl accident

    Energy Technology Data Exchange (ETDEWEB)

    Padovani, L.; Mauro, F. [ENEA, Casaccia (Italy). Area Energia Ambiente e Salute; Caporossi, D.; Tedeschi, B.; Vernole, P.; Nicoletti, B. [Rome-2 Univ. (Italy)

    1993-12-31

    This study concerns the monitoring of children from the Byelorussian, Ukrainian and Russian republics exposed to the fall-out of the Chernobyl accident. Cytogenetic analyses were performed on 41 children coming from different areas and exhibiting varying amounts of {sup 137}Cs internal contamination, as evaluated by whole body counter (WBC) analysis. It was found that on a total of 28,670 metaphases scored, radiation-induced chromosome damage is still present, although at a very low frequency. Due to the very low fraction of dicentrics, because of the time elapsed from the accident and the relatively low doses of exposure, radiobiological dosimetry is not possible for these children. However, considering that the WBC data indicate that the children are still exposed to {sup 137}Cs contamination, the observed occurrence of stable chromosome rearrangements and breaks may represent the persisting effect of continuous low doses of radiation. The study also indicates that the parallel use of internal contamination dosimetry and cytogenetics could be usefully employed to monitor individual exposure to radiation and to define further management measures.

  20. [Cytogenetic changes of the bone marrow in massive blood loss and their correction with mexidol].

    Science.gov (United States)

    Kozhura, V L; Tlatova, T A; Kondakova, N V; Sakharova, V V; Ripa, N V

    2003-01-01

    The citogenetic lesions were evaluated in the marrow erythroblasts of 45 anesthetized white nonlinear male rats, weight--200-300 g who were subjected to an acute blood loss with a 1-hour arterial hypotension (ABR = 40 mm Hg); the micronucleus tests was made use of. Two stages of the increase of polychromatophilic erythrocytes with micronuclei in the marrow of the animals, who underwent a massive blood loss, were registered: stage 1--an incomplete marrow ischemia with a subsequent arterial hypotension and with a reliably confirmed formation of cytogenetic lesions in the marrow polychromatophilic erythrocytes; stage 2--the reperfusion period contributed to a 1.7-fold increase of polychromatophilic erythrocytes with micronuclei versus the previous stage. Mexidole, when used at 50 mg/kg prior to blood reinfusion, decreased the quantity of polychromatophilic erythrocytes with micronuclei to the basic level, which is indicative of reversibility and instability of cytogenetics impairments in the marrow cells of animals observed in the early post-resuscitation period.