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Sample records for conventional cytogenetic characterization

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

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    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.

  2. Conventional and molecular cytogenetics of human non-medullary thyroid carcinoma: characterization of eight cell line models and review of the literature on clinical samples

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    Rocha Ana

    2008-12-01

    Full Text Available Abstract Background Cell lines are often poorly characterized from a genetic point of view, reducing their usefulness as tumor models. Our purpose was to assess the genetic background of eight commonly used human thyroid carcinoma models and to compare the findings with those reported for primary tumors of the gland. Methods We used chromosome banding analysis and comparative genomic hybridization to profile eight non-medullary thyroid carcinoma cell lines of papillary (TPC-1, FB2, K1 and B-CPAP, follicular (XTC-1 or anaplastic origin (8505C, C643 and HTH74. To assess the representativeness of the findings, we additionally performed a thorough review of cytogenetic (n = 125 and DNA copy number information (n = 270 available in the literature on clinical samples of thyroid carcinoma. Results The detailed characterization of chromosomal markers specific for each cell line revealed two cases of mistaken identities: FB2 was shown to derive from TPC-1 cells, whereas K1 cells have their origin in cell line GLAG-66. All cellular models displayed genomic aberrations of varying complexity, and recurrent gains at 5p, 5q, 8q, and 20q (6/7 cell lines and losses at 8p, 13q, 18q, and Xp (4/7 cell lines were seen. Importantly, the genomic profiles were compatible with those of the respective primary tumors, as seen in the meta-analysis of the existing literature data. Conclusion We provide the genomic background of seven independent thyroid carcinoma models representative of the clinical tumors of the corresponding histotypes, and highlight regions of recurrent aberrations that may guide future studies aimed at identifying target genes. Our findings further support the importance of routinely performing cytogenetic studies on cell lines, to detect cross-contamination mishaps such as those identified here.

  3. Conventional and molecular cytogenetics of human non-medullary thyroid carcinoma: characterization of eight cell line models and review of the literature on clinical samples

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    Ribeiro, Franclim Ricardo; Meireles, Ana Margarida; Rocha, Ana Sofia; Teixeira, Manuel Rodrigues

    2008-01-01

    Background Cell lines are often poorly characterized from a genetic point of view, reducing their usefulness as tumor models. Our purpose was to assess the genetic background of eight commonly used human thyroid carcinoma models and to compare the findings with those reported for primary tumors of the gland. Methods We used chromosome banding analysis and comparative genomic hybridization to profile eight non-medullary thyroid carcinoma cell lines of papillary (TPC-1, FB2, K1 and B-CPAP), follicular (XTC-1) or anaplastic origin (8505C, C643 and HTH74). To assess the representativeness of the findings, we additionally performed a thorough review of cytogenetic (n = 125) and DNA copy number information (n = 270) available in the literature on clinical samples of thyroid carcinoma. Results The detailed characterization of chromosomal markers specific for each cell line revealed two cases of mistaken identities: FB2 was shown to derive from TPC-1 cells, whereas K1 cells have their origin in cell line GLAG-66. All cellular models displayed genomic aberrations of varying complexity, and recurrent gains at 5p, 5q, 8q, and 20q (6/7 cell lines) and losses at 8p, 13q, 18q, and Xp (4/7 cell lines) were seen. Importantly, the genomic profiles were compatible with those of the respective primary tumors, as seen in the meta-analysis of the existing literature data. Conclusion We provide the genomic background of seven independent thyroid carcinoma models representative of the clinical tumors of the corresponding histotypes, and highlight regions of recurrent aberrations that may guide future studies aimed at identifying target genes. Our findings further support the importance of routinely performing cytogenetic studies on cell lines, to detect cross-contamination mishaps such as those identified here. PMID:19087340

  4. Conventional cytogenetics in myelofibrosis: literature review and discussion.

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    Hussein, Kebede; Van Dyke, Daniel L; Tefferi, Ayalew

    2009-05-01

    The clinical phenotype of myelofibrosis (MF) is recognized either de novo (primary) or in the setting of polycythemia vera (post-PV) or essential thrombocythemia (post-ET). Approximately one-third of patients with primary MF (PMF) present with cytogenetic abnormalities; the most frequent are del(20q), del(13q), trisomy 8 and 9, and abnormalities of chromosome 1 including duplication 1q. Other less frequent lesions include -7/del(7q), del(5q), del(12p), +21 and der(6)t(1;6)(q21;p21.3). In general, cytogenetic abnormalities are qualitatively similar among PMF, post-ET MF and post-PV MF although their individual frequencies may differ. Based on prognostic effect, cytogenetic findings in MF are classified as either 'favorable' or 'unfavorable'. The former include normal karyotype or isolated del(20q) or del(13q) and the latter all other abnormalities. Unfavorable cytogenetic profile in both PMF and post-PV/ET MF confers an independent adverse effect on survival; it is also associated with higher JAK2V617F mutational frequency. In addition to their prognostic value, cytogenetic studies in MF ensure diagnostic exclusion of other myeloid neoplasms that are sometimes associated with bone marrow fibrosis (e.g. BCR-ABL1-positive or PDGFRB-rearranged) and also assist in specific treatment selection (e.g. lenalidomide therapy is active in MF associated with del(5q).

  5. Cytogenetic characterization of Taphronota thaelephora Stal. 1873 ...

    African Journals Online (AJOL)

    Taphronota thaelephora Stal. 1873 is generating a lot of interest for biological and cytogenetic studies because it has demonstrated the potential for a future veritable pest in Cameroon. The lack of previously established karyotype for the species has necessitated this study. Testes from five adult individuals collected from ...

  6. Conventional and Molecular Cytogenetic Analyses in Turkish Patients with Multiple Myeloma

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    Beyhan Durak Aras

    2012-06-01

    Full Text Available OBJECTIVE: Multiple myeloma (MM is characterized by the accumulation and proliferation of malignant plasma cells, secreting monoclonal immunoglobulins and genetic abnormalities in MM have implications for disease progression and survival. In the present study, we investigated the frequency of chromosomal abnormalities (CA in Turkish patients with MM, using interphase FISH and CC and evaluated the relationship between the rearrangements detected, prognosis and stage of disease. METHODS: We performed conventional cytogenetic and FISH studies in 50 patients to detect chromosome anomalies associated with MM. FISH probes were used to detect 13q14, 13q34, 17p13 deletions, IGH rearrangements, and monosomy and/or trisomy of chromosomes 5, 9, and 15. RESULTS: CC studies could be performed in 32 of 50 cases and five patients (15.6% showed chromosomal aberrations while 27 (84.3% had normal karyotypes. By FISH, eighteen percent (9/50 of cases were found to be normal for all parameters evaluated. Eighty-two percent (41/50 of the patients were positive for at least one abnormality. Chromosome 13 anomalies were detected in 54% (27/50 of cases. The second most common aberration observed is chromosome 15 aberrations (50%. CONCLUSION: Median survival rate was shorter in patients with one of the abnormalities including chromosome 13 aberrations, IGH rearrangements or P53 deletions. Chromosome 15 aberrations were significantly higher in patients with stage III disease (p=0.02. We conclude that FISH studies should be performed in conjunction with conventional cytogenetic analysis for prognosis in multiple myeloma patients.

  7. Acute myeloid leukemia: conventional cytogenetics, FISH, and moleculocentric methodologies.

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    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.

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

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    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.

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

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    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.

  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. Prognostic classification of MDS is improved by the inclusion of FISH panel testing with conventional cytogenetics.

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    Kokate, Prajakta; Dalvi, Rupa; Koppaka, Neeraja; Mandava, Swarna

    2017-10-01

    Cytogenetics is a critical independent prognostic factor in myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and Fluorescence in situ hybridization (FISH) Panel Testing are extensively used for the prognostic stratification of MDS, although the FISH test is not yet a bona fide component of the International Prognostic Scoring System (IPSS). The present study compares the utility of CC and FISH to detect chromosomal anomalies and in prognostic categorization. GTG-Banding and FISH Panel Testing specifically for -5/-5q, -7/-7q, +8 and -20q was performed on whole blood or bone marrow samples from 136 patients with MDS. Chromosomal anomalies were found in 40 cases by CC, including three novel translocations. FISH identified at least one anomaly in 54/136 (39.7%) cases. More than one anomaly was found in 18/54 (33.3%) cases, therefore, overall FISH identified 75 anomalies of which 32 (42.6%) were undetected by CC. FISH provided additional information in cases with CC failure and in cases with a normal karyotype. Further, in ten cases with an abnormal karyotype, FISH could identify additional anomalies, increasing the number of abnormalities per patient. Although CC is the gold standard in the cytogenetic profiling of MDS, FISH has proven to be an asset in identifying additional abnormalities. The number of anomalies per patient can predict the prognosis in MDS and hence, FISH contributed towards prognostic re-categorization. The FISH Panel testing should be used as an adjunct to CC, irrespective of the adequacy of the number of metaphases in CC, as it improves the prognostic classification of MDS. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Comparative molecular cytogenetic characterization of seven Deschampsia (Poaceae species.

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    Alexandra V Amosova

    Full Text Available 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.

  13. Molecular cytogenetic characterization of a human thyroid cancercell line

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    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.

  14. Cytogenetic characterization of cat eye syndrome marker chromosome.

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    Wenger, S L; Surti, U; Nwokoro, N A; Steele, M W

    1994-01-01

    Cat eye syndrome is associated with a partial tetrasomy 22q and can be inherited. The authors have evaluated the marker chromosome in a proband and his mother by cytogenetic banding techniques to verify the dicentric chromosomal rearrangement and by fluorescence in situ hybridization to confirm the involvement of 22. The mother also had an affected offspring with an unrelated aneuploidy, trisomy 21.

  15. Cytogenetic study and serum protein characterization of Clarias ...

    African Journals Online (AJOL)

    ... clariid fish may suggest an ongoing speciation while the presence of five common bands may also be used as a diagnostic marker for biochemical differentiation of the two fish species. Keywords: Clarias gariepinus, Heterobranchus bidorsalis, diploid chromosome number, cytogenetics, genetic variation, electrophoresis.

  16. Molecular Cytogenetic Characterization of Tenosynovial Giant Cell Tumors

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    Petter Brandal

    2004-09-01

    Full Text Available Tenosynovial giant cell tumor (TSGCT is a disease of disputed etiology and pathogenesis. Some investigations indicate a neoplastic origin of the tumors; others indicate that they are polyclonal and inflammatory. The cytogenetic and molecular genetic features of TSGCTs are largely unknown, as only some 20 localized and 30 diffuse tumors with cytogenetic aberrations have been reported. The most common karyotypic aberrations have been trisomy for chromosomes 5 and 7 and translocations involving chromosomal area 1 pi 1-13. We decided to screen the genomes of TSGCTs by comparative genomic hybridization (CGH to perform interphase fluorescence in situ hybridization (IP-FISH, looking for numerical aberrations of chromosomes 1, 5, and 7, and to analyze the tumors for microsatellite instability. Except for two diffuse TSGCTs that came fresh to us, and which, by karyotyping, exhibited t(1;22(p13;g12 and a t(1;1(g21;p11 and +7, respectively, all studies had to be performed on formalinfixed, paraffin-embedded material. DNA was extracted from 51 localized and nine diffuse TSGCTs. CGH was successful for 24 tumors, but none of them showed copy number changes. The IP-FISH studies showed trisomy 7 in 56% of the tumors (15/27, whereas chromosomes 1 and 5 seemed to be disomic in all TSGCTs. All informative tumors were wild-type by microsatellite instability analysis.

  17. Molecular cytogenetic characterization of two established ESFT cell lines.

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    Ishiguro, Masako; Yuki, Mutsumi; Fukushige, Tomoko; Mizoguchi, Mikio; Kaneko, Yasuhiko; Morishige, Takeshita; Iwasaki, Hiroshi

    2017-01-01

    Ewing's sarcoma/primitive neuroectodermal tumor/Askin's tumor (Ewing`s sarcoma family of tumors: ESFT) is the most common type of malignant tumor of bone and soft tissue in children and young adults, and morphologically is a member of a group of small round cell tumors. We report, here, on the establishment of two human ESFT cell lines, FU-PNET-3 and FU-PNET-4, from the iliac and the chest wall, respectively, the cells of both cell lines were tumorigenic in immunodeficient mice. Histologically, both original and xenograft tumors and cultured cells were composed of small round cells with positive immunoreactivity for CD99 and Nkx2.2. Molecular biological examination demonstrated chimeric transcripts of EWSR1 exon 7 to FLI1 exon 6 in FU-PNET-3 cells, and EWSR1 exon 10 to FLI1 exon 6 in FU-PNET-4 cells. Cytogenetic analysis revealed chromosome translocation t(11;22)(q24;q12) and some secondary changes in both cultured cells. These histological, molecular biological, and cytogenetical findings indicate ESFT in both cell lines. ESFT is well studied, but its recurrent fusion genes are heterogeneous and its biological behaviors are unclear. The FU-PNET-3 and FU-PNET-4 cell lines have been well examined and may become useful tools for studying the genetic and biological behavioral properties of ESFT.

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

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    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.

  19. 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.

  20. 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.

  1. 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.

  2. Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

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    Burnside, Rachel D; Lose, Edward J; Domínguez, Maria G; Sánchez-Corona, Jose; Rivera, Horacio; Carroll, Andrew J; Mikhail, Fady M

    2009-07-01

    Here, we report two cases with isolated distal 11q rearrangement and multiple congenital anomalies. The first patient is a two-and-a-half year old male referred to our genetics clinic due to dysmorphic features and developmental delay including speech delay. Using conventional and molecular cytogenetic techniques, we demonstrate that he carries a recombinant chromosome with duplication of the 11q23.3q24.2 region resulting from an intrachromosomal insertion in the father. The second patient was originally reported by Partida-Perez, et al. [Partida-Perez et al., 2006] as having a tandem duplication of the 11q23.3 region. We performed array comparative genomic hybridization (aCGH) on this patient in order to map the exact region of the duplication, and demonstrated that the patient actually had a triplication within 11q23.3. We compare the clinical features of our two patients with those previously reported to further delineate the phenotype of isolated distal 11q duplication. Our study also demonstrates the clinical usefulness of whole genome high resolution aCGH analysis as a powerful molecular cytogenetic tool capable of detecting genomic imbalances due to cytogenetically visible but uncertain rearrangements.

  3. Cytogenetic characterization of Lippia alba and Lantana camara (Verbenaceae) from Brazil.

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    Brandão, Aline Dias; Viccini, Lyderson Facio; Salimena, Fátima Regina Gonçalves; Vanzela, André Luiz Laforga; Recco-Pimentel, Shirlei Maria

    2007-03-01

    The aim of this work was to determine the cytogenetic characteristics of Brazilian Lippia alba (Mill) N. E. Brown and Lantana camara Plum. that could be useful for future characterization of these genera. Our analyses revealed that Li. alba has 2n=30 chromosomes consisting of ten metacentric and five submetacentric pairs, while La. camara has 44 metacentric chromosomes. The large blocks of heterochromatin seen in both species suggest an apomorphic condition. Six 45S rDNA sites were detected in both species by fluorescence in situ hybridization (FISH). Two and four 5S rDNA sites were observed in Li. alba and La. camara, respectively. Meiotic analysis revealed a normal chromosomal behaviour. The number of chromosomes and the presence of 45S rDNA and 5S rDNA sites do not exclude a possible polyploid origin. The cytogenetic differences between La. camara and Li. alba may be useful markers for differentiating these species.

  4. Standardized fluorescence in situ hybridization testing based on an appropriate panel of probes more effectively identifies common cytogenetic abnormalities in myelodysplastic syndromes than conventional cytogenetic analysis: a multicenter prospective study of 2302 patients in China.

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    Lai, Yue-Yun; Huang, Xiao-Jun; Li, Juan; Zou, Ping; Xu, Ze-Feng; Sun, Hui; Shao, Zong-Hong; Zhou, Dao-Bin; Chen, Fang-Ping; Liu, Zhuo-Gang; Zhu, Huan-Ling; Wu, De-Pei; Wang, Chun; Zhang, Yin; Li, Yan; Hou, Ming; Du, Xin; Wang, Xin; Li, Wei; Lai, Yong-Rong; Zhou, Jin; Zhou, Yu-Hong; Fang, Mei-Yun; Qiu, Lin; Wang, Xiao-Min; Zhang, Guang-Sen; Jiang, Ming; Liang, Ying-Min; Zhang, Lian-Sheng; Chen, Xie-Qun; Bai, Hai; Lin, Jin-Ying

    2015-05-01

    In an attempt to establish the advantages of fluorescence in situ hybridization (FISH) studies over conventional cytogenetic (CC) analysis, a total of 2302 de novo MDS patients from 31 Chinese institutions were prospectively selected in the present study for both CC and standardized FISH analysis for +8, -7/7q-, -5/5q-, 20q- and-Y chromosomal abnormalities. CC analysis was successful in 94.0% of the patients; of these patients, 35.9% of the cases were abnormal. FISH analysis was successful in all 2302 patients and detected at least one type of common cytogenetic abnormality in 42.7% of the cases. The incidences of +8, -7/7q-, -5/5q-, 20q- and-Y chromosomal abnormalities by FISH were 4.1% to 8.7% higher than those by CC. FISH identified abnormalities in 23.6% of the patients exhibiting normal CC results and revealed that 20.7% of the patients with adequate normal metaphases (≥20) had abnormal clones. FISH identified cytogenetic abnormalities in 50.4% of the patients with failed CC analysis. In summary, our multicenter studies emphasised and confirmed the importance of applying standardized FISH testing based on an appropriate panel of probes to detect common cytogenetic abnormalities in Chinese de novo MDS patients, particularly those with normal or failed CC results. Copyright © 2015. Published by Elsevier Ltd.

  5. First cytogenetic analysis of Ichthyoelephas humeralis (Günther, 1860) by conventional and molecular methods with comments on the karyotypic evolution in Prochilodontidae

    Science.gov (United States)

    Tursellino, Mauro Nirchio; Silva, Duílio Mazzoni Zerbinato de Andrade; Abad, César Quezada; Blacio, Wilmer Arnoldo Moreira; Romero, Omar Rogerio Sánchez; Oliveira, Claudio

    2016-01-01

    Abstract We used conventional cytogenetic techniques (Giemsa, C-banding, Ag-NOR), and fluorescent in situ hybridization (FISH) with 5S and 18S rDNA probes to investigate the karyotype and cytogenetic characteristics of Ichthyoelephas humeralis (Günther, 1860) from Ecuador. The specimens studied have a karyotype with 2n=54 biarmed chromosomes (32 M + 22 SM) and C-positive heterochromatin located on the centromeric, pericentromeric, interstitial, and terminal regions of some chromosomes. The nucleolus organizer regions occurred terminally on the long arm of chromosome pair 2. FISH confirmed the presence of only one 18S rDNA cluster with nonsyntenic localization with the 5S rDNA. Cytogenetic data allow us to refute the earlier morphological hypothesis of a sister relationship between Semaprochilodus Fowler, 1941 and Ichthyoelephas Posada Arango, 1909 and support the molecular proposal that Ichthyoelephas is a sister group to the monophyletic clade containing Prochilodus Agassiz, 1829 and Semaprochilodus. PMID:28123682

  6. First cytogenetic analysis of Ichthyoelephas humeralis (Günther, 1860 by conventional and molecular methods with comments on the karyotypic evolution in Prochilodontidae

    Directory of Open Access Journals (Sweden)

    Mauro Nirchio Tursellino

    2016-11-01

    Full Text Available We used conventional cytogenetic techniques (Giemsa, C-banding, Ag-NOR, and fluorescent in situ hybridization (FISH with 5S and 18S rDNA probes to investigate the karyotype and cytogenetic characteristics of Ichthyoelephas humeralis (Günther, 1860 from Ecuador. The specimens studied have a karyotype with 2n=54 biarmed chromosomes (32 M + 22 SM and C-positive heterochromatin located on the centromeric, pericentromeric, interstitial, and terminal regions of some chromosomes. The nucleolus organizer regions occurred terminally on the long arm of chromosome pair 2. FISH confirmed the presence of only one 18S rDNA cluster with nonsyntenic localization with the 5S rDNA. Cytogenetic data allow us to refute the earlier morphological hypothesis of a sister relationship between Semaprochilodus Fowler, 1941 and Ichthyoelephas Posada Arango, 1909 and support the molecular proposal that Ichthyoelephas is a sister group to the monophyletic clade containing Prochilodus Agassiz, 1829 and Semaprochilodus.

  7. Molecular and Cytogenetic Characterization of Wild Musa Species.

    Directory of Open Access Journals (Sweden)

    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

  8. Molecular and cytogenetic characterization of del(9p) syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Micale, M.A.; Haren, J.M.; Schwartz, S. [Case Western Reserve Univ. School of Medicine, Cleveland, OH (United States)] [and others

    1994-09-01

    The del(9p) syndrome is characterized by mental retardation, trigonocephaly, midface hypoplasia, upward slanting palpebral fissures, a long philtrum, and is typically associated with a breakpoint at 9p22. Seventeen unrelated patients with del(9p) and their parents were analyzed by high resolution chromosome studies, molecular analysis using a series of highly polymorphic dinucleotide repeat markers for 9p, and fluorescence in situ hybridization (FISH) to characterize precisely the extent of chromosome loss. Eleven patients were found to have an interstitial deletion with breakpoints assigned to 9p22.1 and 9p24.3 in most cases. Two patients had familial unbalanced translocations of maternal origin and four had de novo complex rearrangements identified by high resolution analysis and FISH utilizing chromosome libraries. PCR analysis of eleven families with eight minisatellite markers determined paternal origin of the deletion in six cases and maternal origin in five. This suggests that the molecular event resulting in the deletion is equally prevalent in both male and female gametogenesis and that genomic imprinting does not play a role in the pathogenesis of del(9p) syndrome. Increased precision in mapping these minisatellite markers was also possible through this work. This study demonstrates the existence of molecular heterogeneity as six patients with a cytological breakpoint at 9p22.1 revealed three different molecular breakpoints. These findings suggest that genotype-phenotype correlations in deletion syndromes such as this should be based on high-resolution molecular analysis of the deleted chromosome segment. Work is in progress to map a series of cosmid probes by FISH relative to chromosomal breakpoints in these patients. These combined studies should provide a better understanding of the mechanisms involved in the pathogenesis of del(9p) syndrome and may identify loci where genes responsible for one or more aspects of the del(9p) phenotype may reside.

  9. 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.

  10. Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction.

    Science.gov (United States)

    Chen, Chih-Ping; Ko, Tsang-Ming; Huang, Wen-Chu; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Lee, Chen-Chi; Pan, Chen-Wen; Yang, Chien-Wen; Wang, Wayseen

    2016-06-01

    To present molecular cytogenetic characterization of inv dup del(8p) in a fetus with congenital malformations. A 19-year-old, primigravid woman underwent cord blood sampling at 31 weeks of gestation because of prenatal ultrasound findings of polyhydramnios, intestinal obstruction, right ventriculomegaly, and hypoplastic left heart. Preterm precipitous labor and delivery occurred at 32 weeks of gestation. Array comparative genomic hybridization (aCGH), conventional cytogenetic analysis and metaphase fluorescence in situ hybridization (FISH) were applied on cord blood lymphocytes. aCGH was also applied on the umbilical cord. Conventional cytogenetic analysis was applied on parental bloods. aCGH detected an 11.35 Mb deletion in 8p23.3-p23.1 encompassing SOX7 and GATA4, and a 31.99 Mb duplication in 8p23.1-p11.1 in the fetus. Metaphase FISH confirmed inv dup del(8p). The fetus had a karyotype of 46,XX,der(8)del(8)(p23.1) inv dup(8) (p11.1p23.1). Parental karyotypes were normal. A malformed fetus was delivered with facial dysmorphism. Fetuses with inv dup del(8p) may present central nervous system (CNS) abnormality and congenital heart defect on prenatal ultrasound. Prenatal diagnosis of concomitant CNS and cardiac abnormalities should include a differential diagnosis of chromosome 8p inverted duplication deletion syndrome. Copyright © 2016. Published by Elsevier B.V.

  11. 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.

  12. Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.

    Science.gov (United States)

    Pylyp, Larysa Y; Spynenko, Lyudmyla O; Verhoglyad, Nataliya V; Mishenko, Anna O; Mykytenko, Dmytro O; Zukin, Valery D

    2017-10-30

    The purpose of this study is to perform a retrospective analysis of types and frequencies of chromosomal abnormalities detected by conventional cytogenetic studies in first-trimester miscarriages after spontaneous conception and IVF. Standard cytogenetic analysis of GTG-banded chromosomes obtained from products of conception (POCs): semi-direct and short-term cultured chorionic villi or long-term cultured fetal mesodermal cells. 50.1% of first-trimester miscarriages in the studied group had chromosomal abnormalities: 59.7% of trisomies, 22% of poliploidies, 7.5% of monosomies, 7% of unbalanced structural abnormalities, and 3.8% of multiple aneuploidies. An increase in the frequency of chromosomally abnormal miscarriages was observed in the group of women above 40 when compared to groups of women under 35 (P < 0.05). No difference in frequencies and types of chromosomal abnormalities in POCs of miscarriages after ICSI and spontaneous conception was observed. Approximately, 50% of first-trimester miscarriages have chromosomal abnormalities which can be detected by conventional cytogenetic analysis. The presence of chromosomal abnormality may explain the cause of miscarriage, improving the reproductive counseling and planning.

  13. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2012-09-01

    Conclusion: Molecular cytogenetic techniques such as aCGH, interphase FISH and QF-PCR on uncultured amniocytes, and SKY, MCB and metaphase FISH on cultured amniocytes are useful for characterization of the nature of a prenatally detected sSMC.

  14. Cytogenetics and cancer.

    Science.gov (United States)

    Patel, A S; Hawkins, A L; Griffin, C A

    2000-01-01

    Techniques based on fluorescence in situ hybridization (FISH) have bridged the gap between molecular genetics and conventional cytogenetics. Since its introduction in the late 1980s, advanced FISH-based methods have greatly enhanced the cytogenetic analysis of hematopoietic and solid tumors and are rapidly gaining ground in clinical cytogenetic diagnostics. As interest in FISH technologies has grown, it has inspired an era of new FISH-based technologies such as multiplex FISH, spectral karyotyping, and comparative genomic hybridization. In this review, the focus is on the impact of these technologies in the field of cancer genetics.

  15. Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping

    National Research Council Canada - National Science Library

    Macville, M; Schröck, E; Padilla-Nash, H; Keck, C; Ghadimi, B M; Zimonjic, D; Popescu, N; Ried, T

    1999-01-01

    .... Twenty clonally abnormal chromosomes were found. Comparison with previously reported HeLa G-banding karyotypes revealed a remarkably stable cytogenetic constitution because 18 of 20 markers that were found were present before...

  16. Bizarre parosteal osteochondromatous proliferation: a new cytogenetic subgroup characterized by inversion of chromosome 7.

    Science.gov (United States)

    Broehm, Cory J; M'Lady, Gary; Bocklage, Thèrése; Wenceslao, Stella; Chafey, David

    2013-11-01

    Bizarre parosteal osteochondromatous proliferation (BPOP) is a rare, benign osteocartilaginous lesion characterized by a mixture of immature bone, bland spindle cells, and irregular, hypercellular cartilage undergoing calcification. A t(1;17)(q32;q21) has been reported as a unique recurring translocation identified in seven cases. Inversion of chromosome 7, inv(7)(q22q32), has also recently been described in one case of BPOP. We report an additional case of inv(7) in a BPOP occurring on the distal radius in a 36-year-old woman who presented with a slow-growing mass on the right wrist. Metaphase karyotype analysis of fresh tissue from tumor taken at resection revealed an inv(7)(q22q32). A review of the literature identified two additional cases of inv(7) (q21.1q31.3 and q22.1q31.3), both paired with inv(6)(p25q15), bringing the total number of cases of inv(7) in BPOP to four. These data suggest inv(7) may be another characteristic cytogenetic abnormality associated with and possibly contributing to the development of BPOP. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature.

    Science.gov (United States)

    Dutta, Usha R; Hansmann, Ingo; Schlote, Dietmar

    2015-03-01

    Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is one of the powerful tools for the identification of novel disease genes. Here we report a three generation family with a heterozygous pericentric inversion of 46, XX, inv(3) (p24.1q26.1) associated with Short stature. Positional cloning strategy was used to physically map the breakpoint regions by Fluorescence in situ hybridization (FISH). Fine mapping was performed with Bacterial Artificial Chromosome (BAC) clones spanning the breakpoint regions. In order to further characterize the breakpoint regions extensive molecular mapping was carried out with the breakpoint spanning BACs which narrowed down the breakpoint region to 2.9 kb and 5.3 kb regions on p and q arm respectively. Although these breakpoints did not disrupt any validated genes, we had identified a novel putative gene in the vicinity of 3q26.1 breakpoint region by in silico analysis. Trying to find the presence of any transcripts of this putative gene we analyzed human total RNA by RT-PCR and identified transcripts containing three new exons confirming the existence of a so far unknown gene close to the 3q breakpoint. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  18. Evaluation of 1100 couples with recurrent pregnancy loss using conventional cytogenetic, PGD, and PGS: hype or hope.

    Science.gov (United States)

    Farahmand, Kamelia; Kalantari, Hamid; Fakhri, Mostafa; Fazeli, Abolhasan Shahzadeh; Moradi, Shabnam Zari; Almadani, Navid; Hashemi, Mehrdad; Gourabi, Hamid; Mohseni-Meybodi, Anahita

    2016-06-01

    Recurrent pregnancy loss (RPL) is an important clinical problem, mostly resulting from chromosomal or genetic defects, while in 30-60% of cases, it is idiopathic. The aim of this study is to evaluate the frequency and types of chromosomal abnormalities, also pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) outcomes among Iranian couples with RPL. This retrospective study was conducted on 1100 Iranian couples (2200 individuals) with RPL referred to Royan Institute between 2008 and 2014. Karyotyping had been performed using standard cytogenetic techniques. PGD results of RPL patients with abnormal karyotypes and PGS results of RPL patients with normal karyotypes were also analyzed. The frequency of chromosomal abnormalities in these patients was 4.95%. Women demonstrated more abnormalities (6.82%) in comparison to men (3.09%). The successful rate of pregnancy after PGD and PGS was 52 and 18.64%, respectively. The observation of 4.95% chromosomal abnormalities among the patients with RPL could support this hypothesis that there is a direct relationship between chromosomal abnormalities and RPL. More than half of the patients who underwent PGD had successful pregnancy; therefore, this approach can improve the success rate of pregnancy in them. The results of PGS cycles showed that this technique could increase the live birth rate in RPL patients.

  19. Dose-response curve for blood exposed to gamma-neutron mixed field by conventional cytogenetic method

    Energy Technology Data Exchange (ETDEWEB)

    Brandao, Jose Odinilson de C.; Souza, Priscilla L.G.; Santos, Joelan A.L.; Vilela, Eudice C.; Lima, Fabiana F., E-mail: jodinilson@cnen.gov.b, E-mail: fflima@cnen.gov.b, E-mail: jasantos@cnen.gov.b [Centro Regional de Ciencias Nucleares do Nordeste (CRCN-NE/CNEN-PE), Recife, PE (Brazil); Calixto, Merilane S.; Santos, Neide, E-mail: santos_neide@yahoo.com.b [Universidade Federal de Pernambuco (UFPE), Recife, PE (Brazil). Dept. de Genetica

    2009-07-01

    There is increasing concern about airline crew members (about one million worldwide) are exposed to measurable neutrons doses. Historically, cytogenetic biodosimetry assays have been based on quantifying asymmetrical chromosome alterations (dicentrics, centric rings and acentric fragments) in mytogen-stimulated T-lymphocytes in their first mitosis after radiation exposure. Increased levels of chromosome damage in peripheral blood lymphocytes are a sensitive indicator of radiation exposure and they are routinely exploited for assessing radiation absorbed dose after accidental or occupational exposure. Since radiological accidents are not common, not all nations feel that it is economically justified to maintain biodosimetry competence. However, dependable access to biological dosimetry capabilities is completely critical in event of an accident. In this paper the dose-response curve was measured for the induction of chromosomal alterations in peripheral blood lymphocytes after chronic exposure in vitro to neutron-gamma mixes field. Blood was obtained from one healthy donor and exposed to two neutron-gamma mixed field from sources {sup 241}AmBe (20 Ci) at the Neutron Calibration Laboratory (NCL-CRCN/NE-PE-Brazil). The evaluated absorbed doses were 0.2 Gy; 1.0 Gy and 2.5 Gy. The dicentric chromosomes were observed at metaphase, following colcemid accumulation and 1000 well-spread metaphase figures were analyzed for the presence of dicentrics by two experienced scorers after painted by giemsa 5%. Our preliminary results showed a linear dependence between radiations absorbed dose and dicentric chromosomes frequencies. Dose-response curve described in this paper will contribute to the construction of calibration curve that will be used in our laboratory for biological dosimetry. (author)

  20. Cytogenetic and molecular characterization of Speothos venaticus specimens - doi: 10.4025/actascibiolsci.v32i4.6775 Cytogenetic and molecular characterization of Speothos venaticus specimens - doi: 10.4025/actascibiolsci.v32i4.6775

    Directory of Open Access Journals (Sweden)

    Lígia Souza Lima Silveira da Mota

    2010-11-01

    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 and conservation 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 dog specimens, 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.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 and conservation 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 dog specimens, 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

  1. 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.

  2. Genetic and cytogenetic characterization of genetic sexing strains of Bactrocera dorsalis and Bactrocera cucurbitae (Diptera: Tephritidae).

    Science.gov (United States)

    Zacharopoulou, A; Franz, G

    2013-04-01

    In the current study, we performed genetic and cytogenetic analyses of two genetic sexing strains (GSSs), one for Bactrocera dorsalis s.s. and one for melon fly, Bactrocera cucurbitae Coquillett, the first such strains ever constructed in these species. In both strains, the genetic sexing mechanism is based on a pupal color dimorphism (white or brown) and is the result of a reciprocal translocation between the Y chromosome and the autosome bearing the white pupae (wp) locus. Based on genetic analysis and cytological data on mitotic metaphases and larval salivary gland polytene chromosomes, we succeeded in mapping the autosome breakpoints in the two Y-autosome translocations even though the Y chromosome is not visible in polytene nuclei. We show that polytene chromosomes can be used in cytogenetic analyses toward the development of genetic control methods in these pest species. The results of the genetic analysis are in full agreement with the cytological description of the strains.

  3. Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-12-01

    Conclusion: Spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization are useful for the prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial monosomy 1p (1p36.23→pter and partial trisomy 20p (20p12.1→pter are associated with ventriculomegaly, ventricular septal defect and midface hypoplasia on prenatal ultrasound. Prenatal diagnosis of ventriculomegaly, congenital heart defects and midface hypoplasia should alert clinicians to chromosome 1p36 deletion syndrome and prompt molecular cytogenetic analysis if necessary.

  4. Detailed characterization of multiple myeloma circulating tumor cells shows unique phenotypic, cytogenetic, functional, and circadian distribution profile.

    Science.gov (United States)

    Paiva, Bruno; Paino, Teresa; Sayagues, Jose-Maria; Garayoa, Mercedes; San-Segundo, Laura; Martín, Montserrat; Mota, Ines; Sanchez, María-Luz; Bárcena, Paloma; Aires-Mejia, Irene; Corchete, Luis; Jimenez, Cristina; Garcia-Sanz, Ramon; Gutierrez, Norma C; Ocio, Enrique M; Mateos, Maria-Victoria; Vidriales, Maria-Belen; Orfao, Alberto; San Miguel, Jesús F

    2013-11-21

    Circulating myeloma tumor cells (CTCs) as defined by the presence of peripheral blood (PB) clonal plasma cells (PCs) are a powerful prognostic marker in multiple myeloma (MM). However, the biological features of CTCs and their pathophysiological role in MM remains unexplored. Here, we investigate the phenotypic, cytogenetic, and functional characteristics as well as the circadian distribution of CTCs vs paired bone marrow (BM) clonal PCs from MM patients. Our results show that CTCs typically represent a unique subpopulation of all BM clonal PCs, characterized by downregulation (P < .05) of integrins (CD11a/CD11c/CD29/CD49d/CD49e), adhesion (CD33/CD56/CD117/CD138), and activation molecules (CD28/CD38/CD81). Fluorescence in situ hybridization analysis of fluorescence-activated cell sorter-sorted CTCs also unraveled different cytogenetic profiles vs paired BM clonal PCs. Moreover, CTCs were mostly quiescent and associated with higher clonogenic potential when cocultured with BM stromal cells. Most interestingly, CTCs showed a circadian distribution which fluctuates in a similar pattern to that of CD34(+) cells, and opposite to stromal cell-derived factor 1 plasma levels and corresponding surface expression of CXC chemokine receptor 4 on clonal PCs, suggesting that in MM, CTCs may egress to PB to colonize/metastasize other sites in the BM during the patients' resting period.

  5. Cytogenetic study on Thai brow-antlered deer, Cervus eldi siamensis and Thamin brow-antlered deer, Cervus eldi thamin (Artiodactyla, Cervidae by conventional staining method

    Directory of Open Access Journals (Sweden)

    Monthira Monthatong1

    2008-03-01

    Full Text Available Cytogenetics of Thai brow-antlered deer (Cervus eldi siamensis were studied in comparison with those of Thamin brow-antlered deer (Cervus eldi thamin. Blood samples were taken from the two subspecies kept in Khoa Kheow Open Zoo, Chonburi Province. After the standard whole blood lymphocyte were cultured in presence of colchicine, the metaphase spreads were performed on microscopic slides and air-dried. Conventional Giemsa’s staining were applied to stain chromosome. Thai and Thamin brow-antlered deers exhibited the same karyotype with diploid number of 2n = 58 (NF = 70 for females and 2n = 58 (NF = 71 for males. The types of autosome are 6 large metacentric, 6 large submetacentric, 8 large telocentric, 20 medium telocentric and 16 small telocentric chromosomes. In addition, satellites are clearly observed in terminal position on the short arm of a pair of chromosome 7. The X chromosome is the largest telocentric and the Y chromosome is the smallest metacentric chromosome. The karyotype formula of Thai and Thamin brow-antlered deer is as follows: 2n (58 = Lm6+Lsm6+Lt8+Mt20+St16+sex chromosome

  6. 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.

  7. 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.

  8. Cytogenetic characterization and H-ras associated transformation of immortalized human mammary epithelial cells

    Directory of Open Access Journals (Sweden)

    Larivee Siobhan

    2006-05-01

    Full Text Available Abstract Introduction Immortalization is a key step in malignant transformation, but immortalization alone is insufficient for transformation. Human mammary epithelial cell (HMEC transformation is a complex process that requires additional genetic changes beyond immortalization and can be accomplished in vitro by accumulation of genetic changes and expression of H-ras. Methods HMEC were immortalized by serial passaging and transduction with the catalytic subunit of the human telomerase gene (hTERT. The immortalized cells were passaged in vitro and studied by a combination of G- banding and Spectral Karyotyping (SKY. H-ras transduced, hTERT immortalized cells were cloned in soft agar and injected into nude mice. Extensive analysis was performed on the tumors that developed in nude mice, including immunohistochemistry and western blotting. Results Immortal HMEC alone were not tumorigenic in γ-irradiated nude mice and could not grow in soft agar. Late passage hTERT immortalized HMEC from a donor transduced with a retroviral vector containing the mutant, autoactive, human H-ras61L gene acquired anchorage independent growth properties and the capacity for tumorigenic growth in vivo. The tumors that developed in the nude mice were poorly differentiated epithelial carcinomas that continued to overexpress ras. These cells were resistant to doxorubicin mediated G1/S phase arrest but were sensitive to treatment with a farnesyltransferase inhibitor. Conclusion Some of the cytogenetic changes are similar to what is observed in premalignant and malignant breast lesions. Despite these changes, late passage immortal HMEC are not tumorigenic and could only be transformed with overexpression of a mutant H-ras oncogene.

  9. Cytogenetic and immunohistochemical characterization of mammary analogue secretory carcinoma of salivary glands.

    Science.gov (United States)

    Khurram, Syed A; Sultan-Khan, Jemel; Atkey, Neil; Speight, Paul M

    2016-12-01

    Mammary analogue secretory carcinoma (MASC), initially considered a subset of acinic cell carcinoma (ACC), harbors an ETV6 translocation [t(12:15)(p13:25 q)] and is now regarded as a distinct entity. Several putative markers to differentiate MASC from ACC have been reported; however, the immunohistochemical profile is still being explored and updated. The purpose of this study was to further explore the cytogenetic and immunohistochemical profile of MASC. Cases were analyzed for ETV6 translocation using fluorescent in situ hybridization and stained for CK8, amylase, mammaglobin, GCDFP-15, MUC1, MUC4, STAT5a, Ki-67 (n = 37), CK7, Cam5.2, CK14, SMA, p63, S100, vimentin and DOG1 (n = 42). Histochemical stains for mucins were also performed and data collected for age, sex, and site. Fluorescent in situ hybridization showed 9 cases with ETV6 rearrangement and 2 with increased ETV6 copies. These 11 cases showed an absence of PAS-D-resistant granules, with 10 of 11 showing strong S100, mammaglobin, and STAT5a staining. All ACCs showed diffuse DOG1 staining, whereas 8/11 MASCs were negative and 3 showed only focal DOG1 staining. DOG1 can be used in conjunction with PAS-D, S100, and mammaglobin to identify MASCs. Cases with increased ETV6 copies are a novel finding with a similar immunostaining profile and should be considered as MASCs. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. 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

  11. Molecular cytogenetic characterization of parental genomes in the partial amphidiploid Triticum aestivum x Thinopyrum ponticum

    OpenAIRE

    Ana Christina Brasileiro-Vidal; Angeles Cuadrado; Sandra P. Brammer; Ana Maria Benko-Iseppon; Marcelo Guerra

    2005-01-01

    The wheat line PF 839197 and six hybrid derivatives from a cross between PF 839197 and Thinopyrum ponticum were cytologically characterized by fluorescent in situ hybridization (FISH). Probes for the 5S and 45S rDNA genes (pTa794 and pTa71, respectively), a highly repetitive rye sequence (pSc119.2), the synthetic oligonucleotide (AAG)5, and total genomic DNA from Th. ponticum and rye were used. In the wheat line, a 1RS.1BL translocation was revealed by the labeling patterns produced with pSc1...

  12. Molecular and cytogenetic characterization of a de novo partial trisomy 3p case with review

    Energy Technology Data Exchange (ETDEWEB)

    Conte, R.A.; Pitter, J.; Verma, R.S. [Long Island Hospital, Brooklyn, NY (United States)

    1994-09-01

    A one-year-old male infant was found to have a de novo unbalanced translocation resulting in partial trisomy for 3p, i.e. 46,XY,der(7)t(3;7)(p24.2;p22). Major clinical features included: dysmorphic ears, decreased muscle tone and episodes of seizures associated with fever. GTG- and QFQ-banding revealed additional material suggestive of chromosome 3p that was translocated to the terminal 7p. The FISH technique with two-color specific DNA probes for whole chromosomes 3 and 7 verified this finding. Other probands with the same amount of trisomic 3p2 segments as the present case had additional clinical abnormalities. Previously, identification of this so-called trisomy 3p2 syndrome was invariably based on the analysis of GTG-banded metaphase chromosomes. A review of 37 earlier cases revealed that the clinical manifestations varied with the amount of 3p2 material in the trisomic state, demonstrating increased anomalies with increased 3p2 sub-band trisomy. Phenotype to genotype correlation is best understood under conditions that can achieve respective characterization with a high degree of certainty. Presently, the FISH technique fulfills this requirement and the employment of loci probes that span 3p, when available, will ultimately increase the characterization resolution to the gene level.

  13. Molecular cytogenetic characterization of parental genomes in the partial amphidiploid Triticum aestivum x Thinopyrum ponticum

    Directory of Open Access Journals (Sweden)

    Ana Christina Brasileiro-Vidal

    2005-01-01

    Full Text Available The wheat line PF 839197 and six hybrid derivatives from a cross between PF 839197 and Thinopyrum ponticum were cytologically characterized by fluorescent in situ hybridization (FISH. Probes for the 5S and 45S rDNA genes (pTa794 and pTa71, respectively, a highly repetitive rye sequence (pSc119.2, the synthetic oligonucleotide (AAG5, and total genomic DNA from Th. ponticum and rye were used. In the wheat line, a 1RS.1BL translocation was revealed by the labeling patterns produced with pSc119.2 and (AAG5, and confirmed by genomic in situ hybridization (GISH using rye genomic DNA as a probe. Analyses of partial amphiploids confirmed previous results indicating mitotic instability, with a tendency to stabilize at 2n = 42 or 56. GISH with Th. ponticum genomic DNA showed that in one hybrid derivative, with lower chromosome numbers (2n = 42-45, chromosomes were not labeled, whereas in the hybrids with 2n = 48-56 up to 14 chromosomes were labeled. These data suggest that the original chromosome set of these hybrids was 2n = 56, and that chromosomes from both genomes were lost by mitotic instability. FISH using the rDNA probes and GISH with Thinopyrum genomic DNA suggested that cells with 2n = 56 contained an entire wheat genome plus two monoploid chromosome sets of Th. ponticum.

  14. 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. Copyright © 2012 S. Karger AG, Basel.

  15. Chromosome abnormalities in colorectal adenomas: two cytogenetic subgroups characterized by deletion of 1p and numerical aberrations

    DEFF Research Database (Denmark)

    Bomme, L; Bardi, G; Pandis, N

    1996-01-01

    Cytogenetic analysis of short-term cultures from 34 benign colorectal polyps, all histologically verified as adenomas, revealed clonal chromosome aberrations in 21 of them. Eight polyps had structural rearrangements, whereas only numerical changes were found in 13. A combination of structural...

  16. 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

  17. 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 cy...

  18. 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

  19. Emerging molecular cytogenetic technologies.

    Science.gov (United States)

    Chang, S S; Mark, H F

    1997-01-01

    Fluorescent in situ hybridization (FISH) as an adjunct technique to conventional banding techniques has been firmly established in the past few years. The many clinical and research applications of FISH include chromosome enumeration using alpha-satellite probes, marker identification, gene mapping and 'chromosome painting' in the delineation of complex structural chromosomal abnormalities. Comparative genomic hybridization (CGH) is a relatively new FISH-based technique which can detect gains and losses of whole chromosomes and subchromosomal regions. Like CGH, which can scan the whole genome without prior knowledge of specific chromosomal abnormalities, spectral karyotyping (SKY) confers on each chromosome a distinct colour to enable identification of even cryptic chromosomal rearrangements. The present paper introduces and summarizes these emerging molecular cytogenetic techniques.

  20. Molecular Cytogenetic Characterization of an inv(Y)(p11.2q11.221∼q11.222) in a Syrian Family.

    Science.gov (United States)

    Al-Achkar, W; Wafa, A; Al-Ablog, A; Moassass, F; Liehr, T

    2013-12-01

    Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility, congenital anomalies and mental retardation in humans. Pericentric inversions of the human Y-chromosome [inv(Y)] are rather common and show an estimated incidence of 0.6-1:1,000 in males in the general population. Most of the reported cases with inv(Y) are familial. For carriers of pericentric inversions the risk of mental retardation or multiple abortions is not apparently increased and there is no relation with abnormal phenotypic features. Polymerase chain reaction (PCR) analysis to detect microdeletions along the Y-chromosome as well as cytogenetic and fluorescence in situ hybridization (FISH) analysis were done to delineate the characteristics of an inv(Y) in a Syrian family. Thus, we present a detailed molecular-cytogenetic characterization of a father and his two sons having an inv(Y)(p11. 2q11.221∼q11.222) with varying mental retardation features but otherwise normal phenotype.

  1. Spontaneous chromosomal aberrations in Fanconi anaemia, ataxia telangiectasia fibroblast and Bloom's syndrome lymphoblastoid cell lines as detected by conventional cytogenetic analysis and fluorescence in situ hybridisation (FISH) technique.

    Science.gov (United States)

    Sakamoto Hojo, E T; van Diemen, P C; Darroudi, F; Natarajan, A T

    1995-02-01

    Several primary and transformed human cell lines derived from cancer prone patients are employed routinely for biochemical and DNA repair studies. Since transformation leads to some chromosomal instability a cytogenetic analysis of spontaneous chromosome aberrations in fibroblast cell lines derived from patients with Fanconi anaemia (FA), ataxia telangiectasia (AT), and in lymphoblastoid cell lines derived from patients with Bloom's syndrome (BS), was undertaken. Unstable aberrations were analysed in Giemsa stained preparations and the chromosome painting technique was used for evaluating the frequencies of stable aberrations (translocations). In addition, the frequency of sister-chromatid exchanges (SCEs) was determined in differentially stained metaphases. The SV40-transformed fibroblasts from these cell lines have higher frequencies of unstable aberrations than the primary fibroblasts. In the four lymphoblastoid cell lines derived from BS patients higher frequencies of spontaneously occurring chromosomal aberrations in comparison to normal TK6wt cells were also evident. The frequency of spontaneously occurring chromosome translocations was determined with fluorescence in situ hybridisation (FISH) and using DNA libraries specific for chromosomes 1, 2, 3, 4, 7, 8, 11, 14, 19, 20 and X. The translocation levels were found to be elevated for primary FA fibroblasts and lymphoblastoid cells derived from BS patients in comparison with control cell lines, hetero- and homozygote BS cell lines not differing in this respect. The SV40-transformed cell lines showed very high frequencies of translocations independent of their origin and almost every cell contained at least one translocation. In addition, clonal translocations were found in transformed control TK6wt and AT cell lines for chromosomes 20 and 14, respectively. The spontaneous frequencies of SCEs were similar in transformed fibroblasts derived from normal individuals and AT patients, whereas in SV40-transformed FA

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

    Directory of Open Access Journals (Sweden)

    Yuxiang Wu

    Full Text Available 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.

  3. 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.

  4. [Cytogenetics role in pediatrics].

    Science.gov (United States)

    Gallego, Marta S

    2011-08-01

    Cytogenetics has led to the discovery of multiple chromosomal anomalies associated with mental retardation and hemato-oncologic diseases. From the beginning till now, and with the contribution of the molecular biology, there has been an improvement of the classic cytogenetics, that allow cytogenetists to perform a more precise diagnosis. The present study briefly describe classic and molecular cytogenetic techniques, their advantages and disadvantages, and the application to clinic pediatrics diagnosis.

  5. 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. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. Cryptic BCR-ABL fusion gene as variant rearrangement in chronic myeloid leukemia: molecular cytogenetic characterization and influence on TKIs therapy.

    Science.gov (United States)

    Luatti, Simona; Baldazzi, Carmen; Marzocchi, Giulia; Ameli, Gaia; Bochicchio, Maria Teresa; Soverini, Simona; Castagnetti, Fausto; Tiribelli, Mario; Gugliotta, Gabriele; Martinelli, Giovanni; Baccarani, Michele; Cavo, Michele; Rosti, Gianantonio; Testoni, Nicoletta

    2017-05-02

    At diagnosis, about 5% of Chronic Myeloid Leukemia (CML) patients lacks Philadelphia chromosome (Ph), despite the presence of the BCR/ABL rearrangement. Two mechanisms have been proposed about the occurrence of this rearrangement: the first one is a cryptic insertion between chromosomes 9 and 22; the second one involves two sequential translocations: a classic t(9;22) followed by a reverse translocation, which reconstitutes the normal morphology of the partner chromosomes. Out of 398 newly diagnosed CML patients, we selected 12 Ph-negative cases. Six Ph-negative patients treated with tyrosine kinase inhibitors (TKIs) were characterized, in order to study the mechanisms leading to the rearrangement and the eventual correlation with prognosis in treatment with TKIs. FISH analysis revealed cryptic insertion in 5 patients and classic translocation in the last one. In more detail, we observed 4 different patterns of rearrangement, suggesting high genetic heterogeneity of these patients. In our cases, the BCR/ABL rearrangement mapped more frequently on 9q34 region than on 22q11 region, in contrast to previous reports. Four patients, with low Sokal risk, achieved Complete Cytogenetic Response and/or Major Molecular Response after TKIs therapy. Therapy resistance was observed in one patient with duplication of BCR/ABL rearrangement and in another one with high risk. Even if the number patient is inevitably low, we can confirm that the rare Ph-negative CML patients do not constitute a "warning" category, meanwhile the presence of further cytogenetic abnormalities remains an adverse prognostic factor even in TKI era.

  7. 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.

  8. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

    Science.gov (United States)

    Callaway, Jonathan L A; Shaffer, Lisa G; Chitty, Lyn S; Rosenfeld, Jill A; Crolla, John A

    2013-01-01

    ABSTRACT The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12 362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12 362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. PMID:23983223

  9. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.

    Science.gov (United States)

    Callaway, Jonathan L A; Shaffer, Lisa G; Chitty, Lyn S; Rosenfeld, Jill A; Crolla, John A

    2013-12-01

    The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12,362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12,362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs. © 2013 John Wiley & Sons, Ltd.

  10. Characterization of two freshwater silurid catfish using conventional ...

    Indian Academy of Sciences (India)

    2011-08-19

    Aug 19, 2011 ... various organisms, although the spacer regions are less con- served. Chromosomal segments harbouring ... frequently been characterized in several organisms by inser- tions/deletions, mini-repeats and pseudogenes ... DNA was extracted from blood using phenol– chloroform–isoamyl alcohol method.

  11. Prenatal screening of cytogenetic anomalies - a Western Indian experience.

    Science.gov (United States)

    Sheth, Frenny; Rahman, Mizanur; Liehr, Thomas; Desai, Manisha; Patel, Bhumika; Modi, Chirag; Trivedi, Sunil; Sheth, Jayesh

    2015-04-12

    Children born with congenital anomalies present a very high rate of perinatal death and neonatal mortality. Cytogenetic analysis is a convincing investigation along with clinical suspicion and biochemical screening tests. The current study was designed to characterize the prevalence and types of chromosomal abnormalities in high risk prenatal samples using different cytogenetic techniques. This study was conducted on a total of 1,728 prenatal samples (1,324 amniotic fluids, 366 chorionic villi and 38 cord blood samples) from 1994 to 2014 at Institute of Human Genetics, Ahmedabad, India. Conventional karyotyping was conducted with GTG-banding. Molecular approaches were used (fluorescence in situ hybridization = FISH and/ or array-comparative genomic hybridization = aCGH) when indicated to detect karyotypic abnormalities. Abnormal karyotypes were detected in 125/1,728 (7.2%) cases. Trisomy 21 was the most common abnormality detected in 46 (2.7%) followed by trisomy 18 in 11 (0.6%) and trisomy 13 in 2 (0.1%) samples. Besides, structural abnormalities such as reciprocal and Robertsonian translocation were detected in 20 [1.2%] cases. Turner syndrome was diagnosed in seven (0.4%) cases; in six (0.34%) cases there was an inversion in the Y-chromosome. Heteromorphic variants were diagnosed in 22 (1.3%) cases. Finally, small supernumerary marker chromosomes (sSMC) were found in six (0.34%) cases. Conventional GTG-banding along with molecular cytogenetic techniques is useful in detecting genomic alterations and rearrangements. Comprehensive characterization of chromosomal rearrangements like sSMC has the potential to save potentially healthy fetuses from being terminated.

  12. Characterization of reservoir fractures using conventional geophysical logging

    Directory of Open Access Journals (Sweden)

    Paitoon Laongsakul

    2011-04-01

    Full Text Available In hydrocarbon exploration fractures play an important role as possible pathways for the hydrocarbon flow and bythis enhancing the overall formation’s permeability. Advanced logging methods for fracture analysis, like the boreholeacoustic televiewer and Formation Microscanner (FMS are available, but these are additional and expensive tools. However,open and with water or hydrocarbon filled fractures are also sensitive to electrical and other conventional logging methods.For this study conventional logging data (electric, seismic, etc were available plus additional fracture information from FMS.Taking into account the borehole environment the results show that the micro-spherically focused log indicates fractures byshowing low resistivity spikes opposite open fractures, and high resistivity spikes opposite sealed ones. Compressional andshear wave velocities are reduced when passing trough the fracture zone, which are assumed to be more or less perpendicularto borehole axis. The photoelectric absorption curve exhibit a very sharp peak in front of a fracture filled with bariteloaded mud cake. The density log shows low density spikes that are not seen by the neutron log, usually where fractures,large vugs, or caverns exist. Borehole breakouts can cause a similar effect on the logging response than fractures, but fracturesare often present when this occurs. The fracture index calculation by using threshold and input weight was calculatedand there was in general a good agreement with the fracture data from FMS especially in fracture zones, which mainlycontribute to the hydraulic system of the reservoir. Finally, the overall results from this study using one well are promising,however further research in the combination of different tools for fracture identification is recommended as well as the useof core for further validation.

  13. 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.

  14. Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: a retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization.

    Science.gov (United States)

    Shearer, Brandon M; Thorland, Erik C; Carlson, Austin W; Jalal, Syed M; Ketterling, Rhett P

    2011-06-01

    The use of chromosome analysis on products of conception from spontaneous abortions is recommended to identify a genetic etiology. However, 20% of products of conception cultures are unsuccessful due to microbial contamination or lack of viable dividing cells. Our laboratory implemented a reflex fluorescent in situ hybridization (FISH) assay to detect numeric chromosome abnormalities for unsuccessful cultures. All products of conception samples were simultaneously processed for both chromosome analysis and FISH analysis. If the chromosome analysis was unsuccessful, interphase FISH was performed for chromosomes 13, 16, 18, 21, 22, X, and Y. To assess the performance of the FISH assay, a 3-year retrospective comparative analysis of the FISH results versus chromosome results was performed. Of 5555 total specimens, 4189 (75%) represented chorionic villi/fetal tissue and 1366 (25%) represented tissue of unidentified origin. Of the 1189 tissues of unidentified origin with chromosome or FISH results, 1096 (92%) were XX, indicating that the majority of these tissues are likely maternal in origin. Of the 3361 successful chromosome studies on the chorionic villi/fetal tissue specimens, 1734 (52%) samples had a chromosome abnormality. Of the 762 successful FISH studies on chorionic villi/fetal tissue specimens that were unsuccessful by chromosome studies, 181 (25%) had an abnormal result with the targeted FISH panel. Overall, the FISH panel detected approximately 70% of the chromosome abnormalities in products of conception detectable by karyotype. When the FISH panel results were combined with chromosome analysis for the 4189 chorionic villi/fetal tissue specimens, the overall abnormality rate is 47%. Our reflex FISH assay proved useful for the detection of common chromosome aneuploidies in products of conception samples that failed conventional chromosome analysis. Because of its limited view of the genome, cautious interpretation of FISH results is required for all samples

  15. Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter)

    OpenAIRE

    Chen, Chih-Ping; Hung, Fung-Yu; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Lee, Chen-Chi; Wang, Wayseen

    2016-01-01

    Objective: To present the prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation. Case Report: A 37-year-old woman, G3P1, underwent amniocentesis at 17 weeks of gestation because of her advanced maternal age. Her husband was 38 years old. Amniocentesis revealed a derivative chromosome 3 with the deletion of terminal 3p and the addendum of an unknown extra chromosomal segment on the distal 3p. The parental karyotypes were normal. Prena...

  16. Clinical utility of contemporary molecular cytogenetics.

    Science.gov (United States)

    Bejjani, Bassem A; Shaffer, Lisa G

    2008-01-01

    The development of microarray-based comparative genomic hybridization (array CGH) methods represents a critical new advance in molecular cytogenetics. This new technology has driven a technical convergence between molecular diagnostics and clinical cytogenetics, questioned our naïve understanding of the complexity of the human genome, revolutionized the practice of medical genetics, challenged conventional wisdom related to the genetic bases of multifactorial and sporadic conditions, and is poised to impact all areas of medicine. The use of contemporary molecular cytogenetic techniques in research and diagnostics has resulted in the identification of many new syndromes, expanded our knowledge about the phenotypic spectrum of recognizable syndromes, elucidated the genomic bases of well-established clinical conditions, and refined our view about the molecular mechanisms of some chromosomal aberrations. Newer methodologies are being developed, which will likely lead to a new understanding of the genome and its relationship to health and disease.

  17. Dynamic Analysis & Characterization of Conventional Hydraulic Power Supply Units

    DEFF Research Database (Denmark)

    Schmidt, Lasse; Liedhegener, Michael; Bech, Michael Møller

    2016-01-01

    Hydraulic power units operated as constant supply pres-sure systems remain to be widely used in the industry, to supply valve controlled hydraulic drives etc., where the hydraulic power units are constituted by variable pumps with mechanical outlet pressure control, driven by induction motors...... such that limited impact on the drive dynamics is observed. Such ideal properties however, are not necessarily present in industrial hydraulic applications for various reasons, with the most common being large volumes of supply lines. Long supply lines, hence large supply line volumes, between the sup-ply system...... with internal pi-lot supply are used. This paper is concerned with the analysis and characterization of the coupled pump-induction motor dy-namics, confined to hydraulic power units constituted by an axial piston pump with mechanical outlet pressure control, driven by an induction motor operated at grid...

  18. 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

  19. Prenatal diagnosis: molecular genetics and cytogenetics.

    Science.gov (United States)

    Bui, The-Hung; Blennow, Elisabeth; Nordenskjöld, Magnus

    2002-10-01

    The technologies developed for the Human Genome Project, the recent surge of available DNA sequences resulting from it and the increasing pace of gene discoveries and characterization have all contributed to new technical platforms that have enhanced the spectrum of disorders that can be diagnosed prenatally. The importance of determining the disease-causing mutation or the informativeness of linked genetic markers before embarking upon a DNA-based prenatal diagnosis is, however, still emphasized. Different fluorescence in situ hybridization (FISH) technologies provide increased resolution for the elucidation of structural chromosome abnormalities that cannot be resolved by more conventional cytogenetic analyses, including microdeletion syndromes, cryptic or subtle duplications and translocations, complex rearrangements involving many chromosomes, and marker chromosomes. Interphase FISH and the quantitative fluorescence polymerase chain reaction are efficient tools for the rapid prenatal diagnosis of selected aneuploidies, the latter being considered to be most cost-effective if analyses are performed on a large scale. There is some debate surrounding whether this approach should be employed as an adjunct to karyotyping or whether it should be used as a stand-alone test in selected groups of women.

  20. 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.

  1. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

    Science.gov (United States)

    Cheng, Sabrina F; Rauen, Katherine A; Pinkel, Daniel; Albertson, Donna G; Cotter, Philip D

    2005-06-15

    Males with duplications within the long arm of the X chromosome are rare and most cases are inherited from a maternal heterozygote. We report a male with a de novo Xq duplication and review of the literature. The proband was ascertained prenatally after an abnormal expanded alpha-fetoprotein (AFP) screen and abnormal ultrasound findings. Chromosome analysis on amniocyte and subsequent peripheral blood lymphocyte cultures showed a male karyotype containing additional material on the long arm of the X chromosome. Fluorescence in situ hybridization with an X chromosome whole chromosome paint probe showed that the additional material was derived from the X chromosome, interpreted as a dup(X)(q13.3q24). Further characterization of the duplication by array CGH showed a duplication size between 30-44 Mb as determined by the map position of the flanking clones on the array, and refined the breakpoints of the duplicated region to Xq21.32 --> Xq25. At birth, the proband had multiple craniofacial abnormalities, musculoskeletal anomalies, bilateral cryptorchidism with scrotal hypoplasia, conductive hearing loss, and profound generalized hypotonia despite normal birthweight, length, and head circumference. Although data regarding Xq duplications in males are limited, a clear pattern of characteristic features can be discerned as illustrated in the present case and confirmed in our literature review. Mental, psychomotor and growth retardation, as well as, craniofacial anomalies, muscle hypotonia, hypoplastic genitalia, cryptorchidism, feeding difficulties, and endocrine dysfunction are all significant issues in these individuals.

  2. Cytogenetics and experimental models.

    Science.gov (United States)

    Toretsky, J A; Helman, L J

    1997-07-01

    The use of cytogenetics has led to significant improvement in the diagnoses and classification of sarcomas. Many of the major sarcomas have been to have characteristic tumor-specific chromosomal translocations that are currently used in the diagnosis of these tumors. In the past year, a subset of Ewing's family of tumors and myxoid liposarcomas, which lack one of the characteristic translocations, were found to carry related translocations. New technologies such as a spectral karyotyping will likely increase out ability to identify additional tumor-specific translocations. The emergence of genetic alterations as prognostic factors, as illustrated by Ewing's family of tumors, osteosarcoma, and p53 expression in soft tissue sarcomas in general, is discussed. The review concludes with laboratory applications derived from either tumor cytogenetic or gene function abnormalities that are related to tumor-specific translocations. It is anticipated that advances in diagnosis, prognosis, and modeling will translate into future therapeutic advances.

  3. Cancer Cytogenetics: Methodology Revisited

    OpenAIRE

    Wan, Thomas S. K.

    2014-01-01

    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 ...

  4. Cancer Cytogenetics: An Introduction.

    Science.gov (United States)

    Wan, Thomas S K

    2017-01-01

    The Philadelphia chromosome was the first chromosomal abnormality discovered in cancer using the cytogenetics technique in 1960, and was consistently associated with chronic myeloid leukemia. Over the past five decades, innovative technical advances in the field of cancer cytogenetics have greatly enhanced the detection ability of chromosomal alterations, and have facilitated the research and diagnostic potential of chromosomal studies in neoplasms. These developments notwithstanding, chromosome analysis of a single cell is still the easiest way to delineate and understand the relationship between clonal evolution and disease progression of cancer cells. The use of advanced fluorescence in situ hybridization (FISH) techniques allows for the further identification of chromosomal alterations that are unresolved by the karyotyping method. It overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Subsequently, the development of DNA microarray technologies provides a high-resolution view of the whole genome, which may add massive amounts of new information and opens the field of cancer cytogenomics. Strikingly, cancer cytogenetics does not only provide key information to improve the care of patients with malignancies, but also acts as a guide to identify the genes responsible for the development of these neoplastic states and has led to the emergence of molecularly targeted therapies in the field of personalized medicine.

  5. Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.

    Science.gov (United States)

    Chen, Chih-Ping; Chen, Chen-Yu; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Lee, Chen-Chi; Town, Dai-Dyi; Lee, Meng-Shan; Yang, Chien-Wen; Wang, Wayseen

    2016-10-01

    We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22.31;?). The pregnancy was subsequently terminated, and a malformed fetus was delivered with short stature and facial dysmorphism. Repeat amniocentesis was performed before termination of the pregnancy. Array comparative genomic hybridization was performed on uncultured amniocytes and maternal blood. Conventional cytogenetic analysis was performed on cultured amniocytes, cord blood, and blood from both parents. Fluorescence in situ hybridization was performed on cultured amniocytes. The maternal karyotype was 46,X,inv(X)(p22.3q26.3). The fetal karyotype was 46,Y, rec(X)dup(Xq)inv(X)(p22.3q26.3) or 46,Y, rec(X)(qter→q26.3::p22.3→qter). Array comparative genomic hybridization on uncultured amniocytes revealed a 4.56-Mb deletion of Xp22.33-p22.32 encompassing SHOX, CSF2RA, and ARSE, and a 19.22-Mb duplication of Xq26.3-q28 encompassing SOX3, FMR1, MECP2, RAB39B, and CLIC2 in the fetus. The mother did not have X chromosome imbalance. Detection of X chromosome aberration in a male fetus should give suspicion of a recombinant X chromosome derived from maternal X chromosome pericentric inversion. Copyright © 2016. Published by Elsevier B.V.

  6. The importance of cytogenetics and associated molecular techniques in the management of patients with leukaemia.

    Science.gov (United States)

    Harrison, C J; Secker-Walker, L M

    1998-01-01

    The cytogenetic analysis of haematological malignancies plays a major role in diagnosis. A large number of non-random chromosomal abnormalities are associated with specific types of leukaemia. Often, the cytogenetic result provides the definitive diagnosis. The recent developments in molecular cytogenetic technologies, in association with conventional cytogenetic analysis, have improved the accuracy of the results and led to the finding of new chromosomal abnormalities in leukaemia. Patients may be monitored by cytogenetics, molecular techniques and/or fluorescence in situ hybridization (FISH) during the course of their management, for evidence of minimal residual disease. These techniques also provide a useful method for monitoring patients following bone marrow transplantation, particularly when the patient and the donor are of the opposite sex. The cytogenetic result is an independent prognostic indicator, with certain karyotypes associated with a good prognosis, although others indicate a poor outcome.

  7. 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.

  8. Intratumoral genetic heterogeneity and number of cytogenetic aberrations provide additional prognostic significance in chronic lymphocytic leukemia.

    Science.gov (United States)

    Yi, Shuhua; Li, Zengjun; Zou, Dehui; An, Gang; Cui, Rui; Zhong, Shizhen; Li, Heng; Xiong, Wenjie; Li, Chenwen; Chen, Weiwei; Liu, Wei; Lv, Rui; Yu, Zhen; Wang, Huijun; Xu, Yan; Zhou, Keshu; Ru, Kun; Wang, Jianxiang; Cheng, Tao; Qiu, Lugui

    2017-02-01

    Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with cytogenetic aberrations that are still considered the gold standard of prognostic factors. However, heterogeneity remains within each cytogenetic group, especially in patients with concomitant cytogenetic aberrations. A panel of DNA probes was used to detect cytogenetic aberrations, including RB1/D13S25 at 13q14, ATM at 11q22, TP53 at 17p13, CEP12 and IGH translocation at 14q32, by fluorescence in situ hybridization. A comprehensive method integrating the number of cytogenetic aberrations and intratumoral genetic heterogeneity was used to analyze the prognosis for patients with concomitant aberrations. Within the conventional favorable or neutral prognostic groups (i.e., with del 13q, trisomy 12, and/or t(14q32)), the coincidence of these three aberrations worsened survival in terms of time to first therapy, progression-free survival, and overall survival. However, within the conventional unfavorable prognostic group (i.e., del 11q or del 17p), patients with a minor unfavorable clone had an unexpected survival advantage compared with patients with a major unfavorable clone. A new cytogenetic prognostic system that integrates the number of cytogenetic aberrations and intratumoral genetic subclones was more precise than the conventional system. The number of cytogenetic aberrations and the size of intratumoral genetic subclones should be comprehensively considered to determine the prognosis for CLL.Genet Med 19 2, 182-191.

  9. Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.

    Science.gov (United States)

    Chen, Chih-Ping; Wang, Liang-Kai; Wu, Pei-Chen; Chang, Tung-Yao; Chern, Schu-Rern; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Shin-Wen; Lee, Chen-Chi; Yang, Chien-Wen; Wang, Wayseen

    2017-02-01

    We present molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle (DORV), hypoplastic left heart syndrome (HLHS), and ductus venosus (DV) agenesis on prenatal ultrasound. A 26-year-old woman underwent prenatal ultrasound examination at 22 weeks of gestation, which revealed intrauterine growth restriction, short femurs, DORV, HLHS, DV agenesis, single umbilical artery, and curly fourth toe of the left foot. The parents elected to terminate the pregnancy, and a 500-g female fetus was delivered at 23 weeks of gestation with facial dysmorphism, bilateral camptodactyly, and hammertoes. The parental karyotypes were normal. Cytogenetic analysis of the cord blood and umbilical cord revealed a karyotype of 46,XX,del(11)(q23). Array comparative genomic hybridization analysis of the DNA extracted from the umbilical cord revealed a 14.38-Mb deletion of 11q23.3-q25 encompassing BSX, ETS1, FLI1, and ARHGAP32. Metaphase fluorescence in situ hybridization analysis using the probes RP11-209L12 (11q25) and RP11-25M7 (11q11) showed a distal 11q deletion in the aberrant chromosome 11 in 17/17 cells examined. Prenatal diagnosis of DORV, HLHS, DV agenesis associated with intrauterine growth restriction and short limbs should include a differential diagnosis of Jacobsen syndrome. Copyright © 2017 Taiwan Association of Obstetrics & Gynecology. Published by Elsevier B.V. All rights reserved.

  10. 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.

  11. Synthesis and characterization of conventional and mesoporous Ga-MFI for ethane dehydrogenation

    DEFF Research Database (Denmark)

    Leth, Karen Thrane; Rovik, Anne Krogh; Holm, Martin Spangsberg

    2008-01-01

    Gallium was for the first time incorporated into the crystal structure of a mesoporous MFI zeolite. As a reference material, a well-defined conventional MFI zeolite with gallium incorporated was also synthesized. The materials were characterized by XRPD, NH3-TPD, elemental analysis, N-2 physisorp......Gallium was for the first time incorporated into the crystal structure of a mesoporous MFI zeolite. As a reference material, a well-defined conventional MFI zeolite with gallium incorporated was also synthesized. The materials were characterized by XRPD, NH3-TPD, elemental analysis, N-2...... physisorption measurements, SEM, FT-IR as well as Si-29 and Ga-71 MAS NMR spectroscopy. The Ga contents correspond to molar ratios of Si/Ga = 43 and 38 for the conventional and mesoporous Ga-MFI, respectively. The different types of analysis show that two almost identical zeolites were synthesized, the main...... difference being the morphology of the crystals. The catalytic properties of the samples were tested in ethane dehydrogenation at 823 K and at atmospheric pressure. The two Ga-MFI samples differ greatly in conversion of ethane, as a result of their difference in porosity, and it is found that the conversion...

  12. Synthesis and characterization of conventional and mesoporous Ga-MFI for ethane dehydrogenation

    DEFF Research Database (Denmark)

    Leth, Karen Thrane; Rovik, Anne Krogh; Holm, Martin Spangsberg

    2008-01-01

      Gallium was for the first time incorporated into the crystal structure of a mesoporous MFI zeolite. As a reference material, a well defined conventional MFI zeolite with gallium incorporated was also synthesized. The materials were characterized by XRPD, NH3-TPD, elemental analysis, N2 physisor......  Gallium was for the first time incorporated into the crystal structure of a mesoporous MFI zeolite. As a reference material, a well defined conventional MFI zeolite with gallium incorporated was also synthesized. The materials were characterized by XRPD, NH3-TPD, elemental analysis, N2...... physisorption measurements, SEM, FT-IR as well as 29Si and 71Ga MAS NMR spectroscopy. The Ga contents correspond to molar ratios of Si/Ga= 43 and Si/Ga= 38 for the conventional and mesoporous Ga-MFI, respectively. The different types of analysis show that two almost identical zeolites were synthesized, the main...... difference being the morphology of the crystals. The catalytic properties of the samples were tested in ethane dehydrogenation at 823 K and at atmospheric pressure. The two Ga-MFI samples differ greatly in conversion of ethane, as a result of their difference in porosity, and it is found that the conversion...

  13. Molecular Cytogenetic Characterization of Novel Wheat-rye T1RS.1BL Translocation Lines with High Resistance to Diseases and Great Agronomic Traits

    Directory of Open Access Journals (Sweden)

    Tianheng Ren

    2017-05-01

    Full Text Available Rye has been used worldwide as a source for the genetic improvement of wheat. In this study, two stable wheat-rye primary T1RS.1BL translocation lines were selected from the progeny of the crossing of the wheat cultivar Mianyang11-1 and a Chinese local rye variety, Weining. These two novel translocation lines were identified by molecular cytogenetic analysis. PCR results, multi-color fluorescence in situ hybridization (MC-FISH, and acid polyacrylamide gel electrophoresis (A-PAGE indicated that both new translocation lines harbor a pair of T1RS.1BL translocation chromosomes, and have been named RT828-10 and RT828-11, respectively. The cytogenetic results also indicated that the pSc119.2 signals of 5AL were absent in both lines along with the pSc119.2 signals of 4AL of RT828-11. When inoculated with different stripe rust and powdery mildew isolates, both lines expressed high resistance to Puccinia striiformis f. sp. tritici and Blumeria graminis f. sp. tritici pathotypes, which are prevalent in China and are virulent on Yr9 and Pm8. The line RT828-11 also exhibited excellent agronomic traits in the field. The present study indicates that this rye variety may carry untapped variations that could potentially be used for wheat improvement.

  14. [Cytogenetics of myelodysplastic syndromes and its impact as prognostic factor].

    Science.gov (United States)

    Borjas-Gutiérrez, César; Domínguez-Cruz, Martín Daniel; González-García, Juan Ramón

    2017-01-01

    Myelodysplastic syndromes (MDS) are a group of disorders of the hematopoietic stem cell. They are characterized by cytopenia(s), dysplasia of one or more cell lines, ineffective hematopoiesis, and an increased risk for developing acute myelogenous leukemia. The classification of MDS has been complicated due to the great heterogeneity in clinical phenotype as well as in the morphological and cytogenetic characteristics. The prognostic value of cytogenetic abnormalities in MDS has been analyzed in multicenter studies. This approach raised the development of the revised International Prognostic Scoring System (IPSS-R), which analyzes five prognostic variables, among which the cytogenetic study stands out. According to the cytogenetic findings, a classification of MDS in five subgroups was developed. Knowledge of the cytogenetic abnormalities has led to the study of genes involved in various chromosomal rearrangements. Moreover, DNA sequencing has helped to identify mutations in approximately 50 genes related to signal transduction, DNA methylation, transcriptional regulation, and RNA splicing. Therefore, the cytogenetic study should be used to improve the classification and therapeutic management of MDS. This approach will be an essential tool for the development of targeted therapy protocols.

  15. Conventional research house planning, acquisition, instrumentation, and characterization tests. Topical report, December 1983-August 1986

    Energy Technology Data Exchange (ETDEWEB)

    Zawacki, T.S.; Foote, D.F.; Ketels, P.A.; Banasiuk, H.; Elkins, R.H.

    1987-03-01

    A 30-year-old, one-story, detached, single-family dwelling, with full basement, three bedrooms, and a floor area of 1150 square feet, was acquired, instrumented, and was characterized during the 1985-86 heating season. This conventional research house is located in Chicago, Illinois, and was selected because it is typical of a very large segment of existing houses in the East-North-Central region of the U.S. For the heating-characterization test, the house was equipped with a natural-gas-fired, central forced-air, power-vented, heat-pipe furnace and a storage water heater; a powered humidifier; electronic air cleaner; and a central electric air conditioner. The results of these tests will serve as the baseline for testing zoned warm-air furnaces, desiccant cooling, gas-fired heat pumps, and other advanced gas appliances.

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  18. Chemical and physical characterization of produced waters from conventional and unconventional fossil fuel resources.

    Science.gov (United States)

    Alley, Bethany; Beebe, Alex; Rodgers, John; Castle, James W

    2011-09-01

    Characterization of produced waters (PWs) is an initial step for determining potential beneficial uses such as irrigation and surface water discharge at some sites. A meta-analysis of characteristics of five PW sources [i.e. shale gas (SGPWs), conventional natural gas (NGPWs), conventional oil (OPWs), coal-bed methane (CBMPWs), tight gas sands (TGSPWs)] was conducted from peer-reviewed literature, government or industry documents, book chapters, internet sources, analytical records from industry, and analyses of PW samples. This meta-analysis assembled a large dataset to extract information of interest such as differences and similarities in constituent and constituent concentrations across these sources of PWs. The PW data analyzed were comprised of 377 coal-bed methane, 165 oilfield, 137 tight gas sand, 4000 natural gas, and 541 shale gas records. Majority of SGPWs, NGPWs, OPWs, and TGSPWs contain chloride concentrations ranging from saline (>30000 mg L(-1)) to hypersaline (>40000 mg L(-1)), while most CBMPWs were fresh (use, while some PWs are brackish (5000-30000 mg Cl(-) L(-1)) to saline containing metals and metalloids that may require considerable treatment. Other PWs are hypersaline and produce a considerable waste stream from reverse osmosis; remediation of these waters may not be feasible. After renovation, fresh to saline PWs may be used for irrigation and replenishing surface waters. Copyright © 2011 Elsevier Ltd. All rights reserved.

  19. Cytogenetic report of a male breast cancer

    DEFF Research Database (Denmark)

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

    1995-01-01

    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.......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...

  20. Cytogenetics of Bloom's syndrome.

    Science.gov (United States)

    Kuhn, E M; Therman, E

    1986-05-01

    The quantitative aspects of Bloom's syndrome cytogenetics are reviewed. The most characteristic feature is an increased rate of homologous chromatid exchange, both sister chromatid exchange and mitotic crossing-over. Other phenomena are a tendency of somatic cells to fuse, an increased rate of chromosome breaks, often with sister chromatid reunion, formation of nonhomologous quadriradials, and occurrence of allocyclic and triradial chromosomes. Mitotic chiasmata are situated highly nonrandomly, preferably in Q-dark regions. Chromosomes containing chiasma "hot-spots" appear to contain more active genes than similarly sized control chromosomes. They also contain a high proportion of localized oncogenes. Bloom's syndrome homozygotes show a high incidence of cancer (1/4). This may depend on a) the high rate of homozygosity resulting from mitotic crossing-over, which would allow the expression of recessive cancer genes; b) unequal crossing-over would amplify these genes; c) chromosome structural changes that might transfer oncogenes to new locations and, thus, activate them; and d) immunodeficiency, which would promote malignant growth.

  1. 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.

  2. Preparation, characterization and catalytic properties of nickel aluminate nanoparticles: A comparison between conventional and microwave method

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    C. Ragupathi

    2017-01-01

    Full Text Available In the present work, synthesis of nickel aluminate using Opuntia dilenii haw as plant extract by a microwave combustion method (MCM and its comparison with the conventional combustion method (CCM is investigated. O. dilenii haw plant extract simplifies the process, provides an alternative process for a simple and an economical synthesis. The absence of surfactant has led to a simple, cheap and fast method of synthesis of NiAl2O4 nanoparticles. The as-synthesized NiAl2O4 nanoparticles were characterized by X-ray diffraction (XRD studies, Fourier transform infrared spectroscopy (FT-IR studies, high resolution scanning electron microscopy (HR-SEM, energy dispersive X-ray analysis (EDX, high resolution transmission electron microscopy (HR-TEM, diffuses reflectance spectroscopy (DRS, and Brunauer Emmett Teller (BET surface area analysis. The XRD results confirmed the formation of the cubic phase NiAl2O4. The formation of pure nickel aluminate phase was confirmed by FT-IR. The formation of NiAl2O4 nanoparticles was confirmed by HR-SEM and HR-TEM and their possible formation mechanisms were also proposed. MCM could produce NiAl2O4 with uniform size and well-defined shape with crystallinity. The optical property was determined by DRS. NiAl2O4 prepared by the microwave combustion method was found to possess a higher surface area, lower crystallite size than the NiAl2O4 nanoparticles prepared by the conventional combustion method, which in turn has led to the improved performance toward the selective oxidation of benzyl alcohol to benzaldehyde.

  3. An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness

    Science.gov (United States)

    Cavallari, Maurizio; Quaglia, Francesca Maria; Lista, Enrico; Urso, Antonio; Guardalben, Emanuele; Martinelli, Sara; Saccenti, Elena; Bassi, Cristian; Lupini, Laura; Bardi, Maria Antonella; Volta, Eleonora; Tammiso, Elisa; Melandri, Aurora; Negrini, Massimo

    2017-01-01

    We investigated whether karyotype analysis and mutational screening by next generation sequencing could predict outcome in 101 newly diagnosed chronic lymphocytic leukemia patients with high-risk features, as defined by the presence of unmutated IGHV gene and/or 11q22/17p13 deletion by FISH and/or TP53 mutations. Cytogenetic analysis showed favorable findings (normal karyotype and isolated 13q14 deletion) in 30 patients, unfavorable (complex karyotype and/or 17p13/11q22 deletion) in 34 cases and intermediate (all other abnormalities) in 36 cases. A complex karyotype was present in 21 patients. Mutations were detected in 56 cases and were associated with unmutated IGHV status (p = 0.040) and complex karyotype (p = 0.047). TP53 disruption (i.e. TP53 mutations and/or 17p13 deletion by FISH) correlated with the presence of ≥ 2 mutations (p = 0.001) and a complex karyotype (p = 0.012). By multivariate analysis, an advanced Binet stage (p karyotype (p = 0.001) predicted a shorter time to first treatment. TP53 disruption (p = 0.019) and the unfavorable karyotype (p = 0.028) predicted a worse overall survival. A shorter time to chemorefractoriness was associated with TP53 disruption (p = 0.001) and unfavorable karyotype (p = 0.025). Patients with both unfavorable karyotype and TP53 disruption presented a dismal outcome (median overall survival and time to chemorefractoriness of 28.7 and 15.0 months, respectively). In conclusion, karyotype analysis refines risk stratification in high-risk CLL patients and could identify a subset of patients with highly unfavorable outcome requiring alternative treatments. PMID:28427204

  4. 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.

  5. Detection of human aneuploidies in prenatal and postnatal diagnosis using molecular cytogenetics

    OpenAIRE

    Kucheria Kiran; Jobanputra Vaidehi; Talwar Rashmi; Ahmed M; Dada Rima; Sivakumaran T

    2002-01-01

    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 detect...

  6. 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.

    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

  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. Characterization of Conventional, Biodynamic, and Organic Purple Grape Juices by Chemical Markers, Antioxidant Capacity, and Instrumental Taste Profile

    NARCIS (Netherlands)

    Granato, D.; Margraf, T.; Brotzakis, I.; Capuano, E.; Ruth, van S.M.

    2015-01-01

    The objectives of this study were to characterize organic, biodynamic, and conventional purple grape juices (n = 31) produced in Europe based on instrumental taste profile, antioxidant activity, and some chemical markers and to propose a multivariate statistical model to analyze their quality and

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

    Directory of Open Access Journals (Sweden)

    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.

  10. 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

  11. Characterization of Antibiotic Resistance Gene Abundance and Microbiota Composition in Feces of Organic and Conventional Pigs from Four EU Countries

    DEFF Research Database (Denmark)

    Gerzova, Lenka; Babak, Vladimir; Sedlar, Karel

    2015-01-01

    to our expectations, there were no extensive differences between the abundance of tested antibiotic resistance genes in microbiota originating from organic or conventionally housed pigs within individual countries. There were also no differences in the microbiota composition of organic and conventional...... natural lifestyle implies their increased exposure to environmental sources of different microorganisms including pathogens. To address these concerns, we determined the abundance of antibiotic resistance and diversity within fecal microbiota in pigs kept under conventional and organic farming systems...... in Sweden, Denmark, France and Italy. The abundance of sul1, sul2, strA, tet(A), tet(B) and cat antibiotic resistance genes was determined in 468 samples by real-time PCR and the fecal microbiota diversity was characterized in 48 selected samples by pyrosequencing of V3/V4 regions of 16S rRNA. Contrary...

  12. Cytogenetic Prognostication Within Medulloblastoma Subgroups

    Science.gov (United States)

    Shih, David J.H.; Northcott, Paul A.; Remke, Marc; Korshunov, Andrey; Ramaswamy, Vijay; Kool, Marcel; Luu, Betty; Yao, Yuan; Wang, Xin; Dubuc, Adrian M.; Garzia, Livia; Peacock, John; Mack, Stephen C.; Wu, Xiaochong; Rolider, Adi; Morrissy, A. Sorana; Cavalli, Florence M.G.; Jones, David T.W.; Zitterbart, Karel; Faria, Claudia C.; Schüller, Ulrich; Kren, Leos; Kumabe, Toshihiro; Tominaga, Teiji; Shin Ra, Young; Garami, Miklós; Hauser, Peter; Chan, Jennifer A.; Robinson, Shenandoah; Bognár, László; Klekner, Almos; Saad, Ali G.; Liau, Linda M.; Albrecht, Steffen; Fontebasso, Adam; Cinalli, Giuseppe; De Antonellis, Pasqualino; Zollo, Massimo; Cooper, Michael K.; Thompson, Reid C.; Bailey, Simon; Lindsey, Janet C.; Di Rocco, Concezio; Massimi, Luca; Michiels, Erna M.C.; Scherer, Stephen W.; Phillips, Joanna J.; Gupta, Nalin; Fan, Xing; Muraszko, Karin M.; Vibhakar, Rajeev; Eberhart, Charles G.; Fouladi, Maryam; Lach, Boleslaw; Jung, Shin; Wechsler-Reya, Robert J.; Fèvre-Montange, Michelle; Jouvet, Anne; Jabado, Nada; Pollack, Ian F.; Weiss, William A.; Lee, Ji-Yeoun; Cho, Byung-Kyu; Kim, Seung-Ki; Wang, Kyu-Chang; Leonard, Jeffrey R.; Rubin, Joshua B.; de Torres, Carmen; Lavarino, Cinzia; Mora, Jaume; Cho, Yoon-Jae; Tabori, Uri; Olson, James M.; Gajjar, Amar; Packer, Roger J.; Rutkowski, Stefan; Pomeroy, Scott L.; French, Pim J.; Kloosterhof, Nanne K.; Kros, Johan M.; Van Meir, Erwin G.; Clifford, Steven C.; Bourdeaut, Franck; Delattre, Olivier; Doz, François F.; Hawkins, Cynthia E.; Malkin, David; Grajkowska, Wieslawa A.; Perek-Polnik, Marta; Bouffet, Eric; Rutka, James T.; Pfister, Stefan M.; Taylor, Michael D.

    2014-01-01

    Purpose Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, and histologic variant. Stark prognostic and genetic differences among the four subgroups suggest that subgroup-specific molecular biomarkers could improve patient prognostication. Patients and Methods Molecular biomarkers were identified from a discovery set of 673 medulloblastomas from 43 cities around the world. Combined risk stratification models were designed based on clinical and cytogenetic biomarkers identified by multivariable Cox proportional hazards analyses. Identified biomarkers were tested using fluorescent in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray (n = 453), with subsequent validation of the risk stratification models. Results Subgroup information improves the predictive accuracy of a multivariable survival model compared with clinical biomarkers alone. Most previously published cytogenetic biomarkers are only prognostic within a single medulloblastoma subgroup. Profiling six FISH biomarkers (GLI2, MYC, chromosome 11 [chr11], chr14, 17p, and 17q) on formalin-fixed paraffin-embedded tissues, we can reliably and reproducibly identify very low-risk and very high-risk patients within SHH, Group 3, and Group 4 medulloblastomas. Conclusion Combining subgroup and cytogenetic biomarkers with established clinical biomarkers substantially improves patient prognostication, even in the context of heterogeneous clinical therapies. The prognostic significance of most molecular biomarkers is restricted to a specific subgroup. We have identified a small panel of cytogenetic biomarkers that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials. PMID

  13. Optimal Power Flow Techniques under Characterization of Conventional and Renewable Energy Sources: A Comprehensive Analysis

    Directory of Open Access Journals (Sweden)

    Baseem Khan

    2017-01-01

    Full Text Available The exhaustive knowledge of optimal power flow (OPF methods is critical for proper system operation and planning, since OPF methods are utilized for finding the optimal state of any system under system constraint conditions, such as loss minimization, reactive power limits, thermal limits of transmission lines, and reactive power optimization. Incorporating renewable energy sources optimized the power flow of system under different constraints. This work presents a comprehensive study of optimal power flows methods with conventional and renewable energy constraints. Additionally, this work presents a progress of optimal power flow solution from its beginning to its present form. Authors classify the optimal power flow methods under different constraints condition of conventional and renewable energy sources. The current and future applications of optimal power flow programs in smart system planning, operations, sensitivity calculation, and control are presented. This study will help the engineers and researchers to optimize power flow with conventional and renewable energy sources.

  14. Conventional, Bayesian, and Modified Prony's methods for characterizing fast and slow waves in equine cancellous bone

    OpenAIRE

    Groopman, Amber M.; Katz, Jonathan I.; Holland, Mark R.; Fujita, Fuminori; Matsukawa, Mami; Mizuno, Katsunori; Wear, Keith A.; Miller, James G.

    2015-01-01

    Conventional, Bayesian, and the modified least-squares Prony's plus curve-fitting (MLSP + CF) methods were applied to data acquired using 1 MHz center frequency, broadband transducers on a single equine cancellous bone specimen that was systematically shortened from 11.8 mm down to 0.5 mm for a total of 24 sample thicknesses. Due to overlapping fast and slow waves, conventional analysis methods were restricted to data from sample thicknesses ranging from 11.8 mm to 6.0 mm. In contrast, Bayesi...

  15. Characterization of Chemically and Thermally Treated Oil-in-Water Heteroaggregates and Comparison to Conventional Emulsions.

    Science.gov (United States)

    Maier, Christiane; Reichert, Corina L; Weiss, Jochen

    2016-10-01

    Heteroaggregated oil-in-water (O/W) emulsions formed by targeted combination of oppositely charged emulsion droplets were proposed to be used for the modulation of physical properties of food systems, ideally achieving the formation of a particulate 3-dimensional network at comparably low-fat content. In this study, rheological properties of Quillaja saponins (QS), sugar beet pectin (SBP), and whey protein isolate (WPI) stabilized conventional and heteroaggregated O/W emulsions at oil contents of 10% to 60% (w/w) were investigated. Selected systems having an oil content of 30% (w/w) and different particle sizes (d 43 ≤ 1.1 or ≥16.7 μm) were additionally subjected to chemical (genipin or glutaraldehyde) and thermal treatments, aiming to increase network stability. Subsequently, their rheological properties and stability were assessed. Yield stresses (τ 0 ) of both conventional and heteroaggregated O/W emulsions were found to depend on emulsifier type, oil content, and initial droplet size. For conventional emulsions, high yield stresses were only observed for SBP-based emulsions (τ 0 , SBP approximately 157 Pa). Highest yield stresses of heteroaggregates were observed when using small droplets stabilized by SBP/WPI (approximately 15.4 Pa), being higher than those of QS/WPI (approximately 1.6 Pa). Subsequent treatments led to significant alterations in rheological properties for SBP/WPI systems, with yield stresses increasing 29-fold (glutaraldehyde) and 2-fold (thermal treatment) compared to untreated heteroaggregates, thereby surpassing yield stresses of similarly treated conventional SBP emulsions. Genipin-driven treatments proved to be ineffective. Results should be of interest to food manufacturers wishing to design viscoelastic food emulsion based systems at lower oil droplet contents. © 2016 Institute of Food Technologists®.

  16. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.

    Science.gov (United States)

    Chen, Chih-Ping; Ko, Tsang-Ming; Chen, Yi-Yung; Su, Jun-Wei; Wang, Wayseen

    2013-09-15

    We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). Copyright © 2013 Elsevier B.V. All rights reserved.

  17. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

    Science.gov (United States)

    Swinkels, Mariëlle E M; Simons, Annet; Smeets, Dominique F; Vissers, Lisenka E; Veltman, Joris A; Pfundt, Rolph; de Vries, Bert B A; Faas, Brigitte H W; Schrander-Stumpel, Connie T R M; McCann, Emma; Sweeney, Elizabeth; May, Paul; Draaisma, Jos M; Knoers, Nine V; van Kessel, Ad Geurts; van Ravenswaaij-Arts, Conny M A

    2008-06-01

    The deletion 9p syndrome is caused by a constitutional monosomy of part of the short arm of chromosome 9. It is clinically characterized by dysmorphic facial features (trigonocephaly, midface hypoplasia, and long philtrum), hypotonia and mental retardation. Deletion 9p is known to be heterogeneous and exhibits variable deletion sizes. The critical region for a consensus phenotype has been reported to be located within a approximately 4-6 Mb interval on 9p22. In the present study, deletion breakpoints were determined in 13 Dutch patients by applying fluorescence in situ hybridization (FISH) and in some specific cases by array-based comparative genomic hybridization (array CGH). No clear genotype-phenotype correlation could be established for various developmental features. However, we were able to narrow down the critical region for deletion 9p syndrome to approximately 300 kb. A functional candidate gene for trigonocephaly, the CER1 gene, appeared to be located just outside this region. Sequence analysis of this gene in nine additional patients with isolated trigonocephaly did not reveal any pathogenic mutations.

  18. Biogeography and comparative cytogenetics between two populations of Hoplias malabaricus (Bloch, 1794 (Ostariophysi: Erythrinidae from coastal basins in the State of Bahia, Brazil

    Directory of Open Access Journals (Sweden)

    Uedson Pereira Jacobina

    Full Text Available The species Hoplias malabaricus is a predator fish found in nearly all cis-Andean basins. From a cytogenetic point of view, this species comprises, at least, seven differentiated karyomorphs. Several localities have been formerly analyzed in Brazil, however, some regions, such as Bahia State, remain underrepresented. Recently, the Brazilian Environment Ministry classified both Itapicuru and Contas river basins (entirely located within Bahia territory as priority conservation areas, whose biodiversity status lacks enough information. Therefore, the goal of the present work was to characterize, cytogenetically, populations of H. malabaricus from both basins, by using conventional staining, Ag-NOR and C-banding techniques. All specimens presented a diploid number of 2n = 40 with metacentric/submetacentric chromosomes, without differences between sexes, thereby representing the so-called "karyomorph F". The first metacentric pair presented a remarkably larger size in relation to the other pairs. The NORs were multiple, comprising the terminal region on long arms of two chromosomal pairs in both populations. However, the C-banding pattern was somewhat distinguishable between samples. Although sharing heterochromatic blocks at centromeric region of all chromosomes, the population from Itapicuru River basin appeared to have some more conspicuous blocks than those observed in the population from Contas River basin. The similar karyotype observed in both populations suggests a common geological history between them. The present results represent an advance in the knowledge about the cytogenetic pattern of H. malabaricus populations from poorly studied basins.

  19. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

    Directory of Open Access Journals (Sweden)

    Tahir M. Malla

    2016-01-01

    Full Text Available There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

  20. Comparative study of conventional and virtual autopsy using postmortem MRI in the phenotypic characterization of stillbirths and malformed fetuses.

    Science.gov (United States)

    Shruthi, Mohan; Gupta, Neerja; Jana, Manisha; Mridha, Asit R; Kumar, Atin; Agarwal, Ramesh; Sharma, Raju; Deka, Dipika; Gupta, Arun Kumar; Kabra, Madhulika

    2017-03-13

    To prospectively compare conventional and virtual autopsy using postmortem-MRI in the phenotypic characterization of stillbirths and malformed fetuses and their acceptability to parents. We performed whole body postmortem-MRI (1.5T) prior to conventional autopsy in 43 fetuses/still births (≥20 weeks of gestation) after excluding maternal causes of fetal death. With conventional autopsy as gold standard, postmortem-MRI findings were assessed and compared. Malformations found in postmortem-MRI were compared with conventional autopsy. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of post-mortem MRI with 95% CI, taking conventional autopsy as gold standard respectively were, whole body [77.7% (72.4%-82.4%), 99.8% (99.6%-99.9%), 97.4% (94.4%-99.0%), 97.9% (97.4%-98.4%)], nervous system [93.1% (77.2%-99.15%), 99.0% (97.5%-99.7%), 87.1% (70.2%-96.4%), 99.5% (98.2%-99.9%)], cardiovascular system [60.9% (44.5%-75.8%), 100.0% (99.2%-100.0%), 100.0% (86.3%-100.0%), 96.7% (94.8%-98.1%)], pulmonary system [91.1% (80.4%-97.0%), 100.0% (98.5%-100.0%), 100.0% (93.0%-100.0%), 98.0% (95.4%-99.3%)], abdomen [80.6% (63.9%-91.8%), 99.8% (98.9%-100.0%), 96.7% (82.8%-99.9%), 98.7% (97.3%-99.5%)], renal system [96.1% (80.4%-99.9%), 99.7% (98.1%-99.9%), 96.1% (80.4%-99.9%), 99.7% (98.1%-99.9%)], and musculoskeletal system [66.8% (56.5%-75.8%), 100.0% (99.7%-100.0%), 100.0% (94.6%-100.0%), 97.2% (96.1%-98.1%)]. In 35 (81.4%) out of 43 cases, final diagnosis based on virtual autopsy using postmortem-MRI was concordant with that of conventional autopsy. Virtual autopsy was acceptable to 93.6% of families as compared to conventional autopsy in 82.5%. Virtual autopsy using external examination of fetus, post-mortem MRI and other non-invasive/minimally invasive investigations can be an acceptable alternative to conventional autopsy when refused. Postmortem-MRI provides additional diagnostic information in brain and spinal cord malformations. Also

  1. CYTOGENETIC FINDINGS IN 11 GASTRIC CARCINOMAS

    NARCIS (Netherlands)

    SERUCA, R; CASTEDO, S; CORREIA, C; GOMES, P; CARNEIRO, F; SOARES, P; DEJONG, B; SOBRINHOSIMOES, M

    1993-01-01

    We describe the results of the cytogenetic study of 10 primary adenocarcinomas of the stomach and one lymph node metastasis of a gastric adenocarcinoma after direct harvesting or short-term in vitro culture. All cases showed a variable number of numerical and/or structural clonal cytogenetic

  2. Cytogenetic studies in Phaseolus L. (Fabaceae

    Directory of Open Access Journals (Sweden)

    Pedro Mercado-Ruaro

    2000-12-01

    Full Text Available A review of the cytogenetic studies carried out on Phaseolus as well as the different proposals that have been suggested to explain the chromosomal changes in the group are presented. The importance of including wild species in cytogenetic studies and the collaboration between taxonomists and cytogeneticists in order to draw better conclusions are emphasized.

  3. CYTOGENETIC ANALYSIS IN SLOVENIAN ACUTE LEUKEMIA PATIENTS

    Directory of Open Access Journals (Sweden)

    Helena Podgornik

    2008-04-01

    Using molecular cytogenetic and genetic methods a possibility that some of chromosomalchanges were overlooked was considerably minimized. On the basis of the analyzed datawe can be confident that the cytogenetic diagnostic approach in our acute leukemia patients is in accordance with international guidelines

  4. Characterization of Antibiotic Resistance Gene Abundance and Microbiota Composition in Feces of Organic and Conventional Pigs from Four EU Countries.

    Science.gov (United States)

    Gerzova, Lenka; Babak, Vladimir; Sedlar, Karel; Faldynova, Marcela; Videnska, Petra; Cejkova, Darina; Jensen, Annette Nygaard; Denis, Martine; Kerouanton, Annaelle; Ricci, Antonia; Cibin, Veronica; Österberg, Julia; Rychlik, Ivan

    2015-01-01

    One of the recent trends in animal production is the revival of interest in organic farming. The increased consumer interest in organic animal farming is mainly due to concerns about animal welfare and the use of antibiotics in conventional farming. On the other hand, providing animals with a more natural lifestyle implies their increased exposure to environmental sources of different microorganisms including pathogens. To address these concerns, we determined the abundance of antibiotic resistance and diversity within fecal microbiota in pigs kept under conventional and organic farming systems in Sweden, Denmark, France and Italy. The abundance of sul1, sul2, strA, tet(A), tet(B) and cat antibiotic resistance genes was determined in 468 samples by real-time PCR and the fecal microbiota diversity was characterized in 48 selected samples by pyrosequencing of V3/V4 regions of 16S rRNA. Contrary to our expectations, there were no extensive differences between the abundance of tested antibiotic resistance genes in microbiota originating from organic or conventionally housed pigs within individual countries. There were also no differences in the microbiota composition of organic and conventional pigs. The only significant difference was the difference in the abundance of antibiotic resistance genes in the samples from different countries. Fecal microbiota in the samples originating from southern European countries (Italy, France) exhibited significantly higher antibiotic resistance gene abundance than those from northern parts of Europe (Denmark, Sweden). Therefore, the geographical location of the herd influenced the antibiotic resistance in the fecal microbiota more than farm's status as organic or conventional.

  5. Characterization of Antibiotic Resistance Gene Abundance and Microbiota Composition in Feces of Organic and Conventional Pigs from Four EU Countries.

    Directory of Open Access Journals (Sweden)

    Lenka Gerzova

    Full Text Available One of the recent trends in animal production is the revival of interest in organic farming. The increased consumer interest in organic animal farming is mainly due to concerns about animal welfare and the use of antibiotics in conventional farming. On the other hand, providing animals with a more natural lifestyle implies their increased exposure to environmental sources of different microorganisms including pathogens. To address these concerns, we determined the abundance of antibiotic resistance and diversity within fecal microbiota in pigs kept under conventional and organic farming systems in Sweden, Denmark, France and Italy. The abundance of sul1, sul2, strA, tet(A, tet(B and cat antibiotic resistance genes was determined in 468 samples by real-time PCR and the fecal microbiota diversity was characterized in 48 selected samples by pyrosequencing of V3/V4 regions of 16S rRNA. Contrary to our expectations, there were no extensive differences between the abundance of tested antibiotic resistance genes in microbiota originating from organic or conventionally housed pigs within individual countries. There were also no differences in the microbiota composition of organic and conventional pigs. The only significant difference was the difference in the abundance of antibiotic resistance genes in the samples from different countries. Fecal microbiota in the samples originating from southern European countries (Italy, France exhibited significantly higher antibiotic resistance gene abundance than those from northern parts of Europe (Denmark, Sweden. Therefore, the geographical location of the herd influenced the antibiotic resistance in the fecal microbiota more than farm's status as organic or conventional.

  6. Characterization of Conventional and High-Translucency Y-TZP Dental Ceramics Submitted to Air Abrasion.

    Science.gov (United States)

    Tostes, Bhenya Ottoni; Guimarães, Renato Bastos; Noronha-Filho, Jaime Dutra; Botelho, Glauco Dos Santos; Guimarães, José Guilherme Antunes; Silva, Eduardo Moreira da

    2017-01-01

    This study evaluated the effect of air-abrasion on t®m phase transformation, roughness, topography and the elemental composition of three Y-TZP (Yttria-stabilized tetragonal zirconia polycrystal) dental ceramics: two conventional (Lava Frame and IPS ZirCad) and one with high-translucency (Lava Plus). Plates obtained from sintered blocks of each ceramic were divided into four groups: AS (as-sintered); 30 (air-abrasion with 30 mm Si-coated Al2O3 particles); 50 (air-abrasion with 50 mm Al2O3 particles) and 150 (air-abrasion with 150 mm Al2O3 particles). After the treatments, the plates were submitted to X-ray diffractometry; 3-D profilometry and SEM/EDS. The AS surfaces were composed of Zr and t phases. All treatments produced t®m phase transformation in the ceramics. The diameter of air-abrasion particles influenced the roughness (150>50>30>AS) and the topography. SEM analysis showed that the three treatments produced groove-shaped microretentions on the ceramic surfaces, which increased with the diameter of air-abrasion particles. EDS showed a decrease in Zr content along with the emergence of O and Al elements after air-abrasion. Presence of Si was also detected on the plates air-abraded with 30 mm Si-coated Al2O3 particles. It was concluded that irrespective of the type and diameter of the particles, air-abrasion produced t®m phase transformation, increased the roughness and changed the elemental composition of the three Y-TZP dental ceramics. Lava Plus also behaved similarly to the conventional Y-TZP ceramics, indicating that this high translucency ceramic could be more suitable to build monolithic ceramic restorations in the aesthetic restorative dentistry field.

  7. 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.

  8. Cytogenetic characterization of Eurysternus caribaeus (Coleoptera ...

    Indian Academy of Sciences (India)

    ... UPE-Universidade de Pernambuco, 50100-130, Recife, Brazil; Departamento de Morfologia, Instituto de Biociências, UNESP-Universidade Estadual Paulista, 18618-000, Botucatu, Brazil; Departamento de Botânica, Centro de Ciências Biológicas, UFPE-Universidade Federal de Pernambuco, 50670-420, Recife, Brazil ...

  9. Cytogenetic characterization of Nigerian indigenous pig

    African Journals Online (AJOL)

    STORAGESEVER

    2009-09-15

    Sep 15, 2009 ... chromosome pairs 1 – 7; metacentric chromosome pairs 8 to 12 and telocentric chromosome pairs 13 to 18 with submetacentric XX for female and XY for male. A detailed karyogram was constructed from the obtained results. Key words: Karyotype, Nombre fondamental, Nigerian indigenous pig.

  10. Comprehension of viscous morphology--evaluation of fractal and conventional parameters for rheological characterization of Aspergillus niger culture broth.

    Science.gov (United States)

    Wucherpfennig, Thomas; Lakowitz, Antonia; Krull, Rainer

    2013-01-20

    The filamentous fungus Aspergillus niger is a widely used host in industrial processes from food, chemical to pharmaceutical industry. The most prominent feature of this filamentous microorganism in submerged cultivation is its complex morphology which comprises dense spherical pellets as well as viscous elongated filaments. Depending on culture conditions, the exhibited morphology has tremendous effect on the overall process, making a precise understanding of fungal growth and morphology indispensable. Morphology, however, is only industrially relevant as long as it can be linked to important cultivation characteristics of filamentous microorganisms such as culture broth flow behavior. In the present study, different conventional and fractal morphological parameters gained from automatic image analysis were tested for their eligibility to predict culture broth rheology from morphologic appearance. The introduced biomass independent rheological parameters K(BDW) and n(BDW) obtained by power law relationship were successfully estimated from morphology related fractal and conventional parameters. For improved characterization of morphologic appearance of filamentous fungi newly introduced fractal quotient and lacunarity were compared to conventional particle shape parameters in form of the earlier established Morphology number (MN). Copyright © 2012 Elsevier B.V. All rights reserved.

  11. Morphostructural characterization of soil conventionally tilled with mechanized and animal traction with and without cover crop

    Directory of Open Access Journals (Sweden)

    Ricardo Ralisch

    2010-12-01

    Full Text Available The structural stability and restructuring ability of a soil are related to the methods of crop management and soil preparation. A recommended strategy to reduce the effects of soil preparation is to use crop rotation and cover crops that help conserve and restore the soil structure. The aim of this study was to evaluate and quantify the homogeneous morphological units in soil under conventional mechanized tillage and animal traction, as well as to assess the effect on the soil structure of intercropping with jack bean (Canavalia ensiformis L.. Profiles were analyzed in April of 2006, in five counties in the Southern-Central region of Paraná State (Brazil, on family farms producing maize (Zea mays L., sometimes intercropped with jack bean. The current structures in the crop profile were analyzed using Geographic Information Systems (GIS and subsequently principal component analysis (PCA to generate statistics. Morphostructural soil analysis showed a predominance of compact units in areas of high-intensity cultivation under mechanized traction. The cover crop did not improve the structure of the soil with low porosity and compact units that hamper the root system growth. In areas exposed to animal traction, a predominance of cracked units was observed, where roots grew around the clods and along the gaps between them.

  12. CHARACTERIZATION AND CORRELATION OF "JAMPOL DOTS" ON ADAPTIVE OPTICS WITH FOVEAL GRANULARITY ON CONVENTIONAL FUNDUS IMAGING.

    Science.gov (United States)

    Onishi, Alex C; Roberts, Philipp K; Jampol, Lee M; Nesper, Peter L; Fawzi, Amani A

    2017-11-22

    To describe features characteristic of multiple evanescent white dot syndrome (MEWDS) using adaptive optics scanning laser ophthalmoscopy (AOSLO). Six women (seven eyes) who presented with MEWDS between June 2014 and April 2017 underwent ophthalmologic examinations and multimodal imaging including infrared, AOSLO, and spectral domain optical coherence tomography. Bright hyperreflective lesions on AOSLO throughout the course of MEWDS could be correlated to the hyperreflective dots of foveal granularity on infrared imaging without apparent corresponding changes on spectral domain optical coherence tomography. During the acute phase of MEWDS, extrafoveal hyperreflective dots were also visible on AOSLO and infrared and were associated with accumulations of hyperreflective material above the retinal pigment epithelium on spectral domain optical coherence tomography. Foveal granularity on conventional fundus imaging could be correlated with hyperreflective lesions visible on AOSLO. We hypothesize that these hyperreflective lesions, "Jampol dots," are the foveal corollaries of the same process associated with the classic "dot" lesions in MEWDS. Based on the intact photoreceptor mosaic on AOSLO, we surmise that this material is accumulating at the level of the retinal pigment epithelium.

  13. Electrochemical characterization of screen-printed and conventional carbon paste electrodes

    Energy Technology Data Exchange (ETDEWEB)

    Fanjul-Bolado, Pablo; Hernandez-Santos, David; Lamas-Ardisana, Pedro Jose [Departamento de Quimica Fisica y Analitica, Universidad de Oviedo, 33006 Oviedo, Asturias (Spain); Martin-Pernia, Alberto [Departamento de Ingenieria Electrica, Electronica de Computadores y Sistemas, Universidad de Oviedo, 33204 Gijon, Asturias (Spain); Costa-Garcia, Agustin [Departamento de Quimica Fisica y Analitica, Universidad de Oviedo, 33006 Oviedo, Asturias (Spain)], E-mail: costa@fq.uniovi.es

    2008-04-01

    This work compares the electroactivity of a conventional carbon paste electrode and non-pretreated commercially available screen-printed carbon electrodes (from Alderon Biosciences, University of Florence and DropSens) towards some benchmark redox couples like hexaammineruthenium (III), ferricyanide, p-aminophenol and hydroquinone. While cyclic voltammograms of Ru{sup 3+} did not show significative electron transfer reactivity differences between the electrodes tested, the other redox systems exhibited higher reversible behaviours on DropSens electrodes. Scanning electron microscopy and roughness analysis with a profilometer were applied to detect the surface morphology of the working electrodes. The roughness evaluated of the screen-printed carbon working electrodes increased in this order Alderon < University of Florence < DropSens. Finally, the most electrochemically active and rough unpretreated electrode (DropSens commercial screen-printed electrode) was used to study the electrochemical-chemical reaction mechanism of indigo carmine oxidation in 0.1 M sulphuric acid. This study showed that the adsorption of the oxidation product of indigo carmine is stabilized when it is adsorbed on the surface of the electrode.

  14. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Flejter, W.L. [Univ. of Utah, Salt Lake City, UT (United States); Bennett-Baker, P.E.; Gorski, J.L. [Univ. of Michigan, Ann Arbor, MI (United States)] [and other

    1996-01-11

    A variety of distinct phenotypes has been associated with supernumerary inv dup(15) chromosomes. Although different cytogenetic rearrangements have been associated with distinguishable clinical syndromes, precise genotype-phenotype correlations have not been determined. However, the availability of chromosome 15 DNA markers provides a means to characterize inv dup(15) chromosomes in detail to facilitate the determination of specific genotype-phenotype associations. We describe 2 patients with an autistic disorder, mental retardation, developmental delay, seizures, and supernumerary inv dup(15) chromosomes. Conventional and molecular cytogenetic studies confirmed the chromosomal origin of the supernumerary chromosomes and showed that the duplicated region extended to at least band 15q13. An analysis of chromosome 15 microsatellite CA polymorphisms suggested a maternal origin of the inv dup(15) chromosomes and biparental inheritance of the two intact chromosome 15 homologs. The results of this study add to the existing literature which suggests that the clinical phenotype of patients with a supernumerary inv dup(15) chromosome is determined not only by the extent of the duplicated region, but by the dosage of genes located within band 15q13 and the origin of the normal chromosomes 15. 21 refs., 2 figs., 1 tab.

  15. Cytogenetic studies of 11 meningiomas and their clinical significance. II

    DEFF Research Database (Denmark)

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

    1990-01-01

    Cytogenetic analyses of 11 consecutive cases of meningiomas from 7 female and 4 male patients are reported. Chromosomal abnormalities were found in all cases. Only two of the cases showed cells with normal karyotype in addition to the abnormal stemline. Two of the cases displayed a more aggressive...... 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....

  16. Non-conventional approaches to food processing in CELSS, 1. Algal proteins: Characterization and process optimization

    Science.gov (United States)

    Nakhost, Z.; Karel, M.; Krukonis, V. J.

    1987-01-01

    Protein isolate obtained from green algae cultivated under controlled conditions was characterized. Molecular weight determination of fractionated algal proteins using SDS-polyacrylamide gel electrophoresis revealed a wide spectrum of molecular weights ranging from 15,000 to 220,000. Isoelectric points of dissociated proteins were in the range of 3.95 to 6.20. Amino acid composition of protein isolate compared favorably with FAO standards. High content of essential amino acids leucine, valine, phenylalanine and lysine make algal protein isolate a high quality component of closed ecological life support system diets. To optimize the removal of algal lipids and pigments supercritical carbon dioxide extraction (with and without ethanol as a co-solvent) was used. Addition of ethanol to supercritical carbon dioxide resulted in more efficient removal of algal lipids and produced protein isolate with a good yield and protein recovery. The protein isolate extracted by the above mixture had an improved water solubility.

  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. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  18. The use of cytogenetics in understanding ovarian cancer.

    Science.gov (United States)

    Bernardini, M; Weberpals, J; Squire, J A

    2004-01-01

    The future of cancer research is no longer limited to epidemiological data and clinical management, but rather encompasses a new dimension of understanding, that involves genetics of the tumors themselves. This has been exemplified most prominently in hematological tumors where alterations at the DNA level have been found to play key roles in the pathophysiology, diagnosis, monitoring and prognosis of these tumors. It has been shown over the last 20 years that recurrent chromosomal rearrangements are strongly associated with the activation of oncogenes, acquisition of drug resistance and loss of tumor suppressor gene function. Chromosomal alterations have also been shown to characterize many solid tumors, including epithelial ovarian cancer [Cancer Res. 62 (2002) 3466; Cancer 91 (2001) 534; Genes Chromosomes Cancer 25 (1999) 290]. Despite these findings, however, there are currently few examples of specific cytogenetic studies that have contributed to the clinical management of solid tumors such as ovarian cancer. The limiting factor to date is the resolution of available techniques. With time, as the technology improves, so will our ability to focus on specific findings that may be applicable to future clinical management. The intention of this report is to familiarize the reader with the evolution of cytogenetic and molecular cytogenetic techniques used in the study of ovarian cancer, the early formulations from these studies and their use in answering specific clinical questions such as association with pathologic subtype, the relevance of drug resistance, the impact of BRCA mutations, and finally to guide the reader into the future of this ever growing field.

  19. Differential Analysis of Genetic, Epigenetic, and Cytogenetic Abnormalities in AML

    Directory of Open Access Journals (Sweden)

    Mirazul Islam

    2017-01-01

    Full Text Available Acute myeloid leukemia (AML is a haematological malignancy characterized by the excessive proliferation of immature myeloid cells coupled with impaired differentiation. Many AML cases have been reported without any known cytogenetic abnormalities and carry no mutation in known AML-associated driver genes. In this study, 200 AML cases were selected from a publicly available cohort and differentially analyzed for genetic, epigenetic, and cytogenetic abnormalities. Three genes (FLT3, DNMT3A, and NPMc are found to be predominantly mutated. We identified several aberrations to be associated with genome-wide methylation changes. These include Del (5q, T (15; 17, and NPMc mutations. Four aberrations—Del (5q, T (15; 17, T (9; 22, and T (9; 11—are significantly associated with patient survival. Del (5q-positive patients have an average survival of less than 1 year, whereas T (15; 17-positive patients have a significantly better prognosis. Combining the methylation and mutation data reveals three distinct patient groups and four clusters of genes. We speculate that combined signatures have the better potential to be used for subclassification of AML, complementing cytogenetic signatures. A larger sample cohort and further investigation of the effects observed in this study are required to enable the clinical application of our patient classification aided by DNA methylation.

  20. 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

  1. 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.

  2. [Fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of cytogenetic aberrations of multiple myeloma].

    Science.gov (United States)

    Wang, Xiao-Wei; Li, Jian-Yong; Chen, Li-Juan; Qian, Si-Xuan; Hong, Ming; Qiao, Chun; Zhang, Jian-Fu; Xu, Wei; Lu, Hua

    2008-12-01

    This study was aimed to establish the technique of fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms (FICTION) used to smear of bone marrow, so as to develop a new technique for detection of the molecular cytogenetic abnormalities in multiple myeloma (MM). By using the bone marrow smear as the carrier and the anti-CD138 antibody linked with FITC, direct fluorescence staining was applied to mark plasma cells (PCs) and differences were compared in the proportion of both PCs marked by fluorescence staining and PCs detected in morphology. At the same time, the chromosome 8 centromere probe was used in interphase fluorescence in situ hybridization (I-FISH) for detection of the chromosome 8 abnormalities in PCs marked by fluorescence staining. The results showed that there was no significant difference between the proportions of both PCs marked by fluorescence staining and PCs detected in morphology on smear (p>0.05). 4 out of 9 patients (44%) had the chromosome 8 abnormalities, including 3 cases with -8 (33%) and one case with +8 (11%). It is concluded that the FICTION technique on the basis of bone marrow smear is characterized by convenience, specificity and accuracy. Therefore, it can be used for molecular cytogenetic research in MM.

  3. Combined multi-scale characterization of a sedimentary structure beneath a river embankment to expand conventional flood protection

    Science.gov (United States)

    Vienken, T.; Kreck, M.; Hausmann, J.; Werban, U.

    2011-12-01

    Embankments along rivers and streams are a common measure of constructional flood protection in Germany. At a test site along the River Mulde near the town of Löbnitz, Saxony, Germany, aerial photographs reveal the presence of a surface near underground sedimentary structure that crosses the embankment. This sedimentary structure is suspected to consist of sedimentary channel deposits that may serve as preferential flow path during seasonal flooding, leading to increased water propagation beneath the embankment. During normal water level, this structure is within the unsaturated zone. Geophysical techniques, GPR and geoelectrics, were used to characterize the extent of the sedimentary structure. At selected points high resolution vertical one-dimensional profiles of geotechnical and hydrogeological sediment properties were measured using minimum invasive direct push technology. The combination of multi-scale data allows the characterization of the identified sedimentary structure at the test site regarding its extent and hydraulic properties in respect to the fluviatile floodplain deposits present at the test site along a 500m transect. In this study, the combination of non-invasive geophysics and minimum invasive direct push technology provided high resolution geospatial information of a sedimentary regime, which could not have been achieved with conventional characterization methods, e.g. retrieval and analysis of soil samples, regarding resolution and work efficiency.

  4. Dobzhansky and Evolutionary Cytogenetics-Pioneering ...

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 5; Issue 10. Dobzhansky and Evolutionary Cytogenetics - Pioneering Evolutionary Studies with Chromosomes. Bimalendu B Nath. General Article Volume 5 Issue 10 October 2000 pp 61-65 ...

  5. 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 are r...

  6. Genetic and cytogenetic structure of wild lemon grass (Elionurus muticus populations

    Directory of Open Access Journals (Sweden)

    Thanise Nogueira Füller

    2015-12-01

    Full Text Available Elionurus muticus is a native aromatic grass from the Pampa biome that produces an essential oil that is rich in citral. Despite the importance of citral, few studies have examined this species. The aims of this work were to evaluate the genetic structure and to characterize cytogenetically natural populations collected from Brazil. Genetic characterization was performed using AFLP markers, and cytogenetics assessed the chromosome number, karyotype and meiosis. The studied populations had genetic variability, especially within populations, indicating the possibility of selecting plants with relevant characters. High variability also suggests the preferential occurrence of outcrossing in natural populations. Regular meiosis was observed in the cytogenetic analysis with chromosome number 2n=20. The karyotype of the species is presented for the first time, with the karyotype formula 3sm + 4a + 1saSAT.

  7. Characterization of a human tooth with carious lesions using conventional and synchrotron radiation-based micro computed tomography

    Science.gov (United States)

    Dziadowiec, Iwona; Beckmann, Felix; Schulz, Georg; Deyhle, Hans; Müller, Bert

    2014-09-01

    In a dental office, every day X rays of teeth within the oral cavity are obtained. Caries induces a mineral loss and, therefore, becomes visible by reduced X-ray absorption. The detailed spatial distribution of the mineral loss, however, is inaccessible in conventional dental radiology, since the dose for such studies is intolerable. As a consequence, such measurements can only be performed after tooth extraction. We have taken advantage of synchrotron radiation-based micro computed tomography to characterize a human tooth with a rather small, natural caries lesion and an artificially induced lesion provoked by acidic etching. Both halves of the tooth were separately visualized from 2400 radiographs recorded at the beam line P07 / PETRA III (HASYLAB at DESY, Hamburg, Germany) with an asymmetric rotation axis at photon energy of 45 keV. Because of the setup, one finds an energy shift in the horizontal plane, to be corrected. After the appropriate three-dimensional registration of the data with the ones of the same crown using the better accessible phoenix nanotom® m of General Electric, Wunstorf, Germany, one can determine the joint histogram, which enable to calibrate the system with the conventional X-ray source.

  8. Cytogenetics of Legumes in the Phaseoloid Clade

    Directory of Open Access Journals (Sweden)

    Aiko Iwata

    2013-11-01

    Full Text Available Cytogenetics played an essential role in studies of chromosome structure, behavior, and evolution in numerous plant species. The advent of molecular cytogenetics combined with recent development of genomic resources has ushered in a new era of chromosome studies that have greatly advanced our knowledge of karyotypic diversity, genome and chromosome organization, and chromosomal evolution in legumes. This review summarizes some of the achievements of cytogenetic studies in legumes in the Phaseoloid clade, which includes several important legume crops such as common bean ( L., cowpea [ (L. Walp.], soybean [ (L. Merr.], and pigeonpea [ (L. Huth]. In the Phaseoloid clade, karyotypes are mostly stable. There are, however, several species with extensive chromosomal changes. Fluorescence in situ hybridization has been useful to reveal chromosomal structure by physically mapping transposons, satellite repeats, ribosomal DNA genes, and bacterial artificial chromosome clones onto chromosomes. Polytene chromosomes, which are much longer than the mitotic chromosomes, have been successfully found and used in cytogenetic studies in some and species. Molecular cytogenetics will continue to be an important tool in legume genetics and genomics, and we discuss future applications of molecular cytogenetics to better understand chromosome and genome structure and evolution in legumes.

  9. [Progress of cytogenetic detection in myelodysplastic syndromes].

    Science.gov (United States)

    Zhou, Qing-Bing; Hu, Xiao-Mei; Liu, -Feng; Ma, Rou

    2011-12-01

    In recent years, significant progresses have been got in study on pathogenesis, treatment and prognosis of myelodysplastic syndromes (MDS), especially on use of new technology, that has great importance for cytogenetics of MDS. Recently, the progress of cytogenetic detection in MDS is very remarkable. Based on the metaphase cytogenetics (MC) method, prognostic significance of cytogenetics in MDS was clarified gradually. For example, people have known the prognostic significance of 12 p-, 11 q-, +21, t(11(q23)), although these genetic abnormalities are rare in the MDS. In addition, chromosome mutation emerged in the process of MDS may indicate the poor prognosis. On the other hand, with the use of SNP-A and aCGH in the study of genetics, MDS cytogenetic abnormality detection rate has been further improved and can reach to 78%. At the same time, some of MDS patients with the "normal karyotype" detected by MC have new hidden aberrations through the SNP or CGH detection, and these patients have a poorer prognosis. In this review, the advances of study on cytogenetic detection for MDS based on MC and SNP-A or aCGH methods are summarized.

  10. Cytogenetic Profile and Gene Mutations of Childhood Acute Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Nawaf Alkhayat

    2017-07-01

    Full Text Available Background: Childhood acute lymphoblastic leukemia (ALL is characterized by recurrent genetic aberrations. The identification of those abnormalities is clinically important because they are considered significant risk-stratifying markers. Aims: There are insufficient data of cytogenetic profiles in Saudi Arabian patients with childhood ALL leukemia. We have examined a cohort of 110 cases of ALL to determine the cytogenetic profiles and prevalence of FLT3 mutations and analysis of the more frequently observed abnormalities and its correlations to other biologic factors and patient outcomes and to compare our results with previously published results. Materials and methods: Patients —We reviewed all cases from 2007 to 2016 with an established diagnosis of childhood ALL. Of the 110 patients, 98 were B-lineage ALL and 12 T-cell ALL. All the patients were treated by UKALL 2003 protocol and risk stratified according previously published criteria. Cytogenetic analysis —Chromosome banding analysis and fluorescence in situ hybridization were used to detect genetic aberrations. Analysis of FLT3 mutations —Bone marrow or blood samples were screened for FLT3 mutations (internal tandem duplications, and point mutations, D835 using polymerase chain reaction methods. Result: Cytogenetic analysis showed chromosomal anomalies in 68 out of 102 cases with an overall incidence 66.7%. The most frequent chromosomal anomalies in ALL were hyperdiploidy, t(9;22, t(12;21, and MLL gene rearrangements. Our data are in accordance with those published previously and showed that FLT3 mutations are not common in patients with ALL (4.7% and have no prognostic relevance in pediatric patients with ALL. On the contrary, t(9;22, MLL gene rearrangements and hypodiploidy were signs of a bad prognosis in childhood ALL with high rate of relapse and shorter overall survival compared with the standard-risk group ( P  = .031.The event-free survival was also found to be worse ( P

  11. Undifferentiated myxoid lipoblastoma with PLAG1-HAS2 fusion in an infant; morphologically mimicking primitive myxoid mesenchymal tumor of infancy (PMMTI)--diagnostic importance of cytogenetic and molecular testing and literature review.

    Science.gov (United States)

    Warren, Mikako; Turpin, Brian K; Mark, Melissa; Smolarek, Teresa A; Li, Xia

    2016-01-01

    Lipoblastoma is a benign myxoid neoplasm arising in young children that typically demonstrates adipose differentiation. It is often morphologically indistinguishable from primitive myxoid mesenchymal tumor of infancy (PMMTI), which is characterized by a well-circumscribed myxoid mass with a proliferation of primitive mesenchymal cells with mild cytologic atypia. PMMTI occurs in the first year of life and is known to have locally aggressive behavior. No specific genetic rearrangements have been reported to date. In contrast, the presence of PLAG1 (Pleomorphic Adenoma Gene 1) rearrangement is diagnostic for lipoblastoma. We hereby demonstrate the combined application of multiple approaches to tackle the diagnostic challenges of a rapidly growing neck tumor in a 3-month-old female. An incisional tumor biopsy had features of an undifferentiated, myxoid mesenchymal neoplasm mimicking PMMTI. However, tumor cells showed diffuse nuclear expression by immunohistochemical (IHC) stain. Conventional cytogenetic and fluorescence in situ hybridization (FISH) analyses as well as next generation sequencing (NGS) demonstrated evidence of PLAG1 rearrangement, confirming the diagnosis of lipoblastoma. This experience warrants that undifferentiated myxoid lipoblastoma can mimic PMMTI, and the combination of cytogenetic and molecular approaches is essential to distinguish these two myxoid neoplasms. Literature on lipoblastomas with relevant molecular and cytogenetic findings is summarized. Our case is the first lipoblastoma diagnosed with a PLAG1 fusion defined by NGS technology. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. 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

  13. Genetics Home Reference: cytogenetically normal acute myeloid leukemia

    Science.gov (United States)

    ... normal acute myeloid leukemia Cytogenetically normal acute myeloid leukemia Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer ...

  14. Preparation and Characterization of Celecoxib Dispersions in Soluplus®: Comparison of Spray Drying and Conventional Methods

    Science.gov (United States)

    Homayouni, Alireza; Sadeghi, Fatemeh; Nokhodchi, Ali; Varshosaz, Jaleh; Afrasiabi Garekani, Hadi

    2015-01-01

    The present study deals with characterization of dispersions of a poorly water-soluble drug, celecoxib (CLX) in polyvinyl caprolactame–polyvinyl acetate–polyethylene glycol graft copolymer (Soluplus® (SOL)) prepared by different techniques. Dispersions of CLX in SOL at different ratios (2:1, 1:1, 1:2, 1:4 and 1:6) were prepared by spray drying, conventional solvent evaporation and melting methods. The solid states of samples were characterized using particle size measurements, optical and scanning electron microscopy, XRPD, DSC and FT-IR. The Gordon-Taylor equation was used to predict the Tg of samples and the possibility of interaction between CLX and SOL. The solubility and dissolution rate of all samples were determined. Stability of samples was studied at ambient conditions for a period of 12 months. DSC and XRPD analyses confirmed amorphous state of drug in samples. Surprisingly dispersions of CLX:SOL with the ratio of 2:1 and 1:1 showed slower dissolution rate than CLX while other samples showed higher dissolution rate. At 1:2 ratio the spray dried samples exhibited higher dissolution rate than corresponding samples prepared by other methods. However at higher SOL content (1:4 and 1:6), samples prepared by different methods showed similar dissolution profiles. The stability studies showed that there were no remarkable changes in the dissolution profiles and solid state of the drug after 12 months storage at ambient conditions. It was concluded that SOL was a proper carrier to enhance the dissolution rate of CLX. At high SOL ratios the method of preparation of dispersed samples had no effect on dissolution rate, whilst at low SOL content spray drying was more efficient method. PMID:25561910

  15. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

    Directory of Open Access Journals (Sweden)

    Hing Anne V

    2008-04-01

    Full Text Available Abstract Background Supernumerary marker chromosomes (SMCs are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a variety of different molecular cytogenetic techniques. Although these techniques can sometimes identify the chromosome of origin of SMCs, they are cumbersome to perform and are not available in many clinical cytogenetic laboratories. Furthermore, they cannot precisely determine the region or breakpoints of the chromosome(s involved. In this study, we describe four patients who possess one or more SMCs (a total of eight SMCs in all four patients that were characterized by microarray comparative genomic hybridization (array CGH. Results In at least one SMC from all four patients, array CGH uncovered unexpected complexity, in the form of complex rearrangements, that could have gone undetected using other molecular cytogenetic techniques. Although array CGH accurately defined the chromosome content of all but two minute SMCs, fluorescence in situ hybridization was necessary to determine the structure of the markers. Conclusion The increasing use of array CGH in clinical cytogenetic laboratories will provide an efficient method for more comprehensive characterization of SMCs. Improved SMC characterization, facilitated by array CGH, will allow for more accurate SMC/phenotype correlation.

  16. Cryptic PML-RARα positive acute promyelocytic leukemia with unusual morphology and cytogenetics

    Directory of Open Access Journals (Sweden)

    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.

  17. Immunophenotypic and cytogenetic findings of B-lymphoblastic leukemia/lymphoma associated with combined IGH/BCL2 and MYC rearrangement.

    Science.gov (United States)

    Kelemen, Katalin; Holden, Jaclyn; Johnson, Laura J; Davion, Simone; Robetorye, Ryan S

    2017-07-01

    B-lymphoblastic leukemias (B-LBL) with combined IGH/BCL2 and MYC rearrangement are rare and their clinical, cytogenetic and immunophenotypic features are not well characterized. Here, we describe a case of a 61-year-old woman with B-LBL associated with these cytogenetic alterations and present a review of the literature of this disease. Four-color flow cytometry (FC) was performed on a BD FACSCanto II flow cytometer. Data were analyzed with BD FACSDiva software. Cytogenetic, fluorescence in situ hybridization (FISH), and molecular studies were performed by conventional methods. A review of the literature was performed by a PubMed-assisted search. Including our case, eight B-LBLs associated with a documented "double-hit" karyotype (IGH/BCL2 and 8q24/MYC rearrangement) were identified in the literature (male/female 2/6, age 15-65). Three occurred de-novo, and five had a history of a CD10+ B-cell lymphoma. The typical immunophenotype was CD10, CD19, TdT positive, and negative for CD34 and surface immunoglobulin (Ig), established either by FC or immunohistochemistry. Seven cases were CD20-, and one case was CD20+. Translocation partners of MYC varied, and included IGH, lambda light chain, and an unknown gene on chromosome 9. Prognosis was poor with median survival of five months. Patients with B-LBL associated with a combined IGH/BCL2 and MYC rearrangement often have a history of a mature B-cell lymphoma. The immunophenotype of these cases is different from that of mature "double-hit" lymphomas; FC is essential to differentiate the B-LBL cases from the leukemic phase of mature B-cell lymphomas. © 2015 International Clinical Cytometry Society. © 2015 International Clinical Cytometry Society.

  18. 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

    Science.gov (United States)

    Cho, Eun-Kyung; Kim, Jinsup; Yang, Aram; Cho, Sung Yoon; Jin, Dong-Kyu

    2017-06-01

    Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously. The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a thin upper lip), developmental delay, mild mental retardation, peripheral nerve palsy, and Albright hereditary osteodystrophy (AHO)-like phenotypes (short stature and brachydactyly). Conventional chromosomal analysis results were normal; however, microarray-based comparative genomic hybridization revealed terminal deletion at 2q37.1q37.3. In addition, the patient was confirmed to have partial growth hormone (GH) deficiency and had shown a significant increase in growth rate after substitutive GH therapy. Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the presence of facial dysmorphism. When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended.

  19. Intracranial hemangiopericytoma: Case study with cytogenetics and genome wide SNP-A analysis.

    Science.gov (United States)

    Holland, Heidrun; Livrea, Michela; Ahnert, Peter; Koschny, Ronald; Kirsten, Holger; Meixensberger, Jürgen; Bauer, Manfred; Schober, Ralf; Fritzsch, Dominik; Krupp, Wolfgang

    2011-05-15

    The tumor entity of hemangiopericytoma is not universally recognized as a nosological entity by pathologists, and there is a trend toward reassigning it to other categories gradually. However, hemangiopericytomas occurring in the nervous system are included in the new WHO classification of brain tumors, and are distinguished from both meningioma and fibrous tumors. Since there are few genetic studies, we performed a comprehensive cytogenetic analysis of an infratentorial hemangiopericytoma in a 55-year-old female. It was originally classified as a grade II tumor but recurred as a grade III tumor with a proliferation index of 20%. Using trypsin-Giemsa staining (GTG-banding) and multicolor fluorescence in situ hybridization (M-FISH), we could confirm the loss of chromosomal material 10q, which has been previously described in hemangiopericytoma, and we identified de novo chromosomal aberrations on chromosome 8. Applying genome-wide high-density single nucleotide polymorphism array (SNP-A) analysis, we detected segments with loss or gain, as well as clonal deletions or regions suggestive of segmental uniparental disomy. These findings, together with the results of conventional histological and immunohistochemical characterization, provide additional evidence for the nosological separation of hemangiopericytoma in the central nervous system as a biologically different entity. Copyright © 2011 Elsevier GmbH. All rights reserved.

  20. Characterization of gas hydrate distribution using conventional 3D seismic data in the Pearl River Mouth Basin, South China Sea

    Science.gov (United States)

    Wang, Xiujuan; Qiang, Jin; Collett, Timothy S.; Shi, Hesheng; Yang, Shengxiong; Yan, Chengzhi; Li, Yuanping; Wang, Zhenzhen; Chen, Duanxin

    2016-01-01

    A new 3D seismic reflection data volume acquired in 2012 has allowed for the detailed mapping and characterization of gas hydrate distribution in the Pearl River Mouth Basin in the South China Sea. Previous studies of core and logging data showed that gas hydrate occurrence at high concentrations is controlled by the presence of relatively coarse-grained sediment and the upward migration of thermogenic gas from the deeper sediment section into the overlying gas hydrate stability zone (BGHSZ); however, the spatial distribution of the gas hydrate remains poorly defined. We used a constrained sparse spike inversion technique to generate acoustic-impedance images of the hydrate-bearing sedimentary section from the newly acquired 3D seismic data volume. High-amplitude reflections just above the bottom-simulating reflectors (BSRs) were interpreted to be associated with the accumulation of gas hydrate with elevated saturations. Enhanced seismic reflections below the BSRs were interpreted to indicate the presence of free gas. The base of the BGHSZ was established using the occurrence of BSRs. In areas absent of well-developed BSRs, the BGHSZ was calculated from a model using the inverted P-wave velocity and subsurface temperature data. Seismic attributes were also extracted along the BGHSZ that indicate variations reservoir properties and inferred hydrocarbon accumulations at each site. Gas hydrate saturations estimated from the inversion of acoustic impedance of conventional 3D seismic data, along with well-log-derived rock-physics models were also used to estimate gas hydrate saturations. Our analysis determined that the gas hydrate petroleum system varies significantly across the Pearl River Mouth Basin and that variability in sedimentary properties as a product of depositional processes and the upward migration of gas from deeper thermogenic sources control the distribution of gas hydrates in this basin.

  1. L2 Milestone 5433: Characterization of Dynamic Behavior of AM and Conventionally Processed Stainless Steel (316L and 304L)

    Energy Technology Data Exchange (ETDEWEB)

    Gray, George Thompson [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Livescu, Veronica [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Rigg, P. A. [Washington State Univ., Pullman, WA (United States). Inst. for Shock Physics; Trujillo, Carl Patrick [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Cady, Carl McElhinney [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Chen, Shuh-Rong [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Carpenter, John S. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Lienert, Thomas J. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Fensin, Saryu Jindal [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Knapp, Cameron M. [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Beal, Roberta Ann [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Morrow, Benjamin [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Dippo, Olivia F. [Univ. of California, San Diego, CA (United States); Jones, David Robert [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Martinez, Daniel Tito [Los Alamos National Lab. (LANL), Los Alamos, NM (United States); Valdez, James Anthony [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

    2016-09-26

    For additive manufacturing (AM) of metallic materials, the certification and qualification paradigm needs to evolve as there currently exists no broadly accepted “ASTM- or DIN-type” additive manufacturing certified process or AM-material produced specifications. Accordingly, design, manufacture, and thereafter implementation and insertion of AM materials to meet engineering applications requires detailed quantification of the constitutive (strength and damage) properties of these evolving materials, across the spectrum of metallic AM methods, in comparison/contrast to conventionally-manufactured metals and alloys. This report summarizes the 316L SS research results and presents initial results of the follow-on study of 304L SS. For the AM-316L SS investigation, cylindrical samples of 316L SS were produced using a LENS MR-7 laser additive manufacturing system from Optomec (Albuquerque, NM) equipped with a 1kW Yb-fiber laser. The microstructure of the AM-316L SS was characterized in both the “as-built” Additively Manufactured state and following a heat-treatment designed to obtain full recrystallization to facilitate comparison with annealed wrought 316L SS. The dynamic shock-loading-induced damage evolution and failure response of all three 316L SS materials was quantified using flyer-plate impact driven spallation experiments at peak stresses of 4.5 and 6.35 GPa. The results of these studies are reported in detail in the first section of the report. Publication of the 316L SS results in an archival journal is planned. Following on from the 316L SS completed work, initial results on a study of AM 304L SS are in progress and presented herein. Preliminary results on the structure/dynamic spallation property behavior of AM-304L SS fabricated using both the directed-energy LENS and an EOS powder-bed AM techniques in comparison to wrought 304L SS is detailed in this Level 2 Milestone report.

  2. Short-term cover crop decomposition in organic and conventional soils : Characterization of soil C, N, microbial and plant pathogen dynamics

    NARCIS (Netherlands)

    Grünwald, N.J.; Hu, S.; Bruggen, van A.H.C.

    2000-01-01

    Stages of oat–vetch cover crop decomposition were characterized over time in terms of carbon and nitrogen cycling, microbial activity and damping-off pathogen dynamics in organically and conventionally managed soils in a field and a controlled incubation experiment. A measurement of relative growth

  3. 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.

  4. Rare cytogenetic abnormalities in myelodysplastic syndromes.

    Science.gov (United States)

    Bacher, Ulrike; Schanz, Julie; Braulke, Friederike; Haase, Detlef

    2015-01-01

    The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or -Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression), of chromosome 14 or 14q (prognostically intermediate to favorable), -X (in females, with an intermediate prognosis), or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q) that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process.

  5. RARE CYTOGENETIC ABNORMALITIES IN MYELODYSPLASTIC SYNDROMES

    Directory of Open Access Journals (Sweden)

    Julie Schanz

    2015-04-01

    Full Text Available The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS and the revised IPSS-R (IPSS-R that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS. The most frequent cytogenetic abnormalities in MDS, i.e. del(5q, -7/del(7q, +8, complex karyotypes, or –Y have been extensively explored for their prognostic impact. The IPSS-R considers also some less frequent abnormalities such as del(11q, isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression, of chromosome 14 or 14q (prognostically intermediate to favorable, -X (in females, with an intermediate prognosis, or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process.

  6. CYTOGENETICS OF A CASE OF CARDIAC MYXOMA

    NARCIS (Netherlands)

    DIJKHUIZEN, T; VANDENBERG, E; MOLENAAR, WM; MEUZELAAR, JJ; DEJONG, B

    1992-01-01

    The cytogenetic study of a case of cardiac myxoma revealed a 46,XY,der(7)t(7;17) (p21;p11),+der(10)t(10;?)(q22;?),+der(12)t(12;?)(p12;?),del(17)(p11) chromosomal pattern. This case adds a new example of chromosomal abnormalities in benign neoplasms.

  7. 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.

  8. 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...

  9. 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

  10. 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.

  11. Characterization of the system MoS{sub 2} + C, HAADF vs Tem conventional; Cracterizacion del sistema MoS{sub 2} + C, HAADF vs TEM convencional

    Energy Technology Data Exchange (ETDEWEB)

    Reza, C.; Cruz, G. [ININ, 52045 Ocoyoacac, Estado de Mexico (Mexico); Santiago, P.; Rendon, L. [IFUNAM, A.P. 20-364, 04510 Mexico D.F. (Mexico)

    2004-07-01

    A study is presented about the synthesis and characterization of unidimensional nano systems composed of MoS{sub 2} and C with potential use as solid lubricant. The synthesis process was developed for the mold method, via thermal decomposition, which uses a film of nano porous aluminium oxide. Such systems were characterized by two analysis methods that involve Transmission Electron Microscopy, HRTEM (Conventional TEM) and HAADF (Z Contrast). The results obtained in the structural and morphological characterization were supplemented to determine the structure type obtained in the unidimensional systems. (Author)

  12. 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.

  13. Cytogenetic Biodosimetry Using the Blood Lymphocytes of Astronauts

    Science.gov (United States)

    George, Kerry; Rhone, J.; Chappell, L. J.; Cucinotta, F. A.

    2010-01-01

    Cytogenetic analysis of blood lymphocytes remains the most sensitive and reliable method available for in vivo assessment of the biological effects of exposure to radiation and provides the most informative measurement of radiation induced health risks. To date chromosome damage has been assessed in lymphocytes from more than 30 astronauts before and after they participated in long-duration space missions of three months or more on board the International Space Station. For all individuals, the frequency of chromosome damage measured within a month of return from space was higher than their prefight yield and biodosimetry estimates lie within the range expected from physical dosimetry. Biodosimetry data provides a direct measurement of space radiation damage, which takes into account individual radiosensitivity in the presence of confounding factors such as microgravity and other stress conditions. In contrast to physical measurements, which are external to body and require multiple devices to detect all radiation types all of which have poor sensitivity to neutrons, biodosimetry is internal and includes the effects of shielding provided by the body itself plus chromosome damage shows excellent sensitivity to protons, heavy ions, and neutrons. In addition, chromosome damage is reflective of cancer risk and biodosimetry values can therefore be used to validate and develop risk assessment models that can be used to characterize excess health risk incurred by crewmembers. A review of astronaut biodosimetry data will be presented along with recent findings on the persistence of space radiation induced chromosome damage and the cytogenetic effects of repeat long duration missions

  14. 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.

  15. Characterization of Antibiotic Resistance Gene Abundance and Microbiota Composition in Feces of Organic and Conventional Pigs from Four EU Countries

    National Research Council Canada - National Science Library

    Gerzova, Lenka; Babak, Vladimir; Sedlar, Karel; Faldynova, Marcela; Videnska, Petra; Cejkova, Darina; Jensen, Annette Nygaard; Denis, Martine; Kerouanton, Annaelle; Ricci, Antonia; Cibin, Veronica; Österberg, Julia; Rychlik, Ivan

    2015-01-01

    .... To address these concerns, we determined the abundance of antibiotic resistance and diversity within fecal microbiota in pigs kept under conventional and organic farming systems in Sweden, Denmark, France and Italy...

  16. 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.

  17. Synthesis and characterization of CaBi 4Ti 4O 15 thin films annealed by microwave and conventional furnaces

    Science.gov (United States)

    Simões, A. Z.; Riccardi, C. S.; Ramírez, M. A.; Cavalcante, L. S.; Longo, E.; Varela, J. A.

    2007-08-01

    CaBi 4Ti 4O 15 thin films were deposited by the polymeric precursor method and crystallized in a domestic microwave oven and conventional furnace. The films obtained for microwave energy are well-adhered, homogeneous and with good specularity when treated at 700 °C for 10 min. The microstructure and the structure of the films can be tuned by adjusting the crystallization conditions. When microwave oven is employed, the films presented bigger grains with mean grain size around 80 nm. For comparison, films were also prepared by the conventional furnace at 700 °C for 2 h.

  18. 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...... colorectal carcinomas, and del(10)(q22) and add(16)(p13), which so far have not been associated with primary tumors and which may play a particular pathogenetic role in the metastatic process....

  19. INVESTIGATION OF CONVENTIONAL MEMBRANE AND TANGENTIAL FLOW ULTRAFILTRATION ARTIFACTS AND THEIR APPLICATION TO THE CHARACTERIZATION OF FRESHWATER COLLOIDS

    Science.gov (United States)

    Artifacts associated with the fractionation of colloids in a freshwater sample were investigated for conventional membrane filtration (0.45 micron cutoff), and two tangential flow ultrafiltration cartridges (0.1 micron cutoff and 3000 MW cutoff). Membrane clogging during conventi...

  20. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  2. Papillary renal cell carcinoma. A morphologic and cytogenetic study of 11 cases.

    OpenAIRE

    Kovacs, G.

    1989-01-01

    Most renal cell carcinomas are characterized by constant loss of the 3p13-pter chromosome segment and a frequent gain of the 5q22-qter segment. A comparative histologic and cytogenetic investigation of large series of renal cell carcinomas now shows that purely papillary tumors differ from the more common nonpapillary form not only in their morphologic characteristic, but also in karyotype changes observed. All of the 11 papillary tumors of this study failed to show any rearrangement of the c...

  3. [Genomic profiling: from molecular cytogenetics to DNA arrays].

    Science.gov (United States)

    Theillet, C; Orsetti, B; Redon, R; Manoir, S D

    2001-03-01

    Genetic instability results, in a large majority of solid tumors, in deep chromosomal rearrangements. However, because chromosomal instability produces highly complex caryotypes, rarely showing stereotypic aberrations, it has not been possible to characterize solid cancers according to specific patterns of chromosomal rearrangements. This contrasts with the situation in hematological malignancies, where cytogenetics has allowed to lay out the basis of a renewed classification. New insights have been brought by the development of comparative genomic hybridization (CGH). This molecular cytogenetics approach was originally devised to detect regions in the genome of tumor cells undergoing quantitative changes, i.e. gains or losses of copy numbers. The large body of studies based on CGH show that solid tumors undergo frequent gains and losses and that every chromosomes show at least one region of anomaly. Furthermore, different tumor types present distinct CGH patterns of gains and losses. These observations favor the idea that it may be possible to type human solid cancers according to their patterns of genomic aberrations. However, despite the fact that a number of CGH based studies present data suggesting that different tumor types or cancers at different stages of evolution show distinct patterns of gains and losses, it has proven difficult to be conclusive. This can be mainly attributed to the lack of spatial resolution of CGH. Indeed, CGH uses metaphase chromosomes as hybridization targets and therefore its resolution is at the level of chromosomal banding. The recent adaptation of DNA array technology to CGH will allow to pass this limitation. In DNA array based CGH (array-CGH) metaphase chromosomes have been replaced by spots of cloned DNA. These DNA clones may either be genomic (BACs, YACs or cosmids) or coding (cDNAs). The resolution of array-CGH is therefore determined by the size of the cloned DNA insert (100 Kb for BACs, 1-2 kb for cDNAs). Data

  4. 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

    Directory of Open Access Journals (Sweden)

    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

  5. Characterization of culturable bacterial endophytes and their capacity to promote plant growth from plants grown using organic or conventional practices.

    Science.gov (United States)

    Xia, Ye; DeBolt, Seth; Dreyer, Jamin; Scott, Delia; Williams, Mark A

    2015-01-01

    Plants have a diverse internal microbial biota that has been shown to have an important influence on a range of plant health attributes. Although these endophytes have been found to be widely occurring, few studies have correlated agricultural production practices with endophyte community structure and function. One agricultural system that focuses on preserving and enhancing soil microbial abundance and biodiversity is organic farming, and numerous studies have shown that organically managed system have increased microbial community characteristics. Herein, the diversity and specificity of culturable bacterial endophytes were evaluated in four vegetable crops: corn, tomato, melon, and pepper grown under organic or conventional practices. Endophytic bacteria were isolated from surface-sterilized shoot, root, and seed tissues and sequence identified. A total of 336 bacterial isolates were identified, and grouped into 32 species and five phyla. Among these, 239 isolates were from organically grown plants and 97 from those grown conventionally. Although a diverse range of bacteria were documented, 186 were from the Phylum Firmicutes, representing 55% of all isolates. Using the Shannon diversity index, we observed a gradation of diversity in tissues, with shoots and roots having a similar value, and seeds having the least diversity. Importantly, endophytic microbial species abundance and diversity was significantly higher in the organically grown plants compared to those grown using conventional practices, potentially indicating that organic management practices may increase endophyte presence and diversity. The impact that these endophytes could have on plant growth and yield was evaluated by reintroducing them into tomato plants in a greenhouse environment. Of the bacterial isolates tested, 61% were found to promote tomato plant growth and 50-64% were shown to enhance biomass accumulation, illustrating their potential agroecosystem application.

  6. Characterization of culturable bacterial endophytes and their capacity to promote plant growth from plants grown using organic or conventional practices

    Directory of Open Access Journals (Sweden)

    Ye eXia

    2015-07-01

    Full Text Available Plants have a diverse internal microbial biota that has been shown to have an important influence on a range of plant health attributes. Although these endophytes have been found to be widely occurring, few studies have correlated agricultural production practices with endophyte community structure and function. One agricultural system that focuses on preserving and enhancing soil microbial abundance and biodiversity is organic farming, and numerous studies have shown that organically managed system have increased microbial community characteristics. Herein, the diversity and specificity of culturable bacterial endophytes were evaluated in four vegetable crops: corn, tomato, melon and pepper grown under organic or conventional practices. Endophytic bacteria were isolated from surface-sterilized shoot, root and seed tissues and sequence identified. A total of 336 bacterial isolates were identified, and grouped into 32 species and 5 phyla. Among these, 239 isolates were from organically grown plants and 97 from those grown conventionally. Although a diverse range of bacteria were documented, 186 were from the Phylum Firmicutes, representing 55% of all isolates. Using the Shannon diversity index, we observed a gradation of diversity in tissues, with shoots and roots having a similar value, and seeds having the least diversity. Importantly, endophytic microbial species abundance and diversity was significantly higher in the organically grown plants compared to those grown using conventional practices, potentially indicating that organic management practices may increase endophyte presence and diversity. The impact that these endophytes could have on plant growth and yield was evaluated by reintroducing them into tomato plants in a greenhouse environment. Of the bacterial isolates tested, 61% were found to promote tomato plant growth and 50%-64% were shown to enhance biomass accumulation, illustrating their potential agroecosystem application.

  7. Caracterização citogenética em Anadenanthera colubrina (Vell. Brenan (Mimosoideae e Guazuma ulmifolia Lam. (Sterculiaceae Cytogenetic characterization in Anadenanthera colubrina (Vell. Brenan (Mimosoideae and Guazuma ulmifolia Lam. (Sterculiaceae

    Directory of Open Access Journals (Sweden)

    Flavia Aparecida Ortolani

    2010-06-01

    Full Text Available Análises cariotípicas são importantes ferramentas de auxílio aos estudos de relações taxonômicas dentro dos grupos vegetais. Espécies arbóreas nativas encontradas no cerrado brasileiro têm sido pouco analisadas do ponto de vista citogenético e citotaxonômico. Com o objetivo de determinar o número cromossômico diplóide, a biometria e a morfologia cromossômica de Anadenanthera colubrina (angico-branco e Guazuma ulmifolia (mutambo, sementes dessas espécies foram coletadas no município de Três Lagoas, Mato Grosso do Sul, Brasil. A utilização de 8-hidroxiquinoleína 0,003M a 36ºC, durante três horas possibilitou a separação cromossômica. Coloração Giemsa 2% por três minutos permitiu o estudo cariológico. A classificação cromossômica foi baseada no índice centromérico. Anadenanthera colubrina possui 2n = 26 cromossomos com comprimento cromossômico médio de 1,349 µm ± 0,017 e formulação cariotípica 8SM + 14M + 2T + 2AC. Guazuma ulmifolia apresenta 2n = 16 cromossomos com comprimento médio de 1,225 µm ± 0,023 e formulação cariotípica 4SM + 10M + 2T. Esses resultados podem subsidiar estudos de taxonomia, de manipulação cromossômica, bem como auxiliar na produção de progênies híbridas em programas de melhoramento.Karyotype analyses are important aid tools for taxonomic relationship studies. Native arboreal species found in the Brazilian "cerrado" have been poorly analyzed cytogenetically and cytotaxonomically. To determine diploid chromosome number, biometry and chromosome morphology of Anadenanthera colubrina ("angico-branco" and Guazuma ulmifolia ("mutambo", seeds of these species were collected in Três Lagoas municipality, Mato Grosso do Sul, Brazil. The use of 8-hydroxiquinoleine 0.003M at 36ºC, for three hours caused chromosome separation. Giemsa coloration 2% for three minutes allowed the karyological study. Chromosome classification was based on the centromeric index. Anadenanthera colubrina

  8. Characterization of Small Focal Renal Lesions: Diagnostic Accuracy with Single-Phase Contrast-enhanced Dual-Energy CT with Material Attenuation Analysis Compared with Conventional Attenuation Measurements.

    Science.gov (United States)

    Marin, Daniele; Davis, Drew; Roy Choudhury, Kingshuk; Patel, Bhavik; Gupta, Rajan T; Mileto, Achille; Nelson, Rendon C

    2017-09-01

    Purpose To determine whether single-phase contrast material-enhanced dual-energy material attenuation analysis improves the characterization of small (1-4 cm) renal lesions compared with conventional attenuation measurements by using histopathologic analysis and follow-up imaging as the clinical reference standards. Materials and Methods In this retrospective, HIPAA-compliant, institutional review board-approved study, 136 consecutive patients (95 men and 41 women; mean age, 54 years) with 144 renal lesions (111 benign, 33 malignant) measuring 1-4 cm underwent single-energy unenhanced and contrast-enhanced dual-energy computed tomography (CT) of the abdomen. For each renal lesion, attenuation measurements were obtained; attenuation change of greater than or equal to 15 HU was considered evidence of enhancement. Dual-energy attenuation measurements were also obtained by using iodine-water, water-iodine, calcium-water, and water-calcium material basis pairs. Mean lesion attenuation values and material densities were compared between benign and malignant renal lesions by using the two-sample t test. Diagnostic accuracy of attenuation measurements and dual-energy material densities was assessed and validated by using 10-fold cross-validation to limit the effect of optimistic bias. Results By using cross-validated optimal thresholds at 100% sensitivity, iodine-water material attenuation images significantly improved specificity for differentiating between benign and malignant renal lesions compared with conventional enhancement measurements (93% [103 of 111]; 95% confidence interval: 86%, 97%; vs 81% [90 of 111]; 95% confidence interval: 73%, 88%) (P = .02). Sensitivity with iodine-water and calcium-water material attenuation images was also higher than that with conventional enhancement measurements, although the difference was not statistically significant. Conclusion Contrast-enhanced dual-energy CT with material attenuation analysis improves specificity for

  9. RARE CYTOGENETIC ABNORMALITIES IN MYELODYSPLASTIC SYNDROMES

    OpenAIRE

    Julie Schanz; Friederike Braulke; Detlef Haase

    2015-01-01

    The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or -Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 1...

  10. 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

  11. Cytogenetic abnormalities in essential thrombocythemia at presentation and transformation.

    Science.gov (United States)

    Sever, Matjaz; Kantarjian, Hagop; Pierce, Sherry; Jain, Nitin; Estrov, Zeev; Cortes, Jorge; Verstovsek, Srdan

    2009-11-01

    Cytogenetic abnormalities in patients with essential thrombocythemia (ET) are infrequent. Their role in survival of patients and disease transformation is not extensively studied. We describe cytogenetic abnormalities in 172 patients with ET at a single institution. At presentation nine (5.2%) patients had cytogenetic abnormality and three (1.7%) additional patients acquired them during follow-up. Survival of patients with cytogenetic changes at presentation did not differ when compared to the patients with normal karyotype. The more common were abnormalities of chromosome 9 (n = 4), 20 (n = 2), 5 (n = 2), and complex abnormalities (n = 2). Forty-one patients (23.8%) had additional cytogenetic tests performed for monitoring purposes during follow-up. Five patients (2.9%) with normal karyotype transformed to myelofibrosis (MF) without developing new cytogenetic changes at transformation. Two patients (1.2%) with normal karyotypes at presentation transformed to myelodysplastic syndrome and acute myeloid leukemia, respectively. Both acquired complex cytogenetic changes at the time of transformation. There is no rationale for repeating cytogenetic tests in ET patients on follow up, unless blood cell count changes suggest possible transformation.

  12. Cytogenetics And Its Relevance to the Practice of Modern Medicine ...

    African Journals Online (AJOL)

    This review outlines the importance of cytogenetics in modern medicine, the need to develop the application to the level of a full discipline in Nigeria to prevent and control these disorders and reawaken the interest of scientists and postgraduate students in this all-important discipline. Keywords: Human cytogenetics ...

  13. Physical location of SSR regions and cytogenetic instabilities in ...

    Indian Academy of Sciences (India)

    2014-08-18

    Aug 18, 2014 ... Agrária: Systemas y Recursos Florestales 1, 317–335. Muratova E. N. 1994 Cytogenetical study on Scots pine (Pinus sylvestris L.) in the Central Yakuria. In Cytogenetic studies of for- est trees and shrubs: review, present status, and outlook on the future. (ed. H. Guttenberger, Z. Borzan, S.C. Schlarbaum ...

  14. Quantitative characterization of TiO2 nanoparticle release from textiles by conventional and single particle ICP-MS

    Science.gov (United States)

    Mackevica, Aiga; Olsson, Mikael Emil; Hansen, Steffen Foss

    2018-01-01

    TiO2 is ubiquitously present in a wide range of everyday items, both as an intentionally incorporated additive and naturally occurring constituent. It can be found in a wide range of consumer products, including personal care products, food contact materials, and textiles. Normal use of these products may lead to consumer and/or environmental exposure to TiO2, possibly in form of nanoparticles. The aim of this study is to perform a leaching test and apply state-of-the-art methods to investigate nano-TiO2 and total Ti release from five types of commercially available conventional textiles: table placemats, wet wipes, microfiber cloths, and two types of baby bodysuits, with Ti contents ranging from 2.63 to 1448 μg/g. Released particle analysis was performed using conventional and single particle inductively coupled plasma mass spectrometry (ICP-MS and spICP-MS), in conjunction with transmission electron microscopy (TEM), to measure total and particulate TiO2 release by mass and particle number, as well as size distribution. Less than 1% of the initial Ti content was released over 24 h of leaching, with the highest releases reaching 3.13 μg/g. The fraction of nano-TiO2 released varied among fabric types and represented 0-80% of total TiO2 release. Particle mode sizes were 50-75 nm, and TEM imaging revealed particles in sizes of 80-200 nm. This study highlights the importance of using a multi-method approach to obtain quantitative release data that is able to provide an indication regarding particle number, size distribution, and mass concentration, all of which can help in understanding the fate and exposure of nanoparticles.

  15. Characterization of tributyrin hydrolysis by immobilized lipase on woolen cloth using conventional batch and novel spinning cloth disc reactors

    OpenAIRE

    Feng, X.; Patterson, D.A.; M. Balaban; Emanuelsson, E. A. C.

    2013-01-01

    Optimal loading and operating conditions for a new, superior immobilization of amano lipase from Pseudomonas fluorescens on woolen cloth were determined. The optimal enzyme loading was 46.8 mg g dry cloth with activity of 200 U. A batch reactor was used to characterize process conditions important to industrial application of the wool immobilized lipase. The optimal pH for immobilized lipase in tributyrin hydrolysis was 7, slightly lower than that of free lipase (pH 8). The optimal temperatur...

  16. 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.

  17. 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.

  18. Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia.

    Science.gov (United States)

    Yang, John J; Park, Tae Sung; Wan, Thomas S K

    2017-01-01

    The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.

  19. Characterization of breast lesions with CE-MR multimodal morphological and kinetic analysis: Comparison with conventional mammography and high-resolution ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Vassiou, Katherine [Department of Anatomy, Medical School, University of Thessaly, Mezourlo 41110, Larissa (Greece)], E-mail: avassiou@med.uth.gr; Kanavou, Theodorab; Vlychou, Mariann [Department of Radiology, Medical School, University of Thessaly (Greece); Poultsidi, Antigoni; Athanasiou, Evagelos [Department of Surgery, Medical School, University of Thessaly (Greece); Arvanitis, Dimitrios L. [Department of Anatomy, Medical School, University of Thessaly, Mezourlo 41110, Larissa (Greece); Fezoulidis, Ioannis V. [Department of Radiology, Medical School, University of Thessaly (Greece)

    2009-04-15

    Objective: Evaluation of the diagnostic value of magnetic resonance mammography and comparison with conventional mammography and ultrasonography in cases of women with suspicious breast lesions. Subjects and methods: Sixty-nine women (age range 39-68 years) with 78 focal breast lesions were examined with mammography, ultrasonography and dynamic magnetic resonance mammography. The lesions were classified according to the Breast Imaging Reporting and Data System (BI-RADS) lexicon of the American College of Radiology for each diagnostic method. Histological reports were available after biopsy or surgical excision of the lesions. Results: Pathological examination confirmed that 53 lesions were malignant and 25 benign. Conventional mammography estimated a total of 59/78 lesions as malignant with 44 true positive lesions, ultrasonography estimated a total of 50/78 lesions as malignant with 44 true positive lesions and magnetic resonance mammography estimated a total of 66/78 lesions as malignant with 52 true positive lesions. Sensitivity and specificity of magnetic resonance mammography in the diagnosis of malignancy was 98.1% and 44%, of conventional mammography 83% and 40% and of ultrasonography 83% and 76%. Negative predictive value for magnetic resonance mammography was 91.7%, for ultrasonography 67.9% and for mammography 52.6% for malignancies. Conclusion: Magnetic resonance mammography has the highest negative predictive value compared with mammography and ultrasound in cases of suspicious breast lesions. The combination of morphologic and enhancement criteria can improve the diagnostic capability of magnetic resonance mammography (MRM) in breast lesion characterization.

  20. Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Francesco Libotte

    2016-12-01

    Conclusion: New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p.

  1. Quantitative characterization of TiO2 nanoparticle release from textiles by conventional and single particle ICP-MS

    DEFF Research Database (Denmark)

    Mackevica, Aiga; Olsson, Mikael Emil; Hansen, Steffen Foss

    2018-01-01

    electron microscopy (TEM), to measure total and particulate TiO2 release by mass and particle number, as well as size distribution. Less than 1% of the initial Ti content was released over 24 h of leaching, with the highest releases reaching 3.13 μg/g. The fraction of nano-TiO2 released varied among fabric...... placemats, wet wipes, microfiber cloths, and two types of baby bodysuits, with Ti contents ranging from 2.63 to 1448 μg/g. Released particle analysis was performed using conventional and single particle inductively coupled plasma mass spectrometry (ICP-MS and spICP-MS), in conjunction with transmission...... types and represented 0–80% of total TiO2 release. Particle mode sizes were 50–75 nm, and TEM imaging revealed particles in sizes of 80–200 nm. This study highlights the importance of using a multi-method approach to obtain quantitative release data that is able to provide an indication regarding...

  2. Characterization of colonic polyps at conventional (nonmagnifying) colonoscopy after spraying with 0.2 % indigo carmine dye.

    Science.gov (United States)

    Sonwalkar, S; Rotimi, O; Rembacken, B J

    2006-12-01

    Japanese endoscopists have devised a classification system based on mucosal crypt patterns which is helpful for distinguishing between hyperplastic polyps, adenomas, and invasive cancers at colonoscopy. The aim of this study was to assess how well the various types of colonic polyp could be distinguished using conventional colonoscopes after spraying with 0.2 % indigo carmine dye. The endoscopic appearances of all colonic lesions were assessed in 476 unselected patients using normal-resolution, nonmagnifying colonoscopes after spraying with 0.2 % indigo carmine dye. A total of 709 lesions were found in the 476 patients, and histology was available for 673 of these lesions: 187 lesions were found to be non-neoplastic (128 hyperplastic, 2 juvenile, 30 inflammatory, and 27 classified as "others"); 467 lesions were adenomatous; and 19 lesions were carcinomas. Of the 467 adenomas, 377 were tubular, 77 were tubulovillous, 8 were villous and 5 were serrated; 423/467 were correctly identified (sensitivity 91 %). Of the 187 non-neoplastic lesions, 153 were correctly classified (specificity 82 %). A total of 343 of the 377 tubular lesions were correctly identified as tubular adenomas (sensitivity 90 %), and 46 of the 77 tubulovillous lesions were correctly identified. Standard colonoscopy with dye spraying can be used to differentiate colonic polyps. Magnification is not always necessary to distinguish neoplastic from nonneoplastic colonic lesions. This finding could result in resource savings in colonoscopic screening.

  3. Development, characterization and in vivo localization study of topical 5-fluorouracil gels: a comparative study with conventional formulation.

    Science.gov (United States)

    Jain, Subheet Kumar; Puri, Richa

    2014-01-01

    5-Fluorouracil (5-FU) is one of the most effective antineoplastic agents used for the treatment of skin cancers and actinic keratosis (AK). Currently commercial formulation for topical 5-FU administration is available in the form of solution or cream. Commercial topical formulations are associated with the limitation of very short retention time at the administration site resulting in very poor skin permeation and deposition of drug. In the present study attempt was made for the preparation, optimization and characterization of bioadhesive gel formulations for localized delivery of 5-FU. Four bioadhesive gel formers, Carbopol 934, Carbopol 980, Methylcellulose (MC) and Poloxamer 188 were selected for the preparation of 5-FU bioadhesive gel formulations. The formulations were characterized for characteristic parameters including bioadhesive strength, skin deposition and interaction study. Carbopol 934 based bioadhesive gel formulation at the concentration of 1.5% w/w showed the best physicochemical properties such as viscosity (2670±12.2 cP), which was similar to the value obtained with the marketed cream (2870±14.4 cP), highest skin deposition (1290±56.4μg) and bioadhesive strength (18.62 gf). Cutaneous irritation of optimized bioadhesive gel formulations was also tested using the Draize test and only very slight erythema and no oedema was observed. In comparison, marketed formulation showed well defined erythema along with oedema formation. The result of the present study demonstrated that formulation of Carbopol 934 based 5-FU bioadhesive gel is a better alternative to the traditional cream base for enhanced topical delivery of 5-FU. The developed formulation will have the ease of application, better skin deposition and sustained release characteristic with reduced skin toxicity.

  4. The new cytogenetics: blurring the boundaries with molecular biology.

    Science.gov (United States)

    Speicher, Michael R; Carter, Nigel P

    2005-10-01

    Exciting advances in fluorescence in situ hybridization and array-based techniques are changing the nature of cytogenetics, in both basic research and molecular diagnostics. Cytogenetic analysis now extends beyond the simple description of the chromosomal status of a genome and allows the study of fundamental biological questions, such as the nature of inherited syndromes, the genomic changes that are involved in tumorigenesis and the three-dimensional organization of the human genome. The high resolution that is achieved by these techniques, particularly by microarray technologies such as array comparative genomic hybridization, is blurring the traditional distinction between cytogenetics and molecular biology.

  5. 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.

  6. 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.

  7. B chromosomes: from cytogenetics to systems biology.

    Science.gov (United States)

    Valente, Guilherme T; Nakajima, Rafael T; Fantinatti, Bruno E A; Marques, Diego F; Almeida, Rodrigo O; Simões, Rafael P; Martins, Cesar

    2017-02-01

    Though hundreds to thousands of reports have described the distribution of B chromosomes among diverse eukaryote groups, a comprehensive theory of their biological role has not yet clearly emerged. B chromosomes are classically understood as a sea of repetitive DNA sequences that are poor in genes and are maintained by a parasitic-drive mechanism during cell division. Recent developments in high-throughput DNA/RNA analyses have increased the resolution of B chromosome biology beyond those of classical and molecular cytogenetic methods; B chromosomes contain many transcriptionally active sequences, including genes, and can modulate the activity of autosomal genes. Furthermore, the most recent knowledge obtained from omics analyses, which is associated with a systemic view, has demonstrated that B chromosomes can influence cell biology in a complex way, possibly favoring their own maintenance and perpetuation.

  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. Influence of detection of pretreatment cytogenetic abnormalities on first complete remission and survival in adult acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Milena Georgieva Velizarova

    2011-09-01

    Full Text Available Objective: Treatment of acute lymphoblastic leukemia (ALL in adults focuses on the initial assessment of the prognostic relevant cytogenetic features as well as a response-guided therapy based on molecular data. We examined the importance of molecular-cytogenetic abnormalities for complete remission (CR rates and the overall survival (OS in adult ALLs.Materials and Methods: Conventional cytogenetics and fluorescence in situ hybridization were performed on bone marrow cells from 33 newly-diagnosed ALL adults. Two karyotype categories [standard- risk group- normal karyotype, hyperdiplody and other structural aberrations, and high-risk group-t(11q23/MLL, t(9;22/bcr-abl, t(1;19, t(8;14, C-MYC and complex karyotype] and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined.Results: Chromosomal abnormalities were found in 52% of the cases with a high rate of poor-risk translocations - t(9;22, t(8q24, t(11q23, t(1;19. The total CR rate was 67% and the median time for achievement 2.33 months. Male sex, an age below 35 years and the absence of high risk translocations might have contributed to the high CR rates. Female patients, hyperdiplody, low white blood cells (WBC, and random cytogenetic aberrations had the longest OS. OS, 3- and 5-years survival periods were significantly shorter for poor-risk than standard risk group (p=.015, p=.001 and p=.005, respectively.Conclusion: This study emphasizes the lack of influence of cytogenetic aberrations on the CR and the time to achieve CR. However, our observations show that these aberrations are an independent prognostic factor in adult ALL - they allow predicting therapy resistance and the OS time after intensetreatment.

  10. 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

  11. Cytogenetic analysis in the spermatogenesis of Triatoma melanosoma (Reduviidae; Heteroptera)

    National Research Council Canada - National Science Library

    Bardella, V B; Azeredo-Oliveira, M T V; Tartarotti, E

    2008-01-01

    .... This study presents an analysis of the species Triatoma melanosoma. The cytogenetic characteristics of triatomines include holocentric chromosomes, post-reductional meiosis in the sex chromosomes and nucleolar fragmentation in the meiotic cycle...

  12. Cytogenetics of paediatric and adolescent acute lymphoblastic leukaemia.

    Science.gov (United States)

    Harrison, Christine J

    2009-01-01

    Cytogenetics has determined the incidence and prognostic significance of chromosomal abnormalities in acute lymphoblastic leukaemia (ALL). The development of fluorescence in situ hybridization (FISH) and array technologies has led to the discovery of novel aberrations. Five 'hot topics' are presented in which cytogenetics and related techniques have been instrumental in understanding the role of genetics in leukaemogenesis: (i) genetic changes are integral to the biology of T-cell ALL; (ii) intrachromosomal amplification of chromosome 21 is a new recurrent abnormality in precursor-B ALL (BCP-ALL); (iii) the immunoglobulin heavy chain gene (IGH@) is significant in BCP-ALL; (iv) alterations in genes involved in B-cell development and cell cycle control contribute to the pathogenesis of BCP-ALL; (v) age-related cytogenetic profiles define ALL in children and adolescents as distinct biological entities. In this molecular era, cytogenetics continues to be integral to our understanding of the genetics of this disease.

  13. Cytogenetic, genomic in situ hybridization (GISH) and agronomic ...

    African Journals Online (AJOL)

    F3 generations of a wheat-Psathyrostachys huashanica intergeneric cross. Their agronomic traits were evaluated in the field and their meiotic behaviors and chromosome composition were analyzed by cytogenetic and GISH (genomic in situ ...

  14. Conventional and phenomics characterization provides insight into the diversity and relationships of hypervariable scarlet (Solanum aethiopicum L. and gboma (S. macrocarpon L. eggplant complexes

    Directory of Open Access Journals (Sweden)

    Mariola ePlazas

    2014-07-01

    Full Text Available Scarlet (Solanum aethiopicum and gboma (S. macrocarpon eggplants are major vegetable crops in sub-Saharan Africa. Together with their respective wild ancestors (S. anguivi and S. dasyphyllum and intermediate cultivated-wild forms they constitute the so-called scarlet and gboma eggplant complexes. We used conventional descriptors and the high-throughput phenomics tool Tomato Analyzer for characterizing 63 accessions of the scarlet eggplant complex, including the four S. aethiopicum cultivar groups (Aculeatum, Gilo, Kumba, and Shum, Intermediate S. aethiopicum-S. anguivi forms, and S. anguivi, and 12 cultivated and wild accessions of the gboma eggplant complex. A large diversity was found between both complexes, showing that they are very well differentiated from each other. Within the scarlet eggplant complex, many significant differences were also found among cultivar groups, but more differences were found for fruit traits evaluated with Tomato Analyzer than with conventional descriptors. In particular, Tomato Analyzer phenomics characterization was useful for distinguishing small fruited groups (Shum, Intermediate, and S. anguivi, as well as groups for which few or no significant differences were observed for plant traits. Multivariate principal components analysis (PCA separated well all groups, except the Intermediate group which plotted between S. anguivi and small fruited S. aethiopicum accessions. For the gboma eggplant complex, S. dasyphyllum was clearly distinguished from S. macrocarpon and an important diversity was found in the latter. The results have shown that both complexes are hypervariable and have provided insight into their diversity and relationships. The information obtained has important implications for the conservation and management of genetic resources as well as for the selection and breeding of both scarlet and gboma eggplants.

  15. Cytogenetic effect of 5-azacytidine in patients with hematological malignancies

    OpenAIRE

    Jessica Romy Tsuda; Rosimeire Segato; Waldênia Barbosa; Marília de Arruda Cardoso Smith; Spencer Luiz Marques Payão

    2011-01-01

    BACKGROUND: Recently, the importance of cytogenetics has grown in the diagnosis, prognosis and treatment of leukemias and myelodysplastic syndromes. 5-azacytidine is a drug that has well-known cytogenetical effects and is approved in the treatment of myelodysplastic syndromes. To date, no studies have been performed to evaluate the impact of 5-azacytidine on the chromosomes of patients with hematological neoplasias. This study aimed to investigate the effects of 5-azacytidine on chromosomes o...

  16. MOLECULAR CYTOGENETICS OF LYMPHOMA. WHERE DO WE STAND IN 2010?

    OpenAIRE

    Kluin, Philip M.; Schuuring, Ed

    2011-01-01

    Abstract Since approximately 20 years most malignant lymphomas are classified by the recognition of clinico-pathologic entities, each with its own combination of clinical, morphologic, immunophenotypic and molecular genetic characteristics. Obviously, in many instances molecular cytogenetics is of great help for classification and in some lymphomas it is even a prerequisite. Molecular cytogenetic alterations can be detected by a large variety of techniques, ranging from conventiona...

  17. 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. © The American Genetic Association. 2012. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  18. 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.

    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. PMID:23109720

  19. 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.

  20. 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

  1. The cytogenetic architecture of the aphid genome.

    Science.gov (United States)

    Manicardi, Gian Carlo; Mandrioli, Mauro; Blackman, Roger L

    2015-02-01

    In recent years aphids, with their well-defined polyphenism, have become favoured as model organisms for the study of epigenetic processes. The availability of the pea aphid (Acyrthosiphon pisum) genome sequence has engendered much research aimed at elucidating the mechanisms by which the phenotypic plasticity of aphids is inherited and controlled. Yet so far this research effort has paid little attention to the cytogenetic processes that play a vital part in the organisation, expression and inheritance of the aphid genome. Aphids have holocentric chromosomes, which have very different properties from the chromosomes with localised centromeres that are found in most other organisms. Here we review the diverse forms of aphid chromosome behaviour that occur during sex determination and male and female meiosis, often in response to environmental changes and mediated by endocrine factors. Remarkable differences occur, even between related species, that could have significant effects on the inheritance of all or parts of the genome. In relation to this, we review the particular features of the distribution of heterochromatin, rDNA genes and other repetitive DNA in aphid chromosomes, and discuss the part that these may play in the epigenetic modification of chromatin structure and function. © 2014 The Authors. Biological Reviews © 2014 Cambridge Philosophical Society.

  2. 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.

  3. 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.

  4. Recurrent Cytogenetic Abnormalities in Non-Hodgkin's Lymphoma and Chronic Lymphocytic Leukemia.

    Science.gov (United States)

    Ma, Edmond S K

    2017-01-01

    Characteristic chromosomal translocations are found to be associated with subtypes of B-cell non-Hodgkin lymphoma (NHL), for example t(8;14)(q24;q32) and Burkitt lymphoma, t(14;18)(q32;q21) and follicular lymphoma, and t(11;14)(q13;q32) in mantle cell lymphoma. Only few recurrent cytogenetic aberrations have been identified in the T-cell NHL and the best known is the ALK gene translocation t(2;5)(p23;q35) in anaplastic large cell lymphoma. Since lymph node or other tissue is seldom submitted for conventional cytogenetics study, alternative approaches for translocation detection are polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH). FISH is more sensitive than PCR in the detection of lymphoma translocations since directly labeled large FISH probes that span the translocation breakpoints are used. Although the recurrent chromosomal abnormalities in NHL are not completely sensitive and specific for disease entities, unlike the scenario in acute leukemia, cytogenetic and molecular genetic study is commonly used to aid lymphoma diagnosis and classification. Currently, the main clinical utility is in the employment of interphase FISH panels to predict disease aggressiveness to guide therapy, for example identification of double-hit lymphoma, or in prognostication, for example risk-stratification in chronic lymphocytic leukemia. The recent application of high-throughput sequencing to NHL not only advances the understanding of disease pathogenesis and classification, but allows the discovery of new drug targets, such as BRAF gene inhibition in hairy cell leukemia. Coupled with the increasing availability of novel molecular targeted therapeutic agents, the hope for the future is to translate the genetics and genomics information to achieve personalized medicine in NHL.

  5. 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.

  6. Cytogenetic Diversity of Simple Sequences Repeats in Morphotypes of Brassica rapa ssp. chinensis

    Science.gov (United States)

    Zheng, Jin-shuang; Sun, Cheng-zhen; Zhang, Shu-ning; Hou, Xi-lin; Bonnema, Guusje

    2016-01-01

    A significant fraction of the nuclear DNA of all eukaryotes is comprised of simple sequence repeats (SSRs). Although these sequences are widely used for studying genetic variation, linkage mapping and evolution, little attention had been paid to the chromosomal distribution and cytogenetic diversity of these sequences. In this paper, we report the distribution characterization of mono-, di-, and tri-nucleotide SSRs in Brassica rapa ssp. chinensis. Fluorescence in situ hybridization was used to characterize the cytogenetic diversity of SSRs among morphotypes of B. rapa ssp. chinensis. The proportion of different SSR motifs varied among morphotypes of B. rapa ssp. chinensis, with tri-nucleotide SSRs being more prevalent in the genome of B. rapa ssp. chinensis. We determined the chromosomal locations of mono-, di-, and tri-nucleotide repeat loci. The results showed that the chromosomal distribution of SSRs in the different morphotypes is non-random and motif-dependent, and allowed us to characterize the relative variability in terms of SSR numbers and similar chromosomal distributions in centromeric/peri-centromeric heterochromatin. The differences between SSR repeats with respect to abundance and distribution indicate that SSRs are a driving force in the genomic evolution of B. rapa species. Our results provide a comprehensive view of the SSR sequence distribution and evolution for comparison among morphotypes B. rapa ssp. chinensis. PMID:27507974

  7. Molecular cytogenetic characterization of a new wheat Secale ...

    Indian Academy of Sciences (India)

    ) substitution line for resistance to stripe rust. Mengping Lei ... Zujun Yang1. School of Life Science and Technology, University of Electronic Science and Technology of China, 4 Jianshe Road, Chengdu 610054, People's Republic of China ...

  8. Significance of cytogenetic abnormalities in patients with polycythemia vera.

    Science.gov (United States)

    Sever, Matjaz; Quintás-Cardama, Alfonso; Pierce, Sherry; Zhou, Lingsha; Kantarjian, Hagop; Verstovsek, Srdan

    2013-12-01

    We analyzed 133 patients with polycythemia vera (PV) who were followed at our institution (median 7.5 years) and had adequate cytogenetics information. The 5-, 10- and 15-year survival rates were 93%, 79% and 64%, respectively, with a median projected overall survival of 24 years. Nineteen patients (14%) had abnormal cytogenetics at any time during the disease course (no survival difference). Sixteen patients (12%) underwent disease transformation during follow-up, after a median of 8.5 years, to myelofibrosis (n = 11), acute myeloid leukemia (n = 4) or myelodysplastic syndrome (n = 1); eight had cytogenetic abnormalities. Among 133 patients, 39 were newly diagnosed: 33 with normal and six with abnormal cytogenetics (no survival difference); nine underwent disease transformation (six with normal and three with abnormal cytogenetics at diagnosis). In keeping with other smaller series, the presence of chromosomal abnormalities may have had a role in disease transformation in patients with PV; survival was not affected likely due to short follow-up.

  9. Characterization and comparison of bacterial communities selected in conventional activated sludge and membrane bioreactor pilot plants: a focus on Nitrospira and Planctomycetes bacterial phyla.

    Science.gov (United States)

    Chiellini, Carolina; Munz, Giulio; Petroni, Giulio; Lubello, Claudio; Mori, Gualtiero; Verni, Franco; Vannini, Claudia

    2013-07-01

    A pilot-scale membrane bioreactor (MBR) and a conventional activated sludge system (CAS) were in parallel operated to investigate the impact of the separation technology on the structure and functionality of the selected microbial community. Microbial communities as well as nitrogen removal efficiency of the biomass were characterized. Kinetics and microbial community structure turned out to be duly correlated. The impact of the separation technology on selective conditions and, in particular, the higher variability of solid separation efficiency in CAS with respect to MBR pilot plant possibly represented the main factor influencing the selection of bacterial communities. Concerning nitrifiers, bacteria of the genus Nitrospira were predominant in the MBR. This was in accordance with kinetics of nitrite-oxidizing bacteria that suggested the presence of k-strategists, while r-strategists were selected in the CAS plant, possibly because of the presence of transient higher concentrations of nitrite (in the range of 0.05-0.18 and of 0.05-4.4 mg [Formula: see text]-N L(-1) in the MBR and CAS effluents, respectively). An unexpectedly high presence of bacteria belonging to two specific phylogenetic clades of Planctomycetes was found in both reactors.

  10. Technical Review: Cytogenetic Tools for Studying Mitotic Chromosomes.

    Science.gov (United States)

    Bačovský, Václaclav; Hobza, Roman; Vyskot, Boris

    2018-01-01

    Significant advances in chromosome preparation and other techniques have greatly increased the potential of plant cytogenetics in recent years. Increase in longitudinal resolution using DNA extended fibers as well as new developments in imaging and signal amplification technologies have enhanced the ability of FISH to detect small gene targets. The combination of fluorescence in situ hybridization with immunocytochemistry allows the investigation of cell events, chromosomal rearrangements and chromatin features typical for plant nuclei. Chromosome manipulation techniques using microdissection and flow sorting have accelerated the analysis of complex plant genomes. Together, the different cytogenetic approaches are invaluable for the unravelling of detailed structures of plant chromosomes, which are of utmost importance for the study of genome properties, DNA replication and gene regulation. In this technical review, different cytogenetic approaches are discussed for the analysis of plant chromosomes, with a focus on mitotic chromosomes.

  11. [Cytogenetics and genome-wide copy number variation analysis of a suspect patient with Prader-Willi syndrome].

    Science.gov (United States)

    Cao, Qin-ying; Zhao, Li-juan; Ge, Jun; Zhu, Jun-zhen

    2011-08-01

    To definite the etiopathogenisis by carrying out the genome-wide copy number variation analysis for a suspect patient with Prader-Willi syndrome. The peripheral blood was collected from the patient who was diagnosed as having Prader-Willi syndrome, as well as his parents for conventional cytogenetic G-banding and high resolution chromosome assay. Genomic DNA of the child patient was extracted from the blood to perform the genome-wide copy number variation analysis. There was a heterozygosis deletion of a 5Mb region in chromosome 15q11.2-q13.1 by the genome-wide copy number variation analysis, but no abnormality was observed in high resolution chromosome assay in the child patient and his parents. Baylay and Gesell developmental scale was assessed regularly; the results suggested that the IQ of the child patient was 60-70, according with the clinical feature of Prader-Willi syndrome. The heterozygosis deletion in chromosome 15q11.2-q13.1 is the cause of Prader-Willi syndrome in this family. Further molecular genetics detection can make up for the insufficiency in cytogenetics methods, when no abnormality is observed at the level of cytogenetics in patients with Prader-Willi syndrome.

  12. 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.

    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

  13. Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

    OpenAIRE

    Kuznetzova, T; Baranov, A; Schwed, N; Ivaschenko, T; Malet, P; Giollant, M; Savitsky, G A; Baranov, V

    1995-01-01

    Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter grou...

  14. Classical and molecular cytogenetics of Khawia sinensis (Cestoda: Caryophyllidea), invasive parasite of carp, Cyprinus carpio.

    Science.gov (United States)

    Orosová, Martina; Oros, Mikuláš

    2012-05-01

    Chromosomes of the invasive tapeworm Khawia sinensis (Caryophyllidea), the specific parasite of common carp, were analyzed by means of conventional Giemsa staining and using fluorescent DAPI and YOYO-1 dyes, silver staining, and fluorescent in situ hybridization (FISH) with 18S rDNA probe. The karyotype is composed of eight pairs of metacentric and telocentric chromosomes (2n = 16, n = 3m + 5t, TCL = 42.54 μm). Constitutive heterochromatin was located at pericentromeric regions of all pairs, except for the largest metacentric pair (no. 1), which possessed no DAPI-positive band. FISH with rDNA probe revealed that both homologues of chromosome pair no. 6 carry a cluster of ribosomal arrays, which were located interstitially close to the centromere. Present results are compared with previous cytogenetic data on Khawia spp., and comments are made on the karyotypes with respect to their phylogenetic links.

  15. 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)

  16. Frequency and pattern of cytogenetic alterations in primary ...

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-08-10

    Aug 10, 2015 ... Representative karyotype (46,XO) of a primary amenorrhea female with Turner's syndrome. Figure 2. Representative karyotype (46,XX,i(Xq)) of a primary amenorrhea female with isochromosome Xq. Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India. 27 ...

  17. 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...

  18. Cytogenetics of testicular germ cell tumors of adults

    NARCIS (Netherlands)

    van Echten, J; de Jong, B

    1998-01-01

    In this article, not intended to be a review of the literature, we present our view about the oncogenesis, pathogenesis and tumor progression of testicular germ cell tumors of adults. This view is based on our cytogenetic analyses df primary testicular germ cell tumors (seminomas and non-seminomas),

  19. Notes on the cytogenetics of some South African Xiphinema species ...

    African Journals Online (AJOL)

    The cytogenetics of several South African species of Xiphinemawere studied and compared with the existing data for this genus from Europe. The process of oogenesis appears to be very similar in all species studied, with little interspecific and intraspecific differences. The ovaries of the South African specimens are larger, ...

  20. Neurospora as a model fungus for studies in cytogenetics and ...

    Indian Academy of Sciences (India)

    Dodge's early work (1927–1940) on Neurospora genetics and sexual biology inspired Beadle and Tatum at Stanford to use N. crassa for their landmark discovery that genes specify enzymes. Neurospora has since become a model organism for numerous genetic, cytogenetic, biochemical, molecular and population biology ...

  1. Molecular cytogenetic identification of a wheat–Thinopyrum ...

    Indian Academy of Sciences (India)

    Thinopyrum ponticum (2n = 70) serves as a valuable gene pool for wheat improvement. Line SN0224, derived from crosses between Th. ponticum and the common wheat cultivar Yannong15, was identified in the present study. Cytogenetic observations showed that SN0224 contains 42 chromosomes in the root-tip cells ...

  2. Inducible protective processes in animal systems XIV: Cytogenetic ...

    African Journals Online (AJOL)

    Inducible protective processes in animal systems XIV: Cytogenetic adaptive response induced by EMS or MMS in bone marrow cells of diabetic mouse. ... Parallelly controls were maintained. ... Conclusion: (1) Methylating agents are a more effective inducer of adaptive response than ethylating agents in diabetic mouse.

  3. Toxicity Evaluation and Cytogenetic Screening of Process Water 2

    African Journals Online (AJOL)

    Dr. K.J. Umar

    ABSTRACT: The effect of toxic substances on aquatic lives from a wastewater indiscriminately discharged into the environment during oil ... treatment of process water before its discharge into water bodies to avoid cyto-genetic damages to aquatic lives. Keywords: ..... of the pesticides phosdrin and bladex in. Tradescantia ...

  4. A molecular cytogenetic analysis of introgression in Alstroemeria

    NARCIS (Netherlands)

    Kamstra, S.A.

    1999-01-01

    This thesis describes the results of a molecular cytogenetic investigation of the process of introgression in Alstroemeria . The aim of this study was to transfer chromosomes or genes from one Alstroemeria species into another. For this, two

  5. 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.

  6. Physical location of SSR regions and cytogenetic instabilities in ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 93; Issue 2. Physical location of SSR regions and cytogenetic instabilities in Pinus sylvestris chromosomes revealed by ND-FISH. Ivo Pavia Ana Carvalho Luís Rocha Maria João Gaspar José Lima-Brito. Research Note Volume 93 Issue 2 August 2014 pp 567-571 ...

  7. Complex cytogenetic findings in the bone marrow of a chronic idiopathic myelofibrosis patient

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    Tuğçe Bulakbaşı Balcı

    2010-06-01

    Full Text Available Chronic idiopathic myelofibrosis is a myeloproliferative disorder characterized by splenomegaly, myeloid metaplasia and reactive bone marrow fibrosis. Karyotype analysis of the bone marrow is an integral part of the diagnosis, especially as a discriminative tool in ruling out reactive conditions. The frequency of clonal cytogenetic anomalies in this disease is the highest among its group, varying between 30 and 75%. Among these, trisomy 1q, 20q-, 13q- and +8 are the most common aberrations. Here we report a 66-year-old male patient whose bone marrow biopsy revealed signs of chronic myeloproliferative changes and dysmegakaryopoiesis. He was administered hydroxyurea treatment, splenic radiotherapy and multiple transfusions. The patient worsened in the following months and the second bone marrow biopsy revealed myelofibrosis. Cytogenetic analysis of this bone marrow sample revealed a complex karyotype reported to be 46,XY,del(9(q22q34,t(8;17;21(q22;q21;q22[23]/46,XY[2], with a previously undefined three-way translocation and deletion in chromosome 9. The patient died shortly thereafter.

  8. 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

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

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    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.

  10. 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.

  11. 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.

  12. 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.

  13. Molecular characterization of tlyA gene product, Rv1694 of Mycobacterium tuberculosis: A non-conventional hemolysin and a ribosomal RNA methyl transferase

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    Ahmed Neesar

    2010-09-01

    Full Text Available Abstract Background Mycobacterium tuberculosis is a virulent bacillus causing tuberculosis, a disease responsible for million deaths each year worldwide. In order to understand its mechanism of pathogenesis in humans and to help control tuberculosis, functions of numerous Mycobacterium tuberculosis genes are being characterized. In this study we report the dual functionality of tlyA gene product of Mycobacterium tuberculosis annotated as Rv1694, a 268 amino acid long basic protein. Results The recombinant purified Rv1694 protein was found to exhibit hemolytic activity in vitro. It showed concentration and time-dependent hemolysis of rabbit and human erythrocytes. Multiple oligomeric forms (dimers to heptamers of this protein were seen on the membranes of the lysed erythrocytes. Like the oligomers of conventional, well-known, pore-forming toxins, the oligomers of Rv1694 were found to be resistant to heat and SDS, but were susceptible to reducing agents like β-mercaptoethanol as it had abolished the hemolytic activity of Rv1694 indicating the role of disulfide bond(s. The Rv1694 generated de novo by in vitro transcription and translation also exhibited unambiguous hemolysis confirming the self assembly and oligomerization properties of this protein. Limited proteolytic digestion of this protein has revealed that the amino terminus is susceptible while in solution but is protected in presence of membrane. Striking feature of Rv1694 is its presence on the cell wall of E. coli as visualized by confocal microscopy. The surface expression is consistent with the contact dependent haemolytic ability of E. coli expressing this protein. Also, immune serum specific to this protein inhibits the contact dependent hemolysis. Moreover, Rv1694 protein binds to and forms stable oligomers on the macrophage phagosomal membranes. In addition to all these properties, E. coli expressing Rv1694 was found to be susceptible to the antibiotic capreomycin as its growth

  14. Characterization of diatom-derived lipids and chlorophyll within Holocene laminites, Saanich Inlet, British Columbia, using conventional and laser scanning fluorescence microscopy

    Energy Technology Data Exchange (ETDEWEB)

    Stasiuk, L.D. [Natural Resources Canada, Geological Survey of Canada, Calgary, AB (Canada); Sanei, H. [University of Victoria, BC (Canada). School of Earth and Ocean Sciences

    2001-07-01

    Conventional fluorescence microscopy and visible light region fluorescence microspectrometry have been combined with laser scanning fluorescence microscopy (LSFM) to examine and characterize soluble sedimentary organic matter (SOM) in Holocene diatomaceous laminites from ODP core 1034, Saanich Inlet, British Columbia, Canada. Microscopic SOM in the laminites is dominated by two components: red-fluorescing chlorophyllinite, and yellow-fluorescing, diatom-derived oils. Both are commonly preserved within the interior of siliceous diatom auxospores and appear as an abundant and intense stain on mineral matter throughout the laminites. The mineral stain is classified as matrix chlorophyllinite and matrix oil, respectively. Accessory insoluble SOM consists of dinoflagellate, prasinophyte and coccoidal alginites, and rare woody huminite, funginite, and sporinite. Visible light region fluorescence microspectrometry of chlorophyllinite reveals a predominance at {lambda} max 670-675 nm, which is consistent with a chlorophyll a source based on comparison with reference samples of chlorophyll a and b. The consistency in {lambda}max and spectral character of chlorophyllinite with increasing depth in Saanich Inlet correlates with a high degree of chlorophyll preservation. Its distribution in the laminites is readily imaged by LSFM using either UV (363 nm) or blue (488 nm) laser excitation and >665 nm emission. Yellow-fluorescing diatom oils have {lambda}max ranging from 485 to 520 nm, suggesting that they may comprise up to 70 per cent saturates. The distribution of entrapped yellow-fluorescing diatom oils as well as matrix oils is also readily imaged with LSFM using a combination of UV laser excitation (363 nm) and 510{+-}40 nm emission. Laminae on the Saanich Inlet samples which are highly enriched in both diatom oils and 'reproductive' auxospore cells are interpreted as recording intense episodic spring diatom blooms. The observations reported here document

  15. 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

  16. Interregional cytogenetic comparisons in Halichoeres and Thalassoma wrasses (Labridae) of coastal and insular regions of the southwestern Atlantic.

    Science.gov (United States)

    Amorim, K D J; Cioffi, M B; Bertollo, L A C; Soares, R X; Calado, L L; Borges, A T; Costa, G W W F; Molina, W F

    2017-05-10

    The distribution patterns of marine biodiversity are complex, resulting from vicariant events and species dispersion, as well as local ecological and adaptive conditions. Furthermore, the wide geographic distribution of some species may be hindered by biogeographical barriers that can interfere in the gene flow. Cytogenetic analyses in marine fishes, especially those involving populations in small remote insular environments, remain scarce. In the Western Atlantic, species of wrasses from the genera Halichoeres and Thalassoma occur in biogeographic arrangements that make it possible to analyze cytogenetic patterns between coastal and widely separated island populations. Species of these genera were punctually analyzed in some Atlantic regions. In this study, we compared several chromosomal features, such as karyotype macrostructure, heterochromatic patterns, patterns of base-specific fluorochromes, Ag-NORs, and 18S and 5S ribosomal sites in Thalassoma noronhanum, Halichoeres poeyi, and Halichoeres radiatus individuals from distinct coastal or insular regions of Atlantic. Notably, all of them are characterized by multiple 18S and 5S rDNA sites with syntenic arrangements in some chromosome pairs. Individuals of T. noronhanum (between the insular regions of Rocas Atoll and Fernando de Noronha Archipelago - FNA) and H. poeyi (coastal areas from Northeastern Brazil) show no detectable differences among their cytogenetic patterns. On the other hand, H. radiatus from FNA and São Pedro and São Paulo Archipelago exhibit differences in the frequency of rDNA sites that could suggest some level of population structuring between these insular regions. Interregional cytogenetic inventories of marine species with wide geographic distribution need to be rapidly expanded. These data will allow a better understanding of the level of chromosomal stability between vast oceanic spaces, which may be less than previously thought.

  17. Molecular cytogenetic characterisation of a mosaic add(12(p13.3 with an inv dup(3(q26.31 → qter detected in an autistic boy

    Directory of Open Access Journals (Sweden)

    Oliveira Guiomar

    2009-08-01

    Full Text Available Abstract Background Inverted duplications (inv dup of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. Associated mosaicism could be the consequence of a post-zygotic event or could result from the correction of a trisomic conception. Tetrasomies of distal segments of the chromosome 3q are rare genetic events and their phenotypic manifestations are diverse. To our knowledge, there are only 12 cases reported with partial 3q tetrasomy. Generally, individuals with this genomic imbalance present mild to severe developmental delay, facial dysmorphisms and skin pigmentary disorders. Results We present the results of the molecular cytogenetic characterization of an unbalanced mosaic karyotype consisting of mos 46,XY,add(12(p13.3 [56]/46,XY [44] in a previously described 11 years old autistic boy, re-evaluated at adult age. The employment of fluorescence in situ hybridization (FISH and multicolor banding (MCB techniques identified the extra material on 12p to be derived from chromosome 3, defining the additional material on 12p as an inv dup(3(qter → q26.3::q26.3 → qter. Subsequently, array-based comparative genomic hybridization (aCGH confirmed the breakpoint at 3q26.31, defining the extra material with a length of 24.92 Mb to be between 174.37 and 199.29 Mb. Conclusion This is the thirteenth reported case of inversion-duplication 3q, being the first one described as an inv dup translocated onto a non-homologous chromosome. The mosaic terminal inv dup(3q observed could be the result of two proposed alternative mechanisms. The most striking feature of this case is the autistic behavior of the proband, a characteristic not shared by any other patient with tetrasomy for 3q26.31 → 3qter. The present work further illustrates the advantages of the use of an integrative cytogenetic strategy, composed both by conventional and

  18. Detection of genetic alterations in bladder tumors by comparative genomic hybridization and cytogenetic analysis.

    Science.gov (United States)

    Koo, S H; Kwon, K C; Ihm, C H; Jeon, Y M; Park, J W; Sul, C K

    1999-04-15

    Comparative genomic hybridization (CGH) and conventional cytogenetic karyotyping were used to screen for losses and gains of DNA sequences along all chromosome arms in 16 bladder tumors. Cytogenetic results were highly complex. The most frequently affected chromosomes were 5, 8, 9, 21, and Y as determined by karyotyping. There was close correlation between the CGH data and cytogenetic results in near-diploid tumors with simple karyotypes. However, some unexpected results were observed by CGH in tumors with several composite clones. Common amplification of copy numbers of DNA sequences by CGH were seen at 1q, 3q, 4q, 5p, 6p/q, 7p, 8q, 11q, 12q, 13q, 17q, 18q, and 20p/q (more than 20% of cases). High level amplification was noted at 1p32, 3p21, 3q24, 4q26, 8q21-qter, 11q14-22, 12q15-21, 12q21-24, 13q21-31, 17q22, and 18q22. Deletions were noted at 2q21-qter. 4q13-23, 5q, 8p12-22, 9p/q, and 11p13-15 (more than 20% of cases). Although most amplifications and deletions have been previously described in the literature, our study showed some intriguing and uncommon regions, different from those found in past studies. These were the amplification of 7p, 8q, 11q14-qter 12q24-24, 13q21-31, and 18q22, and deletion on 4q13-23, even though loss of heterozygosity was not detected at this locus. In spite of the very complex pattern of genetic changes in bladder tumors, most of these uncommon aberrations have to be implicated in bladder tumors, and further molecular genetic methods are necessary to establish whether the chromosomal regions contain candidate genes which contributed to the initiation and progression of bladder tumors.

  19. [Cytogenetic study of 257 mentally deficient patients in psychiatric hospitals].

    Science.gov (United States)

    Bourgeois, M; Bénézech, M; Tournier-Zerbid, N; Constant-Boy, M; Benazet-Rissou, J

    1975-11-01

    Cytogenetic survey of 257 mentally retarded individuals. A cytogenetic inquiry was undertaken among 257 patients with mental retardation of two psychiatric hospitals. 25 patients show chromosomes anomalies (10%). We found: --18 trisomy 21 (Down's syndrome); --3 sexual chromosome anomalies: 47, XYY syndrome; 47, XYY/46, XY mosaïcism; 47, XXY, or Klinefelter syndrom; --1 partial delection of long arm of chromosome number 18 (46, XX, 18 q--); --3 translocations; 45, XX, t (1, 13) (p 36, q 11); 46, XX, t (5 p--, 18 p+) (p 12, p 11); 46, XY, t (9, 19) (q 21, p 18). We also found 9 large Y chromosomes (46, XY q+), 8 cases of variant chromosomes, 1 case with chromosomes associations..., we report a case of masculine Turner phenotype or Noonan syndrom.

  20. Molecular cytogenetics in haematological malignancy: current technology and future prospects.

    Science.gov (United States)

    Kearney, Lyndal; Horsley, Sharon W

    2005-09-01

    Cytogenetics has played a pivotal role in haematological malignancy, both as an aid to diagnosis and in identifying recurrent chromosomal rearrangements, an essential prerequisite to identifying genes involved in leukaemia and lymphoma pathogenesis. In the late 1980s, a series of technologies based around fluorescence in situ hybridisation (FISH) revolutionised the field. Interphase FISH, multiplex-FISH (M-FISH, SKY) and comparative genomic hybridisation (CGH) have emerged as the most significant of these. More recently, microarray technologies have come to prominence. In the acute leukaemias, the finding of characteristic gene expression signatures corresponding to biological subgroups has heralded gene expression profiling as a possible future alternative to current cytogenetic and morphological methods for diagnosis. In the lymphomas, high-resolution array CGH has successfully identified new regions of deletion and amplification, providing the prospect of disease-specific arrays.

  1. Cytogenetic toxicity of Aloe vera (a medicinal plant).

    Science.gov (United States)

    Verma, Anjana; Gupta, Ashok K; Kumar, Amod; Khan, Parimal K

    2012-01-01

    The cytogenetic toxicity of the crude leaf extract of Aloe vera, a medicinal plant, was evaluated in two test systems, onion and Swiss albino mice, using their root tip meristematic and bone marrow cells, respectively. No significant increase in structural abnormalities in chromosomes was observed, but a marked increase in cells with chromosome-number anomalies was found. The extract, however, significantly increased the mitotic index of both cell types.

  2. Cytogenetic analysis in the spermatogenesis of Triatoma melanosoma (Reduviidae; Heteroptera)

    OpenAIRE

    Bardella, V. B. [UNESP; Oliveira, Maria Tercília Vilela de Azeredo; Tartarotti, E.

    2008-01-01

    Triatomines are of great concern in public health because they are vectors of Chagas' disease. This study presents an analysis of the species Triatoma melanosoma. The cytogenetic characteristics of triatomines include holocentric chromosomes, post-reductional meiosis in the sex chromosomes and nucleolar fragmentation in the meiotic cycle. The methodology utilized consisted of the techniques of lacto-acetic orcein staining and silver ion impregnation. The organs analyzed were adult testicles. ...

  3. [The cytogenetics of human oocytes: 40 years of progress].

    Science.gov (United States)

    Pellestor, F; Andréo, B; Anahory, T; Déchaud, H; Hédon, B; Hamamah, S

    2005-05-01

    Chromosomal abnormalities account for the majority of pre- and post- implantation embryo wastage in humans. Most of these abnormalities result from maternal meiotic errors, which preferentially occur during the first meiotic division. Consequently, the cytogenetic analysis of human oocytes has then been considered as a highly valuable source of data for the investigation of both the occurrence and the origin of chromosomal abnormalities in human. During the last 4 decades, the cytogenetic analysis of human oocytes has never stopped progressing, according to the advents of new technologies. Both karyotyping and molecular cytogenetic studies have been reported to date, providing a large body of data on the incidence and the distribution of chromosomal abnormalities in human female gametes. However, these studies display a great variability in results, which may be essentially attributable to the limitations of these techniques when applied to human oocytes. The most relevant analysis have led to the estimate that 15-20% of human oocytes present chromosome abnormalities, and they have emphasized the implication of both whole chromosome non-disjunction and chromatid separation in the occurrence of aneuploidy in human oocytes. The effect of advanced maternal age on the incidence of aneuploidy in human oocytes has also been clearly evidenced by recent reports based on large sample of oocytes or polar bodies.

  4. 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.

  5. [AML treatment strategy based on cytogenetic abnormalities and somatic mutations].

    Science.gov (United States)

    Imai, Yoichi

    2015-10-01

    In addition to morphological and histocytochemical analyses of acute myeloid leukemia (AML), data on cytogenetic abnormalities and somatic mutations are used for classification of AML. The risk stratification based on these examinations facilitates determining the treatment strategy for AML. Cytogenetic risk category definitions by the Southwest Oncology Group (SWOG), Cancer and Leukemia Group B (CALGB), and The Medical Research Council (MRC) classify AML patients into favorable, intermediate, and adverse groups. Approximately 80% of patients in the intermediate group have a normal karyotype and the importance of molecular genetic analyses in these patients is increasing. Somatic mutations of NPM1, CEBPA, and FLT3 are known to be related to the prognosis of AML patients. The European LeukemiaNet (ELN) introduced risk stratification for AML patients based on cytogenetic abnormalities and NPM1, CEBPA, and FLT3 mutations. This risk stratification can be used to select only chemotherapy or chemotherapy with allogeneic hematopoietic stem cell transplantation as consolidation therapy for individual AML patients. Development of molecular targeted therapies against FLT3 or IDH mutations is in progress and these novel therapies are expected to contribute to improving the prognosis of AML patients.

  6. 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.

  7. Molecular cytogenetics: making it safe for human embryonic stem cells to enter the clinic.

    Science.gov (United States)

    Josephson, Richard

    2007-07-01

    Regenerative therapies based on transplantation of cells derived from human embryonic stem cells (hESC) are currently being prepared for clinical trials. Unfortunately, recent evidence indicates that many kinds of changes can occur to hESC during expansion in culture, and alterations to the growth control mechanisms may be required to establish hESC lines at all. Changes in the genome and epigenome can affect the validity of in vitro and animal studies, and put transplant recipients at increased risk of cancer. New molecular cytogenetic technologies enable us to examine the whole human genome with ever-finer resolution. This review describes several techniques for whole-genome analysis and the information they can provide about hESC lines. Adoption of high-resolution genotyping into routine characterization may prevent highly discouraging clinical outcomes.

  8. Accurate cytogenetic biodosimetry through automated dicentric chromosome curation and metaphase cell selection

    National Research Council Canada - National Science Library

    Liu Jin; Li Yanxin; Wilkins Ruth; Flegal Farrah; Knoll Joan H.M; Rogan Peter K

    2017-01-01

    ...) and negative objects in images. Cytogenetic biodosimetry detects dicentric chromosomes (DCs) that arise from exposure to ionizing radiation, and determines radiation dose received based on DC frequency...

  9. Toward a molecular cytogenetic map for cultivated sunflower (Helianthus annuus L.) by landed BAC/BIBAC clones.

    Science.gov (United States)

    Feng, Jiuhuan; Liu, Zhao; Cai, Xiwen; Jan, Chao-Chien

    2013-01-01

    Conventional karyotypes and various genetic linkage maps have been established in sunflower (Helianthus annuus L., 2n = 34). However, the relationship between linkage groups and individual chromosomes of sunflower remains unknown and has considerable relevance for the sunflower research community. Recently, a set of linkage group-specific bacterial /binary bacterial artificial chromosome (BAC/BIBAC) clones was identified from two complementary BAC and BIBAC libraries constructed for cultivated sunflower cv. HA89. In the present study, we used these linkage group-specific clones (~100 kb in size) as probes to in situ hybridize to HA89 mitotic chromosomes at metaphase using the BAC-fluorescence in situ hybridization (FISH) technique. Because a characteristic of the sunflower genome is the abundance of repetitive DNA sequences, a high ratio of blocking DNA to probe DNA was applied to hybridization reactions to minimize the background noise. As a result, all sunflower chromosomes were anchored by one or two BAC/BIBAC clones with specific FISH signals. FISH analysis based on tandem repetitive sequences, such as rRNA genes, has been previously reported; however, the BAC-FISH technique developed here using restriction fragment length polymorphism (RFLP)-derived BAC/BIBAC clones as probes to apply genome-wide analysis is new for sunflower. As chromosome-specific cytogenetic markers, the selected BAC/BIBAC clones that encompass the 17 linkage groups provide a valuable tool for identifying sunflower cytogenetic stocks (such as trisomics) and tracking alien chromosomes in interspecific crosses. This work also demonstrates the potential of using a large-insert DNA library for the development of molecular cytogenetic resources.

  10. 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

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

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    Mónica Chirino

    2013-04-01

    Full Text Available Male meiosis behaviour and heterochromatin characterization of three big water bug species were studied. Belostoma dentatum (Mayr, 1863, B. elongatum Montandon, 1908 and B. 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 B. dentatum, a C-positive block at the terminal region and C-positive interstitial dots on all autosomes in B. elongatum, and a little C-positive band at the terminal region of autosomes in B. 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.

  12. Recovery act. Characterizing structural controls of EGS-candidate and conventional geothermal reservoirs in the Great Basin. Developing successful exploration strategies in extended terranes

    Energy Technology Data Exchange (ETDEWEB)

    Faulds, James [Univ. of Nevada, Reno, NV (United States)

    2015-06-25

    We conducted a comprehensive analysis of the structural controls of geothermal systems within the Great Basin and adjacent regions. Our main objectives were to: 1) Produce a catalogue of favorable structural environments and models for geothermal systems. 2) Improve site-specific targeting of geothermal resources through detailed studies of representative sites, which included innovative techniques of slip tendency analysis of faults and 3D modeling. 3) Compare and contrast the structural controls and models in different tectonic settings. 4) Synthesize data and develop methodologies for enhancement of exploration strategies for conventional and EGS systems, reduction in the risk of drilling non-productive wells, and selecting the best EGS sites.

  13. Fragmentation pathways of O-alkyl methylphosphonothionocyanidates in the gas phase: toward unambiguous structural characterization of chemicals in the Chemical Weapons Convention framework.

    Science.gov (United States)

    Saeidian, Hamid; Babri, Mehran; Ashrafi, Davood; Sarabadani, Mansour; Naseri, Mohammad Taghi

    2013-08-01

    The electron-impact (EI) mass spectra of a series of O-alkyl methylphosphonothionocyanidates were studied for Chemical Weapons Convention (CWC) purposes. General EI fragmentation pathways were constructed and discussed, and collision-induced dissociation studies of the major EI ions were performed to confirm proposed fragment structures by analyzing fragment ions of deuterated analogs and by use of density functional theory (DFT) calculations. Thiono-thiolo rearrangement, McLafferty-type rearrangement, and a previously unknown intramolecular electrophilic aromatic substitution reaction were observed and confirmed. The study also focused on differentiation of isomeric compounds. Retention indices for all compounds, and an electrophilicity index for several compounds, are reported and interpreted.

  14. Borrelia persica: In vitro cultivation and characterization via conventional PCR and multilocus sequence analysis of two strains isolated from a cat and ticks from Israel.

    Science.gov (United States)

    Schwarzer, Sandra; Margos, Gabriele; Overzier, Evelyn; Fingerle, Volker; Baneth, Gad; Straubinger, Reinhard K

    2015-09-01

    Borrelia persica, one of the pathogenic agents of tick-borne relapsing fever, is transmitted by the soft tick Ornithodoros tholozani. It causes infections in humans as well as in animals. In this study, we developed a medium, termed Pettenkofer/LMU Bp, for reliable in vitro cultivation. Cell densities up to 5.2×10(7) viable cells/ml were achieved over at least 40 passages. The cultivable B. persica strain isolated from a cat was further analyzed by amplification of the flaB gene using conventional PCR. In addition, seven housekeeping genes (clpA, clpX, pepX, pyrG, recG, rplB and uvrA) of this B. persica strain and a second strain isolated out of pooled ticks from Israel were amplified and the phylogenetic relationships among Borrelia species were analyzed. The results of the conventional PCR and the multilocus sequence analysis confirmed our isolates as B. persica. Copyright © 2015 Elsevier GmbH. All rights reserved.

  15. Characterization of sunflower oils obtained separately by pressing and subsequent solvent extraction from a new line of seeds rich in phytosterols and conventional seeds

    Directory of Open Access Journals (Sweden)

    Aguirre Marta R.

    2014-11-01

    Full Text Available In this study we evaluate the chemical composition of sunflower oils obtained separately by pressing and subsequent solvent extraction from a new seeds rich in phytosterols (IASP-18 and conventional seeds (HA-89. Results have shown that the total content of oil was much lower in the IASP-18 (18.1% than in the conventional (37.5% seeds. The extraction yield obtained by pressing was as low as 3% in the IASP-18 seeds and 37.5% in HA-89, while in the solvent extraction it was of the same order (~18 wt% on seeds extracted by pressing for the two types of seeds. No significant changes in the fatty acid composition were found between the oils extracted by the two procedures, but the pressed oils presented significantly lower acidity and larger content of the unsaponifiable fraction. Expressed as free sterols, the total sterols were 37–38% more concentrated in the oils extracted with solvent, reaching amounts of 13 700 and 6500 mg/kg in the IASP-18 and HA-89 oils, respectively. No substantial differences were found in the composition of total sterols analysed as free sterols between the oils extracted with the two procedures, but the contents of free sterols and sterol glycosides were much higher in the oils extracted with solvent.

  16. A correlation study of immunophenotypic, cytogenetic, and clinical features of 180 AML patients in China.

    Science.gov (United States)

    Zheng, Jine; Wang, Xingbing; Hu, Yu; Yang, Jing; Liu, Jun; He, Yanli; Gong, Qing; Yao, Junxia; Li, Xiaoqing; Du, Wen; Huang, Shiang

    2008-01-01

    New WHO classification has been widely applied in the diagnosis of leukemia. To elucidate the immunophenotype of acute myeloid leukemia (AML) and characterize the correlation among morphological, immunological, cytogenetic, and clinical features, we studied the bone marrow immunophenotypes of 180 AML patients in China by flow cytometry. The results showed that CD34, CD2, CD14, CD19, CD56, and HLA-DR were correlated with FAB subtypes. Amongst the 180 patients enrolled in this study, 122 cases were also subjected to karyotype analysis by G-banding technology and abnormal karyotypes were detected in 69 out of 122 patients. Correlation assay showed that t(8;21) was only present in 16 AML-M2 patients, and strongly associated with the individual or combinational expressions of CD15/CD19/CD34/CD56. As to M3, although lymphoid lineage antigens were observed in a considerable number of patients, they were never detected in t(15;17) positive patients. The expressions of CD22, CD56, and TdT showed significant correlation with the overall presence of abnormal karyotype. Additionally, the expressions of CD4, CD7, CD14, CD56, and TdT were positively correlated with clinical features such as white blood cell count, platelet count, and patient's age. In conclusion, immunophenotype analysis was useful for AML diagnosis and classification. At the same time, the data also suggested that the karyotype abnormalities and clinical features were tightly linked with abnormal antigen expression characteristics in AML patients. As one of the largest correlative study performed in China, the results highlighted the importance of a morphological, immunological, and cytogenetic classification of AML that might constitute a working basis for future studies aimed at a better definition of clinicopathological features and optimal treatment strategy for these leukemias. (c) 2007 Clinical Cytometry Society

  17. Cytogenetic studies of stainless steel welders using the tungsten inert gas and metal inert gas methods for welding.

    Science.gov (United States)

    Jelmert, O; Hansteen, I L; Langård, S

    1995-03-01

    Cytogenetic damage was studied in lymphocytes from 23 welders using the Tungsten Inert Gas (TIG), and 21 welders using the Metal Inert Gas (MIG) and/or Metal Active Gas (MAG) methods on stainless steel (SS). A matched reference group I, and a larger reference group II of 94 subjects studied during the same time period, was established for comparison. Whole blood conventional cultures (CC), cultures in which DNA synthesis and repair were inhibited (IC), and the sister chromatid exchange (SCE) assay were applied in the study. For the CC a statistically significant decrease in chromosome breaks and cells with aberrations was found for both TIG/SS and MIG/MAG/SS welders when compared with reference group II. A non-significant decrease was found for the corresponding parameters for the two groups of welders when compared with their matched referents. A statistically significant negative association was found between measurements of total chromium (Cr) in inhaled air and SCE, and a weaker negative correlation with hexavalent Cr (Cr(VI)) in air. In conclusion, no cytogenetic damage was found in welders exposed to the TIG/SS and MIG/MAG/SS welding fumes with low content of Cr and Ni. On the contrary, a decline in the prevalence of chromosomal aberrations was indicated in the TIG/SS and MIG/MAG/SS welders, possibly related to the suggested enhancement of DNA repair capacity at slightly elevated exposures.

  18. 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.

  19. Cytogenetic effect of 5-azacytidine in patients with hematological malignancies

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    Jessica Romy Tsuda

    2011-10-01

    Full Text Available BACKGROUND: Recently, the importance of cytogenetics has grown in the diagnosis, prognosis and treatment of leukemias and myelodysplastic syndromes. 5-azacytidine is a drug that has well-known cytogenetical effects and is approved in the treatment of myelodysplastic syndromes. To date, no studies have been performed to evaluate the impact of 5-azacytidine on the chromosomes of patients with hematological neoplasias. This study aimed to investigate the effects of 5-azacytidine on chromosomes of patients with different hematological malignancies using G-band analyses to identify possible cytogenetical alterations. METHODS: The peripheral blood of 18 patients with hematological malignancies and 18 controls was collected in heparinized tubes. 5-azacytidine was added, at a final concentration of 10-5M, to cultures 7 hours prior to harvest. RESULTS: Uncoiled centromeric/pericentromeric heterochromatin of chromosomes-1, 9 and 16 occurred more frequently in the patients than in controls. This higher frequency of uncoiled heterochromatin was statistically significant (p-value = 0.004 for chromosome-9. Conversely, we observed that the fragile site at 19q13 was more frequent in controls (p-value = 0.0468. CONCLUSIONS: The results of this study suggest that satellite sequences, located in the heterochromatin of chromosome-9, are hypomethylated in hematological malignancies. This hypomethylation may contribute to the disease, activating transposable elements and/or promoting genomic instability, enabling the loss of heterozygosity of important tumor suppressor genes. An investigation of the 19q13 region may help to understand whether or not the predominant occurrence of the fragile site at 19q13 in controls is due to hypermethylation of this region.

  20. Cytogenetic effect of 5-azacytidine in patients with hematological malignancies.

    Science.gov (United States)

    Tsuda, Jessica Romy; Segato, Rosimeire; Barbosa, Waldênia; Smith, Marília de Arruda Cardoso; Payão, Spencer Luiz Marques

    2011-01-01

    Recently, the importance of cytogenetics has grown in the diagnosis, prognosis and treatment of leukemias and myelodysplastic syndromes. 5-azacytidine is a drug that has well-known cytogenetical effects and is approved in the treatment of myelodysplastic syndromes. To date, no studies have been performed to evaluate the impact of 5-azacytidine on the chromosomes of patients with hematological neoplasias. This study aimed to investigate the effects of 5-azacytidine on chromosomes of patients with different hematological malignancies using G-band analyses to identify possible cytogenetical alterations. The peripheral blood of 18 patients with hematological malignancies and 18 controls was collected in heparinized tubes. 5-azacytidine was added, at a final concentration of 10-5M, to cultures 7 hours prior to harvest. Uncoiled centromeric/pericentromeric heterochromatin of chromosomes-1, 9 and 16 occurred more frequently in the patients than in controls. This higher frequency of uncoiled heterochromatin was statistically significant (p-value = 0.004) for chromosome-9. Conversely, we observed that the fragile site at 19q13 was more frequent in controls (p-value = 0.0468). The results of this study suggest that satellite sequences, located in the heterochromatin of chromosome-9, are hypomethylated in hematological malignancies. This hypomethylation may contribute to the disease, activating transposable elements and/or promoting genomic instability, enabling the loss of heterozygosity of important tumor suppressor genes. An investigation of the 19q13 region may help to understand whether or not the predominant occurrence of the fragile site at 19q13 in controls is due to hypermethylation of this region.

  1. Cytogenetic Instability in Childhood Acute Lymphoblastic Leukemia Survivors

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    María Sol Brassesco

    2011-01-01

    Full Text Available Contemporary anticancer therapies have largely improved the outcome for children with cancer, especially for Acute Lymphoblastic Leukemia (ALL. Actually, between 78% and 85% of patients achieve complete remission and are alive after 5 years of therapy completion. However, as cure rates increase, new concerns about the late effects of genotoxic treatment emerge, being the risk of developing secondary neoplasias, the most serious life-threatening rising problem. In the present paper, we describe and review the cytogenetic findings in peripheral lymphocytes from ALL survivors, and discuss aspects associated to the occurrence of increased chromosome rearrangements in this growing cohort.

  2. 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......(1) (p24----q31) t(1;1) (pter----p33::ter): (b) 44, X, -9, -14, -22, -X, +4, +del(X) (pter----q26), and (c) 44, XY, -19, -22, respectively....

  3. 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…

  4. 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

  5. Fragmentation pathways and structural characterization of organophosphorus compounds related to the Chemical Weapons Convention by electron ionization and electrospray ionization tandem mass spectrometry.

    Science.gov (United States)

    Hosseini, Seyed Esmaeil; Saeidian, Hamid; Amozadeh, Ali; Naseri, Mohammad Taghi; Babri, Mehran

    2016-12-30

    For unambiguous identification of Chemical Weapons Convention (CWC)-related chemicals in environmental samples, the availability of mass spectra, interpretation skills and rapid microsynthesis of suspected chemicals are essential requirements. For the first time, the electron ionization single quadrupole and electrospray ionization tandem mass spectra of a series of O-alkyl N-[bis(dimethylamino)methylidene]-P-methylphosphonamidates (Scheme 1, cpd 4) were studied for CWC verification purposes. O-Alkyl N-[bis(dimethylamino)methylidene]-P-methylphosphonamidates were prepared through a microsynthetic method and were analyzed using electron ionization and electrospray ionization mass spectrometry with gas and liquid chromatography, respectively, as MS-inlet systems. General EI and ESI fragmentation pathways were proposed and discussed, and collision-induced dissociation studies of the protonated derivatives of these compounds were performed to confirm proposed fragment ion structures by analyzing mass spectra of deuterated analogs. Mass spectrometric studies revealed some interesting fragmentation pathways during the ionization process, such as McLafferty rearrangement, hydrogen rearrangement and a previously unknown intramolecular electrophilic aromatic substitution reaction. The EI and ESI fragmentation routes of the synthesized compounds 4 were investigated with the aim of detecting and identifying CWC-related chemicals during on-site inspection and/or off-site analysis and toxic chemical destruction monitoring. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  6. [Chronic myeloid leukemia: from cytogenetics to molecular biology].

    Science.gov (United States)

    Aissaoui, Z; Lai, J; Fenaux, P; Kerckaert, J P

    1990-01-01

    Chronic myeloid leukaemia (CML) is an excellent model for the study of molecular rearrangements caused by a cytogenetic anomaly associated with a disease. The formation of a Philadelphia chromosome by translocation between chromosomes 9 and 22 provokes the breaking and migration of a cellular oncogen (ABL), located in the 9q34 region, towards chromosome 22 and the 22q11 region where the PHL gene is situated. This gene is broken in the bcr area the rearrangements of which are specific to CML. The ABL and PHL genes fragments fuse together, creating a new hybrid gene which is transcribed into an 8.5 kilobase messenger RNA specific to CML. This RNA is translated into a 210 kilodalton protein whose abnormally high tyrosine kinase activity seems to contribute to the development of the disease. Genetic engineering techniques improve our understanding of CML molecular mechanisms and can be very useful to clinicians as they permit the diagnosis of CML in some cases devoid of chromosomal markers, and the detection of a possible relapse in marrow-grafted patients with a much greater sensitivity (one in 100,000 cells) than that of cytogenetics.

  7. 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

  8. 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.

  9. [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.

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

    Science.gov (United States)

    Rosas, I; Carbajal, M E; Gómez-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.

  11. Characterization of Dissolved Organic Matter in River Water by Conventional Methods and Direct Sample Analysis-Time of Flight-Mass Spectrometry

    Directory of Open Access Journals (Sweden)

    T. Garrido Reyes

    2016-01-01

    Full Text Available The dissolved organic matter in surface waters is composed of fractions of different molecular weight and polarity, characteristics that determine their capacity for complexing different types of pollutants and their environmental impact. In this study, the dissolved organic matter in the surface water of the Bio-Bio River (Central Region of Chile was characterized chemically and spectroscopically after fractionating by molecular weight and polarity. The technique of direct sample analysis-time of flight-mass spectrometry (DSA-TOF-MS was used to obtain more information on the composition of dissolved organic matter. It is concluded that dissolved organic matter found in the water of the river from the site of minor human impact (Rucalhue has a predominantly natural origin, with a high content of aromatic carbon, in contrast to dissolved organic matter found in the waters of the sites that have higher human impact (Laja and Concepción, characterized by a greater molecular size and higher organic carbon content. These results are consistent with those obtained from DSA-TOF-MS, where higher correlation was observed between the mass spectrum of the standard commercial humic acid and dissolved organic matter found in the sectors of Laja and Concepción, unlike the spectrum mass of lignin which is more like dissolved organic matter found in the sector Rucalhue.

  12. Comparative cytogenetics of Carnegiella marthae and Carnegiella strigata (Characiformes, Gasteropelecidae and description of a ZZ/ZW sex chromosome system

    Directory of Open Access Journals (Sweden)

    Maria Leandra Terencio

    2008-01-01

    Full Text Available Comparative cytogenetic analyses of hatchetfishes Carnegiella marthae and Carnegiella strigata (Gasteropelecidae from the Rio Negro basin were performed using conventional Giemsa staining, silver (Ag -staining and C-banding. The diploid chromosome numbers of both species equaled 2n = 50 but their karyotypes were distinct. We found evidence for sex chromosomes in C. marthae since karyotype of males presented 20 M + 12 SM + 4 ST + 14 A and ZZ ST chromosomes while the females presented 20 M + 12 SM + 4 ST + 14 A and ZW ST chromosomes of distinct size. Conversely, C. strigata presented 4 M + 4 SM + 2 ST + 40 A chromosomes without sex chromosome heteromorphism. Karyotypes of both species had two NOR-bearing SM chromosomes of distinct size indicating the presence of multiple NOR phenotypes. The sex chromosome pair had specific C-banding pattern allowing identification of both Z and W. This heteromorphic system has previously been described for the gasteropelecids.

  13. Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?

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    Sílvia Saumell

    Full Text Available Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8 can be found as a constitutional mosaicism (cT8M. We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH. In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.

  14. Cytogenetic evidence of mixed disomic and polysomic inheritance in an allotetraploid (AABB) Musa genotype.

    Science.gov (United States)

    Jeridi, Mouna; Perrier, Xavier; Rodier-Goud, Marguerite; Ferchichi, Ali; D'Hont, Angélique; Bakry, Frédéric

    2012-12-01

    Edible bananas originated mainly from two wild species, Musa acuminata Colla (AA) and Musa balbisiana Colla (BB), and triploid cultivars with an AAA, AAB or ABB genome are the most widely used. In the present study, chromosome pairing affinities are investigated in a sterile AB Indian variety and in its fertile colchicine-induced allotetraploid (AABB) derivative to determine the inheritance pattern of the tetraploid genotype. The potential implications of interspecific recombination and chromosomal composition of diploid gametes for Musa improvement are presented. The pairing of different chromosome sets at diploid and tetraploid levels was investigated through a combination of conventional cytogenetic and genomic in-situ hybridization (GISH) analyses of meiotic chromosomes, leading to a likelihood model of the pairing behaviour. GISH analysis of mitotic chromosomes was also conducted to reveal the chromosome constitution of hybrids derived from crosses involving the allotetraploid genotype. Analysis of chromosome associations at both ploidy levels suggested that the newly formed allotetraploid behaves as a 'segmental allotetraploid' with three chromosome sets in a tetrasomic pattern, three sets in a likely disomic pattern and the five remaining sets in an intermediate pattern. Balanced and unbalanced diploid gametes were detected in progenies, with the chromosome constitution appearing to be more homogenous in pollen than in ovules. Colchicine-induced allotetraploids in Musa provide access to the genetic background of natural AB varieties. The segmental inheritance pattern exhibited by the AABB allotetraploid genotype implies chromosome exchanges between M. acuminata and M. balbisiana species and opens new horizons for reciprocal transfer of valuable alleles.

  15. A clinical, cytogenetic, FISH and molecular study of supernumerary marker 15 chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Dennis, N.R. [Princess Anne Hospital, Southampton (United Kingdom); Crolla, J.A.; Harvey, J.F. [Salisbury District Hospital (United Kingdom)

    1994-09-01

    We studied 17 patients with supernumerary marker chromosomes shown by fluorescent in situ hybridization (FISH) with the 15-centromere specific probe pTRA-25 to be 15-derived. Genetic constitution of the marker chromosomes was investigated using FISH, Southern blot analysis and PCR for proximal and distal loci on 15q as well as conventional cytogenetics. Eight of the 17 patients were mentally retarded. Six of the eight carried a de novo marker 15 containing one or two doses of loci known to be in or near the Prader-Willi/Angelman (PWS/AS) region, whereas none of the nine non-retarded patients had duplications of this region, and only two of the eight whose parents were available had a de novo marker. None of the mentally retarded patients had PWS or AS. In two retarded patients (one de novo, one familial) there was no duplication of the PWS/AS region. Uniparental disomy affecting the normal 15 homologs was excluded in 10 of the patients, including all eight with mental retardation.

  16. Cytogenetic biodosimetry and dose-rate effect after radioiodine therapy for thyroid cancer

    Energy Technology Data Exchange (ETDEWEB)

    Khvostunov, Igor K. [Russian Ministry of Health Care, A.F. Tsyb Medical Radiological Research Center, Branch of the National Medical Research Radiological Centre, Obninsk, Kaluga Region (Russian Federation); Nagasaki University, Department of Radiation Molecular Epidemiology, Atomic Bomb Disease Institute, Nagasaki (Japan); Saenko, Vladimir A.; Yamashita, Shunichi [Nagasaki University, Department of Radiation Molecular Epidemiology, Atomic Bomb Disease Institute, Nagasaki (Japan); Krylov, Valeri; Rodichev, Andrei [Russian Ministry of Health Care, A.F. Tsyb Medical Radiological Research Center, Branch of the National Medical Research Radiological Centre, Obninsk, Kaluga Region (Russian Federation)

    2017-08-15

    This study set out to investigate chromosomal damage in peripheral blood lymphocytes of thyroid cancer patients receiving {sup 131}I for thyroid remnant ablation or treatment of metastatic disease. The observed chromosomal damage was further converted to the estimates of whole-body dose to project the adverse side effects. Chromosomal aberration analysis was performed in 24 patients treated for the first time or after multiple courses. Blood samples were collected before treatment and 3 or 4 days after administration of 2-4 GBq of {sup 131}I. Both conventional cytogenetic and chromosome 2, 4 and 12 painting assays were used. To account for dose-rate effect, a dose-protraction factor was applied to calculate the whole-body dose. The mean dose was 0.62 Gy (95% CI: 0.44-0.77 Gy) in the subgroup of patients treated one time and 0.67 Gy (95% CI: 0.03-1.00 Gy) in re-treated patients. These dose estimates are about 1.7-fold higher than those disregarding the effect of exposure duration. In re-treated patients, the neglected dose-rate effect can result in underestimation of the cumulative whole-body dose by the factor ranging from 2.6 to 6.8. Elevated frequency of chromosomal aberrations observed in re-treated patients before radioiodine therapy allows estimation of a cumulative dose received from all previous treatments. (orig.)

  17. Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.

    Science.gov (United States)

    Hofherr, Sean E; Wiktor, Anne E; Kipp, Benjamin R; Dawson, D Brian; Van Dyke, Daniel L

    2011-11-01

    Approximately 8% of couples attempting to conceive are infertile and male infertility accounts for approximately 50% of infertility among couples. Up to 25% of males with non-obstructive infertility have chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. These are detected by conventional chromosome and Y-microdeletion analysis. In this study, we reviewed the results of testing performed in the Mayo Clinic Cytogenetics and Molecular Genetics Laboratories and compared our findings with previously published reports. This study includes 2,242 chromosome studies from males ≥18 years of age referred for infertility between 1989 and 2000 and 2,749 Y-deletion molecular studies performed between 2002 and 2009. 14.3% of infertile males tested by karyotyping had abnormalities identified. These include: (258) 47,XXY and variants consistent with Klinefelter syndrome, (3) combined 47,XXY and balanced autosomal rearrangements, (9) 47,XYY, (9) Y-deletions, (7) 46,XX males, (32) balanced rearrangements, and (1) unbalanced rearrangement. 3.6% of males tested for Y-microdeletion analysis had abnormalities identified, 90% of which included a deletion of the AZFc region. This study highlights the need of males suffering from non-obstructive infertility to have laboratory genetic testing performed. An abnormal finding can have significant consequences to assisted reproductive techniques and fertility treatment, and provide a firm diagnosis to couples with longstanding infertility.

  18. 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.

  19. A high-resolution cucumber cytogenetic map integrated with the genome assembly.

    Science.gov (United States)

    Sun, Jianying; Zhang, Zhonghua; Zong, Xu; Huang, Sanwen; Li, Zongyun; Han, Yonghua

    2013-07-09

    High-resolution cytogenetic map can provide not only important biological information on genome organization but also solid foundation for genetic and genomic research. The progress in the molecular and cytogenetic studies has created the basis for developing the cytogenetic map in cucumber (Cucumis sativus L.). Here, the cytogenetic maps of four cucumber chromosomes (chromosomes 1, 3-5) were constructed by fluorescence in situ hybridization (FISH) analysis on cucumber pachytene chromosomes. Together with our previously constructed cytogenetic maps of three cucumber chromosomes (chromosomes 2, 6-7), cucumber has a complete cytogenetic map with 76 anchoring points between the genetic, the cytogenetic and the draft genome assembly maps. To compare our pachytene FISH map directly to the genetic linkage and draft genome assembly maps, we used a standardized map unit-relative map position (RMP) to produce the comparative map alignments. The alignments allowed a global view of the relationship of genetic and physical distances along each cucumber chromosome, and accuracy and coverage of the draft genome assembly map. We demonstrated a good correlation between positions of the markers in the linkage and physical maps, and essentially complete coverage of chromosome arms by the draft genome assembly. Our study not only provides essential information for the improvement of sequence assembly but also offers molecular tools for cucumber genomics research, comparative genomics and evolutionary study.

  20. The mutational oncoprint of recurrent cytogenetic abnormalities in adult patients with de novo acute myeloid leukemia.

    Science.gov (United States)

    Eisfeld, A-K; Mrózek, K; Kohlschmidt, J; Nicolet, D; Orwick, S; Walker, C J; Kroll, K W; Blachly, J S; Carroll, A J; Kolitz, J E; Powell, B L; Wang, E S; Stone, R M; de la Chapelle, A; Byrd, J C; Bloomfield, C D

    2017-10-01

    Recurrent chromosomal abnormalities and gene mutations detected at the time of diagnosis of acute myeloid leukemia (AML) are associated with particular disease features, treatment response and survival of AML patients, and are used to denote specific disease entities in the World Health Organization classification of myeloid neoplasms and acute leukemia. However, large studies that integrate cytogenetic and comprehensive mutational information are scarce. We created a comprehensive oncoprint of mutations associated with recurrent cytogenetic findings by combining the information on mutational patterns of 80 cancer- and leukemia-associated genes with cytogenetic findings in 1603 adult patients with de novo AML. We show unique differences in the mutational profiles among major cytogenetic subsets, identify novel associations between recurrent cytogenetic abnormalities and both specific gene mutations and gene functional groups, and reveal differences in cytogenetic and mutational features between patients younger than 60 years and those aged 60 years or older. The identified associations between cytogenetic and molecular genetic data may help guide mutation testing in AML, and result in more focused application of targeted therapy in patients with de novo AML.

  1. Rapid sex determination using PCR technique compared to classic cytogenetics.

    Science.gov (United States)

    Settin, Ahmad; Elsobky, Ezzat; Hammad, Ayman; Al-Erany, Abeer

    2008-01-01

    Fetal sexual differentiation relies on the translation of chromosomal sex established at fertilization into gonadal sex and somatic sex as development proceeds. In cases where chromosomal, gonadal, and somatic sex are incongruent in human infants and children, rapid establishment of the diagnosis and implementation of medical and surgical management is of paramount importance, since the gender identity is so important to the psychological well-being throughout life. This work was done in order to test the value of PCR technique for rapid sex determination compared to classic cytogenetic technique. Subjects included 20, cases including 10 neonates with ambiguous genitalia, 2 adult females with delayed puberty and 8 adult males with infertility, in addition to 20 normal infants of both sexes as a control group. The diagnosis of sex was attempted through examination, cytogenetic study, ultrasonography, gonadal biopsy and hormonal analysis, in addition to PCR amplification for the detection of SRY and ATL1 gene loci on Y and X chromosomes respectively. Four neonates were diagnosed as partial testicular feminization showed both positive bands for the Y and X chromosomes and a karyogram of 46/XY. Three neonates were diagnosed as true hermaphrodites showed positive amplification for both Y and X chromosomes with a mosaic karyogram 46,XX/XY. Three neonates were diagnosed as cases of adrenogenital syndrome showed positive amplification of only the Xchromosome and had a karyogram of 46/XX. One of the two adult females was diagnosed as turner syndrome showed positive amplification of the X chromosome and a karyogram of 45/XO; the other one was diagnosed as complete testicular feminization had a positive amplification of X and Y chromosomes and a karyogram of 46/XY. The 8 adult males with infertility showed a positive amplification of X and Y chromosome and a karyogram of 47/XXY (Klinefelter syndrome) in 7 cases and 46/XY gonadal dysgenesis in one case. We concluded that PCR

  2. 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.

  3. Cytogenetic analysis of Triatoma pseudomaculata Corrêa and Espínola, 1964 (Hemiptera, Triatominae) from different Brazilian states.

    Science.gov (United States)

    Imperador, C H L; Alevi, K C C; Oliveira, J; Rosa, J A; Azeredo-Oliveira, M T V

    2016-03-31

    Triatoma maculata and T. pseudomaculata are allopatric; however, it is believed that T. maculata was introduced into the Brazilian northeast by passive transportation of the nymphs between the feathers of migratory birds, followed by the speciation of T. pseudomaculata. T. pseudomaculata is the second most epidemiologically important species in the northeast of Brazil after T. brasiliensis. Therefore, given the broad range of T. pseudomaculata, the objective of the present study was to cytogenetically analyze different populations of T. pseudomaculata from different Brazilian states in order to investigate possible intraspecific chromosomal variation between them. Three adult T. pseudomaculata males from each population (Pernambuco, Ceará, Paraíba, Bahia, Rio Grande do Norte, and Piauí) were analyzed by lacto-acetic orcein and C-banding. All of the specimens analyzed exhibited the same cytogenetic characteristics, i.e., 22 chromosomes (20 autosomes and XY), a chromocenter formed by the X and Y sex chromosomes and one pair of autosomes, and heterochromatin blocks in three or four pairs of autosomes. These data confirm that all of the populations analyzed were T. pseudomaculata, and although they may be subject to different selection pressures they have maintained the genetic integrity that characterizes the species.

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

    Science.gov (United States)

    Kuznetsova, Valentina G.; Grozeva, Snejana M.; Nokkala, Seppo; Nokkala, Christina

    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 cytogenetic characters of the Cimicomorpha and outline the chief objectives and goals of future investigations in the field. PMID:22287915

  5. Limited flow cytometry panels on bone marrow specimens reduce costs and predict negative cytogenetics.

    Science.gov (United States)

    Hoffmann, Douglas G; Kim, Burton H

    2014-01-01

    To determine the clinical and financial impact and predictive value of a limited flow cytometry strategy in the evaluation of bone marrow specimens. Consecutive bone marrow cases (n = 1,242) were reviewed following the independent, prospective application of two flow cytometry protocols: a limited marker strategy and a multimarker strategy. Combined morphologic and flow cytometry findings were also compared with cytogenetic results. A limited flow cytometry strategy did not have a negative impact on disease detection and resulted in reduced utilization and cost. In addition, negative combined morphology and flow cytometry had a 98.4% predictive value for negative cytogenetics (P flow cytometric and cytogenetic studies on these samples.

  6. The Hague Judgments Convention

    DEFF Research Database (Denmark)

    Nielsen, Peter Arnt

    2011-01-01

    The Hague Judgments Convention of 2005 is the first global convention on international jurisdiction and recognition and enforcement of judgments in civil and commercial matters. The author explains the political and legal background of the Convention, its content and certain crucial issues during...

  7. Cytogenetic effects of benzimidazoles in mouse bone marrow.

    Science.gov (United States)

    Barale, R; Scapoli, C; Meli, C; Casini, D; Minunni, M; Marrazzini, A; Loprieno, N; Barrai, I

    1993-06-01

    The cytogenetic effects of three benzimidazoles, i.e., benomyl, methyl thiophanate and methyl 2-benzimidazolecarbamate (MBC), were studied in mouse bone marrow cells by analyzing three genetic endpoints: micronuclei, structural chromosome aberrations plus or minus gaps, and aneugenic effects (hyperdiploidy or polyploidy). In general, the effects were small, but it was observed that benomyl and MBC significantly induced micronuclei as well as aneugenic effects, hyperdiploidy (no metaphases with more than one or two extra chromosomes, 2n + 1 or 2n + 2, were observed) and polyploidy (4n). The induction of chromosome gaps and breaks was less evident. Methyl thiophanate significantly induced micronuclei, but it was less effective than benomyl and MBC. Our results showed that micronuclei are a good indicator of aneugenic effects in mouse bone marrow cells. A curvilinear trend test has been devised to fit the curves originating from the time-dependent responses.

  8. Use of chromosome microdissection in fish molecular cytogenetics

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    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.

  9. Synthesis, characterization, and in vitro activity against Candida spp. of fluconazole encapsulated on cationic and conventional nanoparticles of poly(lactic-co-glycolic acid

    Directory of Open Access Journals (Sweden)

    Gómez-Sequeda N

    2017-05-01

    Full Text Available Nicolás Gómez-Sequeda,1 Rodrigo Torres,2 Claudia Ortiz3 1School of Biology, 2School of Chemistry, Faculty of Sciences, 3School of Microbiology, Faculty of Health, Universidad Industrial de Santander, Bucaramanga, Santander, Colombia Abstract: In this study, nanoparticles (NPs of poly(lactic-co-glycolic acid (PLGA loaded with fluconazole (FLZ and FLZ-NPs coated with the cationic polymer polyethylenimine (PEI (FLZ-NP-PEI were synthetized in order to improve antimycotic activity against four strains of Candida spp. of clinical relevance. FLZ-NPs and FLZ-NP-PEI were synthesized by double emulsion solvent-diffusion (DES-D and characterized. Minimum inhibitory concentration (MIC50 and minimum fungicide concentration (MFC were determined in vitro by culturing Candida strains in the presence of these nanocompounds. FLZ-NPs were spherical in shape with hydrodynamic sizes of ~222 nm and surface charge of -11.6 mV. The surface charges of these NPs were successfully modified using PEI (FLZ-NP-PEI with mean hydrodynamic sizes of 281 nm and surface charge of 23.5 mV. The efficiency of encapsulation (~53% and a quick release of FLZ (≥90% after 3 h were obtained. Cytotoxicity assay showed a good cell viability for FLZ-NPs (≥86%, and PEI-modified NPs presented a decrease in cell viability (~38%. FLZ-NPs showed an increasing antifungal activity of FLZ for sensitive (Candida parapsilosis ATCC22019 and Candida albicans ATCC10231, MIC50 =0.5 and 0.1 µg/mL, respectively and resistant strains (Candida glabrata EMLM14 and Candida krusei ATCC6258, MIC50 =0.1 and 0.5 µg/mL, respectively. FLZ-NP-PEI showed fungicidal activity even against C. glabrata and C. krusei (MFC =4 and 8 µg/mL, respectively. MIC50 values showed best results for FLZ-NPs and FLZ-NP-PEI. Nevertheless, only FLZ-NP-PEI displayed fungicidal activity against the studied strains. Keywords: drug delivery systems, double emulsion diffusion, nanoparticles, minimal inhibitory concentration

  10. 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

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

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    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.

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

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    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.

  13. Impact of baseline cytogenetic findings and cytogenetic response on outcome of high-risk myelodysplastic syndromes and low blast count AML treated with azacitidine.

    Science.gov (United States)

    Sébert, Marie; Komrokji, Rami S; Sekeres, Mikkael A; Prebet, Thomas; Cluzeau, Thomas; Santini, Valeria; Gyan, Emmanuel; Sanna, Alessandro; Ali, Najla HAl; Hobson, Sean; Eclache, Virginie; List, Alan; Fenaux, Pierre; Adès, Lionel

    2017-12-01

    Karyotype according to the revised IPSS is a strong independent prognostic factor for overall survival (OS) in myelodysplastic syndromes (MDS), however established in untreated patients. The prognostic impact of cytogenetics and cytogenetic response (CyR) in MDS patients receiving azacitidine (AZA) remains uncertain. We examined the prognostic value of baseline cytogenetics and CyR for overall response rate (ORR) and OS in 702 AZA-treated higher risk MDS and low blast count acute myeloid leukemia (AML), including 493 (70%) with abnormal karyotype. None of the cytogenetic abnormalities had significant impact on ORR (43.9%) or complete response (15.35%), except 3q abnormalities and complex karyotypes, which were associated with a lower ORR. OS differed significantly across all R-IPSS cytogenetic subgroups (pimpact of CyR on survival, but when restricting to MDS (ie: <20% marrow blasts) achievement of CCyR was associated with better OS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Cytogenetics investigation in different populations of Anthemis tinctoria L. (yellow camomile) accessions from Iran

    National Research Council Canada - National Science Library

    Javadi, Hamideh; Alizadeh, Mohamad Ali; Emami, Hosein; Shanjani, Parvin Salehi

    2013-01-01

    Twelve populations of Anthemis tinctoria L. (yellow camomile) medicinal plant belonging to the tribe Anthemideae within the family Compositae, from different Iranian origins were studied in aspect of cytogenetical marker...

  15. 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

  16. 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.

    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

  17. 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

  18. A new Bayesian model applied to cytogenetic partial body irradiation estimation.

    Science.gov (United States)

    Higueras, Manuel; Puig, Pedro; Ainsbury, Elizabeth A; Vinnikov, Volodymyr A; Rothkamm, Kai

    2016-03-01

    A new zero-inflated Poisson model is introduced for the estimation of partial body irradiation dose and fraction of body irradiated. The Bayes factors are introduced as tools to help determine whether a data set of chromosomal aberrations obtained from a blood sample reflects partial or whole body irradiation. Two examples of simulated cytogenetic radiation exposure data are presented to demonstrate the usefulness of this methodology in cytogenetic biological dosimetry. © Crown copyright 2015.

  19. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

    Directory of Open Access Journals (Sweden)

    D Saxena

    2016-01-01

    Full Text Available Background and Introduction: Chromosomal abnormality is found in about half of first-trimester abortions. Karyotype is the gold standard to detect chromosomal abnormalities. Multiplex ligation-dependent probe amplification (MLPA offers advantage over karyotype in terms of lower failure rate, faster turnaround time, and much higher resolution than conventional karyotyping and found to be 98% concordant with conventional karyotype. Aim: We performed this study to look for the utility of MLPA in diagnosing chromosomal abnormalities in first-trimester abortions. Materials and Methods: MLPA using subtelomeric SALSA probe sets (P036 and P070 was used to detect cytogenetic abnormalities in products of conception in missed/spontaneous abortions. Results: A total of ninety abortus samples were analyzed by MLPA. Successful results were provided in (67 74.4% of the cases while no conclusion could be drawn in 25.6% (23 of the cases. Fifty-five (82.1% cases were cytogenetically normal and 17.9% (12 had some abnormality. Aneuploidy was detected in 8 (66.7% cases, 3 (25% had double-segment imbalance, and one (8.3% had partial aneuploidy. Conclusion: We suggest that MLPA is a good substitute to traditional karyotype.

  20. 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

  1. 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

  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. The importance of age and smoking in evaluating adverse cytogenetic effects of exposure to environmental agents

    Energy Technology Data Exchange (ETDEWEB)

    Tucker, J.D. [Lawrence Livermore National Lab., CA (United States); Moore, D.H. II [California Pacific Medical Center, San Francisco, CA (United States). Cancer Research Institute

    1995-08-01

    Fluorescence in situ hybridization with chromosome-specific composite DNA probes (``chromosome painting``) is a reliable and efficient method for detecting structural chromosome aberrations. Painting is now being used to quantify chromosome damage in many human populations. In one such study we evaluated 91 unexposed people ranging in age from birth (cord bloods) to 79. We established a baseline frequency of stable aberrations that showed a highly significant curvi-linear increase with age (p < 0.00001) that accounted for 70% of the variance between donors. The magnitude of this effect illustrates the importance of understanding the cytogenetic changes that occur with age, which is particularly important for quantifying the effects of prior adverse environmental, occupational, or accidental exposure. In this paper we use the data obtained in our previous study to characterize the distribution of stable aberrations by age and pack-years of cigarette smoking. We also provide estimates of the number of cell equivalents that need to be scored to detect a given increase in aberrations above the background level surveyed in this population.

  4. 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.

  5. 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.

  6. Cytogenetic analysis of Astylus antis (Perty, 1830 (Coleoptera, Melyridae: Karyotype, heterochromatin and location of ribosomal genes

    Directory of Open Access Journals (Sweden)

    Ernani de Oliveira Mendes-Neto

    2010-01-01

    Full Text Available Cytogenetic analysis of Astylus antis using mitotic and meiotic cells was performed to characterize the haploid and diploid numbers, sex determination system, chromosome morphology, constitutive heterochromatin distribution pattern and chromosomes carrying nucleolus organizer regions (NORs. Analysis of spermatogonial metaphase cells revealed the diploid number 2n = 18, with mostly metacentric chromosomes. Metaphase I cells exhibited 2n = 8II+Xyp and a parachute configuration of the sex chromosomes. Spermatogonial metaphase cells submitted to C-banding showed the presence of small dots of constitutive heterochromatin in the centromeric regions of nearly all the autosomes and on the short arm of the X chromosome (Xp, as well as an additional band on one of the arms of pair 1. Mitotic cells submitted to double staining with base-specific fluorochromes (DAPI-CMA3 revealed no regions rich in A+T or G+C sequences. Analysis of spermatogonial mitotic cells after sequential Giemsa/AgNO3 staining did not reveal any specific mark on the chromosomes. Meiotic metaphase I cells stained with silver nitrate revealed a strong impregnation associated to the sex chromosomes, and in situ hybridization with an 18S rDNA probe showed ribosomal cistrons in an autosomal bivalent.

  7. 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.

  8. 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. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. Varieties of conventional implicature

    Directory of Open Access Journals (Sweden)

    Eric Scott McCready

    2010-07-01

    Full Text Available This paper provides a system capable of analyzing the combinatorics of a wide range of conventionally implicated and expressive constructions in natural language via an extension of Potts's (2005 L_CI logic for supplementary conventional implicatures. In particular, the system is capable of analyzing objects of mixed conventionally implicated/expressive and at-issue type, and objects with conventionally implicated or expressive meanings which provide the main content of their utterances. The logic is applied to a range of constructions and lexical items in several languages. doi:10.3765/sp.3.8 BibTeX info

  10. Cytogenetic and DNA barcoding reveals high divergence within the trahira, Hoplias malabaricus (Characiformes: Erythrinidae from the lower Amazon River

    Directory of Open Access Journals (Sweden)

    Diego Ferreira Marques

    Full Text Available Molecular and cytogenetic data have provided evidence of cryptic speciation in the widespread South American trahira, Hoplias malabaricus. In the present study, karyotypes and DNA barcode sequences of specimens from seven populations inhabiting the lower Amazon River were analyzed in order to characterize the levels of genetic divergence within a single karyomorph. All the specimens presented karyotypes with 2n = 40 chromosomes (20m+20sm that were consistent with the species' C karyomorph. The DNA barcodes revealed six haplogroups, with clear divergence between populations from Brazil and Argentina. The results support the species complex hypothesis and indicate that a single karyomorph of H. malabaricus may harbor more than one species

  11. Identification of a New Mullet Species Complex Based on an Integrative Molecular and Cytogenetic Investigation of Mugil hospes (Mugilidae: Mugiliformes

    Directory of Open Access Journals (Sweden)

    Mauro Nirchio

    2018-02-01

    Full Text Available Mullets are very common fishes included in the family Mugilidae, (Mugiliformes, which are characterized by both a remarkably uniform external morphology and internal anatomy. Recently, within this family, different species complexes were molecularly identified within Mugil, a genus which is characterized by lineages that sometimes show very different karyotypes. Here we report the results of cytogenetic and molecular analyses conducted on Mugil hospes, commonly known as the hospe mullet, from Ecuador. The study aims to verify whether the original described species from the Pacific Ocean corresponds to that identified in the Atlantic Ocean, and to identify species-specific chromosome markers that can add new comparative data about Mugilidae karyotype evolution. The karyotype of M. hospes from Ecuador is composed of 48 acrocentric chromosomes and shows two active nucleolar organizer regions (NORs. In situ hybridization, using different types of repetitive sequences (rDNAs, U1 snDNA, telomeric repeats as probes, identified species-specific chromosome markers that have been compared with those of other species of the genus Mugil. Cytochrome c oxidase subunit I (COI sequence analysis shows only 92–93% similarity with sequences previously deposited under this species name in GenBank, all of which were from the Atlantic Ocean. Phylogenetic reconstructions indicate the presence of three well-supported hospe mullet lineages whose molecular divergence is compatible with the presence of distinct species. Indeed, the first lineage includes samples from Ecuador, whereas the other two lineages include the Atlantic samples and correspond to M. brevirostris from Brazil and Mugil sp. R from Belize/Venezuela. Results here provided reiterate the pivotal importance of an integrative molecular and cytogenetic approach in the reconstruction of the relationships within Mugilidae.

  12. Cytogenetic evidence of mixed disomic and polysomic inheritance in an allotetraploid (AABB) Musa genotype

    Science.gov (United States)

    Jeridi, Mouna; Perrier, Xavier; Rodier-Goud, Marguerite; Ferchichi, Ali; D'Hont, Angélique; Bakry, Frédéric

    2012-01-01

    Background and Aims Edible bananas originated mainly from two wild species, Musa acuminata Colla (AA) and Musa balbisiana Colla (BB), and triploid cultivars with an AAA, AAB or ABB genome are the most widely used. In the present study, chromosome pairing affinities are investigated in a sterile AB Indian variety and in its fertile colchicine-induced allotetraploid (AABB) derivative to determine the inheritance pattern of the tetraploid genotype. The potential implications of interspecific recombination and chromosomal composition of diploid gametes for Musa improvement are presented. Methods The pairing of different chromosome sets at diploid and tetraploid levels was investigated through a combination of conventional cytogenetic and genomic in-situ hybridization (GISH) analyses of meiotic chromosomes, leading to a likelihood model of the pairing behaviour. GISH analysis of mitotic chromosomes was also conducted to reveal the chromosome constitution of hybrids derived from crosses involving the allotetraploid genotype. Key Results Analysis of chromosome associations at both ploidy levels suggested that the newly formed allotetraploid behaves as a ‘segmental allotetraploid’ with three chromosome sets in a tetrasomic pattern, three sets in a likely disomic pattern and the five remaining sets in an intermediate pattern. Balanced and unbalanced diploid gametes were detected in progenies, with the chromosome constitution appearing to be more homogenous in pollen than in ovules. Conclusions Colchicine-induced allotetraploids in Musa provide access to the genetic background of natural AB varieties. The segmental inheritance pattern exhibited by the AABB allotetraploid genotype implies chromosome exchanges between M. acuminata and M. balbisiana species and opens new horizons for reciprocal transfer of valuable alleles. PMID:23087127

  13. Karyotyping and cytogenetic mapping of Atlantic cod (Gadus morhua Linnaeus, 1758).

    Science.gov (United States)

    Ghigliotti, L; Fevolden, S-E; Cheng, C-H C; Babiak, I; Dettai, A; Pisano, E

    2012-12-01

    The Atlantic cod (Gadus morhua) is an important natural resource for northern societies and is now also considered to be a promising candidate for aquaculture. In recent years, much effort has been directed towards the development of genomic tools, and genome initiatives for Atlantic cod have been established. Despite the growing attention devoted to the Atlantic cod genomics, basic aspects of its genome structure and organization remain unknown. Thus, the present work aims to study cytogenetic features of the Atlantic cod as a contribution to the knowledge of this species' genome. The Atlantic cod displays a diploid number of 46 chromosomes, with a karyotypic formula 16 m/sm + 30 st/t. Conventional karyotyping was improved by chromosomal mapping of two classes of repetitive sequences. 18S rDNA clusters were assigned to pairs 2 and 4; small amounts of 18S rDNA clusters were occasionally detected on pair 5. These findings could not be related to the geographical origin of the specimens, but were consistent with the variability of these repeated genes in fish in general. 5S ribosomal gene clusters, apparently corresponding to a single 5S rDNA class, were detected on twelve chromosomes (pairs 11, 12, 14, 17, 20 and 21). The present update of the existing but meagre information on the karyotype of Atlantic cod, plus the first physical mapping of repetitive genes in this species herein, opens the way for an integrated approach that combines genetic and physical mapping with the assembly of the genome of this commercially important species. © 2012 The Authors, Animal Genetics © 2012 Stichting International Foundation for Animal Genetics.

  14. 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.

  15. Cytogenetic study in workers occupationally exposed to mercury fulminate.

    Science.gov (United States)

    Anwar, W A; Gabal, M S

    1991-05-01

    This study was conducted to evaluate the cytogenetic effects in male workers exposed to mercury fulminate. A total of 29 male workers and 29 age- and sex-matched controls were examined. The mean mercury level in urine from the exposed workers was 123.2 +/- 54.1 micrograms/l compared with 39.2 +/- 11.1 micrograms/l in the control group. The difference was statistically significant (P less than 0.001). Metaphase chromosomes were studied. Micronucleated peripheral blood lymphocytes were also analyzed in cytochalasin B blocked binucleated lymphocytes. The percentage of metaphases with chromosomal aberrations was significantly higher (P less than 0.001) in the exposed group (6.1 +/- 2.3) compared to the control group (2.8 +/- 0.7). The chromosomal aberrations detected were in the form of gaps, breaks and fragments. A significant increase in the incidence of micronucleated lymphocytes was found among the exposed group (7.1 +/- 4.2) compared to the control group (5.4 +/- 2.2) (P less than 0.01). The detected chromosomal damage correlated neither with the duration of exposure nor with the urinary mercury level.

  16. [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

    Science.gov (United States)

    Kunze, J; Tolksdorf, M; Wiedemann, H R

    1975-01-01

    We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal. Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatides demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the hetero-chromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we did not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained. Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

  17. [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.

  18. 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 serv...

  19. 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

  20. Diagnostic and prognostic significance of cytogenetics in adult primary myelodysplastic syndromes.

    Science.gov (United States)

    Jotterand, M; Parlier, V

    1996-10-01

    Cytogenetic analysis has proven to be a mandatory part of the diagnosis of myelodysplastic syndromes (MDS) as well as a major indicator for predicting clinical course and outcome. This review concentrates on the cytogenetic classifications, the incidence and types of chromosome defects and the prognostic significance of the karyotype in adult primary MDS. Two cytogenetic classifications are currently used: one is based on the karyotype complexity (normal, single, double or complex defects), the other on clonal status (all metaphases normal, abnormal or admixture of normal and abnormal clones). Chromosome abnormalities are of both numerical and structural types. Aside from the 5q-syndrome, no specific clinico-cytogenetic entity has been reported. However, several distinct clinical and cellular features have been identified that correlate with the presence of specific chromosome defects such as inv(3)/t(3;3), +6, t(5;12), del(17p) and del(20q). The presence of complex defects is associated with reduced survival and a high risk of leukemic transformation. Among single defects, specific abnormalities may define distinct prognostic groups. Patients with del(5q) as a sole chromosome defect and a refractory anemia without excess of blasts have a favourable prognosis. For patients with trisomy 8 or monosomy 7 there may be distinct types of clinical evolution. Most patients with the 3q21q26 syndrome have a short survival. The presence of two chromosome defects may constitute an independent cytogenetic entity probably associated with relative poor prognosis. Karyotypic evolution generally represents a poor risk factor. The combination of cytogenetics with clinical and hematological features has proven to provide for a better prediction of patients' survival, leukemic transformation and response to treatment. Several scoring systems have been developed. They have to be improved by the study of new patients according to strict clinical and cytogenetic criteria and by the

  1. Molecular genetic and cytogenetic determinants of primary resistance or loss of the response to treatment with tyrosine kinase inhibitors in patients with chronic myeloid leukemia.

    Directory of Open Access Journals (Sweden)

    Kotlyarchuk K.

    2015-09-01

    Full Text Available Aim of this study was to analyze molecular genetic and cytogenetic reasons for disease resistance to tyrosine kinase inhibitors (TKI imatinib (IM and nilotinib (NI in patients with chronic myeloid leukemia (CML. Material and methods. A group of 32 CML patients with primary or acquired resistance to TKI treatment was investigated. Cytogenetic response was determined by conventional karyotyping with differential banding. Presence of BCR-ABL kinase domain mutations was investigated by direct sequencing. Results and discussion. The frequency of mutations was 37% (12 patients with prevailing occurrence of mutations with low sensitivity to nilotinib – E255K/V; Т315I; F359V; Y253H. In 47% of the cases (15 patients additional chromosome aberrations (ACA were revealed which could also be the reason for TKI resistance in patients without BCR/ABL mutations. Patients with detected mutations of BCR/ABL gene were either switched to nilotinib or treated with increased dose of IM. Cytogenetic response was achieved in only 2 patients with mutations and in 12 patients without them. Frequency of blast crisis development did not differ significantly in both groups. Conclusions. Among the investigated patients with CML resistant to IM BCR/ABL gene mutations were detected in more than third of the cases whereas ACA were found in almost half of the group. Taking into account revealed prevalence of mutations not sensitive to the 2nd generation TKI nilotinib, investigation of mutational status has to be obligatory in all patients for whom treatment correction is considered. Presence of ACA should also be taken into account in patients requiring administration of the second line TKI since they can adversely influence expected treatment response as well.

  2. Minamata Convention on Mercury

    Science.gov (United States)

    On November 6, 2013 the United States signed the Minamata Convention on Mercury, a new multilateral environmental agreement that addresses specific human activities which are contributing to widespread mercury pollution

  3. 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

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

    Science.gov (United States)

    Jouyan, Najmeh; Davoudi Dehaghani, Elham; Senemar, Sara; Shojaee, Ashraf; Mozdarani, Hossein

    2012-03-01

    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. This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study. 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). 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. 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.

  5. 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. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  6. 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.

  7. Cytogenetic analysis in the spermatogenesis of Triatoma melanosoma (Reduviidae; Heteroptera).

    Science.gov (United States)

    Bardella, V B; Azeredo-Oliveira, M T V; Tartarotti, E

    2008-04-15

    Triatomines are of great concern in public health because they are vectors of Chagas' disease. This study presents an analysis of the species Triatoma melanosoma. The cytogenetic characteristics of triatomines include holocentric chromosomes, post-reductional meiosis in the sex chromosomes and nucleolar fragmentation in the meiotic cycle. The methodology utilized consisted of the techniques of lacto-acetic orcein staining and silver ion impregnation. The organs analyzed were adult testicles. The results enabled to classify the chromosomes by number and size, being three large, eight medium and one small heterochromosome. The three largest chromosomes and the heterochromosomes showed heteropyknotic chromatin in meiosis. The heterochromosomes in 8.05% of the cells in metaphase I behaved as pseudobivalents, contrasting with 91.95% of the cells with individualized sex chromosomes, confirming the achiasmatic nature of these chromosomes. However, the pseudobivalents occurred prominently in metaphase II (78.38%), this fact probably is related to the post-reductional nature of the sex chromosomes. The nucleolus in T. melanosoma persisted until the diplotene phase after which it began to fragment. Nucleolar corpuscles were observed in metaphases I and II and during anaphases I and II, these characteristics being related to the phenomenon of nucleolar persistence. In the initial spermatids, peripheral silver ion impregnation occurred, which could be analogous to the pre-nucleolar corpuscles observed after fragmentation. Thus, this study extends our knowledge of the characteristics of triatomines, in particular, heteropyknotic degree, kinetic activity, formation of sex chromosome achiasmatic pseudobivalency, confirmation of the fragmentation phenomenon, and post-meiotic nucleolar reactivation.

  8. CYTOGENETIC STUDIES ON SEVERAL HIPPOPHAƠ RHAMNOIDES L. GENOTYPES

    Directory of Open Access Journals (Sweden)

    Diana-Elena Maftei

    2012-06-01

    Full Text Available Sea-buckthorn (Hippophaë rhamnoides (2n=24 is a dioecious plant with a very obvious morpho-physiological polymorphism. This species is one of the most valuable fruit-bearing shrubs of the spontaneous and also of the cultivated flora, due to its content of biologically active substances of its leaves, fruit and shoots. The research has been accomplished on root apical meristems from germinated seeds that belong to four genotypes characteristic for Bacău county - Dospineúti, ùerpeni 11, ùerbăneúti 4, Sfiútofca 18, and to one genotype of the Danube Delta - Sfântul Gheorghe 5. Cytogenetical studies evinced that the mitotic index (MI was high, and it varied with the genotype. The highest MI was evinced in the ùerbăneúti 4 genotype (53.13, and the lowest – in ùerpeni 11 (40.08. Cell distribution per mitotic phases is approximately the same, the highest percentage was represented by cells in prophase, followed by metaphases, telophases and anaphases. There is a rather high frequency and a quite large spectrum of  chromosomal aberrations identified in this species (with variations due to the 5 different genotypes. Of all the chromosomal aberrations evinced during the ana-telophases of mitotic root apical meristems (bridges, delayed chromosomes, expelled chromosomes, fragments, micronuclei, the highest frequency was represented by ana-telophases with bridges. There has been noticed the presence of chromosomal abnormalities in metaphasic and prophasic cells.

  9. Cytogenetics of two species of Euceraphis (Homoptera, Aphididae).

    Science.gov (United States)

    Blackman, R L

    1976-07-30

    Somatic cell divisions, spermatogenesis, and the prophase stages of primary oocytes, are described for two species of birch aphid, Euceraphis betulae (Koch) and E. punctipennis (Zettersted). Females of E. betulae have two autosome pairs, two pairs of X-chromosomes of different lengths, and two B-chromosomes. Females of E. punctipennis have the same number of X-chromosomes. The sex determination system is X1X2O. E. punctipennis males sometimes have only one B-chromosome. In the spermatogenesis of E. Betulae, pairing of homologous autosomes occurs in early prophase I, but no evidence was found of chiasmata or end-to-end alignment of homologues. Instead, homologues remain closely aligned in parallel as they condense into metaphase, and anaphase I separates the products of pairing in a strictly reductional manner. The two unpaired X-chromosomes and both B-chromosomes are stretched on the anaphase I spindle and all four pass into the larger secondary spermatocyte. The second division is equational. The B-chromosomes thus show accumulation in spermatogenesis, which must be compensated in some way by an elimination mechanism in oogenesis. Meiosis of E. punctipennis is highly anomalous. The two autosomes pair but separate again in early prophase I, then one homologue becomes heterchromatic and is apparently rejected from the late prophase nucleus. A single, equational maturation division follows. In female neiosis I, both species show highly characteristic diplotene figures with multiple chiasmata, the B-chromosomes remaining unpaired. These results are discussed in relation to previous work on aphid cytogenetics.

  10. 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.

  11. 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...

  12. Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

    Directory of Open Access Journals (Sweden)

    Rongen Michel A

    2009-07-01

    Full Text Available Abstract Background Complex chromosomal rearrangements (CCR are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genotyping is necessary in order to identify cryptic imbalances, for instance near the multiple breakpoints, to explain the abnormal phenotype in these patients. We applied several molecular techniques to elucidate the complexity of the CCRs of two adult patients with abnormal phenotypes. Results Multicolour fluorescence in situ hybridization (M-FISH showed that in patient 1 the chromosomes 1, 10, 15 and 18 were involved in the rearrangement whereas for patient 2 the chromosomes 5, 9, 11 and 13 were involved. A 250 k Nsp1 SNP-array analysis uncovered a deletion in chromosome region 10p13 for patient 1, harbouring 17 genes, while patient 2 showed no pathogenic gains or losses. Additional FISH analysis with locus specific BAC-probes was performed, leading to the identification of cryptic interstitial structural rearrangements in both patients. Conclusion Application of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail. However, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR.

  13. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    Science.gov (United States)

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.

    Science.gov (United States)

    Rochowski, Andrzej; Olson, Susan B; Alonzo, Todd A; Gerbing, Robert B; Lange, Beverly J; Alter, Blanche P

    2012-11-01

    Specific cytogenetic clones might distinguish patients with unrecognized Fanconi anemia (FA) who present with acute myeloid leukemia (AML) from those with sporadic AML. Cytogenetic reports in literature cases of FA and AML were compared with de novo cases enrolled on CCG-2961. Gain of 1q, gain of 3q, monosomy 7, deleted 7q, gain of 13q, and deleted 20q were more frequent in FA AML; t(8;21), trisomy 8, t(9;11), t(6;9), and inversion 16 were exclusive to de novo AML cases. Observation of the FA AML cytogenetic clonal patterns should raise suspicion of an underlying leukemia predisposition syndrome and influence management. Copyright © 2012 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

  15. Comparative cytogenetic and morphological analysis of Astyanax scabripinnis paranae (Pisces, Characidae, Tetragonopterinae

    Directory of Open Access Journals (Sweden)

    Maistro Edson Luis

    1998-01-01

    Full Text Available Cytogenetic and morphological studies were carried out on nine local populations of Astyanax scabripinnis paranae. All populations exhibited 2n = 50 chromosomes as well as conspicuous differences involving karyotype morphology, number and position of nucleolar organizer regions (NORs and amount and/or locations of constitutive heterochromatin blocks. A quantitative study of the cytogenetic data showed that eight populations possessed different karyotypes. Morphological analyses based on nine measurements and two meristic parameters were effective in establishing clear identification of five populations. Comparative analysis of cytogenetic and morphological traits suggests that chromosomal changes have occurred at a more rapid rate than morphological differentiation. Despite the close morphological similarity found among some populations, chromosomal differentiation was identified in all of them, even in those presenting only small morphological differences.

  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. How cytogenetical methods help victims prove radiation exposure and claim right for social support: NCERM experience

    Energy Technology Data Exchange (ETDEWEB)

    Aleksanin, S., E-mail: Aleksanin@arcerm.spb.ru [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation); Slozina, N., E-mail: NataliaSlozina@peterlink.ru [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation); Neronova, E.; Smoliakov, E. [Nikiforov Russian Center of Emergency and Radiation Medicine EMERCOM of Russia, (NRCERM) ul. Akademika Lebedeva 4/2, 194044 St. Petersburg (Russian Federation)

    2011-09-15

    Russian citizens who were irradiated because of radiation disasters, nuclear weapons testing and some other sources have a right to some social support and financial compensation. In order to get this compensation people have to prove that they were irradiated. As it is, not all victims for a variety of reasons have formal documents. Thus they apply for cytogenetic investigation to prove irradiation months, years and even decades after irradiation. Since 1992 the cytogenetic investigations related to radiation exposure were performed in NRCERM for more than 700 people. At the beginning of this investigation FISH method was not certified as a biodosimenty test in Russia. Only dicentric analysis was approved as a proof of irradiation. It is known that the rate of dicentrics decrease in time, but the residual level of cytogenetical markers could be revealed a long time after a radiation accident. Thus the dicentric analysis was performed for the people who applied for biological indication of radiation exposure at that time. Rates of dicentrics exceeding control levels were revealed in half the people who applied for radiation conformation. Now FISH method is certified in Russia and both cytogenetic tests of biodosimetry (dicentrics and FISH) are available for all comers. Increased levels of translocations were found in 8 cases (the dose rate from 0.16 to 0.64 Gy). On the basis of the results of cytogenetic tests official documents were supplied to these people and they were entitled to apply for radiation exposure compensation. Thus cytogenetic tests are very effective and in some cases the only possible way for the victims to prove irradiation exposure and to apply for radiation exposure compensation a long time after an accident.

  18. 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.

  19. Cytogenetic and molecular markers reveal the complexity of the genus Piabina Reinhardt, 1867 (Characiformes: Characidae

    Directory of Open Access Journals (Sweden)

    Marlon Felix Pazian

    Full Text Available Cytogenetic and molecular analyses were carried out in fish representative of the genus Piabina. This study specifically involved the species P. argentea and P. anhembi collected from areas of the Paranapanema and Tietê River basins, Brazil. Our findings suggest that fish classified as Piabina argentea in the Paranapanema and Tietê Rivers may represent more than one species. The samples analyzed differed by cytogenetic particularities and molecular analyses using partial sequences of the genes COI and CytB as genetic markers revealed three distinct groups of P. argentea with genetic distances sufficient to support the conclusion that the three samples analyzed are three distinct taxonomic units.

  20. 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.

  1. EEI convention report

    Energy Technology Data Exchange (ETDEWEB)

    1961-07-01

    Highlights of papers given at Edison Electric Institute's annual convention, June 1961, are presented. James F. Young reported on research and future power transmission trends, and he predicted 700 kV will be used in the U.S. by 1975.

  2. Conventional Spinal Anaesthesia

    African Journals Online (AJOL)

    Blood pressure, heart rate, respiratory rate and oxygen saturation were monitored over 1hour. RESULTS: Three ... Patients in the conventional group had statistically significant greater fall in the systolic blood pressures at 15, 30 and 45 ..... cardiovascular homeostasis during spinal anaesthesia, unilateral spinal anaesthesia ...

  3. Comparative cytogenetics of two endangered leuciscine fish, Squalius aradensis and S. torgalensis (Teleostei, Cyprinidae, from the Iberian Peninsula

    Directory of Open Access Journals (Sweden)

    Catarina Nabais

    2013-03-01

    Full Text Available In this study, the description of the karyotypes of the endangered chubs Squalius aradensis (Coelho, Bogutskaya, Rodrigues and Collares-Pereira, 1998 and Squalius torgalensis (Coelho, Bogutskaya, Rodrigues and Collares-Pereira, 1998 is presented by means of conventional (Giemsa-staining, Chromomycin A3 (CMA3-fluorescence, Silver-impregnation (Ag-NORs and molecular (fluorescence in situ hybridization (FISH with 18S rDNA probe protocols. These endemic sister-species have an allopatric but adjacent distribution in the most southwestern part of the Iberian Peninsula. Diploid chromosome number was invariably 2n = 50 and karyotypes of both species were grossly similar, composed of metacentric and submetacentric elements with a reduced number of acrocentric pairs. Sequential staining using FISH with an 18S rDNA probe, CMA3 and Ag-NORs treatments revealed consistent positive signals located at the end of the short arms of a submetacentric chromosome pair, likely homologous in both species. While providing useful cytogenetic comparative data against other members of the genus Squalius Bonaparte, 1837, the work aimed to draw attention towards the conservation of two narrow-range and highly confined fish species.

  4. Comparative cytogenetics of two endangered leuciscine fish, Squalius aradensis and S. torgalensis (Teleostei, Cyprinidae), from the Iberian Peninsula

    Science.gov (United States)

    Nabais, Catarina; Rampin, Massimiliano; Collares-Pereira, Maria João

    2013-01-01

    Abstract In this study, the description of the karyotypes of the endangered chubs Squalius aradensis (Coelho, Bogutskaya, Rodrigues and Collares-Pereira, 1998) and Squalius torgalensis (Coelho, Bogutskaya, Rodrigues and Collares-Pereira, 1998) is presented by means of conventional (Giemsa-staining, Chromomycin A3 (CMA3)-fluorescence, Silver-impregnation (Ag-NORs)) and molecular (fluorescence in situ hybridization (FISH) with 18S rDNA probe) protocols. These endemic sister-species have an allopatric but adjacent distribution in the most southwestern part of the Iberian Peninsula. Diploid chromosome number was invariably 2n = 50 and karyotypes of both species were grossly similar, composed of metacentric and submetacentric elements with a reduced number of acrocentric pairs. Sequential staining using FISH with an 18S rDNA probe, CMA3 and Ag-NORs treatments revealed consistent positive signals located at the end of the short arms of a submetacentric chromosome pair, likely homologous in both species. While providing useful cytogenetic comparative data against other members of the genus Squalius Bonaparte, 1837, the work aimed to draw attention towards the conservation of two narrow-range and highly confined fish species. PMID:24260688

  5. 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

  6. The Hsp60C gene in the 25F cytogenetic region in Drosophila ...

    Indian Academy of Sciences (India)

    Unknown

    1987). Another gene, located at 21D cytogenetic region, and whose putative product displayed properties of the Hsp60 family, was named Hsp60B and this gene was found to have a male germ-cell specific function, especially in the ...... cheal tube size control and proper functioning of the sep- tate junctions (Beitel et al.

  7. In vivo cytogenetic effects of 2-trans hexenal on somatic and germ ...

    African Journals Online (AJOL)

    The in vivo cytogenetic effects of 2-trans hexenal were evaluated by investigating chromosomal aberrations and sperm head abnormalities in the bone marrow cells of laboratory bred Swiss albino mice. Single intraperitoneal injections of 8, 16 or 32 ìl per kg bodyweight resulted in dose-dependent decreases in the mitotic ...

  8. 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.

  9. 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

  10. 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)

  11. A cytogenetic methodology to evaluate in vitro the G2-chromosomal ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 88; Issue 3. A cytogenetic methodology to evaluate in vitro the G2-chromosomal radiosensitization induced by chemicals at non-clastogenic doses. V. I. Hatzi Georgia I. Terzoudi Vasilios Makropoulos Gabriel E. Pantelias. Research Note Volume 88 Issue 3 December 2009 pp ...

  12. Cytogenetic abnormalities in tumors of patients with von Hippel-Lindau disease.

    Science.gov (United States)

    Jordan, D K; Patil, S R; Divelbiss, J E; Vemuganti, S; Headley, C; Waziri, M H; Gurll, N J

    1989-10-15

    Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that causes the development of benign and malignant tumors in several organ systems. Tumors causing significant morbidity include retinal angioma, cerebellar hemangioblastoma (CH), renal cell carcinoma (RCC), and pheochromocytoma (Pheo). Cytogenetic studies of tumors in VHL patients are rare. Cytogenetic findings in tumors from 12 patients with VHL disease, including four RCCs, three CHs, and five Pheos are presented. Three of the four RCC cases were abnormal. Monosomy 3 or a deletion of 3p was present in all three abnormal cases. Complete or partial trisomy of chromosome 5 was present in two cases. A deletion of 14q, trisomy 7, and a missing Y were each observed in one case. These findings indicate that a deletion of 3p may be a primary cytogenetic change in RCCs associated with VHL disease in addition to playing a role in sporadic RCC. Duplications of 5q and deletions of 14q may be important secondary changes in the progression of the malignant phenotype. No visible cytogenetic abnormalities were observed in the three CHs, or in four of the Pheos. One of the five Pheos was found to exhibit mosaic trisomy 7; its significance is unclear at the present time.

  13. [The significance of cytogenetic investigation for the estimation of Chernobyl accident consequences].

    Science.gov (United States)

    Shevchenko, V A; Snigireva, G P

    2006-01-01

    The results of the cytogenetic investigation of people, which were exposed to radiation in the result of the Chernobyl NPP accident, were presented. Also the possibilities of the application of cytogenetic findings for dose estimations and for the prediction of the radiation influence consequences were examined. During the period of time since 1986 till 2004 the cytogenetic investigations of 1724 liquidators participating in the liquidation works after the Chernobyl accident were carried out. The radiation dose estimated by the frequency of dicentrics in 1986 was about 0.16 Gy. The doses for liquidators were determined by the frequency of translocations (FISH method) during the period from 1992 till 1995. For liquidators who worked in Chernobyl only in 1986 the average dose of radiation was about 0.19 Gy and for liquidators who worked repeatedly during the period from 1986 till 1995 - 0.39 Gy. There was shown that during the whole period of investigation (1986-2004) the frequency of dicentrics in peripheral blood lymphocytes was significantly higher than the control level. The cytogenetic investigation of Bryansk region inhabitants which was carried out in 1992-1994 discovered heightened value in 5 times than the control one. Findings are of great importance for the prediction of ill effects of radiation and for the development of sensitive criterions for early exposure disturbances in state of health.

  14. 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 .

  15. 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

  16. On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia.

    Science.gov (United States)

    Sessarego, M; Bianchi Scarrà, G; Giuntini, P; Ajmar, F

    1983-01-01

    Cytogenetic study in a case of acute myelogenous leukemia revealed the presence of two identical dicentric marker chromosomes derived from an X with Xq13 breakpoints. Clinical and cytochemical findings suggest that the patient was affected by idiopathic acquired sideroblastic anemia before the acute leukemia.

  17. 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...

  18. Xp11.2 translocation renal cell carcinoma diagnosed by immunohistochemistry and cytogenetics

    Directory of Open Access Journals (Sweden)

    Biswajit Dey

    2016-01-01

    Full Text Available Xp11.2 translocation renal cell carcinomas (TRCCs are a group of neoplasms with distinct clinical, histopathological appearance, immunohistochemical, and cytogenetic profile. We report a case of Xp11.2 translocation TRCC in an 11-year-old male diagnosed based on immunohistochemistry and fluorescence in situ hybridization.

  19. A 3-year cytogenetic survey of 9661 patients in South Africa | Retief ...

    African Journals Online (AJOL)

    During the period 1 January 1977 - 31 December 1979,. 9 661 patients underwent cytogenetic investigation at seven participating laboratories in South Africa. The chromosome data were coded using a standard protocol and the results tabulated, being listed according to the clinical signs which led to referral for ...

  20. 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...

  1. 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

  2. Cytogenetic analysis of a case of myxoid liposarcoma with cartilaginous differentiation

    NARCIS (Netherlands)

    Dijkhuizen, T; Molenaar, WM; Hoekstra, HJ; Wiersema, J; vandenBerg, E

    1996-01-01

    The cytogenetic analysis of a patient with a myxoid liposarcoma exhibiting cartilaginous differentiation is presented. A complex translocation involving chromosome 12, 16, and 19 was found, instead of the t(12;16), specific for myxoid liposarcoma. The involvement of 19q13 in a tumor with

  3. Cytogenetic profiles of 2806 patients with acute myeloid leukemia-a retrospective multicenter nationwide study.

    Science.gov (United States)

    Byun, Ja Min; Kim, Young Jin; Yoon, Hwi-Joong; Kim, Si-Young; Kim, Hee-Je; Yoon, Jaeho; Min, Yoo Hong; Cheong, Jun-Won; Park, Jinny; Lee, Jae Hoon; Hong, Dae Sik; Park, Seong Kyu; Kim, Hyeoung-Joon; Ahn, Jae-Sook; Shin, Ho-Jin; Chung, Joo Seop; Lee, Won Sik; Lee, Sang Min; Park, Yong; Kim, Byung Soo; Lee, Je-Hwan; Lee, Kyoo-Hyung; Jung, Chul Won; Jang, Jun Ho; Min, Woo-Sung; Park, Tae Sung

    2016-08-01

    The cytogenetic and molecular data is recognized as the most valuable prognostic factor in acute myeloid leukemia (AML). Our aim was to systemically analyze the cytogenetics of Korean AML patients and to compare the cytogenetic profiles of various races to identify possible geographic heterogeneity. We retrospectively reviewed medical records of 2806 AML patients diagnosed at 11 tertiary teaching hospitals in Korea between January 2007 and December 2011. The most common recurrent chromosomal abnormality was t(8;21) (8.8 %, 238/2717), but t(15;17) showed an almost same number (8.6 %,235/2717). Among de novo AML, the most frequent aberrations were t(15;17), observed in 229 (10.7 %). The most common French-American-British (FAB) classification type was M2 (32.2 %), and recurrent cytogenetic abnormalities correlated with the FAB subtypes. Among 283 secondary AML cases, myelodysplastic syndrome was the most common predisposing factor. About 67.1 % of the secondary AML cases were associated with chromosomal aberrations, and chromosome 7 abnormalities (n = 45, 15.9 %) were most common. The incidence of FLT3 internal tandem duplication mutation was relatively low at 15 %. Our study reports certain similarities and differences in comparison to previous reports. Such discrepancies call for extensive epidemiological studies to clarify the role of genetic as well as geographic heterogeneity in the pathogenesis of AML.

  4. 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

  5. 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.

  6. Three Unusual but Cytogenetically Similar Cases With up to Five Different Cell Lines Involving Structural and Numerical Abnormalities of Chromosome 18

    Science.gov (United States)

    Carreira, Isabel M.; Mascarenhas, Alexandra; Matoso, Eunice; Couceiro, Ana B.; Ramos, Lina; Dufke, Andreas; Mazauric, Marie; Stressig, Rüdiger; Kosyakova, Nadezda; Melo, Joana B.; Liehr, Thomas

    2007-01-01

    We report two prenatal and two postnatal diagnosed cases (the latter monozygotic twins) with ring chromosomes after GTG banding. All four, de novo r(18), cases turned out to be more complex after application of high-resolution molecular cytogenetics techniques such as use of fluorescence in situ hybridization, centromeric probes, multicolor banding, and locus-specific probes for chromosome 18. All four cases are mosaics involving chromosome 18 in up to five different cell lines, including 46,r(18); 46,dr(18); 47,r(18)x2; 46,mar(18); and 45,-18. Mosaicism sharing both numerical and structural anomalies is rare, but rings often appear as mosaics due to their mitotic instability. Overall, patients with ring chromosome 18 usually share clinical features of 18q- syndrome and, less frequently, those of 18p- syndrome. High-resolution molecular cytogenetics techniques were useful in the characterization of cases with dynamic mosaicism and in establishing the relationship between loss or gain of chromosomal material and the phenotype. PMID:17595336

  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. Strategic interaction and conventions

    Directory of Open Access Journals (Sweden)

    Espinosa, María Paz

    2012-03-01

    Full Text Available The scope of the paper is to review the literature that employs coordination games to study social norms and conventions from the viewpoint of game theory and cognitive psychology. We claim that those two alternative approaches are in fact complementary, as they provide different insights to explain how people converge to a unique system of self-fulfilling expectations in presence of multiple, equally viable, conventions. While game theory explains the emergence of conventions relying on efficiency and risk considerations, the psychological view is more concerned with frame and labeling effects. The interaction between these alternative (and, sometimes, competing effects leads to the result that coordination failures may well occur and, even when coordination takes place, there is no guarantee that the convention eventually established will be the most efficient.

    El objetivo de este artículo es presentar la literatura que emplea los juegos de coordinación para el estudio de normas y convenciones sociales, que se han analizado tanto desde el punto de vista de la teoría de juegos como de la psicología cognitiva. Argumentamos en este trabajo que estos dos enfoques alternativos son en realidad complementarios, dado que ambos contribuyen al entendimiento de los procesos mediante los cuales las personas llegan a coordinarse en un único sistema de expectativas autorrealizadas, en presencia de múltiples convenciones todas ellas igualmente viables. Mientras que la teoría de juegos explica la aparición de convenciones basándose en argumentos de eficiencia y comportamientos frente al riesgo, el enfoque de la psicología cognitiva utiliza en mayor medida consideraciones referidas al entorno y naturaleza de las decisiones. La interacción entre estos efectos diferentes (y en ocasiones, rivales desemboca con frecuencia en fallos de coordinación y, aun cuando la coordinación se produce, no hay garantía de que la convención en vigor sea la m

  9. Minamata Convention on Mercury. Reporting obligations of the Parties to the Convention and the sources of data existing in Poland

    Science.gov (United States)

    Strzelecka-Jastrząb, Ewa

    2018-01-01

    After that, when more than 60 years ago in the Japanese city of Minamata there was caused a mass poisoning of residents by seafood contaminated with mercury, Minamata Convention on Mercury came into force on August 16, 2017. To date, the Convention has been signed by 128 States, the signatories of the Convention and ratified by 83 States - Parties to the Convention. The Convention imposes a number of obligations on the Parties to the Convention, including the reporting obligation. The paper analyses the reporting obligations of the Parties to the Convention, which are in force after the entry into force of the Convention, pursuant to the provisions contained therein. In addition, the existing sources of quantitative data on mercury in Poland are characterized.

  10. Conventions and Institutional Logics

    DEFF Research Database (Denmark)

    Westenholz, Ann

    Two theoretical approaches – Conventions and Institutional Logics – are brought together and the similarities and differences between the two are explored. It is not the intention to combine the approaches, but I would like to open both ‘boxes’ and make them available to each other with the purpose...... of creating a space for dialog. Both approaches were developed in the mid-1980s as a reaction to rational-choice economic theory and collectivistic sociological theory. These two theories were oversimplifying social life as being founded either in actor-micro level analyses or in structure-macro level...... by overcoming traditional micro-macro and actor-structure dimensions. However, they have also achieved this in different ways and I ask if there is a benefit to ‘importing’ some of these differences into the other approach....

  11. Factors associated with achievement and durability of cytogenetic response in patients with chronic myeloid leukemia treated with imatinib

    Directory of Open Access Journals (Sweden)

    Ćojbašić Irena

    2011-01-01

    Full Text Available Background/Aim. Imatinib mesylate, a selective Bcr-Abl tyrosine kinase inhibitor, has revolutionized the treatment of Bcr-Abl positive chronic myeloid leukemia and become the standard of care for this disease. The aim of this study was evaluation and analysis of cytogenetic response in different intervals and risk groups as well as finding association between pre-treatment characteristics and later probability of achievement of major cytogenetic response. Methods. We analyzed a total of 22 adult patients with newly diagnosed Philadelphia positive early chronic phase chronic myeloid leukemia treated at our institution from June 2006 to December 2009. Results. The median follow-up time for patients during treatment with imatinib was 25.7 months (range, 12-42 months. A complete hematologic response was achieved in all of the analyzed patients within 6 months from the start of the treatment. The major cytogenetic response rate was 81.8%, and the complete cytogenetic response rate was 72.7%. The patients with low or moderate relative risk had the rate of complementary achieving major and complete cytogenetic response of 75-90%. A multivariate analysis identified the following independent prognostic factors for achieving major cytogenetic response: the absence of splenomegaly, white blood cell count less than 10 × 109/L, the platelet count less than 450 × 109/L, the presence of less than 5% of bone marrow blasts and basophils, the absence of blasts in peripheral blood, the presence of less than 7% of basophils in peripheral blood. Conclusion. Patients who early achieve complete and major cytogenetic response as well as those with low and moderate relative risk have a higher rate of achieving and maintaining complete cytogenetic response. There are also characteristics of patients before treatment that may indicate the treatment outcome.

  12. Rare cytogenetic abnormalities and alteration of microRNAs in acute myeloid leukemia and response to therapy

    OpenAIRE

    Mohammad Shahjahani; Elham Khodadi; Mohammad Seghatoleslami; Javad Mohammadi Asl; Neda Golchin; Zeynab Deris Zaieri; Najmaldin Saki

    2015-01-01

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to...

  13. 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.

  14. Cytogenetic and molecular characterization of intergeneric hybrids between Brassica napus and Orychophragmus violaceus.

    Science.gov (United States)

    Cheng, B F; Séguin-Swartz, G; Somers, D J

    2002-02-01

    Twenty-two intergeneric hybrids from a cross between Brassica napus (AACC, 2n = 38) cultivar Oro and the ornamental crucifer Orychophragmus violaceus (OO, 2n = 24) were produced without embryo rescue. The plants were classified into three groups based on morphological and cytological observations and RAPD banding patterns. Plants of Group I had morphological traits of both parents and 2n = 29 chromosomes. In these plants, 62.1% of the pollen mother cells (PMCs) had the pairing configuration 1 III + 9 II + 8 I; the remaining PMCs had 10 II + 9 I. The plants possessed 97.6-98.8% B. napus specific and 9.2-11.7% O. violaceus specific RAPD fragments. Plants of Group II exhibited novel morphological traits and possessed 2n = 35, 36, or 37 chromosomes. Plants of Group III were morphologically similar to B. napus and possessed 2n = 19, 37, 38, or 39 chromosomes. Plants of Group II and Group III had 94.1-99.4% B. napus specific RAPD fragments and no O. violaceus specific RAPD fragments. Chromosome fragments were observed in PMCs of most of the F1 plants in all groups. Based on the cytological results and RAPD analysis, it is suggested that genome doubling and chromosome elimination occurred in the intergeneric hybrids of B. napus x O. violaceus.

  15. Molecular and cytogenetic characterization of repetitive DNA in the Antarctic polyplacophoran Nuttallochiton mirandus.

    Science.gov (United States)

    Biscotti, Maria Assunta; Barucca, Marco; Capriglione, Teresa; Odierna, Gaetano; Olmo, Ettore; Canapa, Adriana

    2008-01-01

    Two highly repeated DNAs, designated NmE1/NmE2 and NmE5, were identified by EcoRV digestion in the chiton Nuttallochiton mirandus (Mollusca: Polyplacophora). The comparison of the sequences obtained showed high similarity in 5' and 3' regions and the NmE5 sequence displayed an inserted sequence that might arise from a transposable element. Southern blotting analyses suggested a tandem organization of both satellite DNA families identified. Moreover, dot blot analyses, performed on several molluscan species, revealed a different degree of conservation of the repeated DNAs. Fluorescence in-situ hybridizations (FISH) on metaphase chromosomes showed that both satellite DNAs are located at centromeric regions.

  16. 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

  17. Molecular cytogenetic characterization and stem rust resistance of five wheat-Thinopyrum ponticum partial amphiploids.

    Science.gov (United States)

    Zheng, Qi; Lv, Zhenling; Niu, Zhixia; Li, Bin; Li, Hongwei; Xu, Steven S; Han, Fangpu; Li, Zhensheng

    2014-11-20

    Partial amphiploids created by crossing common wheat (Triticum aestivum L.) and Thinopyrum ponticum (Podp.) Barkworth & D. R. Dewey are important intermediates in wheat breeding because of their resistance to major wheat diseases. In this study, we examined the chromosome compositions of five Xiaoyan-series wheat-Th. ponticum partial amphiploids (Xiaoyan 68, Xiaoyan 693, Xiaoyan 784, Xiaoyan 7430, and Xiaoyan 7631) using GISH, multicolor-GISH, and multicolor-FISH. We found several chromosome changes in these lines. For example, wheat chromosomes 1B and 2B were added in Xiaoyan 68 and Xiaoyan 7430, respectively, while wheat chromosome 6B was eliminated from Xiaoyan 693 and Xiaoyan 7631. Chromosome rearrangements were also detected in these amphiploids, including an interspecific translocation involving chromosome 4D and some intergenomic translocations, such as A-B and A-D translocations, among wheat genomes. Analysis of the Th. ponticum chromosomes in the amphiploids showed that some lines shared the same alien chromosomes. We also evaluated these partial amphiploids for resistance to nine races of stem rust, including TTKSK (commonly known as Ug99). Three lines, Xiaoyan 68, Xiaoyan 784, and Xiaoyan 7430, exhibited excellent resistance to all nine races, and could therefore be valuable sources of stem rust resistance in wheat breeding. Copyright © 2014 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.

  18. 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.

  19. Reproduction and cytogenetic characterization of interspecific hybrids derived from crosses between Brassica carinata and B. rapa.

    Science.gov (United States)

    Li, M T; Li, Z Y; Zhang, C Y; Qian, W; Meng, J L

    2005-05-01

    The tri-genomic hybrid (ABC, 2n=27) between Brassica carinata (BBCC, 2n=34) and B. rapa (AA, 2n=20) is a unique material for studying genome relationships among Brassica species and a valuable bridge for transferring desirable characteristics from one species to the other within the genus Brassica. The crossability between B. carinata and B. rapa was varied with the cultivar of B. rapa. Hybrid pollen mother cells (PMCs), confirmed by morphological observation and molecular marker assay, could be grouped into 20 classes on the basis of chromosome pairing configurations. More than 30% of the PMCs had nine or more bivalents. Genomic in situ hybridization confirmed that two of the bivalents most likely belonged to the B genome. Nearly one-half of the PMCs had trivalents (0-2) and quadrivalents (0-2), which revealed partial homology among the A, B, and C genomes and suggested that there is a good possibility to transfer genes by means of recombination among the three genomes. The advantages of using the tri-genomic hybrids as bridge material for breeding new types of B. napus are discussed.

  20. DNA degradation during maturation of erythrocytes - molecular cytogenetic characterization of Howell-Jolly bodies.

    Science.gov (United States)

    Felka, T; Lemke, J; Lemke, C; Michel, S; Liehr, T; Claussen, U

    2007-01-01

    Howell-Jolly bodies (HJBs) are small DNA-containing inclusions of erythrocytes and are often present after splenectomy. The genetic composition of HJBs is unknown at present. We isolated individual erythrocytes that had inclusion bodies from five splenectomized patients and performed DNA amplification using degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) with subsequent reverse painting on normal male metaphase spreads. We also measured the sizes of HJBs in erythrocytes from a splenectomized patient using an inverted microscope. Two-dimensional positions of HJBs were projected onto a virtual erythrocyte. The average size of HJBs was 0.73 +/- 0.17 microm (range 0.4-1.1 microm). Inside the erythrocyte the HJBs were found to be equally distributed. Small HJBs contained DNA from one or two centromeres and larger HJBs contained DNA from up to eight different centromeres. Centromeric DNA from chromosomes 1/5, 7, 8, and 18 was most frequently observed. Signals from the centromeric regions of chromosomes 3, 4, 9, and 10 were not observed. Signals from euchromatic regions were detected in a few cases. We hypothesize that in addition to enucleation and nucleus fragmentation DNA degradation during maturation of erythrocytes preferentially eliminates euchromatic DNA. Similarities between these processes and those described for embryonic stem cells suggest that most stem cells are able to degrade DNA in a genetically controlled manner. Copyright (c) 2007 S. Karger AG, Basel.

  1. 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.

  2. Cytogenetic characterization of the invasive mussel species Xenostrobus securis Lmk. (Bivalvia: Mytilidae).

    Science.gov (United States)

    Pérez-García, Concepción; Morán, Paloma; Pasantes, Juan J

    2011-09-01

    The chromosomes of the invasive black-pigmy mussel (Xenostrobus securis (Lmk. 1819)) were analyzed by means of 4',6-diamidino-2-phenylindole (DAPI) / propidium iodide (PI) and chromomycin A3 (CMA) / DAPI fluorescence staining and fluorescent in situ hybridization using major rDNA, 5S rDNA, core histone genes, linker histone genes, and telomeric sequences as probes. The diploid chromosome number in this species is 2n = 30. The karyotype is composed of seven metacentric, one meta/submetacentric, and seven submetacentric chromosome pairs. Telomeric sequences appear at both ends of every single chromosome. Major rDNA clusters appear near the centromeres on chromosome pairs 1 and 3 and are associated with bright CMA fluorescence and dull DAPI fluorescence. This species shows five 5S rDNA clusters close to the centromeres on four chromosome pairs (2, 5, 6, and 8). Three of the four core histone gene clusters map to centromeric positions on chromosome pairs 7, 10, and 13. The fourth core histone gene cluster occupies a terminal position on chromosome pair 8, also bearing a 5S rDNA cluster. The two linker histone gene clusters are close to the centromeres on chromosome pairs 12 and 14. Therefore, the use of these probes allows the unequivocal identification of 11 of the 15 chromosome pairs that compose the karyotype of X. securis.

  3. Molecular Cytogenetic Characterization of Multiple Intrachromosomal Rearrangements in Two Representatives of the Genus Turdus (Turdidae, Passeriformes)

    Science.gov (United States)

    Kretschmer, Rafael; Gunski, Ricardo José; Garnero, Analía Del Valle; Furo, Ivanete de Oliveira; O'Brien, Patricia C. M.; Ferguson-Smith, Malcolm A.; de Oliveira, Edivaldo Herculano Corrêa

    2014-01-01

    Turdus rufiventris and Turdus albicollis, two songbirds belonging to the family Turdidae (Aves, Passeriformes) were studied by C-banding, 18S rDNA, as well as the use of whole chromosome probes derived from Gallus gallus (GGA) and Leucopternis albicollis (LAL). They showed very similar karyotypes, with 2n = 78 and the same pattern of distribution of heterochromatic blocks and hybridization patterns. However, the analysis of 18/28S rDNA has shown differences in the number of NOR-bearing chromosomes and ribosomal clusters. The hybridization pattern of GGA macrochromosomes was similar to the one found in songbirds studied by Fluorescent in situ hybridization, with fission of GGA 1 and GGA 4 chromosomes. In contrast, LAL chromosome paintings revealed a complex pattern of intrachromosomal rearrangements (paracentric and pericentric inversions) on chromosome 2, which corresponds to GGA1q. The first inversion changed the chromosomal morphology and the second and third inversions changed the order of chromosome segments. Karyotype analysis in Turdus revealed that this genus has derived characteristics in relation to the putative avian ancestral karyotype, highlighting the importance of using new tools for analysis of chromosomal evolution in birds, such as the probes derived from L. albicollis, which make it possible to identify intrachromosomal rearrangements not visible with the use of GGA chromosome painting solely. PMID:25058578

  4. Molecular cytogenetic characterization of multiple intrachromosomal rearrangements in two representatives of the genus Turdus (Turdidae, Passeriformes.

    Directory of Open Access Journals (Sweden)

    Rafael Kretschmer

    Full Text Available Turdus rufiventris and Turdus albicollis, two songbirds belonging to the family Turdidae (Aves, Passeriformes were studied by C-banding, 18S rDNA, as well as the use of whole chromosome probes derived from Gallus gallus (GGA and Leucopternis albicollis (LAL. They showed very similar karyotypes, with 2n = 78 and the same pattern of distribution of heterochromatic blocks and hybridization patterns. However, the analysis of 18/28S rDNA has shown differences in the number of NOR-bearing chromosomes and ribosomal clusters. The hybridization pattern of GGA macrochromosomes was similar to the one found in songbirds studied by Fluorescent in situ hybridization, with fission of GGA 1 and GGA 4 chromosomes. In contrast, LAL chromosome paintings revealed a complex pattern of intrachromosomal rearrangements (paracentric and pericentric inversions on chromosome 2, which corresponds to GGA1q. The first inversion changed the chromosomal morphology and the second and third inversions changed the order of chromosome segments. Karyotype analysis in Turdus revealed that this genus has derived characteristics in relation to the putative avian ancestral karyotype, highlighting the importance of using new tools for analysis of chromosomal evolution in birds, such as the probes derived from L. albicollis, which make it possible to identify intrachromosomal rearrangements not visible with the use of GGA chromosome painting solely.

  5. Cytogenetic analysis of Baryancistrus xanthellus (Siluriformes: Loricariidae: Ancistrini, an ornamental fish endemic to the Xingu River, Brazil

    Directory of Open Access Journals (Sweden)

    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.

  6. Cytogenetic studies on Apareiodon affinis (Pisces, Characiformes) from Paraná river basin: sex chromosomes and polymorphism.

    Science.gov (United States)

    Jorge, L C; Moreira-Filho, O

    2000-01-01

    Comparative cytogenetic studies were carried out on Apareiodon affinis from an important hydrographic system at South America, the Paraná river basin. Two distant regions were chosen, which were separated by Guaíra Falls (formerly Sete Quedas); the region in the upper part of the hydrographic basin is called Upper Parana (Brazil), whereas and the other in the lower part is called Lower Parana (Argentina). Individuals from Upper Parana have diploid numbers of 2n = 54 (NF= 108) for males and 2n = 55 (NF = 110) for females, showing female heterogamety with a ZZ/ZW1W2 multiple sex chromosomes system that is endemic for the region. In different localities at Lower Paraná, the specimens presented diploid number of 2n = 54 for both sexes, without any sex chromosomes heteromorphism. However, they have an accentuated polymorphism characterized by variation in number of acrocentric chromosomes, constituting something new for family Parodontidae. The most likely hypothesis to explain the origin of such polymorphism is based on successive pericentric inversions giving rise to acrocentric chromosomes. Thus, it was possible to detect 10 cytotypes along the Lower Parana basin. Such chromosomal variations possibly are the consequence of an adaptative process. Our data probably indicate the occurrence of distinct species in each region that share the same denomination.

  7. Studying the effect of antioxidants on cytogenetic manifestations of solvent exposure in the paint industry.

    Science.gov (United States)

    El Safty, Aamal; Metwally, Fateheya Mohamed; Mohammed Samir, Aisha; ElShahawy, Amir; Raouf, Ehab Abdel

    2015-12-01

    To investigate the antioxidant role in reversing cytogenetic changes caused by solvent exposure in paint industry. A prospective controlled clinical trial was performed on 39 workers exposed to solvents and 39 workers not exposed to solvents by supplying a mixture of antioxidant vitamins (A, C, E and selenium) and the after effects of such regimen were analyzed. Environmental monitoring was carried out for air concentrations of different solvents at workplace. Exposed group was cytogenetically tested before and after giving the mixture of antioxidant vitamins for 1 month duration. Frequency of chromosomal aberrations (CAs) and the mean of sister chromatid exchanges (SCEs) were statistically significantly higher among exposed workers than among controls. After the supplementation of antioxidants, there was a statistically significant decrease in the frequency of CAs, and 88% abnormal levels of SCEs were back to normal levels. Antioxidant supplementation decreases the frequency of CAs and SCEs among exposed workers. © The Author(s) 2013.

  8. Cytogenetic analysis of gingival epithelial cells, as related to smoking habits and occurrence of periodontal disease.

    Science.gov (United States)

    D'Agostini, Francesco; Calcagno, Enrico; Micale, Rosanna T; La Maestra, Sebastiano; De Flora, Silvio; Cingano, Luciano

    2013-01-01

    Periodontal disease, progressing from gingivitis to periodontitis, affects the majority of the world population. Its pathogenesis is related to a complex interaction between environmental, microbial, genetic and other host factors, tobacco smoking being the most important environmental risk factor. Conflicting results are reported in the literature regarding the effects of smoking habits on cytogenetic damage in exfoliated oral cells. We report herein the results of a study evaluating, for the first time, the frequency of micronucleated and binucleated cells in the gingival epithelium. There was no significant elevation of these cytogenetic end-points in 43 subjects as related to smoking habits (never-smokers, ex-smokers, and current smokers) and periodontal disease (mild, moderate, or severe forms of gingivitis and periodontitis). Therefore, the overall data emerging from the present study do not support the evidence for an association between smoking habits, periodontal disease and genotoxic damage in gingival epithelial cells. Copyright © 2012 Elsevier GmbH. All rights reserved.

  9. Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

    Science.gov (United States)

    Mattei, M G; Souiah, N; Mattei, J F

    1984-01-01

    The behaviour of chromosome 15 is very different from that of the other acrocentric chromosomes. The cytogenetic characteristics of rearrangements associated with Prader-Willi syndrome (PWS) are analyzed as similar rearrangements irrespective of the associated phenotype (reciprocal translocations of chromosome 15, small bisatellited additional chromosomes, Robertsonian translocations, interstitial deletions, pericentric inversions). This study suggests that: (1) The proximal ( 15q ) region and PWS seem to be indissociable ; (2) chromosome 15 has an indisputable cytogenetic originality which could be related to its histochemical properties. Chromosome 15 constitutive heterochromatin usually contains much 5-methylcytosine-rich DNA and a large amount of each of the four satellite DNAs. Furthermore the existence in the proximal ( 15q ) region of one or several palindromic sequences could be postulated to explain the great lability of this region of chromosome 15.

  10. Comparative analyses in Lotus: the cytogenetic map of Lotus uliginosus Schkuhr

    DEFF Research Database (Denmark)

    Ferreira, J.; Mendes, S.; Dall´Agnol, Miguel

    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...

  11. [Cytogenetical and molecular analyses in a horse with SRY-negative sex reversal].

    Science.gov (United States)

    Pieńkowska-Schelling, A; Becker, D; Bracher, V; Pineroli, B; Schelling, C

    2014-07-01

    Numerical and structural aberrations of chromosomes may cause malformations, embryonal losses and reduced or missing fertility. In male horses the fertility is rather well controlled through their semen evaluation. For mares there are no mandatory regulations which specify their use in a breeding programme. Therefore, mares with chromosomal aberrations, which exclude reproduction success may be chosen for breeding. The present case describes a horse, offically registered as a female, which was presented for a breeding exam. On this occasion, small and inactive ovaries were diagnosed. Although the cytogenetical analysis excluded a numerical or gross structural chromosome aberration, the karyotype (64,XY) corresponded to the male sex. The diagnosis male to female sex-reversal (SRY-negative) excludes reproductive success for this horse. This case underlines the importance of a cytogenetic analysis for female horses, before they enter a breeding programme.

  12. Psychiatric comorbidity in Adolescent Electronic and Conventional Cigarette Use

    OpenAIRE

    Leventhal, Adam M.; Strong, David R.; Sussman, Steve; Kirkpatrick, Matthew G.; Unger, Jennifer B.; Barrington-Trimis, Jessica L.; Audrain-McGovern, Janet

    2015-01-01

    The popularity of electronic (e-) cigarettes has greatly increased recently, particularly in adolescents. However, the extent of psychiatric comorbidity with adolescent e-cigarette use and dual use of conventional (combustible) and e-cigarettes is unknown. This study characterized psychiatric comorbidity in adolescent conventional and e-cigarette use. Ninth grade students attending high schools in Los Angeles, CA (M age=14) completed self-report measures of conventional/e-cigarette use, emoti...

  13. ESD and the Rio Conventions

    Science.gov (United States)

    Sarabhai, Kartikeya V.; Ravindranath, Shailaja; Schwarz, Rixa; Vyas, Purvi

    2012-01-01

    Chapter 36 of Agenda 21, a key document of the 1992 Earth Summit, emphasised reorienting education towards sustainable development. While two of the Rio conventions, the Convention on Biological Diversity (CBD) and the United Nations Framework Convention on Climate Change (UNFCCC), developed communication, education and public awareness (CEPA)…

  14. 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

  15. Cytogenetic and clinical features of a 13 year old male with trisomy 8

    OpenAIRE

    Balkan, Mahmut; Fidanboy, Mehmet; Özmen, Cihan; Özbek, M. Nuri; Otçu, Selçuk; Kapı, Emin; Budak, Turgay

    2012-01-01

    Trisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with “trisomy 8 mosaicism” are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted ...

  16. 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

    -resolution DNA flow cytometry on DAPI-stained sperm cell nuclei (CV animals judged normal by their fertility statistics and a series of seven animals with known reciprocal translocations, a model...... for identifying sperm cells from cytogenetically aberrant animals was proposed. This model was applied to a series of 50 uncharacterized animals. The model successfully identified a mosaic or chimaeric carrier of an aberrant X chromosome. However, implementation of this technique for screening purposes would...

  17. Comparative cytogenetic analysis of two grasshopper species of the tribe Abracrini (Ommatolampinae, Acrididae)

    OpenAIRE

    de França Rocha, Marília; de Melo, Natoniel Franklin; de Souza, Maria José

    2011-01-01

    The grasshopper species Orthoscapheus rufipes and Eujivarus fusiformis were analyzed using several cytogenetic techniques. The karyotype of O. rufipes, described here for the first time, had a diploid number of 2n = 23, whereas E. fusiformis had a karyotype with 2n = 21. The two species showed the same mechanism of sex determination (XO type) but differed in chromosome morphology. Pericentromeric blocks of constitutive heterochromatin (CH) were detected in the chromosome complement of both sp...

  18. Contribution of Cytogenetics to the Debate on the Paraphyly of Pachycondyla spp. (Hymenoptera, Formicidae, Ponerinae)

    OpenAIRE

    Cléa dos Santos Ferreira Mariano; Silvia das Graças Pompolo; Janisete Gomes Silva; Jacques Hubert Charles Delabie

    2012-01-01

    We present evidence of the paraphyly of the ant genus Pachycondyla resulting from our cytogenetic studies on 29 populations in 18 species from Brazil and French Guyana. It is likely that karyotypes with a large number of chromosomes and comprising mostly small acrocentric chromosomes in species within the Pachycondyla stricto sensu group resulted from a succession of centric fission events. On the other hand, karyotypes with a small chromosome number comprising mostly metacentric chromosomes ...

  19. Conventional mechanical ventilation

    Directory of Open Access Journals (Sweden)

    Tobias Joseph

    2010-01-01

    Full Text Available The provision of mechanical ventilation for the support of infants and children with respiratory failure or insufficiency is one of the most common techniques that are performed in the Pediatric Intensive Care Unit (PICU. Despite its widespread application in the PICUs of the 21st century, before the 1930s, respiratory failure was uniformly fatal due to the lack of equipment and techniques for airway management and ventilatory support. The operating rooms of the 1950s and 1960s provided the arena for the development of the manual skills and the refinement of the equipment needed for airway management, which subsequently led to the more widespread use of endotracheal intubation thereby ushering in the era of positive pressure ventilation. Although there seems to be an ever increasing complexity in the techniques of mechanical ventilation, its successful use in the PICU should be guided by the basic principles of gas exchange and the physiology of respiratory function. With an understanding of these key concepts and the use of basic concepts of mechanical ventilation, this technique can be successfully applied in both the PICU and the operating room. This article reviews the basic physiology of gas exchange, principles of pulmonary physiology, and the concepts of mechanical ventilation to provide an overview of the knowledge required for the provision of conventional mechanical ventilation in various clinical arenas.

  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 cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae

    Directory of Open Access Journals (Sweden)

    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.

  2. Phenotypic identification of subclones in multiple myeloma with different chemoresistant, cytogenetic and clonogenic potential.

    Science.gov (United States)

    Paíno, T; Paiva, B; Sayagués, J M; Mota, I; Carvalheiro, T; Corchete, L A; Aires-Mejía, I; Pérez, J J; Sanchez, M L; Barcena, P; Ocio, E M; San-Segundo, L; Sarasquete, M E; García-Sanz, R; Vidriales, M-B; Oriol, A; Hernández, M-T; Echeveste, M-A; Paiva, A; Blade, J; Lahuerta, J-J; Orfao, A; Mateos, M-V; Gutiérrez, N C; San-Miguel, J F

    2015-05-01

    Knowledge about clonal diversity and selection is critical to understand multiple myeloma (MM) pathogenesis, chemoresistance and progression. If targeted therapy becomes reality, identification and monitoring of intraclonal plasma cell (PC) heterogeneity would become increasingly demanded. Here we investigated the kinetics of intraclonal heterogeneity among 116 MM patients using 23-marker multidimensional flow cytometry (MFC) and principal component analysis, at diagnosis and during minimal residual disease (MRD) monitoring. Distinct phenotypic subclones were observed in 35/116 (30%) newly diagnosed MM patients. In 10/35 patients, persistent MRD was detected after 9 induction cycles, and longitudinal comparison of patient-paired diagnostic vs MRD samples unraveled phenotypic clonal tiding after therapy in half (5/10) of the patients. After demonstrating selection of distinct phenotypic subsets by therapeutic pressure, we investigated whether distinct fluorescence-activated cell-sorted PC subclones had different clonogenic and cytogenetic profiles. In half (5/10) of the patients analyzed, distinct phenotypic subclones showed different clonogenic potential when co-cultured with stromal cells, and in 6/11 cases distinct phenotypic subclones displayed unique cytogenetic profiles by interphase fluorescence in situ hybridization, including selective del(17p13). Collectively, we unravel potential therapeutic selection of preexisting diagnostic phenotypic subclones during MRD monitoring; because phenotypically distinct PCs may show different clonogenic and cytogenetic profiles, identification and follow-up of unique phenotypic-genetic myeloma PC subclones may become relevant for tailored therapy.

  3. Immuno-cytogenetic manifestation of epigenetic chromatin modification marks in plants.

    Science.gov (United States)

    Sharma, Santosh Kumar; Yamamoto, Maki; Mukai, Yasuhiko

    2015-02-01

    Histone proteins and the nucleosomes along with DNA are the essential components of eukaryotic chromatin. Post-translational histone-DNA interactions and modifications eventually offer significant alteration in the chromatin environment and potentially influence diverse fundamental biological processes, some of which are known to be epigenetically inherited and constitute the "epigenetic code". Such chromatin modifications evidently uncover remarkable diversity and biological specificity associated with distinct patterns of covalent histone marks. The past few years have witnessed major breakthroughs in plant biology research by utilizing chromatin modification-specific antibodies through molecular cytogenetic tools to ascertain hallmark signatures of chromatin domains on the chromosomes. Here, we survey current information on chromosomal distribution patterns of chromatin modifications with special emphasis on histone methylation, acetylation, phosphorylation, and centromere-specific histone 3 (CENH3) marks in plants using immuno-FISH as a basic tool. Major available information has been classified under typical and comparative cytogenetic detection of chromatin modifications in plants. Further, spatial distribution of chromatin environment that exists between different cell types such as angiosperm/gymnosperm, monocot/dicot, diploid/polyploids, vegetative/generative cells, as well as different stages, i.e., mitosis versus meiosis has also been discussed in detail. Several challenges and future perspectives of molecular cytogenetics in the grooming field of plant chromatin dynamics have also been addressed.

  4. 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

    none declared. 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. Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. 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. 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.

  5. 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

  6. Molecular cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae)

    Science.gov (United States)

    Guo, Minglan; Wang, Shifeng; Su, Yongquan; Zhou, Yongcan; Liu, Min

    2014-01-01

    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 (TTAGGG)n 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. PMID:24949234

  7. 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.

  8. Evaluation of cytogenetic and DNA damage in human lymphocytes treated with adrenaline in vitro.

    Science.gov (United States)

    Djelić, Ninoslav; Radaković, Milena; Spremo-Potparević, Biljana; Zivković, Lada; Bajić, Vladan; Stevanović, Jevrosima; Stanimirović, Zoran

    2015-02-01

    Catechol groups can be involved in redox cycling accompanied by generation of reactive oxygen species (ROS) which may lead to oxidative damage of cellular macromolecules including DNA. The objective of this investigation was to evaluate possible genotoxic effects of a natural catecholamine adrenaline in cultured human lymphocytes using cytogenetic (sister chromatid exchange and micronuclei) and the single cell gel electrophoresis (Comet) assay. In cytogenetic tests, six experimental concentrations of adrenaline were used in a range from 0.01-500 μM. There were no indications of genotoxic effects of adrenaline in sister chromatid exchange and micronucleus tests. However, at four highest concentrations of adrenaline (5 μM, 50 μM, 150 μM and 300 μM) we observed a decreased mitotic index and cell-cycle delay. In addition, in the Comet assay we used adrenaline in a range from 0.0005-500 μM, at two treatment times: 15 min or 60 min. In contrast to cytogenetic analysis, there was a dose-dependent increase of DNA damage detected in the Comet assay. These effects were significantly reduced by concomitant treatment with quercetin or catalase. Therefore, the obtained results indicate that adrenaline may exhibit genotoxic effects in cultured human lymphocytes, most likely due to production of reactive oxygen species. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. 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.  

  10. [Study on cytogenetic changes with relation to FAB classification in 397 patients with acute leukemias].

    Science.gov (United States)

    Huo, Fei-Fei; Liu, Xin; Sun, Zi-Min; Zhu, Wei-Bo; Zheng, Chang-Cheng; Wang, Jian; Wu, Zhi-Wei

    2011-02-01

    The purpose of study was to investigate the cytogenetic abnormality of acute leukemias (AL), to analyze the relationship in the chromosomal abnormality and the AL FAB types, and to explore the impact of the chromosomal abnormalities on the prognostic factors of AL. The chromosome karyotypes of 397 patients with AL were analyzed by means of bone marrow short-term culture and G banding technique. The results showed that in 319 out of 397 patients, the chromosome karyotypes could be analyzed, and the chromosomal abnormality occurred in 175 patients (54.9%). In the patients with acute lymphocytic leukemia (ALL), acute myelogenous leukemia (AML) and acute mixed-lineage leukemia (AMLL), the chromosomal abnormality occurred respectively in 33 of 120 patients (27.5%), 129 of 252 patients (51.2%) and 13 of 25 patients (52.0%). Hyper-diploids, hypo-diploids and diploids occurred in 41 of 175 patients (23.4%), 22 of 175 patients (12.5%), and 112 of 175 patients (64.0%) respectively. In patients with AML the FAB type-associated chromosomal abnormality occurred in 69 of 129 patients (53.5%). It is concluded that chromosomal abnormalities exist in about 55% AL patients. Some special chromosomal abnormalities are cytogenetic characteristics of AL, and obviously correlated with AL FAB types, the combination of chromosomal detection with cytogenetics is useful for the diagnosis of AL, and the evaluation of therapeutic effects and prognosis.

  11. Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome

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    Onur Ozer

    2012-04-01

    Full Text Available Objective: Fragile X syndrome (FXS is the most common cause of inherited mental retardation and is due to a mutation in the X-linked FMR1 gene. Molecular genetic testing and chromosome analysis are indicated for this disorder. In this context, we tried to determine the frequency of the FXS, and other chro¬mosomal abnormalities of Turkish pediatric neurology outpatients. Materials and Methods: Cytogenetic and molecular screenings were performed to esti-mate the prevalence of the fragile X in 107 patients with mental retardation, language disorders, hyperactivity, develop¬mental delay or fragile X syndrome phenotype. Only 26 out of 107 patients were screened, molecularly. Results: Cytogenetically fragile X-positive cells was found in 8 cases (7.5% of 107 patients; in 4.7% of males and in 2.8% of females. The autosomal fragile sites (FS was found in 14 (13.1% cases. One (0.9% patient had pericentric inversion of chromosome 9. Molecular analysis were performed for 26 patients and all patients showed normal CGG expansion. Conclusion: In diagnosis of fragile X syndrome, chromosome analysis must be run in conjunction with the molecular studies. It is recommended that all members of the fragile X family under risk should be screened both by cytogenetic and molecular methods. Genetic counseling can be useful to patients and families considering genetic testing. [Cukurova Med J 2012; 37(2.000: 76-83

  12. 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.

  13. Multiparameter Conventional Flow Cytometry.

    Science.gov (United States)

    McKinnon, Katherine M

    2018-01-01

    Multicolor flow cytometry is a useful technique when examining mixed populations of cells, such as blood and tissue cells in human and animal samples. The ability to use multiple fluorescent markers simultaneously allows for the identification of multiple cell types, as well as functional markers that further characterize each sample. The introduction of instruments capable of measuring 12-plus colors and new reagents has made this type of flow cytometry both popular and problematic. Adapting a typical staining panel from 4 to 6 color tubes to more than 12 colors is not simply a matter of "plug and play", but must be approached in a systematic manner to achieve a successful multi-parameter staining panel. This chapter will examine the considerations and methods needed to successfully perform multicolor flow cytometry.

  14. Comparative cytogenetics of three species of Dichotomius (Coleoptera, Scarabaeidae

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    Guilherme Messias da Silva

    2009-01-01

    Full Text Available Meiotic and mitotic chromosomes of Dichotomius nisus, D. semisquamosus and D. sericeus were analyzed after conventional staining, C-banding and silver nitrate staining. In addition, Dichotomius nisus and D. semisquamosus chromosomes were also analyzed after fluorescent in situ hybridization (FISH with an rDNA probe. The species analyzed had an asymmetrical karyotype with 2n = 18 and meta-submetacentric chromosomes. The sex determination mechanism was of the Xy p type in D. nisus and D. semisquamosus and of the Xyr type in D. sericeus. C-banding revealed the presence of pericentromeric blocks of constitutive heterochromatin (CH in all the chromosomes of the three species. After silver staining, the nucleolar organizer regions (NORs were located in autosomes of D. semisquamosus and D. sericeus and in the sexual bivalent of D. nisus. FISH with an rDNA probe confirmed NORs location in D. semisquamosus and in D. nisus. Our results suggest that chromosome inversions and fusions occurred during the evolution of the group.

  15. Application of the Aarhus Convention

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    Tubić Bojan

    2011-01-01

    Full Text Available Convention on access to information, public participation in decision-making and access to justice in environmental matters (Aarhus Convention has been adopted in 1998 and entered into force three years later. It envisages three elements for strengthening democratic procedures in decision-making: access to information, public participation and access to justice. At the first meeting of the Member States the Aarhus Convention Compliance Committee was founded. The European Union is a party of the Convention and it has implemented the provisions in its legal order. After entering into force of the Convention, several Directives that regulate these issues in the EU have been enacted. Republic of Serbia has ratified the Convention in 2009 and it is currently in the process of its implementation by involving private subjects in decision-making on environmental issues.

  16. Characterization and quantification of odor-active compounds in unsaturated fatty acid/conjugated linoleic acid (UFA/CLA)-enriched butter and in conventional butter during storage and induced oxidation.

    Science.gov (United States)

    Mallia, Silvia; Escher, Felix; Dubois, Sébastien; Schieberle, Peter; Schlichtherle-Cerny, Hedwig

    2009-08-26

    Dairy products enriched in unsaturated fatty acids (UFA) and conjugated linoleic acids (CLA) have a higher nutritional value and are suggested to have beneficial health effects. However, such acids are susceptible to oxidation, and off-flavors may be formed during storage. This study was aimed to compare the most important odorants in UFA/CLA-enriched butter to that of conventional butter during storage and induced oxidation. Volatiles were isolated by solvent-assisted flavor evaporation and identified by gas chromatography-olfactometry and mass spectrometry. Aroma extract dilution analysis revealed 18 odorants that were quantified by stable isotope dilution analysis. Another important odorant, 3-methyl-1H-indole (mothball-like odor), was quantified by high-performance liquid chromatography. After storage, UFA/CLA-enriched butter showed higher concentrations of pentanal (fatty), heptanal (green), butanoic acid (cheesy), and delta-decalactone (peach-like). Photo-oxidation of butter samples induced increases in heptanal, (E)-2-octenal, and trans-4,5-epoxy-(E)-2-decenal, especially in conventional butter. The higher vitamin content in UFA/CLA samples may protect this butter from oxidation.

  17. Understanding the conventional arms trade

    Science.gov (United States)

    Stohl, Rachel

    2017-11-01

    The global conventional arms trade is worth tens of billions of dollars every year and is engaged in by every country in the world. Yet, it is often difficult to control the legal trade in conventional arms and there is a thriving illicit market, willing to arm unscrupulous regimes and nefarious non-state actors. This chapter examines the international conventional arms trade, the range of tools that have been used to control it, and challenges to these international regimes.

  18. Small-Angle X-ray Scattering Screening Complements Conventional Biophysical Analysis

    DEFF Research Database (Denmark)

    Tian, Xinsheng; Langkilde, Annette Eva; Thorolfsson, Matthias

    2014-01-01

    introduce small-angle X-ray scattering (SAXS) to characterize antibody solution behavior, which strongly complements conventional biophysical analysis. First, we apply a variety of conventional biophysical techniques for the evaluation of structural, conformational, and colloidal stability and report...

  19. [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.

  20. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

    Science.gov (United States)

    Schmidt, T; Bierhals, T; Kortüm, F; Bartels, I; Liehr, T; Burfeind, P; Shoukier, M; Frank, V; Bergmann, C; Kutsche, K

    2014-01-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominantly inherited developmental disorder, which is characterized by anomalies of the ears, the branchial arches and the kidneys. It is caused by mutations in the genes EYA1,SIX1 and SIX5. Genomic rearrangements of chromosome 8 affecting the EYA1 gene have also been described. Owing to this fact, methods for the identification of abnormal copy numbers such as multiplex ligation-dependent probe amplification (MLPA) have been introduced as routine laboratory techniques for molecular diagnostics of BOR syndrome. The advantages of these techniques are clear compared to standard cytogenetic and array approaches as well as Southern blot. MLPA detects deletions or duplications of a part or the entire gene of interest, but not balanced structural aberrations such as inversions and translocations. Consequently, disruption of a gene by a genomic rearrangement may escape detection by a molecular genetic analysis, although this gene interruption results in haploinsufficiency and, therefore, causes the disease. In a patient with clinical features of BOR syndrome, such as hearing loss, preauricular fistulas and facial dysmorphisms, but no renal anomalies, neither sequencing of the 3 genes linked to BOR syndrome nor array comparative genomic hybridization and MLPA were able to uncover a causative mutation. By routine cytogenetic analysis, we finally identified a pericentric inversion of chromosome 8 in the affected female. High-resolution multicolor banding confirmed the chromosome 8 inversion and narrowed down the karyotype to 46,XX,inv(8)(p22q13). By applying fluorescence in situ hybridization, we narrowed down both breakpoints on chromosome 8 and found the EYA1 gene in q13.3 to be directly disrupted. We conclude that standard karyotyping should not be neglected in the genetic diagnostics of BOR syndrome or other Mendelian disorders, particularly when molecular testing failed to detect any causative alteration in patients with

  1. 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

  2. Frequency of USP6 rearrangements in myositis ossificans, brown tumor, and cherubism: molecular cytogenetic evidence that a subset of "myositis ossificans-like lesions" are the early phases in the formation of soft-tissue aneurysmal bone cyst.

    Science.gov (United States)

    Sukov, William R; Franco, Marcello F; Erickson-Johnson, Michele; Chou, Margaret M; Unni, K Krishnan; Wenger, Doris E; Wang, Xiaoke; Oliveira, Andre M

    2008-04-01

    USP6 rearrangements with several partner genes have been identified recently in primary but not in secondary aneurysmal bone cysts (ABCs). Several lesions show histologic features that may overlap with ABC, including myositis ossificans (MO), brown tumor, and cherubism. The objective of this study was to assess whether these lesions harbored USP6 rearrangements. Twelve patients with classic radiologic and histologic features of MO, 6 with brown tumors, and 5 with cherubism diagnosed at our institution were studied for the presence of USP6 rearrangements using fluorescence in situ hybridization with probes flanking the USP6 locus on chromosome 17p13. In addition, conventional cytogenetic analysis was performed in 2 patients with cherubism. USP6 rearrangements were identified in 2 patients with radiologic and histologic features consistent with MO. None of the patients with brown tumor or cherubism demonstrated USP6 rearrangements. Cytogenetic analysis of the cherubism patients demonstrated normal karyotypes. These findings indicate that a subset of cases with apparent classic histologic and imaging features of MO are rather better classified as being soft-tissue ABC with clonal USP6 rearrangements. In contrast, no USP6 rearrangements were found in patients with cherubism or brown tumor, supporting the prevailing view that these lesions are distinct biologic entities.

  3. Clinical characterization of OSL dosimeters for use in dosimetry of teletherapy beams in conventional fractionation; Caracterizacion clinica de dosimetros OSL para su uso en dosimetria de haces de teleterapia en fraccionamiento convencional

    Energy Technology Data Exchange (ETDEWEB)

    Lopez V, A.; Gutierrez M, J. G.; Rivera M, T. [IPN, Centro de Investigacion en Ciencia Aplicada y Tecnologia Avanzada, Av. Legaria No. 694, Col. Irrigacion, 11500 Mexico D. F. (Mexico); Velazquez T, J. J., E-mail: jggm25@yahoo.com.mx [Centro Medico Nacional Siglo XXI, Hospital de Oncologia, Departamento de Fisica Medica, Av. Cuauhtemoc No. 330, Col. Doctores, 06720 Mexico D. F. (Mexico)

    2015-10-15

    Optically stimulated materials are increasingly used for dosimetry in clinical settings; to be sure of the obtained reading their proper clinical characterization is necessary. Is important to know the homogeneity of a batch, reproducibility, be exposed to the same conditions of irradiation repeatedly and other dependences that could present such as energy, angular, the type of radiation which are exposed and the dose deposited in them. For characterization they were designed and implemented tests for each of the factors of interest, taking into account the need for them (calculations, manufacture of mannequins, conditions, practicality, etc.) It was shown that we can apply this dosimetry in clinical practice within a radiotherapy center, relying on the readings and practicality. (Author)

  4. [Maternal cell contamination of cultures of spontaneous abortion fibroblasts: importance for cytogenetic analysis of embryonic lethality].

    Science.gov (United States)

    Nikitina, T V; Lebedev, I N; Sukhanova, N N; Sazhenova, E A; Nazarenko, S A

    2004-07-01

    The results of standard cytogenetic analysis of the long-term cultures of embryonic fibroblasts of 478 first-trimester spontaneous abortions were retrospectively reviewed. In 16% of embryos with cytogenetically confirmed karyotype 46,XX, the Y chromosome was found by molecular genetic methods. Prior to obtaining the chromosome preparations, the cell cultures of Y chromosome-carrying embryos were maintained for a longer period than the cultures of embryos without the Y chromosome. Thus, a late entry of a culture into the logarithmic growth phase serves as marker of maternal cell contamination. We developed a mathematic model for assessment of karyotype incidence and the "sex ratio" of spontaneous abortions, taking into account risk of maternal cell contamination in extraembryonic tissue cultures. Thus estimated, the incidence of chromosomal abnormalities in the studied sample increased from 54.6 to 60.3% and the expected sex ratio increased from 0.66 to 1.02 in abortions with normal karyotype. Using molecular analysis of inheritance of polymorphic DNA markers of six autosomes (2, 11, 16, 19, 20, and 21), the proposed model was tested on 60 embryos with karyotype 46,XX and their parents. Numerical chromosome abnormalities were revealed in uncultured tissues of seven abortions (11.7%), including four without the Y chromosome, which is in a good agreement with the expected incidence of karyotype abnormalities (8.3%) predicted by our model. In view of this, estimating risk of maternal cell contamination in embryonic cell cultures seems necessary for correctly assessing the effect of natural selection in humans, for understanding the mechanisms that determine the sex ratio, and for evaluating the precision of prenatal cytogenetic diagnosis of chromosomal abnormalities.

  5. Cytogenetic and molecular analysis of male infertility: Y chromosome deletion during nonobstructive azoospermia and severe oligozoospermia.

    Science.gov (United States)

    Dada, Rima; Gupta, N P; Kucheria, K

    2006-01-01

    Reduced male fertility and subfertility can be caused by genetic factors that affect both germ cell development, differentiation, and function; in particular, chromosome abnormalities and Yq microdeletions are a possible cause of spermatogenetic impairment in males as shown by their higher frequency in infertile men than in the general male population. Microdeletion of the long arm of the Y chromosome (Yq) are associated with spermatogenic failure and have been used to define three regions on Yq (AZFa, AZFb, and AZFc) that are critical for germ cell development. With the advent of assisted reproductive technology and intracytoplasmic sperm injection, knowledge about the various factors leading to spermatogenic impairment is one of the most important aspects of scientific research. Therefore, this study was designed to identify the frequency of cytogenetic and submicroscopic interstitial deletions in azoospermia factor loci in infertile Indian males. One hundred and eighty males with nonobstructive oligozoospermia and azoospermia were included in this study. Semen analysis was done in each case to determine the spermatogenic status. Individuals were subjected to detailed clinical examination, family history, and endocrinological and cytogenetic study after consent from the patient. Peripheral blood cultures were set up according to standard protocols and 30 G-banded metaphases were analyzed in each case. Numerical and structural chromosomal abnormalities were detected in 40 infertile cases. Fluorescence in situ hybridization analysis was done in some cases to identify the percentage of mosaic cell lines and any cryptic or low-level mosaicism. Polymerase chain reaction microdeletion analysis was done in 140 cytogenetically normal cases. Of the 140 cases, 8 showed deletion of at least one of the sequence-tagged site markers. Review of literature has shown that the overall frequency of microdeletions varies from 1 to 55%. In the present study, the frequency of

  6. Relationship Between Cytogenetic Complexity and Peritumoral Edema in High-Grade Astrocytoma.

    Science.gov (United States)

    Jeong, Kyung Ho; Song, Young Jin; Han, Jin Yeong; Kim, Ki Uk

    2016-11-01

    The purpose of the study is to reveal the association of cytogenetic compltyexi and peritumoral edema volume (PTEV) and its prognostic significance in high-grade astrocytoma patients by culturing patient tumor cells. Twenty-seven high-grade astrocytoma patients were divided into three groups according to karyotype complexity: normal, non-complex karyotype (NCK), and complex karyotype (CK). Endothelial growth factor receptor (EGFR) amplification was detected by FISH, and its association with chromosome 7 abnormalities was analyzed. Mean PTEV of each group was compared by ANOVA to evaluate the relationship between PTEV and cytogenetic complexity. The PTEV of patients in normal (n=6), NCK (n=8), and CK (n=13) groups were 24.52±17.73, 34.26±35.04, and 86.31±48.7 cm³, respectively (P=0.005). Ten out of 11 patients with EGFR amplification showed abnormalities in chromosome 7. The mean PTEV of EGFR-amplified and non-amplified groups were 80.4±53.7 and 41.3±37.9 cm³, respectively (P=0.035). The average survival of patients with PTEV less than 90 cm³ was 30.52±26.11 months, while in patients with PTEVs over or equal to 90 cm³, it was 10.83±5.53 months (P=0.007). The results show an association of complex karyotype with the PTEV of high-grade astrocytoma. EGFR amplification plays a significant role in the formation of peritumoral edema, causing PTEV to increase, which is related with survival. This implies that cytogenetic karyotype can be applied as a prognostic factor.

  7. 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.

  8. Spontaneous abortion and recurrent miscarriage: A comparison of cytogenetic diagnosis in 250 cases.

    Science.gov (United States)

    Choi, Tae Yeong; Lee, Hye Min; Park, Won Kyoung; Jeong, So Yeong; Moon, Hwa Sook

    2014-11-01

    The purpose of this study was to determine the frequency and distribution of cytogenetically abnormal miscarriages in couples with spontaneous abortions (SA) or recurrent miscarriages (RM). Karyotyping of specimens from 164 abortuses with SA and 86 abortuses with RM was successfully performed according to the standard cytogenetic methods using G-banding technique. Among the total 164 cases of SA group, 81 (49.4%) were euploid and the rest (83, 50.6%) showed chromosomal abnormalities. In RM(≥2) and RM(≥3) group, 31 (36.0%)/27 (34.6%) cases were euploid and 55 (64.0%)/51(65.4%) cases were abnormal, respectively. A statistically significant difference was found in the rate of cytogenetic abnormality between SA and RM groups (P<0.05). In all groups, women with advanced maternal age (≥35 years) had a higher rate of chromosome anomalies compared with women younger than age 35 (normal:abnormal = 32.4%:67.6% for ≥35 years and 53.8%:46.2% for <35 years in SA; 19.2%:80.8%/21.7%:78.3% for ≥35 years and 43.3%:56.7%/40.0%:60.0% for <35 years in RM(≥2) and RM(≥3), respectively; P<0.05). In SA group, an increase of normal karyotypes was noted with increased gestational age (<10 week, 38.0%; 10-15 week, 53.5%; 16-20 week, 65.7%). In RM group, most of cases were in <10 week and the frequency of trisomies with chromosomes 1 to 10 were increased compared with that of SA. There was a statistically significant difference in the frequency and distribution of chromosomal abnormalities between SA and RM groups. Our results will provide useful information for diagnosis and genetic counseling of patients with SA or RM.

  9. Cytogenetic studies in green mussel, Perna viridis (Mytiloida: Pteriomorphia), from West Coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Iqbal, A.N.M.Z.; Khan, M.S.; Goswami, U.

    43:1–8 Hinegardner R (1974) Cellular DNA content of the mollusca. Comp Biochem Physiol 47A:447–460 FAO (2004) The state of the world fisheries and aquaculture. FAO, Roam Howell WM, Black DA (1980) Controlled silver staining of nucleolus organizing... of the Mollusca. Oxford University Press, Oxford, pp 337–359 Nakamura HK (1985) A review of molluscan cytogenetic information based on CISMOCH-Computerized Index System for Molluscan Chromosomes. Bivalvia Polyplacophora and Cephalopoda.Venus 44:193–226 Pasantes JJ...

  10. 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.

  11. 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...... found in carcinomas but not in adenomas, indicating that they might be specifically associated with carcinoma development in the large bowel mucosa. The karyotypic similarity seen between the malignant and benign tumours in the same patient, and also sometimes among non-malignant polyps in the same case...

  12. Current treatment options: impact of cytogenetics on the course of myelodysplasia.

    Science.gov (United States)

    Galili, Naomi; Cerny, Jan; Raza, Azra

    2007-04-01

    The heterogeneity of myelodysplastic syndromes (MDS) has driven the search for unifying biologic and clinical features that would stratify patients into distinct prognostic and therapeutic subgroups. Cytogenetics has been shown to impact the course of myelodysplasia. Despite the presence of non-random cytogenetic abnormalities in approximately 50% of MDS patients, it is significant that only a proportion of metaphases may contain the abnormality. Clonality studies however show that the karyotypically normal metaphases are still part of the MDS clone. This would suggest that the chromosomal abnormality may not be the initiating lesion in MDS, and that the gross karyotypic changes represent clonal evolution in a genetically unstable population. Yet, as will be described below, specific cytogenetic abnormalities are associated with clinically and biologically distinct forms of the disease, most notable in the response of del(5q) patients to lenalidomide. One possible explanation for the appearance of non-random mutational events could relate to the interaction of MDS cells with their microenvironment. Whatever the initiating lesion in the MDS stem cell, the end result is a clonal expansion where the marrow becomes populated by the monoclonal progeny of this cell. Interaction of these cells with a microenvironment which has been shown to be rich in pro-apoptotic cytokines such as tumor necrosis factor alpha (TNFa), leads to increased genetic instability. Hypoxia mediated decrease in DNA repair enzymes could further accelerate mutational events culminating in accumulation of multiple chromosomal abnormalities. Some of these chromosomal changes are associated with increased sensitivity to specific drugs. Lenalidomide has shown a high degree of efficacy in MDS patients with del(5q), although the target for the drug is unknown since a small but significant subset of MDS patients without del(5q) abnormality also respond to the drug. In contrast, the molecular target for

  13. 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.

  14. 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

    these cases the fetal karyotype was established. A chromosome abnormality was found in 2.0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2.3 per cent. Maternal cell contamination in the cultures was confirmed in 13...... 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...

  15. [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.

  16. 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

  17. 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.

  18. Extranodal marginal zone lymphoma in the ocular region: clinical, immunophenotypical, and cytogenetical characteristics

    DEFF Research Database (Denmark)

    Sjö, Lene D; Heegaard, Steffen; Prause, Jan U

    2008-01-01

    the period 1980 to 2005 were reviewed and reclassified according to the World Health Organization (WHO) classification. Cases reclassified as EMZL were selected and reviewed with respect to clinical characteristics and outcome. The presence of translocations involving IGH and/or MALT1 was investigated in 42......PURPOSE: To evaluate clinical, immunophenotypical, and cytogenetical characteristics of 116 patients with a diagnosis of extranodal marginal zone lymphoma (EMZL) presenting primarily in the ocular region. METHODS: Specimens from all patients with a diagnosis of ophthalmic lymphoma in Denmark during...

  19. 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

  20. The NPM1 mutation type has no impact on survival in cytogenetically normal AML.

    Directory of Open Access Journals (Sweden)

    Friederike Pastore

    Full Text Available NPM1 mutations represent frequent genetic alterations in patients with acute myeloid leukemia (AML associated with a favorable prognosis. Different types of NPM1 mutations have been described. The purpose of our study was to evaluate the relevance of different NPM1 mutation types with regard to clinical outcome. Our analyses were based on 349 NPM1-mutated AML patients treated in the AMLCG99 trial. Complete remission rates, overall survival and relapse-free survival were not significantly different between patients with NPM1 type A or rare type mutations. The NPM1 mutation type does not seem to play a role in risk stratification of cytogenetically normal AML.

  1. The fragile X-chromosome : an evaluation of the results in a routine cytogenetic laboratory in the period 1981-1986

    NARCIS (Netherlands)

    Veenema, H; Beverstock, G C; de Koning, T; Pearson, P L; van de Kamp, J J

    We report on the cytogenetic studies, performed in a routine cytogenetic laboratory between 1981 and 1986, on 428 subjects: 291 probands with non-specific mental retardation, 101 first-degree relatives of fra(X) positive patients and 36 non-retarded patients, referred for other reasons. As a rule 50

  2. Molecular cytogenetic identification of a novel wheat-Agropyron elongatum chromosome translocation line with powdery mildew resistance.

    Directory of Open Access Journals (Sweden)

    Xiaojun Li

    Full Text Available Agropyron elongatum (Host. Neviski (synonym, Thinopyrum ponticum Podp., 2n = 70 has been used extensively as a valuable source for wheat breeding. Numerous chromosome fragments containing valuable genes have been successfully translocated into wheat from A. elongatum. However, reports on the transfer of powdery mildew resistance from A. elongatum to wheat are rare. In this study, a novel wheat-A. elongatum translocation line, 11-20-1, developed and selected from the progenies of a sequential cross between wheat varieties (Lankaoaizaoba, Keyu 818 and BainongAK 58 and A. elongatum, was evaluated for disease resistance and characterized using molecular cytogenetic methods. Cytological observations indicated that 11-20-1 had 42 chromosomes and formed 21 bivalents at meiotic metaphase I. Genomic in situ hybridization analysis using whole genomic DNA from A. elongatum as a probe showed that the short arms of a pair of wheat chromosomes were replaced by a pair of A. elongatum chromosome arms. Fluorescence in situ hybridization, using wheat D chromosome specific sequence pAs1 as a probe, suggested that the replaced chromosome arms of 11-20-1 were 5DS. This was further confirmed by wheat SSR markers specific for 5DS. EST-SSR and EST-STS multiple loci markers confirmed that the introduced A. elongatum chromosome arms belonged to homoeologous group 5. Therefore, it was deduced that 11-20-1 was a wheat-A. elongatum T5DL∙5AgS translocation line. Both resistance observation and molecular marker analyses using two specific markers (BE443538 and CD452608 of A. elongatum in a F2 population from a cross between line 11-20-1 and a susceptible cultivar Yannong 19 verified that the A. elongatum chromosomes were responsible for the powdery mildew resistance. This work suggests that 11-20-1 likely contains a novel resistance gene against powdery mildew. We expect this line to be useful for the genetic improvement of wheat.

  3. Molecular cytogenetic identification of a novel wheat-Agropyron elongatum chromosome translocation line with powdery mildew resistance.

    Science.gov (United States)

    Li, Xiaojun; Jiang, Xiaoling; Chen, Xiangdong; Song, Jie; Ren, Cuicui; Xiao, Yajuan; Gao, Xiaohui; Ru, Zhengang

    2017-01-01

    Agropyron elongatum (Host.) Neviski (synonym, Thinopyrum ponticum Podp., 2n = 70) has been used extensively as a valuable source for wheat breeding. Numerous chromosome fragments containing valuable genes have been successfully translocated into wheat from A. elongatum. However, reports on the transfer of powdery mildew resistance from A. elongatum to wheat are rare. In this study, a novel wheat-A. elongatum translocation line, 11-20-1, developed and selected from the progenies of a sequential cross between wheat varieties (Lankaoaizaoba, Keyu 818 and BainongAK 58) and A. elongatum, was evaluated for disease resistance and characterized using molecular cytogenetic methods. Cytological observations indicated that 11-20-1 had 42 chromosomes and formed 21 bivalents at meiotic metaphase I. Genomic in situ hybridization analysis using whole genomic DNA from A. elongatum as a probe showed that the short arms of a pair of wheat chromosomes were replaced by a pair of A. elongatum chromosome arms. Fluorescence in situ hybridization, using wheat D chromosome specific sequence pAs1 as a probe, suggested that the replaced chromosome arms of 11-20-1 were 5DS. This was further confirmed by wheat SSR markers specific for 5DS. EST-SSR and EST-STS multiple loci markers confirmed that the introduced A. elongatum chromosome arms belonged to homoeologous group 5. Therefore, it was deduced that 11-20-1 was a wheat-A. elongatum T5DL∙5AgS translocation line. Both resistance observation and molecular marker analyses using two specific markers (BE443538 and CD452608) of A. elongatum in a F2 population from a cross between line 11-20-1 and a susceptible cultivar Yannong 19 verified that the A. elongatum chromosomes were responsible for the powdery mildew resistance. This work suggests that 11-20-1 likely contains a novel resistance gene against powdery mildew. We expect this line to be useful for the genetic improvement of wheat.

  4. 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.

  5. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.

    Science.gov (United States)

    Afifi, H H; Zaki, M S; El-Gerzawy, A M S; Kayed, H F

    2008-01-01

    Jacobsen syndrome is a rare disorder, caused by segmental monosomy for the distal end of the long arm of chromosome 11 with variable phenotypic expressivity. We report on the first male (6 years old) and female (3 years old) sibs with clinical and cytogenetics characterization of Jacobsen syndrome. Their karyotypes showed deletion 11q23.3-qter. Patients presented with growth and psychomotor retardation, facial dysmorphism, eye anomalies, and congenital heart disease (variable degrees of septal defect). Family history revealed a clinically similar brother, who died at 2 months old from cardiac anomalies in the form of single ventricle without being subjected to further investigations. Chromosomal analysis of the parents was normal. Karyotyping for the 2 patients and their parents was confirmed by fluorescence in situ hybridization analysis (FISH) using whole chromosome painting probes for 11 (WCP 11). Relevant investigations for both sibs showed mild thrombocytopenia with normal platelets morphology and striking periventricular demyelination on neuroimaging. Inguinal small testicles as well as focal epileptiform dysfunction were recorded in the male patient only. Abdominal ultrasound, hearing test, and DEXA scan were normal in both patients. Due to of the presence of apparently 3 affected offspring and normal parental karyotypes, an inherited predisposition was highly suspected. The large size of the distal deleted 11q segment in our patients support the recent hypothesis, that Jacobsen syndrome is a chromosomal deletion syndrome with genetic predisposition, due to expansion of p(CCG)n trinucleotide in the folate-sensitive fragile site FRA11B, at breakpoint 11q23.3. In conclusion, identification and further delineation of more similar patients will contribute to understanding the genetic basis of the 11q phenotype.

  6. GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies.

    Science.gov (United States)

    Capela de Matos, Roberto R; Ney Garcia, Daniela R; Cifoni, Elaine; Othman, Moneeb A K; Tavares de Souza, Mariana; Carboni, Edna K; Ferreira, Gerson M; Liehr, Thomas; Ribeiro, Raul C; M Silva, Maria Luiza

    2017-01-01

    Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age. In this age group, structural rearrangements involving the KMT2A gene occur in about 58% of the cases. Among them, the translocation t(9;11)(p22;q23), KMT2A-MLLT3, is the most common abnormality accounting for approximately 22% of KMT2A rearrangements in infant AML cases. Here, we describe a 7- month-old girl with a history of fever and severe diarrhea, and a physical examination remarkable for pallor and hepatosplenomegaly. A novel complex hyperdiploid karyotype 53,XX,+X,+6,t(9;11)(p21.3;q23.3),+der(9)t(9;11)(p21.3;q23.3),dup(13)(q31q34),+14,+19,+21,+22 was characterized by high-resolution molecular cytogenetic approaches. Fluorescence in situ hybridization, multiplex-FISH, and multicolor chromosome banding were applied, revealing 2 reverse MLLT3-KMT2A fusions and a duplication of the GAS6 oncogene. Our work suggests that molecular cytogenetic studies are crucial for the planning of a proper strategy for risk therapy in AML infants with hyperdiploid karyotypes. © 2017 S. Karger AG, Basel.

  7. Evolutionary Games and Social Conventions

    DEFF Research Database (Denmark)

    Hansen, Pelle Guldborg

    2007-01-01

    Some thirty years ago Lewis published his Convention: A Philosophical Study (Lewis, 2002). This laid the foundation for a game-theoretic approach to social conventions, but became more famously known for its seminal analysis of common knowledge; the concept receiving its canonical analysis...... in Aumann (1976) and which, together with the assumptions of perfect rationality, came to be defining of classical game theory. However, classical game theory is currently undergoing severe crisis as a tool for exploring social phenomena; a crisis emerging from the problem of equilibrium selection around......-defined metaphors of individual learning and social imitation processes, from which a revised theory of convention may be erected (see Sugden 2004, Binmore 1993 and Young 1998). This paper makes a general argument in support of the evolutionary turn in the theory of convention by a progressive exposition of its...

  8. Towards a Theory of Convention

    DEFF Research Database (Denmark)

    Hansen, Pelle Guldborg

    2006-01-01

    theory. Like for the study of common knowledge much has happened in this latter field since then. The theory of convention has been developed and extended so as to include multiple types as well as a basis for the study of social norms. However, classical game theory is currently undergoing severe crisis...... as a tool for understanding and explaining social phenomena; a crisis emerging from the problem of equilibrium selection around which any theory of convention must revolve. The so-called evolutionary turn in game theory marks a transition from the classical assumptions of rationality and common knowledge......Some thirty years ago Lewis published his Convention: A philosophical Study (Lewis 1969). Besides exciting the logical community by providing the seminal analysis work on common knowledge, it also laid the foundations for the formal approach to the study of social conventions by means of game...

  9. Urodinâmica convencional versus cistometria simplificada para caracterização da incontinência urinária feminina Conventional urodynamics versus simplified cystometry for characterization of female urinary incontinence

    Directory of Open Access Journals (Sweden)

    Paulo Roberto Kawano

    2004-05-01

    patients had been submitted to physical and gynecological examinations. A conventional urodynamic study had been made using a Dynograph R-611 recorder. Simplified cystometry had used a saline tube with "Y" connector, connected to a Foley 14 Fr catheter, which allowed measurement of intra-vesical pressure at the same time as physiological saline infusion. The following parameters were analyzed: residual volume, bladder capacity, complacency, involuntary detrusor contractions, and abdominal leak-point pressure. The Pearson test of agreement and the Wilcoxon signed rank test were used to verify the concordance between related samples, with p < 0,05. RESULTS: the average age was 50 years old (28-70. Concordance between studies for stress urinary losses was 67%, and for detrusor involuntary contractions, 90%. The average residual volume was significantly different: by simplified cystometry it was 16.8 ml versus 2 ml by conventional urodynamics (p < 0.01. The average maximum vesical capacity by urodynamic study was 440.5 ml, and by simplified cystometry, 387 ml (p < 0.05. Vesical complacency was on average, significantly larger in simplified cystometry (43.0 ml/cmH2O than in the urodynamic study (31.5 ml/cmH2O, with p < 0.01. CONCLUSION: preliminary evaluations suggest that the urogynecologic propedeutic associated with cystometry is an option to be considered in the clinical and preoperative assessment of patients with SUI instead of conventional urodynamics, particularly when the latter is not available. Simplified cystometry is an accessible exam that grants comparable results for the detection of involuntary detrusor contractions and for the identification of urinary loss, providing the examiner with trustworthy data on vesical behavior.

  10. Comparative Cytogenetics between Two Important Songbird, Models: The Zebra Finch and the Canary.

    Science.gov (United States)

    Dos Santos, Michelly da Silva; Kretschmer, Rafael; Frankl-Vilches, Carolina; Bakker, Antje; Gahr, Manfred; O Brien, Patricia C M; Ferguson-Smith, Malcolm A; de Oliveira, Edivaldo H C

    2017-01-01

    Songbird species (order Passeriformes, suborder Oscines) are important models in various experimental fields spanning behavioural genomics to neurobiology. Although the genomes of some songbird species were sequenced recently, the chromosomal organization of these species is mostly unknown. Here we focused on the two most studied songbird species in neuroscience, the zebra finch (Taeniopygia guttata) and the canary (Serinus canaria). In order to clarify these issues and also to integrate chromosome data with their assembled genomes, we used classical and molecular cytogenetics in both zebra finch and canary to define their chromosomal homology, localization of heterochromatic blocks and distribution of rDNA clusters. We confirmed the same diploid number (2n = 80) in both species, as previously reported. FISH experiments confirmed the occurrence of multiple paracentric and pericentric inversions previously found in other species of Passeriformes, providing a cytogenetic signature for this order, and corroborating data from in silico analyses. Additionally, compared to other Passeriformes, we detected differences in the zebra finch karyotype concerning the morphology of some chromosomes, in the distribution of 5S rDNA clusters, and an inversion in chromosome 1.

  11. Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy

    Directory of Open Access Journals (Sweden)

    Kohei Kasahara

    2016-01-01

    Full Text Available We report a case of acute myeloid leukemia (AML with two cytogenetically unrelated clones. The patient was a 45-year-old male who was diagnosed with acute monoblastic leukemia (AMoL. Initial G-band analysis showed 51,XY,+6,+8,inv(9(p12q13c,+11,+13,+19[12]/52,idem,+Y[8], but G-band analysis after induction therapy showed 45,XY,-7,inv(9(p12q13c[19]/46,XY,inv(9(p12q13c[1]. Retrospective FISH analysis revealed a cryptic monosomy 7 clone in the initial AML sample. The clone with multiple trisomies was eliminated after induction therapy and never recurred, but a clone with monosomy 7 was still detected in myelodysplastic marrow with a normal blast percentage. Both clones were successfully eliminated after related peripheral blood stem cell transplantation, but the patient died of relapsed AML with monosomy 7. We concluded that one clone was de novo AMoL with chromosome 6, 8, 11, 13, and 19 trisomy and that the other was acute myeloid leukemia with myelodysplasia-related changes (AML-MRC with chromosome 7 monosomy showing different responses to chemotherapy. Simultaneous onset of cytogenetically unrelated hematological malignancies that each have a different disease status is a rare phenomenon but is important to diagnose for a correct understanding of the disease status and for establishing an appropriate treatment strategy.

  12. Comparative Cytogenetics between Two Important Songbird, Models: The Zebra Finch and the Canary

    Science.gov (United States)

    dos Santos, Michelly da Silva; Kretschmer, Rafael; Frankl-Vilches, Carolina; Bakker, Antje; Gahr, Manfred; O´Brien, Patricia C. M.; Ferguson-Smith, Malcolm A.

    2017-01-01

    Songbird species (order Passeriformes, suborder Oscines) are important models in various experimental fields spanning behavioural genomics to neurobiology. Although the genomes of some songbird species were sequenced recently, the chromosomal organization of these species is mostly unknown. Here we focused on the two most studied songbird species in neuroscience, the zebra finch (Taeniopygia guttata) and the canary (Serinus canaria). In order to clarify these issues and also to integrate chromosome data with their assembled genomes, we used classical and molecular cytogenetics in both zebra finch and canary to define their chromosomal homology, localization of heterochromatic blocks and distribution of rDNA clusters. We confirmed the same diploid number (2n = 80) in both species, as previously reported. FISH experiments confirmed the occurrence of multiple paracentric and pericentric inversions previously found in other species of Passeriformes, providing a cytogenetic signature for this order, and corroborating data from in silico analyses. Additionally, compared to other Passeriformes, we detected differences in the zebra finch karyotype concerning the morphology of some chromosomes, in the distribution of 5S rDNA clusters, and an inversion in chromosome 1. PMID:28129381

  13. Molecular cytogenetic identification of a wheat-Thinopyrum ponticum translocation line resistant to powdery mildew.

    Science.gov (United States)

    He, Fang; Bao, Yinguang; Qi, Xiaolei; Ma, Yingxue; Li, Xingfeng; Wang, Honggang

    2017-03-01

    Thinopyrum ponticum (2n = 70) serves as a valuable gene pool for wheat improvement. Line SN0224, derived from crosses between Th. ponticum and the common wheat cultivar Yannong15, was identified in the present study. Cytogenetic observations showed that SN0224 contains 42 chromosomes in the root-tip cells and 21 bivalents in the pollen mother cells, thereby demonstrating its cytogenetic stability. Genomic in situ hybridization, probed with the total genomic DNA of Th. ponticum, produced hybridization signals in the distal region of two wheat chromosome arms. After inoculation with the Blumeria graminis f. sp. tritici (Bgt) isolates, SN0224 exhibited immunity. Segregation in F1s and F2s from the cross SN0224/cv. Huixianhong indicated that SN0224 carries a single dominant gene for powdery mildew (Pm) resistance, which was temporarily designated PmSn0224. Three markers Barc212, Xwmc522 and Xbarc1138 were detected to be linked with PmSn0224. Based on the locations of the markers, PmSn0224 was located on the chromosome 2A. None of the three markers above is linked with the previously reported PM resistance genes on chromosome 2A, and none of the previously reported PM resistance genes on chromosome 2A is related to Th. ponticum. Therefore, PmSn0224 is likely a novel gene putatively from Th. ponticum.

  14. Cytogenetics of Aspidogaster limacoides (Trematoda, Aspidogastrea): karyotype, spermatocyte division, and genome size.

    Science.gov (United States)

    Bombarová, Marta; Špakulová, Marta; Kello, Martin; Nguyen, Petr; Bazsalovicsová, Eva; Králová-Hromadová, Ivica

    2015-04-01

    A detailed cytogenetic analysis of the aspidogastrean fluke Aspidogaster limacoides revealed a karyotype consisting of six medium-sized chromosome pairs. The first and the last pairs were two-armed while four remaining were one-armed; 2n = 12, n = 1 m + 1 m - sm + 4a. Fluorescence in situ hybridization with 18S ribosomal DNA (rDNA) probe detected a single cluster of ribosomal genes (NOR) located in pericentromeric regions of the long arms of the third chromosome pair in a site of secondary constriction apparent in meiotic prophase, especially in diplotene. The silver nitrate staining showed only a single active NOR site on one of homologous chromosomes in the majority of spermatogonia and spermatocyte divisions. A course of meiosis corresponded to standard schemes. The nucleolus was apparent in early meiotic spermatocytes and disintegrated by the end of pachytene. For the first time in Aspidogastrea, the genome size was determined. The flow cytometry showed 1.21 pg DNA per haploid nucleus in A. limacoides which is in accordance with relatively low genome sizes of other flukes and tapeworms (Neodermata). A comparison of cytogenetic data available to date in the fluke sister groups Aspidogastrea and Digenea suggests that the lower chromosome number of Aspidogastrea might represent an ancestral condition and their split might have been accompanied by an increase in chromosome number via either chromosome fissions or paleopolyploidy.

  15. Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia

    Science.gov (United States)

    Crolla, John A.; van Heyningen, Veronica

    2002-01-01

    Seventy-seven patients with aniridia, referred for cytogenetic analysis predominantly to assess Wilms tumor risk, were studied by fluorescence in situ hybridization (FISH), through use of a panel of cosmids encompassing the aniridia-associated PAX6 gene, the Wilms tumor predisposition gene WT1, and flanking markers, in distal chromosome 11p13. Thirty patients were found to be chromosomally abnormal. Cytogenetically visible interstitial deletions involving 11p13 were found in 13 patients, 11 of which included WT1. A further 13 patients had cryptic deletions detectable only by FISH, 3 of which included WT1. Six of these, with deletions aniridia, genitourinary abnormalities, and mental retardation) region, and three balanced rearrangements with what appear to be position effect breakpoints 3′ of PAX6: (a) a t(7;11) with the 11p13 breakpoint ∼30 kb downstream of PAX6, (b) a dir ins(12;11) with a breakpoint >50 kb from PAX6, and (c) an inv(11)(p13q13) with a breakpoint >75 kb downstream of PAX6. The proportion and spectrum of chromosome anomalies in familial (4/14, or 28.5%) and sporadic (26/63, or 41%) cases are not significantly different. An unexpectedly high frequency of chromosomal rearrangements is associated with both sporadic and familial aniridia in this cohort. PMID:12386836

  16. A comprehensive whole-genome integrated cytogenetic map for the alpaca (Lama pacos).

    Science.gov (United States)

    Avila, Felipe; Baily, Malorie P; Perelman, Polina; Das, Pranab J; Pontius, Joan; Chowdhary, Renuka; Owens, Elaine; Johnson, Warren E; Merriwether, David A; Raudsepp, Terje

    2014-01-01

    Genome analysis of the alpaca (Lama pacos, LPA) has progressed slowly compared to other domestic species. Here, we report the development of the first comprehensive whole-genome integrated cytogenetic map for the alpaca using fluorescence in situ hybridization (FISH) and CHORI-246 BAC library clones. The map is comprised of 230 linearly ordered markers distributed among all 36 alpaca autosomes and the sex chromosomes. For the first time, markers were assigned to LPA14, 21, 22, 28, and 36. Additionally, 86 genes from 15 alpaca chromosomes were mapped in the dromedary camel (Camelus dromedarius, CDR), demonstrating exceptional synteny and linkage conservation between the 2 camelid genomes. Cytogenetic mapping of 191 protein-coding genes improved and refined the known Zoo-FISH homologies between camelids and humans: we discovered new homologous synteny blocks (HSBs) corresponding to HSA1-LPA/CDR11, HSA4-LPA/CDR31 and HSA7-LPA/CDR36, and revised the location of breakpoints for others. Overall, gene mapping was in good agreement with the Zoo-FISH and revealed remarkable evolutionary conservation of gene order within many human-camelid HSBs. Most importantly, 91 FISH-mapped markers effectively integrated the alpaca whole-genome sequence and the radiation hybrid maps with physical chromosomes, thus facilitating the improvement of the sequence assembly and the discovery of genes of biological importance. © 2015 S. Karger AG, Basel.

  17. Cytogenetic changes in the liver of progeny of irradiated male rats

    Energy Technology Data Exchange (ETDEWEB)

    Kropacova, K.; Slovinska, L.; Misurova, E. [P.J. Safarik Univ., Kosice (Slovakia)

    2002-06-01

    The transgenerational transmission of radiation damage of rat genom was studied on the basis of cytogenetic changes in somatic cells (hepatocytes). It was found, that the irradiation of rat males with dose of 3 Gy of gamma radiation caused latent cytogenetic damage to the liver, which was expressed during the course of an induced proliferation of hepatocytes (by partial hepatectomy) by lower proliferative activity and a high frequency of chromosomal aberrations. In the progeny of irradiated males (in the F{sub 1} generation), the radiation damage to DNA was manifested by similar changes, i.e. by lower proliferation activity and increase in ''spontaneous'' chromosomal aberration occurrence in liver regeneration after partial hepatectomy. Irradiating the progeny of irradiated males (the total radiation load of the progeny being 3 Gy+3 Gy) caused slighter changes in compared with irradiating the progeny of non-irradiated control males (the total radiation load of the progeny being 0 Gy+3 Gy), which suggests some kind of adaptive response, which was also found in other experimental systems and parameters. An analogous course of RNA and DNA quantitative changes in the liver of the F{sub 0} and F{sub 1} generations of rats confirms the partial transmission of radiation damage of genom to the progeny. (author)

  18. Cytogenetic effects of radioiodine therapy: a 20-year follow-up study

    Energy Technology Data Exchange (ETDEWEB)

    Livingston, Gordon K. [Oak Ridge Institute for Science and Education, Radiation Emergency Assistance Center/Training Site, Oak Ridge, TN (United States); Khvostunov, Igor K. [Medical Radiological Research Center, Obninsk, Kaluga Region (Russian Federation); Gregoire, Eric [Institut de Radioprotection et de Surete Nucleaire, PRP-HOM/SRBE/LDB, BP 17, Fontenay aux roses Cedex (France); Barquinero, Joan-Francesc [Universtitat Autonoma de Barcelona, Facultat de Biociencies, Cerdanyola del Valles (Spain); Shi, Lin; Tashiro, Satoshi [Hiroshima University, Department of Cellular Biology, Research Institute for Radiation Biology and Medicine, Hiroshima (Japan)

    2016-05-15

    The purpose of this study was to compare cytogenetic data in a patient before and after treatment with radioiodine to evaluate the assays in the context of biological dosimetry. We studied a 34-year-old male patient who underwent a total thyroidectomy followed by ablation therapy with {sup 131}I (19.28 GBq) for a papillary thyroid carcinoma. The patient provided blood samples before treatment and then serial samples at monthly intervals during the first year period and quarterly intervals for 5 years and finally 20 years after treatment. A micronucleus assay, dicentric assay, FISH method and G-banding were used to detect and measure DNA damage in circulating peripheral blood lymphocytes of the patient. The results showed that radiation-induced cytogenetic effects persisted for many years after treatment as shown by elevated micronuclei and chromosome aberrations as a result of exposure to {sup 131}I. At 5 years after treatment, the micronucleus count was tenfold higher than the pre-exposure frequency. Shortly after the treatment, micronucleus counts produced a dose estimate of 0.47 ± 0.09 Gy. The dose to the patient evaluated retrospectively using FISH-measured translocations was 0.70 ± 0.16 Gy. Overall, our results show that the micronucleus assay is a retrospective biomarker of low-dose radiation exposure. However, this method is not able to determine local dose to the target tissue which in this case was any residual thyroid cells plus metastases of thyroidal origin. (orig.)

  19. Employment of Oligodeoxynucleotide plus Interleukin-2 Improves Cytogenetic Analysis in Splenic Marginal Zone Lymphoma

    Directory of Open Access Journals (Sweden)

    Antonella Bardi

    2011-01-01

    Full Text Available To compare the efficiency of novel mitogenic agents and traditional mitosis inductors, 18 patients with splenic marginal zone lymphoma (SMZL were studied. Three cultures using oligodeoxynucleotide (ODN plus interleukin-2 (IL-2, or TPA, or LPS were setup in each patient. Seventeen/18 cases with ODN+IL2 had moderate/good proliferation (94,4% as compared with 10/18 cases with TPA and LPS (55% (P=.015; 14/18 (77,7% cases with ODN+IL2 had sufficient good quality of banding as compared with 8/18 cases (44,4% with TPA and LPS. The karyotype could be defined from ODN+IL2-stimulated cultures in all 18 patients, 14 of whom (77,7% had a cytogenetic aberration, whereas clonal aberrations could be documented in 9 and in 3 cases by stimulation with LPS and TPA, respectively. Recurrent chromosome aberrations in our series were represented by aberrations of chromosome 14q in 5 patients, by trisomy 12 and 7q deletion in 4 cases each, and by abnormalities involving 11q and 13q in two cases each. These findings show that stimulation with ODN+IL2 offers more mitotic figures of better quality and results in an increased rate of clonal aberrations in SMZL, making this method ideal for prospective studies aiming at the definition of the prognostic impact of cytogenetic aberrations in this disorder.

  20. [Cytogenetic analysis of the Bloom syndrome. A study of the exchange-break relationship].

    Science.gov (United States)

    Jalbert, P; Leroux, D; Sele, B; Jalbert, H; Pison, H; Augusseau, S

    1983-01-01

    Cytogenetic study of a case of Bloom's syndrome (number 46 of the international registry) confirms the excess of exchanges in all cellular types with the exception of a minority of lymphocytes and of two lymphoblastoid cell lines. These exchanges are produced in an X or U fashion between sister chromatids or between homologous chromatids and produce both simple and complex figures for which symmetry is the common feature. Some of these structures are rearranged secondarily, producing centric or acentric fragments and marker chromosomes. Triradial configurations are considered to be the result of exchanges rather than of partial endoreduplication. Chromatid and chromosome breaks are interpreted to result from incomplete exchanges. It is suggested that the general propensity for exchanges is the primary event responsible directly or indirectly for the cytogenetic observations rather than a defect in one of the DNA-repair mechanisms. No increase in mitomycin C sensitivity appears in vitro. The excess of SCEs is partially correlated by contact in vitro with normal cells and to a lesser degree by the culture medium in which the cells were grown.

  1. The cytogenetic theory of the pathogenesis of human adult male germ cell tumors. Review article.

    Science.gov (United States)

    Chaganti, R S; Houldsworth, J

    1998-01-01

    Human male germ cell tumors (GCTs) represent a biological paradox because, in order to develop into a pluripotential tumor, a germ cell destined to a path of limited or no proliferation must acquire the potential for unlimited proliferation. In addition, it must acquire the ability to elicit embryonal differentiation patterns without the reciprocal inputs from fertilization and the imprinting-associated genomic changes which are a part of normal embryonal development. Although much speculated about, the genetic mechanisms underlying these properties of male GCTs remain enigmatic. Recent cytogenetic and molecular genetic analyses of these tumors are providing new insights and new testable hypotheses. Based on our recent work, we propose two such hypotheses. One relates to the mechanism of germ cell transformation and germ cell tumor development. We suggest that the invariable 12p amplification noted as early as in carcinoma in situ/intratubular germ cell neoplasia (CIS/ITGCN) lesions leads to deregulated overexpression of cyclin D2, a cell cycle G1/S checkpoint regulator with oncogeneic potential. Such overexpression reinitiates the cell cycle. We visualize this happening during the pachytene stage of meiosis through aberrant recombinational events which lead to 12p amplification. The other hypothesis relates to the origin of primary extragonadal GCTs. By comparing cytogenetic changes in primary mediastinal versus gonadal lesions, we propose that, in contrast to long-standing speculation that primary extra-gonadal tumors arise from embryonally misplaced primordial germ cells, these lesions arise from migration of transformed gonadal germ cells.

  2. Functional characterization of the nucleoporin CAN and CAN-derived leukemia-specific fusion proteins

    NARCIS (Netherlands)

    J.M. Boer (Judith)

    1997-01-01

    textabstractChromosome translocations are cytogenetically visible genetic abnormalities that are often associated with specific tumors. Characterization of the genes at the chromosome breakpoints can give insights into the processes that transform normal cells to tumor cells. The (6;9)

  3. Characterization of the Weed Seed Bank in Zero and Conventional Tillage in Central Chile Caracterización del Banco de Semillas de Malezas en Labranza Cero y Convencional en Chile Central

    Directory of Open Access Journals (Sweden)

    Rosa Peralta Caroca

    2011-03-01

    Full Text Available We studied the abundance, species composition, and depth distribution of the weed seed bank under no-tillage (NT and conventional tillage (CT at two sites, A and B. Soil samples were taken at three soil depths (0-2, 2-5, and 5-15 cm. Germinated, dormant, and total seeds were counted. The total number of seeds was higher (p ≤ 0.05 under CT treatment at the two sites (CTA = 5175 seeds m-2, NTA = 3250 seeds m-2, CTB = 33770 m-2, and NTB = 22437 seeds m-2. The number of viable, dormant, and germinated seeds was also higher (p ≤ 0.05 in CT at the two sites. The percentage of viable seeds was low with 37% (CTA, 34% (CTB, 21% (NTA, and 8% (NTB. Viable seeds of Chenopodium album L. (CHEAL dominated in the two trials with 67% (CTA, 20% (NTA, 96% (CTB, and 77% (NTB. In a principal component analysis, PC1 separated viable seeds of weed species according to tillage and PC2 separated weed species according to sites. Poa annua L. was the most important species associated with NT followed by Cichorium intybus L., and Sonchus while Euphorbia helioscopia L. and Echinochloa crus-galli (L. P. Beauv. were associated with CT.Se estudió la abundancia, composición de especies y distribución en profundidad del banco de semilla de maleza en labranza convencional (CT y cero labranza (NT en dos sitios, A y B. Se tomaron muestras a tres profundidades de suelo (0-2, 2-5 y 5-15 cm. Se contaron semillas germinadas, dormantes y totales. La cantidad total de semillas fue significativamente mayor (p ≤ 0,05 para ambos sitios (CTA = 5175 semillas m-2, NTA = 3250 semillas m-2, CTB = 33770 semillas m-2 y NTB = 22437 semillas m-2. La cantidad de semillas viables, dormantes y germinadas fue significativamente mayor (p ≤ 0.05 para ambos ensayos en CT que en NT. La mayor proporción de las semillas viables correspondió a germinadas. Se observó un bajo porcentaje de semillas viables 37% (CTA, 34% (CTB, 21% (NTA and 8% (NTB. Las semillas viables de Chenopodium album L. (CHEAL

  4. Approaches for cytogenetic and molecular analyses of small flow-sorted cell populations from childhood leukemia bone marrow samples

    DEFF Research Database (Denmark)

    Obro, Nina Friesgaard; Madsen, Hans O.; Ryder, Lars Peter

    2011-01-01

    defined cell populations with subsequent analyses of leukemia-associated cytogenetic and molecular marker. The approaches described here optimize the use of the same tube of unfixed, antibody-stained BM cells for flow-sorting of small cell populations and subsequent exploratory FISH and PCR-based analyses....

  5. Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones

    Energy Technology Data Exchange (ETDEWEB)

    Bray-Ward, P.; Menninger, J.; Lieman, J. [Yale Univ. School of Medicine, New Haven, CT (United States)] [and others

    1996-02-15

    This article discusses the genetic mapping of over 950 yeast artificial chromosome (YAC) clones on human chromosomes. This integration of the cytogenetic, genetic and physical maps of the human genome was accomplished using fluorescence in situ hybridization (FISH) mapping and the CEPH library of YAC clones. 27 refs., 2 figs., 1 tab.

  6. Rare cytogenetic abnormalities and alteration of microRNAs in acute myeloid leukemia and response to therapy

    Directory of Open Access Journals (Sweden)

    Mohammad Shahjahani

    2015-03-01

    Full Text Available Acute myeloid leukemia (AML is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with.

  7. Rare Cytogenetic Abnormalities and Alteration of microRNAs in Acute Myeloid Leukemia and Response to Therapy

    Science.gov (United States)

    Shahjahani, Mohammad; Khodadi, Elahe; Seghatoleslami, Mohammad; Asl, Javad Mohammadi; Golchin, Neda; Zaieri, Zeynab Deris

    2015-01-01

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs) in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with. PMID:26779308

  8. Rare Cytogenetic Abnormalities and Alteration of microRNAs in Acute Myeloid Leukemia and Response to Therapy.

    Science.gov (United States)

    Shahjahani, Mohammad; Khodadi, Elahe; Seghatoleslami, Mohammad; Asl, Javad Mohammadi; Golchin, Neda; Zaieri, Zeynab Deris; Saki, Najmaldin

    2015-02-10

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs) in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with.

  9. The impact of additional cytogenetic abnormalities at diagnosis and during therapy with tyrosine kinase inhibitors in Chronic Myeloid Leukaemia

    Science.gov (United States)

    Crisan, AM; Coriu, D; Arion, C; Colita, A; Jardan, C

    2015-01-01

    Background: Chronic Myeloid Leukemia’s (CML) treatment was optimized since the development of tyrosine kinase inhibitors (TKI) and an increased overall survival during TKI was noticed. During the TKI era, protocols for assessing response and resistance to treatment were developed. Additional chromosomal abnormalities (ACAs) are strongly associated with disease progression but their prognostic impact and influence on treatment response are yet to be defined. The aim of this study was to analyze the impact of ACAs on time to achieve complete cytogenetic response (CCyR), treatment and overall survival. Materials and methods: Since 2005 until 2013, the data from the Hematology and Bone Marrow Transplantation Department of Fundeni Clinical Institute was collected. In this observational retrospective single centre study, 28 CML patients with ACAs at diagnosis and during TKI treatment were included. Results: From ACAs at diagnosis group, the most frequent major route ACAs were trisomy 8, trisomy 19 and second Philadelphia (Ph) chromosome and the most frequent minor route ACAs were monosomies and structural abnormalities (inversions and translocations). From the ACAs during the TKI group, the most frequent major route cytogenetic abnormalities in Ph positive and negative cells were trisomy 8, trisomy 19 and second Ph chromosome and the most frequent minor route cytogenetic abnormalities in Ph positive and negative cells were marker chromosomes and structural abnormalities (inversions, translocations and dicentric chromosomes). Conclusions: In both groups, the time to CCyR was longer and long-term results were inferior in comparison with standard patients but the differences were not significant and in accordance to published data. The 12 months follow-up after the study’s end showed that 26 patients were alive and in long-term CCyR and 2 deaths were reported. Abbreviations: CML = Chronic Myeloid Leukemia, BCR-ABL1 = Break Cluster Region - Abelson gene, TKI = tyrosine

  10. The impact of additional cytogenetic abnormalities at diagnosis and during therapy with tyrosine kinase inhibitors in Chronic Myeloid Leukaemia.

    Science.gov (United States)

    Crisan, A M; Coriu, D; Arion, C; Colita, A; Jardan, C

    2015-01-01

    Chronic Myeloid Leukemia's (CML) treatment was optimized since the development of tyrosine kinase inhibitors (TKI) and an increased overall survival during TKI was noticed. During the TKI era, protocols for assessing response and resistance to treatment were developed. Additional chromosomal abnormalities (ACAs) are strongly associated with disease progression but their prognostic impact and influence on treatment response are yet to be defined. The aim of this study was to analyze the impact of ACAs on time to achieve complete cytogenetic response (CCyR), treatment and overall survival. Since 2005 until 2013, the data from the Hematology and Bone Marrow Transplantation Department of Fundeni Clinical Institute was collected. In this observational retrospective single centre study, 28 CML patients with ACAs at diagnosis and during TKI treatment were included. From ACAs at diagnosis group, the most frequent major route ACAs were trisomy 8, trisomy 19 and second Philadelphia (Ph) chromosome and the most frequent minor route ACAs were monosomies and structural abnormalities (inversions and translocations). From the ACAs during the TKI group, the most frequent major route cytogenetic abnormalities in Ph positive and negative cells were trisomy 8, trisomy 19 and second Ph chromosome and the most frequent minor route cytogenetic abnormalities in Ph positive and negative cells were marker chromosomes and structural abnormalities (inversions, translocations and dicentric chromosomes). In both groups, the time to CCyR was longer and long-term results were inferior in comparison with standard patients but the differences were not significant and in accordance to published data. The 12 months follow-up after the study's end showed that 26 patients were alive and in long-term CCyR and 2 deaths were reported. CML = Chronic Myeloid Leukemia, BCR-ABL1 = Break Cluster Region - Abelson gene, TKI = tyrosine kinase inhibitor treatment, ACAs = additional cytogenetic abnormalities, CCy

  11. Genome size, cytogenetic data and transferability of EST-SSRs markers in wild and cultivated species of the genus Theobroma L. (Byttnerioideae, Malvaceae.

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    Rangeline Azevedo da Silva

    Full Text Available The genus Theobroma comprises several trees species native to the Amazon. Theobroma cacao L. plays a key economic role mainly in the chocolate industry. Both cultivated and wild forms are described within the genus. Variations in genome size and chromosome number have been used for prediction purposes including the frequency of interspecific hybridization or inference about evolutionary relationships. In this study, the nuclear DNA content, karyotype and genetic diversity using functional microsatellites (EST-SSR of seven Theobroma species were characterized. The nuclear content of DNA for all analyzed Theobroma species was 1C = ~ 0.46 pg. These species presented 2n = 20 with small chromosomes and only one pair of terminal heterochromatic bands positively stained (CMA+/DAPI- bands. The small size of Theobroma ssp. genomes was equivalent to other Byttnerioideae species, suggesting that the basal lineage of Malvaceae have smaller genomes and that there was an expansion of 2C values in the more specialized family clades. A set of 20 EST-SSR primers were characterized for related species of Theobroma, in which 12 loci were polymorphic. The polymorphism information content (PIC ranged from 0.23 to 0.65, indicating a high level of information per locus. Combined results of flow cytometry, cytogenetic data and EST-SSRs markers will contribute to better describe the species and infer about the evolutionary relationships among Theobroma species. In addition, the importance of a core collection for conservation purposes is highlighted.

  12. Genome size, cytogenetic data and transferability of EST-SSRs markers in wild and cultivated species of the genus Theobroma L. (Byttnerioideae, Malvaceae).

    Science.gov (United States)

    da Silva, Rangeline Azevedo; Souza, Gustavo; Lemos, Lívia Santos Lima; Lopes, Uilson Vanderlei; Patrocínio, Nara Geórgia Ribeiro Braz; Alves, Rafael Moysés; Marcellino, Lucília Helena; Clement, Didier; Micheli, Fabienne; Gramacho, Karina Peres

    2017-01-01

    The genus Theobroma comprises several trees species native to the Amazon. Theobroma cacao L. plays a key economic role mainly in the chocolate industry. Both cultivated and wild forms are described within the genus. Variations in genome size and chromosome number have been used for prediction purposes including the frequency of interspecific hybridization or inference about evolutionary relationships. In this study, the nuclear DNA content, karyotype and genetic diversity using functional microsatellites (EST-SSR) of seven Theobroma species were characterized. The nuclear content of DNA for all analyzed Theobroma species was 1C = ~ 0.46 pg. These species presented 2n = 20 with small chromosomes and only one pair of terminal heterochromatic bands positively stained (CMA+/DAPI- bands). The small size of Theobroma ssp. genomes was equivalent to other Byttnerioideae species, suggesting that the basal lineage of Malvaceae have smaller genomes and that there was an expansion of 2C values in the more specialized family clades. A set of 20 EST-SSR primers were characterized for related species of Theobroma, in which 12 loci were polymorphic. The polymorphism information content (PIC) ranged from 0.23 to 0.65, indicating a high level of information per locus. Combined results of flow cytometry, cytogenetic data and EST-SSRs markers will contribute to better describe the species and infer about the evolutionary relationships among Theobroma species. In addition, the importance of a core collection for conservation purposes is highlighted.

  13. cytogenetic effects in populations of amphibians Rana arvalis living on the radio-contaminated area

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    Yushkova, E.; Bodnar, I.; Zainullin, V. [Institute of Biology of Komi Scientific Centre of the Ural Branch of the Russian Academy of Sciences (Russian Federation)

    2014-07-01

    The study of the features reactions of the animals a differing complicated individual development (metamorphosis) and living in conditions of radioactive contamination is an important trend in the modern radio-ecology. This information is of interest not only from the point of view of detection the mechanisms of radiobiological effects (hyper-radiosensitivity, hormesis, radio-adaptation, etc.) but also viewpoint of predicting delayed radiation effects that is necessary at account the normalization of technogeneous loading on natural ecosystems. An assessment of the level of cytogenetic damages (single-strand and double-strand DNA breaks) in the blood cells of tadpoles of Rana arvalis living in areas contaminated of wastes radium production (Russia, Komi Republic, Ukhta district) was conducted. Using this biological matter as a bioindicator due to the fact that development amphibian is carried out by metamorphosis and includes larval stage. At this stage post-embryonic development of an individual are the most sensitive to anthropogenic impact. To exclude the effects of other factors (temperature, age-specific peculiarities, overpopulation, etc.) on the formation of DNA damages from the studied reservoirs were taken laying eggs of amphibians (12-15 egg laying from the area) which afterwards are contain in strictly controlled laboratory conditions using water, belt silt, plants of native pond. The reaction of amphibians on the contamination was assessed by the level of DNA damage by method Comet assay was determined. With each egg laying were selected for 7 even-aged individuals. Total for cytogenetic analysis was used 189 individuals. It is shown that in animals that develop on the radio-contaminated area the level of single-strand DNA (alkaline pH version of the Comet assay) was higher than in the control area. According an estimate to the level of double-strand DNA (neutral pH version of the Comet assay) significant differences not was found. The high variability

  14. [Immunophenotypes, cytogenetics and clinical features of 192 patients with acute myeloid leukemia].

    Science.gov (United States)

    Tong, Hai-Xia; Wang, Hui-Han; Zhang, Ji-Hong; Liu, Zhuo-Gang; Zheng, Ying-Chun; Wang, Yun-Xiu

    2009-10-01

    The objective of this study was to investigate the immunophenotypic subtype profiles of 192 patients with acute myeloid leukemia (AML) and its association to cytogenetics and clinical features. Immunophenotyping of 192 patients was performed by flow cytometry using a panel of monoclonal antibodies. The karyotypes in 125 out of 192 cases were analyzed by G-banding technology. The results showed that CD33, CD13, myeloperoxidase (MPO) and CD117 were the most commonly expressed antigens in AML. CD117 expressed in 84.6% of AML-M3 cases. A combination of intensive autofluorescence, both CD34- and HLA-DR-, and high expression of CD13, CD33 and MPO had significant value for AML-M3 diagnosis. CD14 expressed only in AML-M4 and AML-M5, and both intensive positivity of CD64 and CD15 with high expression of HLA-DR may suggest great possibility for diagnosis of AML-M5. Lymphoid marker expression was documented in 47.9% of the 192 AML cases. CD56 (26.0%) and CD7 (20.8%) were the most commonly expressed lymphoid markers in AML patients, followed by CD19 (9.9%) and CD2 (7.3%). Abnormal karyotypes were detected in 76 out of 125 cases (60.8%). Correlation test showed that t(8;21) was found only in 17 cases of AML-M2 and strongly associated with the individual or combinational expressions of CD15/CD19/CD56. And 28 cases of t(15;17) were found in AML-M3; 2 cases of inv(16) were found in AML-M4EO. Higher CD34 positivity was found in LymAg+ group (77.2%) than that in LymAg- group (48.0%). It is concluded that immunophenotype analysis is useful for AML diagnosis and classification, and the immunophenotype has close relevance to the abnormal cytogenetic changes and clinical features in AML. The results suggested that a new prognostic scoring system that integrated the morphology, cytogenetic abnormalities and immunophenotype parameters would benefit the diagnosis, classification, and estimation of prognosis in AML patients.

  15. Influence of heavy ions on cell survival, cytogenetic damage and mitochondrial function of human endothelial cells

    Science.gov (United States)

    Ritter, Sylvia; Helm, Alexander; Lee, Ryonfa; Pollet, Dieter; Durante, Marco

    There is increasing evidence that there is an elevated risk of cardiovascular disease among atomic bomb survivors and radiotherapy patients, typically developing with a long latency. However, essentially no information is available on the potential cardiovascular risks associated with space radiation, in particular heavy ions. To address this issue, we have chosen human umbilical vein endothelial cells (HUVEC) as a model system. Cells at an early passage number were irradiated with 0.1 to 4 Gy of either 9.8 MeV/u C-ions (LET=170 keV/µm), 91 MeV/u C-ions (LET=29 keV/µm) or 250 kV X-rays. Cells were regularly subcultured up to 40 days (20 population doublings) post-irradiation. Immediately after exposure cell inactivation was deter-mined by the colony forming assay. Furthermore, at selected time-points cytogenetic damage (formation of micronuclei in binucleated cells) and the mitochondrial membrane potential ΨM (flow cytometric analysis following JC-1 staining) were assessed. Measurement of the directly induced radiation damage showed that 9.8 MeV/u and 91 MeV/u C-ions were more effective than X-rays (i.e. about 3 and 2 times, respectively) with respect to cell inactivation or the in-duction of cytogenetic damage. At the subsequent days in the irradiated cultures the number of cells with micronuclei declined to the control level (3-5Altogether our data indicate that under the applied radiation conditions the integrity of mitochondria which play a significant role in the regulation of cardiovascular cell function is not impaired. With respect to directly induced genetic damage C-ions are more effective than X-rays as observed in other cell systems. If the effectiveness of charged particles for the occurrence of late chromosomal damage in endothelial cells is higher than that of sparsely ionizing radiation needs further clarification. The data obtained up to now indicate that sophisticated cytogenetic techniques have to be applied in order to draw any firm

  16. Clinicopathologic, immunophenotyping and cytogenetic analysis of Sweet syndrome in Egyptian patients with acute myeloid leukemia.

    Science.gov (United States)

    El-Khalawany, Mohamed; Aboeldahab, Soha; Mosbeh, Al-Sadat; Thabet, Aida

    2017-02-01

    Sweet syndrome (SS) is an uncommon dermatologic disorder that could be associated with hematologic malignancies. To describe the clinicopathologic, immunophenotyping and cytogenetic characteristics of SS in Egyptian patients with acute myeloid leukemia (AML). The study was conducted during the period from April 2011 to March 2015. For each patient, a clinical evaluation and histological assessment of cutaneous lesions were recorded. Diagnostic investigations, immunophenotyping and cytogenetic features of leukemia were analyzed. Therapeutic monitoring and follow up of both diseases were registered. The study included 13 patients (7 males and 6 females) with a mean age of 44.4±17.49years. Fever was recorded in 10 cases and most of the lesions (61.5%) appeared during the post remission period. Clinically, the lesions were more frequently located on the extremities (61.5%), presented as solitary lesion (53.8%) and mostly tender (69.2%). Atypical presentations were observed in 5 cases and included ulcerative lesion, indurated mass and a gangrenous mass. Histological assessment revealed two patterns of inflammatory reactions described as classic (dermal) form (38.5%) and deep (subcutaneous) form (61.5%). Laboratory investigations showed leukocytosis in 61.5%, neutropenia in 38.5%, anaemia in 92.3%, and thrombocytopenia in 84.6%. Bone marrow aspiration and biopsy showed suppressed trilineage hematopoesis in 84.6% and blast cell count >50% in 69.2%. The common subtypes of AML included M2 and M4 (23.1% for each). Cytogenetic studies revealed genetic abnormalities in 69.2% of cases. Most of the cases (76.9%) showed a poor response to oral prednisolone but responded well to alternative therapies, including dapsone, colchicine and cyclosporine. Sweet syndrome associated with AML may show atypical clinical forms that have an aggressive course and is mostly associated with subcutaneous involvement. Although chemotherapy of AML may play a significant role in the development of

  17. Deep penetrating nevus-like borderline tumors: A unique subset of ambiguous melanocytic tumors with malignant potential and normal cytogenetics.

    Science.gov (United States)

    Magro, Cynthia M; Abraham, Ronnie M; Guo, Ruifeng; Li, Shibo; Wang, Xuan; Proper, Steven; Crowson, A Neil; Mihm, Martin

    2014-01-01

    Deep penetrating nevi (DPN) are a relatively uncommon subtype of melanocytic nevi. A small subset of these lesions exhibit atypical features (cytologic and architectural atypia, mitotic activity) seen in melanoma. These lesions we term the deep penetrating nevus-like borderline tumor. Unequivocal melanomas can show overlapping morphologic features of DPN, which have been termed plexiform melanomas. 40 cases of DPN-like borderline tumor were identified along with 6 cases of plexiform melanoma. Clinical follow up was obtained, along with cytogenetic analysis in the form of fluorescent in situ hybridization (FISH) and/or comparative genomic hybridization (CGH). The DPN-like borderline tumor cases included 24 females and 16 males. Of sentinel lymph node biopsies performed, 1/3 of cases showed lymph node involvement. All patients where an aggressive clinical approach was adopted remain free of disease. All 6 DPN-like borderline tumor cases tested by CGH showed normal cytogenetics, as did 7 of 9 cases tested by FISH. Of the plexiform melanomas, 4/6 patients died of disease. In 3 cases there was morphologic progression from a DPN-like borderline tumor to overt melanoma. In one case of progression, cytogenetics was normal in the DPN-like borderline tumor and then abnormal in the progressed melanoma. DPN-like borderline tumors are melanocytic tumors associated with a high incidence of regional lymph node disease and exhibiting the potential for melanoma progression despite a normal cytogenetic profile. Patients with these lesions should be aggressively managed, with at least complete re-excision and consideration of sentinel node biopsy, regardless of cytogenetic data.

  18. Efficacy of DSP30-IL2/TPA for detection of cytogenetic abnormalities in chronic lymphocytic leukaemia/small lymphocytic lymphoma.

    Science.gov (United States)

    Holmes, P J; Peiper, S C; Uppal, G K; Gong, J Z; Wang, Z-X; Bajaj, R

    2016-10-01

    Chronic lymphocytic leukaemia (CLL) is the most prevalent leukaemia in the Western Hemisphere. Cytogenetic abnormalities in CLL are used for diagnosis, prognosis and treatment. However, detecting these is difficult because mature B cells do not readily divide in culture. Here, we present data on two mitogen cocktails: CpG-oligonucleotide DSP30/Interleukin-2 (IL-2) and DSP30/IL-2 in combination with 12-O-tetradecanoylphorbol-13-acetate (TPA). We analysed 165 cases of CLL with FISH and cytogenetics from January 2011 to June 2013. In 2011, three cultures were set-up: unstimulated, DSP30/IL-2-stimulated and TPA-stimulated. In 2012-2013, two cultures were set-up: unstimulated and stimulated with TPA/DSP30/IL-2. In 2011, FISH had a detection rate of 91% and cytogenetics using DSP30/IL2 had a detection rate of 91% (n = 22). In 2012-2013, FISH had a detection rate of 79% and cytogenetics using TPA/DSP30/IL-2 had a detection rate of 98% (n = 40). The percentage of cases with normal FISH but abnormal cytogenetics increased from 9% in 2011 to 21% in 2012-2013. The TPA/DSP30/IL-2 cultures in 2012-2013 detected more novel abnormalities (n = 5) as compared to DSP30/IL-2 alone (n = 3). TPA/DSP30/IL2 was as good as or better than DSP30/IL2 alone. TPA/DSP30/IL-2 offers a high detection rate for CLL abnormalities with a single stimulated culture and may increase detection of clinically significant abnormalities. © 2016 John Wiley & Sons Ltd.

  19. Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina

    Science.gov (United States)

    Coccé, Mariela C.; Alonso, Cristina N.; Rossi, Jorge G.; Bernasconi, Andrea R.; Rampazzi, Maria A.; Felice, Maria S.; Rubio, Patricia L.; Eandi Eberle, Silvia; Medina, Adriana; Gallego, Marta S.

    2015-01-01

    The purpose of the current study was to evaluate the cytogenetic findings in 1,057 children with acute lymphoblastic leukemia (ALL) referred to the cytogenetics laboratory at the Hospital de Pediatría Dr. Juan P. Garrahan, between 1991 and 2014. Chromosomal abnormalities were evaluated by G-banding and FISH. Since December 2002, RT-PCR determinations were systematically carried out for BCR-ABL1, KMT2A-AFF1, ETV6-RUNX1, and TCF3-PBX1 rearrangements in children, adding KMT2A-MLLT3 and KMT2A-MLLT1 in infants. The percentage of abnormalities detected by cytogenetics was 70.1%. Four novel abnormalities, t(2;8)(p11.2;p22), inv(4)(p16q25), t(1;7)(q25;q32), and t(5;6)(q21;q21), were found in this cohort. We compared cytogenetic and RT-PCR results for BCR-ABL1, KMT2A-AFF1 and TCF3-PBX1 rearrangements in 497 children evaluated by both methods. The results were highly concordant (p < 0.7), and interestingly, FISH was relevant to confirm G-banding findings that were discordant with RT-PCR studies. This study showed the importance of performing G-b