Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview.

Science.gov (United States)

Manola, Kalliopi N

2013-10-01

Acute leukaemia of ambiguous lineage (ALAL) is a rare complex entity with heterogeneous clinical, immunophenotypic, cytogenetic and molecular genetic features and adverse outcome. According to World Health Organization 2008 classification, ALAL encompasses those leukaemias that show no clear evidence of differentiation along a single lineage. The rarity of ALAL and the lack of uniform diagnostic criteria have made it difficult to establish its cytogenetic features, although cytogenetic analysis reveals clonal chromosomal abnormalities in 59-91% of patients. This article focuses on the significance of cytogenetic analysis in ALAL supporting the importance of cytogenetic analysis in the pathogenesis, diagnosis, prognosis, follow up and treatment selection of ALAL. It reviews in detail the types of chromosomal aberrations, their molecular background, their correlation with immunophenotype and age distribution and their prognostic relevance. It also summarizes some novel chromosome aberrations that have been observed only once. Furthermore, it highlights the ongoing and future research on ALAL in the field of cytogenetics. © 2013 John Wiley & Sons Ltd.

Advances in the role of cytogenetic analysis in the molecular diagnosis of B-cell lymphomas.

Science.gov (United States)

Grange, Béatrice; Callet-Bauchu, Evelyne; Salles, Gilles; Sujobert, Pierre

2017-06-01

Cytogenetic abnormalities represent essential determinants of diagnosis and prognosis in B-cell lymphomas. Their theranostic value is increasingly significant with the development of targeted therapies, in order to adapt the treatment at diagnosis as well as when relapse occurs. Areas covered: As the significance of these biomarkers is influenced by the technology used to detect them, an overview describing the strength and weakness of conventional and emerging technologies is provided. This review also updates the diverse cytogenetic abnormalities found in B-cell lymphomas, emphasizing their value in treatment decision. Expert commentary: Cytogenetics remains an essential analysis for the diagnostic work-up of lymphomas. As whole genome sequencing becomes more and more affordable routinely, the next challenge will be to recover all the information conveyed by conventional karyotype, including the analysis of the clonal architecture at the single cell level, in whole genome data.

Contributions of Cytogenetics and Molecular Cytogenetics to the Diagnosis of Adipocytic Tumors

Directory of Open Access Journals (Sweden)

Jun Nishio

2011-01-01

Full Text Available Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH, has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or other rearrangements in adipocytic tumors. Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16(q13;p13 that produces a C11orf95-MKL2 fusion gene in chondroid lipoma. Additionally, it is well recognized that supernumerary ring and/or giant rod chromosomes are characteristic for atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, and amplification of 12q13–15 involving the MDM2, CDK4, and CPM genes is shown by FISH in these tumors. Moreover, myxoid/round cell liposarcoma is characterized by a translocation t(12;16(q13;p11 that fuses the DDIT3 and FUS genes. This paper provides an overview of the role of conventional cytogenetics and molecular cytogenetics in the diagnosis of adipocytic tumors.

Reporting of Diagnostic Cytogenetic Results.

Science.gov (United States)

Giersch, Anne B S; Bieber, Frederick R; Dubuc, Adrian M; Fletcher, Jonathan A; Ligon, Azra H; Mason-Suares, Heather; Morton, Cynthia C; Weremowicz, Stanislawa; Xiao, Sheng; Dal Cin, Paola

2016-04-01

This appendix, developed by the staff at the Center for Advanced Molecular Diagnostics in the Department of Pathology at the Brigham and Women's Hospital, includes a comprehensive list of current "macros" or standardized statements used to facilitate reporting of cytogenetic results. These are provided as a useful reference for other laboratories. The statements are organized under the general categories of constitutional or acquired abnormalities and subdivided into analysis type (GTG-banding, FISH, or chromosomal microarray). Multi-specimen usage macros are included that can be applied to two or more specimen types. Copyright © 2016 John Wiley & Sons, Inc.

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

Directory of Open Access Journals (Sweden)

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.

Unmet needs in automated cytogenetics

International Nuclear Information System (INIS)

Bender, M.A.

1976-01-01

Though some, at least, of the goals of automation systems for analysis of clinical cytogenetic material seem either at hand, like automatic metaphase finding, or at least likely to be met in the near future, like operator-assisted semi-automatic analysis of banded metaphase spreads, important areas of cytogenetic analsis, most importantly the determination of chromosomal aberration frequencies in populations of cells or in samples of cells from people exposed to environmental mutagens, await practical methods of automation. Important as are the clinical diagnostic applications, it is apparent that increasing concern over the clastogenic effects of the multitude of potentially clastogenic chemical and physical agents to which human populations are being increasingly exposed, and the resulting emergence of extensive cytogenetic testing protocols, makes the development of automation not only economically feasible but almost mandatory. The nature of the problems involved, and acutal of possible approaches to their solution, are discussed

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

Molecular and cytogenetic analysis of the giant genomes of Fritillaria lilies

Czech Academy of Sciences Publication Activity Database

Ambrožová, K.; Macas, Jiří; Neumann, Pavel; Leitch, I. J.; Lysák, M.

2009-01-01

Roč. 17, č. 4 (2009), s. 558-559 ISSN 0967-3849. [International Chromosome Conference (ICC) /17./. 23.6.2009-26.6.2009, Boone] Institutional research plan: CEZ:AV0Z50510513 Keywords : giant genomes of Fritillaria lilies * cytogenetic analysis Subject RIV: EB - Genetics ; Molecular Biology

Lymphoma cytogenetics.

Science.gov (United States)

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

2011-12-01

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

Cytogenetic Analysis of 65 Women with Premature Ovarian Insufficiency

OpenAIRE

Seda Ates

2016-01-01

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...

Cytogenetic and molecular cytogenetic methods in hemato-oncology

International Nuclear Information System (INIS)

Novakova, P.; Ilencikova, D.

2010-01-01

Cancer, either sporadic or hereditary, is a genetic disease that develops through multiple genetic changes. Specific genetic defects have been found to be associated non randomly with the predisposition, genesis, progression, and metastasis of various kinds of neoplasia. Cytogenetics in haematological malignancy to aid in 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. FISH technology, a combination of molecular and conventional cytogenetic techniques, has brought modern cytogenetics to a new era with significantly higher resolutions and much wider testing spectrum. Since then, numerous new FISH-based technologies have been emerging, from metaphase FISH to interphase FISH, from single-color FISH to multicolor FISH, from comparative gnenomic hybridisation (CGH) to array CGH, and so on. In this review the advantages and limitations of each of the various types of conventional and molecular cytogenetic methodologies are discussed with regard to their application in human neoplasia. (author)

Cytogenetic and autoradiographic investigations in gonadal dysgenesis

International Nuclear Information System (INIS)

Baron, J.; Warenik-Szymankiewicz, A.; Medical Academy, Poznan

1977-01-01

Cytogenetic analysis in 23 patients with Turner's syndrome and in 33 women with pure gonadal dysgenesis consisted of sex chromatin determination and karyotype studies employing autoradiography in questionable cases. Here autoradiography is used as an indispensable complement to cytogenetic techniques. The labelling behaviour of aberrant chromosomes is described. After treatment of the autoradiographic films for more differentiation in results is employed

Review of Cytogenetic analysis of restoration workers for Fukushima Daiichi nuclear power station accident

International Nuclear Information System (INIS)

Suto, Yumiko

2016-01-01

Japan faced with the nuclear accident of the Fukushima Daiichi Nuclear Power Station (NPS) caused by the combined disaster of the Great East Japan Earthquake and the subsequent tsunamis on 11 March 2011. National Institute of Radiological Sciences received all nuclear workers who were engaged in emergency response tasks at the NPS and suspected of being overexposed to acute radiation. Biological dosimetry by dicentric chromosome assay was helpful for medical triage and management of the workers. When an unplanned radiation exposure occurs, biological dosimetry based on cytogenetic assays has been used to estimate the absorbed dose in the exposed individual to get useful information for the medical management of radiological casualties with suspected acute radiation syndrome (ARS). Nowadays, more cytogenetic assays to measure chromosomal aberrations, such as micronuclei in bi-nucleated cells, prematurely condensed chromosomes (PCCs) and inter-chromosomal exchanges detected by fluorescence in situ hybridization (FISH) techniques, are available. However, the dicentric chromosome assay (DCA) using peripheral blood lymphocytes is still considered to be the 'gold standard' of biological dosimetry for the radiation emergency medicine. Experimental protocols of DCA has been standardized and shared among laboratories all over the world. In fact, DCA was useful in previous radiation accidents, e.g. the Chernobyl accident in 1986, the Goiania accident in 1987, the JCO criticality accident in 1999 and the Tokyo electric power company (TEPCO) Fukushima Daiichi Nuclear Power Station (NPS) accident in 2011. The recent development of microscopic image analysis system with automatic metaphase finding and capturing functions was helpful for rapid detection of dicentric chromosomes to perform DCA for the Fukushima NPS restoration workers. (author)

Quick cytogenetic screening of breeding bulls using flow cytometric sperm DNA histogram analysis.

Science.gov (United States)

Nagy, Szabolcs; Polgár, Péter J; Andersson, Magnus; Kovács, András

2016-09-01

The aim of the present study was to test the FXCycle PI/RNase kit for routine DNA analyses in order to detect breeding bulls and/or insemination doses carrying cytogenetic aberrations. In a series of experiments we first established basic DNA histogram parameters of cytogenetically healthy breeding bulls by measuring the intraspecific genome size variation of three animals, then we compared the histogram profiles of bulls carrying cytogenetic defects to the baseline values. With the exception of one case the test was able to identify bulls with cytogenetic defects. Therefore, we conclude that the assay could be incorporated into the laboratory routine where flow cytometry is applied for semen quality control.

Cytogenetic analysis of peripheral blood lymphocytes after arteriography (exposure to x-rays and contrast medium)

International Nuclear Information System (INIS)

Popova, L.; Hadjidekova, V.; Karadjov, G.; Agova, S.; Traskov, D.; Hadjidekov, V.

2005-01-01

Backgrounds. The purpose of our study is to investigate the cytogenetic analysis findings in peripheral blood lymphocytes of 29 patients who had undergone diagnostic radiography. Methods. Peripheral blood samples were taken from 22 patients submitted to renal arteriography and 7 patients submitted to cerebral arteriography (17 male and 12 female, aged between 13-68 years). Cytogenetic analyses of peripheral lymphocytes were performed before the procedure, immediately after and 24 hours later. The entrance skin dose obtained during the whole diagnostic X-ray exposure was measured by thermoluminescent dosimeters and varied between 0.03-0.30 Gy. Both low and high osmolarity contrast media were used. Chromosomal aberrations and micronuclei frequency were used as biomarkers of genotoxicity. Results. The estimated frequency of chromosomal aberrations and micronuclei in the peripheral blood lymphocytes of patients after arteriography examination was significantly higher than the level before the diagnostic exposure. The mean frequency of cells with chromosomal aberrations was nearly double after examination and proved to be constant in the analysis after 24 hours. Conclusions. Radiological diagnostic procedures involving iodinated contrast media as arteriography may cause a significant increase in cytogenetic damage in peripheral blood lymphocytes. (author)

Cytogenetic analysis in peripheral blood lymphocytes after arteriography (exposure to X-rays and contrast medium)

International Nuclear Information System (INIS)

Hadjidekova, V.; Popova, L.; Hristova, R.; Hadjidekov, V.

2006-01-01

Full text: The purpose of our study is to investigate the cytogenetic effects in peripheral blood lymphocytes of 29 patients who had undergone diagnostic angiography. Peripheral blood samples were taken from 22 patients submitted to renal arteriography and 7 patients submitted to cerebral arteriography (17 male and 12 female, aged between 13 and 68 years). Cytogenetic analysis was performed in peripheral lymphocytes before the procedure, immediately after and 24 hours later. The entrance skin dose obtained during the whole diagnostic X-ray exposure was measured by thermoluminescent dosimeters and varied between 0.03 - 0.30 Gy. Both low and high osmolarity contrast media were used. Chromosomal aberrations and micronuclei frequency was used as biomarkers of genotoxicity. The estimated frequency of chromosomal aberrations and micronuclei in peripheral blood lymphocytes of patients after arteriography examination is significantly higher than the level before the diagnostic exposure. The mean frequency of cells with chromosomal aberrations nearly double after examination and remained constant at 24h analysis. Radiological diagnostic procedures involving iodinated contrast media as arteriography may cause a significant increase of the cytogenetic injury in peripheral blood lymphocytes

Cytogenetic techniques for biological indications and dosimetry of of radiation damages in humans

International Nuclear Information System (INIS)

Hadjidekova, V.

2003-01-01

The cytogenetic methods present a proved way for bio-monitoring and bio-dosimetry for persons, submitted to ionising radiation in occupational and emergency conditions. Their application complement and assist the evaluation of the physical dosimetry and takes in account the individual radiosensitivity of the organism. A comparative assessment is made of the cytogenetic markers for radiation damage of humans applied in Bulgaria. It is discussed the sensitivity of the methods and their development in the last years, as well as the basic concept for their application - the causal relationship between the frequency of the observation of cytogenetic markers in peripheral blood lymphocytes and the risk of oncological disease. The conventional analysis of dicentrics is recognised as a 'golden standard' for the quantitative assessment of the radiation damage. The long term persisting translocations reflect properly the cumulative dose burden from chronic exposure. The micronucleus test allows a quick screening of large groups of persons, working in ionising radiation environment. The combined application with centromeric DNA probe improves the sensitivity and presents a modern alternative of the bio-monitoring and bio-dosimetry. It is discussed the advantages of the different cytogenetic techniques and their optimised application for the assessment of the radiation impact on humans

Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies - Training Materials

International Nuclear Information System (INIS)

2013-01-01

These materials are designed for use at a four day training course on the application of cytogenetic dosimetry in preparedness for and response to radiation emergencies. They contain information on: (1) Basics of biological effects of ionizing radiation: Parts 1+2; (2) Basics of dosimetry; (3) dicentric assay; (4) Retrospective dosimetry by translocation analysis; (5) Premature chromosome condensation analysis; (6) Cytokinesis block micronucleus assay; (7) Applied statistics for biodosimetry; (8) Automatic analysis of chromosomal assays; (9) Biodosimetry in mass casualty events; (10) Safety of laboratory staff and quality programmes; (11) Examples of accident investigations; (12) Cytogenetic dose estimation in the criticality accident in Tokaimura; (13) Radiological accidents in Latin America; (14) Radiological accidents in Georgia. Additionally, the CD contains two working sessions with the reference materials for use and a standard training programme. This training course consists of lectures and work sessions that can easily be utilized by a State to build a basic capability in biodosimetry application in a nuclear or radiological emergency

Semiautomatic digital imaging system for cytogenetic analysis

International Nuclear Information System (INIS)

Chaubey, R.C.; Chauhan, P.C.; Bannur, S.V.; Kulgod, S.V.; Chadda, V.K.; Nigam, R.K.

1999-08-01

The paper describes a digital image processing system, developed indigenously at BARC for size measurement of microscopic biological objects such as cell, nucleus and micronucleus in mouse bone marrow; cytochalasin-B blocked human lymphocytes in-vitro; numerical counting and karyotyping of metaphase chromosomes of human lymphocytes. Errors in karyotyping of chromosomes by the imaging system may creep in due to lack of well-defined position of centromere or extensive bending of chromosomes, which may result due to poor quality of preparation. Good metaphase preparations are mandatory for precise and accurate analysis by the system. Additional new morphological parameters about each chromosome have to be incorporated to improve the accuracy of karyotyping. Though the experienced cytogenetisist is the final judge; however, the system assists him/her to carryout analysis much faster as compared to manual scoring. Further, experimental studies are in progress to validate different software packages developed for various cytogenetic applications. (author)

Flow cytogenetics and chromosome sorting.

Science.gov (United States)

Cram, L S

1990-06-01

This review of flow cytogenetics and chromosome sorting provides an overview of general information in the field and describes recent developments in more detail. From the early developments of chromosome analysis involving single parameter or one color analysis to the latest developments in slit scanning of single chromosomes in a flow stream, the field has progressed rapidly and most importantly has served as an important enabling technology for the human genome project. Technological innovations that advanced flow cytogenetics are described and referenced. Applications in basic cell biology, molecular biology, and clinical investigations are presented. The necessary characteristics for large number chromosome sorting are highlighted. References to recent review articles are provided as a starting point for locating individual references that provide more detail. Specific references are provided for recent developments.

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

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

International Nuclear Information System (INIS)

Kim, Jung-Ah; Im, Kyong Ok; Park, Si Nae; Kwon, Ji Seok; Kim, Seon Young; Oh, Keunhee; Lee, Dong-Sup; Kim, Min Kyung; Kim, Seong Who; Jang, Mi; Lee, Gene; Oh, Yeon-Mok; Lee, Sang Do; Lee, Dong Soon

2015-01-01

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

Cytogenetic techniques as biological indicator and dosimeter of radiation damage

International Nuclear Information System (INIS)

Hadjidekova, V.; Hristova, R.

2006-01-01

Full text: The cytogenetic methods are established techniques for bio monitoring and bio dosimetry of professionally and accidentally exposed to ionizing radiation subjects. They are applied to continue the evaluation of the physical dosimetry and to consider the individual radiosensitivity. The results of cytogenetic monitoring and dosimetry of radiation exposed subjects carried out during the last 5 years in laboratory of Radiation Genetics, NCRRP is reported. Laboratory of Radiation genetics performs cytogenetic monitoring of low dose radiation professionally or medically exposed subjects: workers in Kozloduy NPP, radioactive waste repository workers, X-rays diagnostically exposed patients, and radiotherapy exposed as well. Three cytogenetic indicators are applied as the most sensitive indicators for human radiation exposure: analysis of micronuclei (MN), chromosomal aberrations (CA) and stable translocations (FISH). The optimized methodology for application of different cytogenetic techniques for radiation estimation is discussed

Cytogenetic analysis in couples with recurrent miscarriages: a ...

Indian Academy of Sciences (India)

Journal of Genetics, DOI 10.1007/s12041-016-0713-3, Vol. 95, No. ... After taking the written informed consent; clinical and med- ical history was .... Cytogenetic investigations in ..... outcomes have been reported after surgical interventions.

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

A preliminary investigation: the impact of microscopic condenser on depth of field in cytogenetic imaging

Science.gov (United States)

Ren, Liqiang; Qiu, Yuchen; Li, Zheng; Li, Yuhua; Zheng, Bin; Li, Shibo; Chen, Wei R.; Liu, Hong

2013-02-01

As one of the important components of optical microscopes, the condenser has a considerable impact on system performance, especially on the depth of field (DOF). DOF is a critical technical feature in cytogenetic imaging that may affect the efficiency and accuracy of clinical diagnosis. The purpose of this study is to investigate the influence of microscopic condenser on DOF using a prototype of transmitted optical microscope, based on objective and subjective evaluations. After the description of the relationship between condenser and objective lens and the theoretical analysis of the condenser impact on system numerical aperture and DOF, a standard resolution pattern and several cytogenetic samples are adopted to assess the condenser impact on DOF, respectively. The experimental results of these objective and subjective evaluations are in agreement with the theoretical analysis and show that, under the specific intermediate range of condenser numerical aperture ( NAcond ), the DOF value decreases with the increase of NAcond . Although the above qualitative results are obtained under the experimental conditions with a specific prototype system, the methods presented in this preliminary investigation could offer useful guidelines for optimizing operational parameters in cytogenetic imaging.

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

Radiation protection - Performance criteria for laboratories performing cytogenetic triage for assessment of mass casualties in radiological or nuclear emergencies - General principles and application to dicentric assay

International Nuclear Information System (INIS)

2008-01-01

The potential for nuclear and radiological emergencies involving mass casualties from accidental or malicious acts or terrorism requires generic procedures for emergency dose assessment to help the development of medical response capabilities. A mass-casualties incident is defined here as an event that exceeds the local medical resources. Biological dosimetry, based on cytogenetic analysis using the dicentric assay, typically applied for accidental dose assessment, has been defined in ISO 19238. Cytogenetic triage is the use of chromosome damage to evaluate and assess approximately and rapidly radiation doses received by individuals in order to supplement the clinical categorization of casualties. This International Standard focuses on the use of the dicentric assay for rapid cytogenetic triage involving mass-casualty incidents. The primary purpose of this International Standard is to provide a guideline to all laboratories in order to perform the dicentric-bioassay - cytogenetic triage for dose assessment using documented and validated procedures. Secondly, it can facilitate the application of cytogenetic biodosimetry networks to permit comparison of results obtained in different laboratories. Finally, it is expected that laboratories newly commissioned to carry out the cytogenetic triage conform to this International Standard in order to perform the triage reproducibly and accurately. This International Standard is written in the form of procedures to adopt for dicentric-bioassay - cytogenetic triage biological dosimetry for overexposures involving mass radiological casualties. The criteria required for such measurements usually depend on the application of the results: medical management when appropriate, radiation-protection management, record keeping and medical/legal requirements. For example, selected cases can be analysed to produce a more accurate evaluation of high partial-body exposure; secondly, doses can be estimated for persons exposed below the

Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae reveals different chromosome number for the genus

Directory of Open Access Journals (Sweden)

Izaura Bezerra Francini

2011-10-01

Full Text Available Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae, by conventional Giemsa staining and C-banding, revealed a different chromosome number for Melipona: 2n = 22 for females and diploid drones while the haploid drones present n = 11. There is no evidence of B chromosomes. This result contrasts with previous studies, in which the chromosome number of 19 Melipona species was determined as 2n = 18 for females and n = 9 for haploid males. Based on cytogenetic information available for other Melipona species, we propose that M. s. merrillae has a more derived diploid number. This indicates that chromosome number is not a conservative characteristic within the genus as previously thought. Cytogenetic data for stingless bees are scarce, especially in Amazon region. Additional studies will be very important in order to promote Melipona karyoevolution discussion and consequently a taxonomy review.

Cytogenetic effects of the action of ionizing radiations on human populations

International Nuclear Information System (INIS)

Shevchenko, V.A.; Snigiryova, G.P.

1998-01-01

The objective of the present work is the analysis of available materials on practical application of the cytogenetic method for dose assessment in people participating in the post-accidental rescue and clean-up operations in Chernobyl (so-called 'liquidators'). These materials will be compared with the results of cytogenetic investigations performed in other regions of Russia exposed to radiation (the village Muslyumovo in the Chelyabinsk region, several localities of the Altai Territory in the vicinity of the Semipalatinsk nuclear test site) as well as with the results of cytogenetic monitoring in the population living around the Three Mile Island (TMI) nuclear power plant (Pennsylvania, USA) where a nuclear accident occurred in 1979. The work presents the results of cytogenetic investigations obtained by the traditional method of analysis of the frequency of unstable chromosome aberrations and by the FISH method based on the frequency of stable chromosome aberrations. (J.P.N.)

The cytogenetic damage in gynaecological cancer patients during radiotherapy. The variability of cytogenetic response to irradiation

International Nuclear Information System (INIS)

Vyinnyikov, V.A.; Maznik, N.A.; Sipko, T.C.; Pshenyichna, N.D.

2013-01-01

The limits of cytogenetic changes in blood lymphocytes of gynecological cancer patients undergoing radiotherapy and assessment the individual variability of the kinetics of chromosome aberration yields depending on treatment schemes was evaluated. Cytogenetic study was carried out in 53 female patients with uterine cancer. For the first time in vivo aberration yields were compared in the representational groups of gynecological cancer patients undergoing telegammatherapy, intracavitary brachytherapy or their combination; the limits of cytogenetic changes were evaluated and the magnitude of the individual variability of kinetics of cytogenetic damage yield was assessed depending on the scheme of therapeutic irradiation

[Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome].

Science.gov (United States)

Zhang, Kaihui; Song, Fengling; Zhang, Dongdong; Zhang, Haiyan; Wang, Ying; Dong, Rui; Zhang, Yufeng; Liu, Yi; Gai, Zhongtao

2016-12-10

To investigate the genetic cause for a child with developmental delay and congenital heart disease through molecular cytogenetic analysis. G-banded karyotyping and chromosomal microarray analysis (CMA) were performed for the patient and his parents. The proband's karyotype was detected as ring chromosome 3, and a 3q26.3-25.3 deletion encompassing 45 genes has been found with CMA. Testing of both parents was normal. Clinical phenotype of the patient with ring chromosome 3 mainly depends on the involved genes. It is necessary to combine CMA and karyotyping for the diagnosis of ring chromosome, as CMA can provide more accurate information for variations of the genome.

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

Science.gov (United States)

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

2010-01-01

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

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.

Current status, new frontiers and challenges in radiation biodosimetry using cytogenetic, transcriptomic and proteomic technologies

Energy Technology Data Exchange (ETDEWEB)

Fenech, Michael, E-mail: michael.fenech@csiro.au [Commonwealth Scientific and Industrial Research Organisation, Gate 13 Kintore Avenue, Adelaide, SA 5000 (Australia)

2011-09-15

Biodosimetric methods for determining exposure dose in individuals following a radiation accident are important for the health management of the exposed cohort and prioritisation of high dose exposure cases to receive emergency medical treatment. This brief review provides a succinct outline of (i) the current status of standard cytogenetic methods used in radiation biodosimetry; (ii) development of high-throughput systems for current standard cytogenetic methods; (iii) emerging minimally invasive methods; (iv) the impact of nutrition and genotype on observed dose-response relationships and (v) new frontiers in biodosimetry using molecular biology techniques such as transcriptomics and proteomics.

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.

Comparative cytogenetics of Auchenorrhyncha (Hemiptera, Homoptera): a review

Science.gov (United States)

Kuznetsova, Valentina; Aguin-Pombo, Dora

2015-01-01

Abstract A comprehensive review of cytogenetic features is provided for the large hemipteran suborder Auchenorrhyncha, which currently contains approximately 42,000 valid species. This review is based on the analysis of 819 species, 483 genera, and 31 families representing all presently recognized Auchenorrhyncha superfamilies, e.i. Cicadoidea (cicadas), Cercopoidea (spittle bugs), Membracoidea (leafhoppers and treehoppers), Myerslopioidea (ground-dwelling leafhoppers), and Fulgoroidea (planthoppers). History and present status of chromosome studies are described, as well as the structure of chromosomes, chromosome counts, trends and mechanisms of evolution of karyotypes and sex determining systems, their variation at different taxonomic levels and most characteristic (modal) states, occurrence of parthenogenesis, polyploidy, B-chromosomes and chromosome rearrangements, and methods used for cytogenetic analysis of Auchenorrhyncha. PMID:26807037

Different impact of intermediate and unfavourable cytogenetics at the time of diagnosis on outcome of de novo AML after allo-SCT: a long-term retrospective analysis from a single institution.

Science.gov (United States)

Nahi, H; Remberger, M; Machaczka, M; Ungerstedt, J; Mattson, J; Ringden, O; Le-Blanc, Katarina; Ljungman, P; Hägglund, H

2012-12-01

Karyotype of myeloblasts at the time of AML diagnosis has been shown to be prognostic significant for pre-remission outcome and outcome after allo-SCT, but the latter requires further studies. We conducted a retrospective analysis of the impact of intermediate and unfavourable cytogenetics at the time of primary diagnosis on outcome after allo-SCT in de novo AML. The study included 169 patients who underwent allo-SCT at Karolinska University Hospital between 1980 and 2010. Intermediate and unfavourable cytogenetics were found in 129 (76%) and 40 patients (24%), respectively. Myeloablative and reduced-intensity conditioning were given to 120 (71%) and 49 (29%) patients, respectively. Allo-SCT was performed in CR1 in 122 patients (72%). TRM was 16% in both cytogenetics groups. Relapse occurred in 29% patients with intermediate and in 45% patients with unfavourable cytogenetics (P=0.01). The probabilities of 5-year OS for patients with intermediate and unfavourable cytogenetics were 60 and 43%, respectively (P=0.02). Multivariate analysis revealed intermediate cytogenetics, chronic GVHD, and recipient CMV-negative serostatus as variables associated with favourable OS. Our study showed that outcome after allo-SCT in de novo AML differs depending on cytogenetic risk-group; however its position in post-remission therapy of eligible AML patients is not threatened.

Cytogenetics in animal production

Directory of Open Access Journals (Sweden)

L. Iannuzzi

2010-04-01

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

Acute myeloid leukaemia: expression of MYC protein and its association with cytogenetic risk profile and overall survival.

Science.gov (United States)

Mughal, Muhammad Kashif; Akhter, Ariz; Street, Lesley; Pournazari, Payam; Shabani-Rad, Meer-Taher; Mansoor, Adnan

2017-09-01

Acute myeloid leukaemia (AML) is a clinically aggressive disease with marked genetic heterogeneity. Cytogenetic abnormalities provide the basis for risk stratification into clinically favourable, intermediate, and unfavourable groups. There are additional genetic mutations, which further influence the prognosis of patients with AML. Most of these result in molecular aberrations whose downstream target is MYC. It is therefore logical to study the relationship between MYC protein expression and cytogenetic risk groups. We studied MYC expression by immunohistochemistry in a large cohort (n = 199) of AML patients and correlated these results with cytogenetic risk profile and overall survival (OS). We illustrated differential expression of MYC protein across various cytogenetic risk groups (p = 0.03). Highest expression of MYC was noted in AML patients with favourable cytogenetic risk group. In univariate analysis, MYC expression showed significant negative influence of OS in favourable and intermediate cytogenetic risk group (p = 0.001). Interestingly, MYC expression had a protective effect in the unfavourable cytogenetic risk group. In multivariate analysis, while age and cytogenetic risk group were significant factors influencing survival, MYC expression by immunohistochemistry methods also showed some marginal impact (p = 0.069). In conclusion, we have identified differential expression of MYC protein in relation to cytogenetic risk groups in AML patients and documented its possible impact on OS in favourable and intermediate cytogenetic risk groups. These preliminary observations mandate additional studies to further investigate the routine clinical use of MYC protein expression in AML risk stratification. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

A comparative analysis of molecular genetic and conventional cytogenetic detection of diagnostically important translocations in more than 400 cases of acute leukemia, highlighting the frequency of false-negative conventional cytogenetics.

Science.gov (United States)

King, Rebecca L; Naghashpour, Mojdeh; Watt, Christopher D; Morrissette, Jennifer J D; Bagg, Adam

2011-06-01

In this study, we correlated the results of concurrent molecular and cytogenetic detection of entity-defining translocations in adults with acute leukemia to determine the frequency of cryptic translocations missed by conventional cytogenetics (CC) and of recurrent, prognostically relevant translocations not detectable by multiplex reverse transcriptase-polymerase chain reaction (MRP). During a 5.5-year period, 442 diagnostic acute leukemia specimens were submitted for MRP-based detection of 7 common recurrent translocations: t(8;21), t(15;17), inv(16), t(9;22), t(12;21), t(4;11), and t(1;19), with a detection rate of 15.2% (67/442). CC was performed in 330 (74.7%) of 442 cases. In 7 of these 330 cases, CC missed the translocation detected by MRP. In 50 additional cases, CC revealed 1 of the MRP-detectable translocations (all were also MRP positive), yielding a false-negative rate of 12% (7/57) for the CC assay. The remaining 140 of 190 cases with clonal cytogenetic changes harbored abnormalities that were not targeted by the MRP assay, including 8 that define specific acute myeloid leukemia entities. This study revealed the frequent occurrence of false-negative, entity-defining CC analysis and highlighted the complementary nature of MRP and CC approaches in detecting genetic abnormalities in acute leukemia.

CytoBayesJ: software tools for Bayesian analysis of cytogenetic radiation dosimetry data.

Science.gov (United States)

Ainsbury, Elizabeth A; Vinnikov, Volodymyr; Puig, Pedro; Maznyk, Nataliya; Rothkamm, Kai; Lloyd, David C

2013-08-30

A number of authors have suggested that a Bayesian approach may be most appropriate for analysis of cytogenetic radiation dosimetry data. In the Bayesian framework, probability of an event is described in terms of previous expectations and uncertainty. Previously existing, or prior, information is used in combination with experimental results to infer probabilities or the likelihood that a hypothesis is true. It has been shown that the Bayesian approach increases both the accuracy and quality assurance of radiation dose estimates. New software entitled CytoBayesJ has been developed with the aim of bringing Bayesian analysis to cytogenetic biodosimetry laboratory practice. CytoBayesJ takes a number of Bayesian or 'Bayesian like' methods that have been proposed in the literature and presents them to the user in the form of simple user-friendly tools, including testing for the most appropriate model for distribution of chromosome aberrations and calculations of posterior probability distributions. The individual tools are described in detail and relevant examples of the use of the methods and the corresponding CytoBayesJ software tools are given. In this way, the suitability of the Bayesian approach to biological radiation dosimetry is highlighted and its wider application encouraged by providing a user-friendly software interface and manual in English and Russian. Copyright © 2013 Elsevier B.V. All rights reserved.

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.

[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.

The Cerrado (Brazil) plant cytogenetics database.

Science.gov (United States)

Roa, Fernando; Telles, Mariana Pires de Campos

2017-01-01

Cerrado is a biodiversity hotspot that has lost ca. 50% of its original vegetation cover and hosts ca. 11,000 species belonging to 1,423 genera of phanerogams. For a fraction of those species some cytogenetic characteristics like chromosome numbers and C-value were available in databases, while other valuable information such as karyotype formula and banding patterns are missing. In order to integrate and share all cytogenetic information published for Cerrado species, including frequency of cytogenetic attributes and scientometrics aspects, Cerrado plant species were searched in bibliographic sources, including the 50 richest genera (with more than 45 taxa) and 273 genera with only one species in Cerrado. Determination of frequencies and the database website (http://cyto.shinyapps.io/cerrado) were developed in R. Studies were pooled by employed technique and decade, showing a rise in non-conventional cytogenetics since 2000. However, C-value estimation, heterochromatin staining and molecular cytogenetics are still not common for any family. For the richest and best sampled families, the following modal 2n counts were observed: Oxalidaceae 2n = 12, Lythraceae 2n = 30, Sapindaceae 2n = 24, Solanaceae 2n = 24, Cyperaceae 2n = 10, Poaceae 2n = 20, Asteraceae 2n = 18 and Fabaceae 2n = 26. Chromosome number information is available for only 16.1% of species, while there are genome size data for only 1.25%, being lower than the global percentages. In general, genome sizes were small, ranging from 2C = ca. 1.5 to ca. 3.5 pg. Intra-specific 2n number variation and higher 2n counts were mainly related to polyploidy, which relates to the prevalence of even haploid numbers above the mode of 2n in most major plant clades. Several orphan genera with almost no cytogenetic studies for Cerrado were identified. This effort represents a complete diagnosis for cytogenetic attributes of plants of Cerrado.

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

Science.gov (United States)

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

2016-05-01

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

Primary cutaneous follicle center lymphoma associated with an extracutaneous dissemination: a cytogenetic finding of potential prognostic value.

Science.gov (United States)

Subramaniyam, Shivakumar; Magro, Cynthia M; Gogineni, Swarna; Tam, Wayne; Mathew, Susan

2015-11-01

Cytogenetic studies on cutaneous lymphomas are rare, and very little is known about their prognostic value. We present a rare case of primary cutaneous follicle center lymphoma (PCFCL) with a complex translocation presenting with cutaneous and extracutaneous dissemination in the lymph node. Morphologic, immunohistochemical, conventional cytogenetic, and fluorescence in situ hybridization (FISH) studies were performed on this patient. A combination of cytogenetic and FISH analysis identified a complex novel four-way t(2;14;9;3) (p11.2;q32;p13;q27) translocation involving rearrangements of BCL6, immunoglobulin light and heavy chain genes, and an unknown gene on 9p. Our report elaborates the morphologic and immunohistochemical features in combination with cytogenetic and molecular cytogenetic analysis of PCFCL, which provide additional insight into the clinical and biologic behavior of this lesion. Copyright© by the American Society for Clinical Pathology.

Cytogenetic biodosimetry to estimate radiation doses received in accidental radiological exposures

International Nuclear Information System (INIS)

AIsbeih, Ghazi

2014-01-01

The tremendous applications of nuclear technologies in various aspects of life increase the probability of over exposure due to involuntary or premeditated nuclear accidents. National radiation-protection preparedness requires adequate estimate of dose received for efficient medical assistance of victims. Cytogenetic biodosimetry is an ISO and IAEA standardized biotechnology technique. We have established a reference biological dosimetry laboratory to boost the nation's ability to respond to sporadic and mass radiation casualty incidents and to assess the magnitude of radiation overexposure. Accurate calculation of radiation doses received will result in evidence based treatment decisions and better management of valuable emergency resources. It will also contribute to the 'National Radiation Protection Program' by playing a role in nuclear emergency plans. The cytogenetic method is standardized and scalable. In addition to diagnosis of over exposure, it provides triage capability for rapid stratification of patients who need more specialized medical care. It can also detect false positives and false negatives exposure particularly in cases of legal allegations

Cytogenetic study is not essential in patients with aplastic anemia

Science.gov (United States)

Dutta, Atreyee; De, Rajib; Dolai, Tuphan K; Mitra, Pradip K; Halder, Ajanta

2017-01-01

Depending on contemporary treatment approach of aggressive immunosuppression, Aplastic Anemia (AA) is caused by immunological destruction of otherwise normal hematopoietic stem cells. The aim was to summarize the cytogenetic abnormalities in AA patients and the frequency of Fanconi Anemia (FA) in morphologically normal AA patients in eastern India. Ethical clearances were obtained from both institutions involved in this study. Out of 72800 patients attending the outpatient department, 520 pancytopenia patients were screened for AA after Bone marrow (BM) aspiration and biopsy. Samples were collected from 117 cases in 3 phases. 51 peripheral venous blood (PVB) samples in the first phase, 19 BM & PVB paired samples in the second phase and 47 BM samples in third phase were collected followed by leukocyte and/or BM stem cell culture. Next GTG banding and karyotyping were performed. PVB was collected from 63 (< 50 years) AA patients and stress cytogenetics was done to diagnose FA. In the first phase of the study, out of 51 PVB samples, 1 (1.96%) showed a unique chromosomal abnormality, i.e. 45,XY,rob(14:21)(p10:q10)[20]. In the second phase of study, among 19 BM & PVB paired samples, 1 (5.26%) showed abnormal karyotype i.e. 45,X,-Y[3]/46,XY[47]. In the third phase of the study, 47 BM samples showed normal karyotype. Only 6 (9.52%) cases were found positive for stress cytogenetics. A negligible percentage showing cytogenetic abnormality in such a considerable number of AA cases indicates that routine cytogenetic analysis of AA patient is not essential. A significant percentage was positive for stress cytogenetics; suggestive for FA, even the patients were morphologically normal. PMID:29181263

Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

Science.gov (United States)

Flores-Ramírez, Francisco; Palacios-Guerrero, Claudia; García-Delgado, Constanza; Morales-Jiménez, Ariadna Berenice; Arias-Villegas, Christian Martín; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

2015-08-01

Trisomy 21 is the most frequent genetic cause of intellectual disability. It is caused by different cytogenetic aberrations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements of chromosome 21. The aim of the study was to identify in Mexican trisomy 21 patients who attended Hospital Infantil de México Federico Gómez from 1992-2011 the type and frequency of the cytogenetic aberration and to evaluate the effect of maternal age. A retrospective analysis of epidemiological data and karyotype reports were carried out; type and frequency of the cytogenetic variants were determined. We identified 2,018 cases referred with a clinical diagnosis of trisomy 21. In 1,921 analyses (95.2%) a cytogenetic variant of trisomy 21 was identified: free trisomy 21 in 1,787 cases (93.02%), four cases (0.21%) had an additional non-contributory aberration; Robertsonian translocations in 92 cases (4.79%); mosaicism in 31 cases (1.61%) and seven cases (0.36%) had other chromosomal abnormalities, five (0.26%) had other contributory structural rearrangements and two corresponded to double aneuploidies (0.10%). Gender distribution was 1,048 (54.56%) males and 873 (45.44%) females. A maternal age effect was observed in patients with free trisomy 21 with mothers >36 years of age. The present work reports the experience of a Mexican referral center regarding the karyotype diagnosis of patients with trisomy 21 and is one of the most extensive studies published so far. Percentages of the cytogenetic abnormalities present in our population reflect the ones previously reported for these cytogenetic alterations worldwide. Copyright © 2015 IMSS. Published by Elsevier Inc. All rights reserved.

Cytogenetic study is not essential in patients with aplastic anemia.

Science.gov (United States)

Dutta, Atreyee; De, Rajib; Dolai, Tuphan K; Mitra, Pradip K; Halder, Ajanta

2017-01-01

Depending on contemporary treatment approach of aggressive immunosuppression, Aplastic Anemia (AA) is caused by immunological destruction of otherwise normal hematopoietic stem cells. The aim was to summarize the cytogenetic abnormalities in AA patients and the frequency of Fanconi Anemia (FA) in morphologically normal AA patients in eastern India. Ethical clearances were obtained from both institutions involved in this study. Out of 72800 patients attending the outpatient department, 520 pancytopenia patients were screened for AA after Bone marrow (BM) aspiration and biopsy. Samples were collected from 117 cases in 3 phases. 51 peripheral venous blood (PVB) samples in the first phase, 19 BM & PVB paired samples in the second phase and 47 BM samples in third phase were collected followed by leukocyte and/or BM stem cell culture. Next GTG banding and karyotyping were performed. PVB was collected from 63 (cytogenetics was done to diagnose FA. In the first phase of the study, out of 51 PVB samples, 1 (1.96%) showed a unique chromosomal abnormality, i.e. 45,XY,rob(14:21)(p10:q10)[20]. In the second phase of study, among 19 BM & PVB paired samples, 1 (5.26%) showed abnormal karyotype i.e. 45,X,-Y[3]/46,XY[47]. In the third phase of the study, 47 BM samples showed normal karyotype. Only 6 (9.52%) cases were found positive for stress cytogenetics. A negligible percentage showing cytogenetic abnormality in such a considerable number of AA cases indicates that routine cytogenetic analysis of AA patient is not essential. A significant percentage was positive for stress cytogenetics; suggestive for FA, even the patients were morphologically normal.

Benefit of high-dose daunorubicin in AML induction extends across cytogenetic and molecular groups.

Science.gov (United States)

Luskin, Marlise R; Lee, Ju-Whei; Fernandez, Hugo F; Abdel-Wahab, Omar; Bennett, John M; Ketterling, Rhett P; Lazarus, Hillard M; Levine, Ross L; Litzow, Mark R; Paietta, Elisabeth M; Patel, Jay P; Racevskis, Janis; Rowe, Jacob M; Tallman, Martin S; Sun, Zhuoxin; Luger, Selina M

2016-03-24

The initial report of the Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Cancer Research Group trial E1900 (#NCT00049517) showed that induction therapy with high-dose (HD) daunorubicin (90 mg/m(2)) improved overall survival in adults cytogenetics or aFLT3-ITD mutation. Here, we update the results of E1900 after longer follow-up (median, 80.1 months among survivors), focusing on the benefit of HD daunorubicin on common genetic subgroups. Compared with standard-dose daunorubicin (45 mg/m(2)), HD daunorubicin is associated with a hazard ratio (HR) for death of 0.74 (P= .001). Younger patients (cytogenetics (HR, 0.51;P= .03 and HR, 0.68;P= .01, respectively). Patients with unfavorable cytogenetics were shown to benefit from HD daunorubicin on multivariable analysis (adjusted HR, 0.66;P= .04). Patients with FLT3-ITD (24%),DNMT3A(24%), and NPM1(26%) mutant AML all benefited from HD daunorubicin (HR, 0.61,P= .009; HR, 0.62,P= .02; and HR, 0.50,P= .002; respectively). HD benefit was seen in the subgroup of older patients (50-60 years) with the FLT3-ITD or NPM1 mutation. Additionally, the presence of an NPM1 mutation confers a favorable prognosis only for patients receiving anthracycline dose intensification during induction. © 2016 by The American Society of Hematology.

Cytogenetic study of a pineocytoma

DEFF Research Database (Denmark)

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

1992-01-01

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

The Cerrado (Brazil plant cytogenetics database

Directory of Open Access Journals (Sweden)

Fernando Roa

2017-04-01

Full Text Available Cerrado is a biodiversity hotspot that has lost ca. 50% of its original vegetation cover and hosts ca. 11,000 species belonging to 1,423 genera of phanerogams. For a fraction of those species some cytogenetic characteristics like chromosome numbers and C-value were available in databases, while other valuable information such as karyotype formula and banding patterns are missing. In order to integrate and share all cytogenetic information published for Cerrado species, including frequency of cytogenetic attributes and scientometrics aspects, Cerrado plant species were searched in bibliographic sources, including the 50 richest genera (with more than 45 taxa and 273 genera with only one species in Cerrado. Determination of frequencies and the database website (http://cyto.shinyapps.io/cerrado were developed in R. Studies were pooled by employed technique and decade, showing a rise in non-conventional cytogenetics since 2000. However, C-value estimation, heterochromatin staining and molecular cytogenetics are still not common for any family. For the richest and best sampled families, the following modal 2n counts were observed: Oxalidaceae 2n = 12, Lythraceae 2n = 30, Sapindaceae 2n = 24, Solanaceae 2n = 24, Cyperaceae 2n = 10, Poaceae 2n = 20, Asteraceae 2n = 18 and Fabaceae 2n = 26. Chromosome number information is available for only 16.1% of species, while there are genome size data for only 1.25%, being lower than the global percentages. In general, genome sizes were small, ranging from 2C = ca. 1.5 to ca. 3.5 pg. Intra-specific 2n number variation and higher 2n counts were mainly related to polyploidy, which relates to the prevalence of even haploid numbers above the mode of 2n in most major plant clades. Several orphan genera with almost no cytogenetic studies for Cerrado were identified. This effort represents a complete diagnosis for cytogenetic attributes of plants of Cerrado.

Immunophenotypic characterisation and cytogenetic analysis of mesenchymal stem cells from equine bone marrow and foal umbilical cords during in vitro culture

Directory of Open Access Journals (Sweden)

Mazurkevych Anatoliy

2016-09-01

Full Text Available Introduction: The objective of the study was immunophenotypic and cytogenetic analysis of mesenchymal stem cells from equine bone marrow and foal umbilical cords during in vitro culture.

RHOEO SPATHACEA: A CYTOGENETICAL REVIEW

OpenAIRE

Datta Animesh K.; Mandal Aninda; Bhattacharya Arnab; Saha Aditi; Paul Rita

2012-01-01

A cytogenetical review is conducted on Rhoeo spathacea (Swartz) Stearn (monotypic genus of the family Commelinaceae) including conventional heterozygote (var. bicolor) form (2n=12) and a rare bivalent forming clone of var. concolor (2n=12) with an objective to provide cytological configurations explaining some of the important cytogenetical aspects, which is rather difficult in sexually propagated plant species due to sterility barriers. Cytological configurations documented may generate inte...

Cytogenetic analysis of CpG-oligonucleotide DSP30 plus Interleukin-2-Stimulated canine B-Cell lymphoma cells reveals the loss of one X Chromosome as the sole abnormality.

Science.gov (United States)

Reimann-Berg, N; Murua Escobar, H; Kiefer, Y; Mischke, R; Willenbrock, S; Eberle, N; Nolte, I; Bullerdiek, J

2011-01-01

Human and canine lymphoid neoplasms are characterized by non-random cytogenetic abnormalities. However, due to the low mitotic activity of the B cells, cytogenetic analyses of B-cell lymphoid proliferations are difficult to perform. In the present study we stimulated canine B-cell lymphoma cells with the immunostimulatory CpG-oligonucleotide DSP30 in combination with interleukin-2 (IL-2) and obtained an adequate number of metaphases. Cytogenetic analyses revealed the loss of one X chromosome as the sole cytogenetic aberration. Chromosome analysis of the corresponding blood showed a normal female karyotype. Monosomy X as the sole clonal chromosomal abnormality is found in human hematopoietic malignancies as well, thus the dog may serve as a promising animal model. Copyright © 2011 S. Karger AG, Basel.

Molecular measurement of BCR-ABL transcript variations in chronic myeloid leukemia patients in cytogenetic remission

Directory of Open Access Journals (Sweden)

Costa Juliana

2010-11-01

Full Text Available Abstract Background The monitoring of BCR-ABL transcript levels by real-time quantitative polymerase chain reaction (RT-qPCR has become important to assess minimal residual disease (MRD and standard of care in the treatment of chronic myeloid leukemia (CML. In this study, we performed a prospective, sequential analysis using RT-qPCR monitoring of BCR-ABL gene rearrangements in blood samples from 91 CML patients in chronic phase (CP who achieved complete cytogenetic remission (CCyR and major molecular remission (MMR throughout imatinib treatment. Methods The absolute level of BCR-ABL transcript from peripheral blood was serially measured every 4 to 12 weeks by RT-qPCR. Only level variations > 0.5%, according to the international scale, was considered positive. Sequential cytogenetic analysis was also performed in bone marrow samples from all patients using standard protocols. Results Based on sequential analysis of BCR-ABL transcripts, the 91 patients were divided into three categories: (A 57 (62.6% had no variation on sequential analysis; (B 30 (32.9% had a single positive variation result obtained in a single sample; and (C 4 (4.39% had variations of BCR-ABL transcripts in at least two consecutive samples. Of the 34 patients who had elevated levels of transcripts (group B and C, 19 (55.8% had a BCR-ABL/BCR ratio, 13 (38.2% patients had a 1% to 10% increase and 2 patients had a >10% increase of RT-qPCR. The last two patients had lost a CCyR, and none of them showed mutations in the ABL gene. Transient cytogenetic alterations in Ph-negative cells were observed in five (5.5% patients, and none of whom lost CCyR. Conclusions Despite an increase levels of BCR-ABL/BCR ratio variations by RT-qPCR, the majority of CML patients with MMR remained in CCyR. Thus, such single variations should neither be considered predictive of subsequent failure and nor an indication for altering imatinib dose or switching to second generation therapy. Changing of

Cytogenetic Resources and Information.

Science.gov (United States)

De Braekeleer, Etienne; Huret, Jean-Loup; Mossafa, Hossain; Dessen, Philippe

2017-01-01

The main databases devoted stricto sensu to cancer cytogenetics are the "Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer" ( http://cgap.nci.nih.gov/Chromosomes/Mitelman ), the "Atlas of Genetics and Cytogenetics in Oncology and Haematology" ( http://atlasgeneticsoncology.org ), and COSMIC ( http://cancer.sanger.ac.uk/cosmic ).However, being a complex multistep process, cancer cytogenetics are broadened to "cytogenomics," with complementary resources on: general databases (nucleic acid and protein sequences databases; cartography browsers: GenBank, RefSeq, UCSC, Ensembl, UniProtKB, and Entrez Gene), cancer genomic portals associated with recent international integrated programs, such as TCGA or ICGC, other fusion genes databases, array CGH databases, copy number variation databases, and mutation databases. Other resources such as the International System for Human Cytogenomic Nomenclature (ISCN), the International Classification of Diseases for Oncology (ICD-O), and the Human Gene Nomenclature Database (HGNC) allow a common language.Data within the scientific/medical community should be freely available. However, most of the institutional stakeholders are now gradually disengaging, and well-known databases are forced to beg or to disappear (which may happen!).

An informative constitutional cytogenetic marker found in a patient post bone marrow transplantation

Energy Technology Data Exchange (ETDEWEB)

Zaslav, A.L.; Graziano, J.; Ebert, R. [Albert Einstein College of Medicine, New Hyde Park, NY (United States)] [and others

1994-09-01

It is cytogenetically difficult to distinguish between host and donor cells in allogeneic bone marrow transplantation (BMT) individuals of the same sex. Here we describe a patient with a cytogenetic marker found after BMT. A 7-month-old male presented with leukemia which was CD7+, CD33+, HLADR+, and CD4-, CD8-, indicating a diagnosis of acute stem cell leukemia (ASCL). Cytogenetic analysis revealed an abnormal clone in all of the cells analyzed: 46,XY,t(2;8)(p11.2;q24),inv(9)(p13p24). This translocation is associated with B-cell acute lymphoblastic leukemia (ALL); thus, it was possible for this patient to develop B-cell ALL. The abnormal clone persisted along with normal 46,XY cells, and evolved in several of seven additional analyses. The patient was treated with two courses of chemotherapy and failed to attain cytogenetic remission. While in relapse, the patient received a BMT from his 3-year-old brother. Two weeks later, a different translocation was seen in all cells: 46,XY,t(3;12)(p21;q21). This result could be interpreted in two ways: (1) the structural abnormality was indicative of a newly evolved clone related to the patient`s disease; or (2) the donor was a balanced translocation carrier. Cytogenetic analysis of peripheral blood from the donor revealed the same translocation seen in the patient. Parental blood chromosomes were normal indicating that the donor carried a de novo balanced translocation. Subsequent chromosome analysis of both peripheral blood and BM from the patient revealed the presence of the translocation in all cells. De novo balanced translocations are rare and occur with a frequency of 1/2,000 live borns. The family received genetic counseling and was informed of the possible reproductive risks to translocation carriers. This unusual finding will serve as a useful cytogenetic marker to assist in monitoring the patient`s clinical course, i.e., chimerism and remission status.

Cytogenetic examination of cosmonauts for space radiation exposure estimation

Science.gov (United States)

Snigiryova, G. P.; Novitskaya, N. N.; Fedorenko, B. S.

2012-08-01

PurposeTo evaluate radiation induced chromosome aberration frequency in peripheral blood lymphocytes of cosmonauts who participated in flights on Mir Orbital Station and ISS (International Space Station). Materials and methodsCytogenetic examination which has been performed in the period 1992-2008 included the analysis of chromosome aberrations using conventional Giemsa staining method in 202 blood samples from 48 cosmonauts who participated in flights on Mir Orbital Station and ISS. ResultsSpace flights led to an increase of chromosome aberration frequency. Frequency of dicentrics plus centric rings (Dic+Rc) depend on the space flight duration and accumulated dose value. After the change of space stations (from Mir Orbital Station to ISS) the radiation load of cosmonauts based on data of cytogenetic examination decreased. Extravehicular activity also adds to chromosome aberration frequency in cosmonauts' blood lymphocytes. Average doses after the first flight, estimated by the frequency of Dic+Rc, were 227 and 113 mGy Eq for long-term flights (LTF) and 107 and 53 mGy Eq for short-term flights (STF). ConclusionCytogenetic examination of cosmonauts can be applied to assess equivalent doses.

Cytogenetic biodosimetry: what it is and how we do it.

Science.gov (United States)

Wong, K F; Siu, Lisa L P; Ainsbury, E; Moquet, J

2013-04-01

Dicentric assay is the international gold standard for cytogenetic biodosimetry after radiation exposure, despite being very labour-intensive, time-consuming, and highly expertise-dependent. It involves the identification of centromeres and structure of solid-stained chromosomes and the enumeration of dicentric chromosomes in a large number of first-division metaphases of cultured T lymphocytes. The dicentric yield is used to estimate the radiation exposure dosage according to a statistically derived and predetermined dose-response curve. It can be used for population triage after large-scale accidental over-exposure to ionising radiation or with a view to making clinical decisions for individual patients receiving substantial radiation. In this report, we describe our experience in the establishment of a cytogenetic biodosimetry laboratory in Queen Elizabeth Hospital, Hong Kong. This was part of the contingency plan for emergency measures against radiation accidents at nuclear power stations.

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

OpenAIRE

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 o...

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 ...

Cytogenetics of Post-Irradiation Mouse Leukaemia

Energy Technology Data Exchange (ETDEWEB)

Wald, N.; Pan, S.; Upton, A.; Brown, R. [Graduate School of Public Health, University of Pittsburgh, PA (United States); Oak Ridge National Laboratory, Oak Ridge, TN (United States)

1969-11-15

The interrelationship between radiation, cytogenetic abnormalities, and viruses in leukaemogenesis has been studied in the RF/Un mouse which develops a high incidence of granulocytic leukaemia on radiation exposure. A virus-like agent has been demonstrated in such leukaemic animals and the disease has been transmitted by passage of apparently acellular materials from irradiated primary animals to normal recipients. Pilot cytogenetic studies revealed consistent abnormal chromosome markers and modal shifts in both irradiated leukaemic animals and in non-irradiated animals developing leukaemia after passage injection. To define better the relationship between consistent bone-marrow chromosome aberrations and postirradiation primary and passaged leukaemia, 100 RF/Un mice were studied which were irradiated with 300 R of 250-kVp X-rays at 100 weeks of age and subsequently developed leukaemia. Eighty-seven had granulocytic leukaemia and in 72 of these, bone-marrow cytogenetic abnormalities were found. The distribution of-numerical and structural chromosome aberrations in 3225 cells studied are reviewed in derail. The correlation of specific aberrations to clinical and histopathologic findings has been attempted: Sequential passages of apparently cell-free material from the post-irradiation leukaemic mice into unirradiated RE/Un recipients and subsequent passages from leukaemic recipients were performed to observe the evolution of any initial chromosome markers and shifts in modal chromosome number in the passage generations. Two-hundred-thirty-six mice were inoculated with the material obtained either from primary post-irradiation leukaemic mice or from serially-passaged leukaemia cases. In the most extensive passaged line, 22 transfer generations containing 129 leukaemic mice were examined by clinical, histopathologic, -haematologic and cytogenetic procedures. Evolution of abnormal chromosome modes from 41 in the early passages to 39 chromosomes consistently after the 4

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade.

Science.gov (United States)

Mademont-Soler, Irene; Morales, Carme; Clusellas, Núria; Soler, Anna; Sánchez, Aurora

2011-08-01

Chromosome abnormalities are one of the main causes of congenital defects, and establishing their frequency according to the different clinical indications for invasive procedure during pregnancy is especially important for genetic counselling. We analyzed the results of 29,883 amniotic fluid samples referred to our laboratory for cytogenetic studies from 1998 to 2009, which constitutes the largest series of cytogenetic analysis performed on amniotic fluid samples in Spain. The number of samples received tended to increase from 1998 to 2005, but after 2005 it decreased substantially. Cytogenetic results were obtained in 99.5% of the samples, and the detected incidence of chromosome abnormalities was 2.9%. Of these, 48.1% consisted of classical autosomal aneuploidies, trisomy 21 being the most frequent one. The main clinical indications for amniocentesis were positive prenatal screening and advanced maternal age, but referral reasons with highest positive predictive values were, excluding parental chromosome rearrangement, increased nuchal translucency (9.2%) and ultrasound abnormalities (6.6%). In conclusion, performing the karyotype on amniotic fluid samples is a good method for the detection of chromosome abnormalities during pregnancy. The number of cytogenetic studies on amniotic fluid has now decreased, however, due to the implementation of first trimester prenatal screening for the detection of Down syndrome, which allows karyotyping on chorionic villus samples. Our results also show that both ultrasound abnormalities and increased nuchal translucency are excellent clinical indicators for fetal chromosome abnormality. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst.

Science.gov (United States)

Richkind, Kathleen E; Mortimer, Errol; Mowery-Rushton, Patricia; Fraire, Armando

2002-09-01

We report the results of cytogenetic analysis of a case of unicameral bone cyst with a t(16;20(p11.2;q13) present as the sole abnormality. To our knowledge, this is only the second report of a cytogenetically characterized tumor of this type.

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 (pcytogenetics. CyR was achieved in 32% of the 281 evaluable patients with abnormal cytogenetics, was complete (CCyR) in 71 (25.3%) patients. We found no correlation between hematological response and cytogenetic response and 21% of the patients with CCyR did not achieve morphological response. In the 281 patients, we found no impact 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.

Molecular cytogenetic characterization of a new wheat Secale ...

Indian Academy of Sciences (India)

A stable, highly fertile wheat Secale africanum substitution line LF24, derived from the F7 generation of a cross between Mianyang11 (MY11) and Triticum durum, S. africanum amphiploid (YF) was identified through molecular cytogenetic analysis. Application of C-banding, in situ hybridization and molecular markers ...

Cytogenetics in medical practice | Nelson | South African Medical ...

African Journals Online (AJOL)

A cytogenetics and tissue culture laboratory is an essential component of a medical genetics department. Chromosome analysis provides a definite answer in many cases where clinical diagnosis is in doubt, and supplies information on which counselling may be based. Cultured cells from different body tissues may be the ...

Molecular cytogenetic identification of a wheat–Thinopyrum ...

Indian Academy of Sciences (India)

FANG HE

... have supported the development of several wheat germplasms that are in use ... Li, formerly of the Northwest Institute of Botany, Chinese. Academy of Sciences ... Cytogenetic analysis. Seeds were germinated in Petri dishes maintained at 4.

[Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

Science.gov (United States)

Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

2017-02-10

To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

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.

Cytogenetic analysis for radiation dose assessment in the medical nuclear workers

International Nuclear Information System (INIS)

Milacic, S.; Jovicic, D.; Rakic, B.; Djokovic, J.

2009-01-01

Radionuclide is used in medicine for laboratory research, laboratory testing for enzymes, hormones, medicines in vitro and in vivo in nuclear medicine (NM) for the diagnosis and treatment of diseases. Commissioners, who performed the application radionuclide (RN), are nuclear medicine specialists, senior medical and radiological technicians, nurses and laboratory technicians. They are daily exposed to ionizing irradiations, from outside sources, as well as inside if they were to contamination. Medical nuclear workers (MNW) are exposed to ionizing irradiation, working with radio nuclides. MNW are periodically reviewed for contamination verified. Cytogenetic analysis of peripheral-blood lymphocytes (Ly) is the most sensitive tests for detecting a clinical biologic response to ionizing radiation. The frequency of chromosomal aberrations (f ca) in peripheral circulating lymphocytes (Ly) correlates with the dose received. (author) [sr

Molecular cytogenetics for acute megakaryocytic leukemia diagnosis

Directory of Open Access Journals (Sweden)

E. A. Matveeva

2014-07-01

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

Molecular cytogenetics for acute megakaryocytic leukemia diagnosis

Directory of Open Access Journals (Sweden)

E. A. Matveeva

2012-01-01

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

Cytogenetical effects of low doses: results obtained by N.N.Luchik and present-day problems

International Nuclear Information System (INIS)

Geras'kin, S.A.; Sevan'kaev, A.V.

1996-01-01

The analysis of present status of the problem of quantitative assessment of cytogenetic effects low is presented. The importance of works of N.V. Luchik is demonstrated for the development of this field of radiobiology. The results of the author's own experimental and theoretical research on the regularities of induction of cytogenetical damage by low doses of ionising radiation are presented

Cytogenetics of jaw cysts - a pilot study.

Science.gov (United States)

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

2012-07-01

The pathogenesis of cysts that arise in the jaws is still not certain, and the underlying mechanisms of epithelial proliferation are not fully understood. Cysts of the jaw may involve a reactive, inflammatory, or neoplastic process. Cytogenetics, the study of the number and structure of chromosomes, has provided valuable information about the diagnosis, prognosis, and targeted treatment in many cancers, including oral squamous cell carcinoma. Cytogenetics can also provide information about the possible aetiology or neoplastic potential of a lesion, though to our knowledge no studies of this technique have been used for cysts in the jaws. In this pilot study we used cytogenetics in a series of 10 cysts (3 radicular, 4 dentigerous, 2 of the nasopalatine duct, and 1 dermoid). In all cases we found normal karyotypes. Further work and larger numbers are needed for a definitive study, but we can hypothesise from this pilot study that these cysts do not have cytogenetic aberrations and so have no neoplastic potential. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Sample tracking in an automated cytogenetic biodosimetry laboratory for radiation mass casualties

International Nuclear Information System (INIS)

Martin, P.R.; Berdychevski, R.E.; Subramanian, U.; Blakely, W.F.; Prasanna, P.G.S.

2007-01-01

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 medical

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

Cytogenetic variability in pinus sylvestris L. populations experiencing anthropogenic influence

International Nuclear Information System (INIS)

Oudalova, A.; Geras'kin, S.; Vasiliev, D.; Dikarev, V.

2004-01-01

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

Cytogenetic variability in pinus sylvestris L. populations experiencing anthropogenic influence

Energy Technology Data Exchange (ETDEWEB)

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

2004-07-01

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

Cytogenetic analysis of 153 Sm-EDTMP in peripheral lymphocytes from patients with bone cancer metastasis

International Nuclear Information System (INIS)

Silva, M.A. da; Suzuki, M.F.; Rogero, J.R.; Okazaki, K.; Guimaraes, M.I.C.C.; Buchpiguel, C.A.

2002-01-01

The 153 Sm-EDTMP is a radiopharmaceutical used in nuclear medicine with promising results for the relief of metastatic pain. Therefore, there are few knowledge about the effects of 153 Sm-EDTMP at cellular level. The present study was conducted with the aim of evaluating the cytogenetic effects of 153 Sm-EDTMP in peripheral lymphocytes from patients with bone metastasis (with and without previous radio and/or chemotherapy) by the chromosome aberration technique. For that, the blood samples were collected before and one hour after the endovenous administrations of 153 Sm-EDTMP (mean activity of 42.53 ± 5.31 MBq/kg body weight), taking into account the rapid blood clearance. The principal types of structural chromosome aberrations found gaps and breaks, acentric fragments centric rings, double minutes and dicentrics. The statistical analysis showed that the group submitted to previous radio and chemotherapy before 153 Sm-EDTMP administration showed significant difference in chromosome aberrations frequency one hour after the treatment. The analysis of the chromosome modal number and the kinetics of cellular cycle showed no statistical difference among the groups, suggesting that the treatment with 153 Sm-EDTMP, did not influence these parameters. The obtained data showed that the therapy with 153 Sm-EDTMP induced a few quantity of cytogenetic damages in peripheral lymphocytes one hour after its administration in patients, although, theoretically, a long term stochastic effect cannot be disregarded. (author)

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

2014-03-20

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. 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. 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. 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.

CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens

Directory of Open Access Journals (Sweden)

MacKinnon Ruth N

2012-02-01

Full Text Available Abstract Background The analysis of nucleic acids is limited by the availability of archival specimens and the quality and amount of the extracted material. Archived cytogenetic preparations are stored in many laboratories and are a potential source of total genomic DNA for array karyotyping and other applications. Array CGH using DNA from fixed cytogenetic preparations has been described, but it is not known whether it can be used for SNP arrays. Diagnostic bone marrow specimens taken during the assessment of hematological malignancies are also a potential source of DNA, but it is generally assumed that DNA must be extracted, or the specimen frozen, within a day or two of collection, to obtain DNA suitable for further analysis. We have assessed DNA extracted from these materials for both SNP array and array CGH. Results We show that both SNP array and array CGH can be performed on genomic DNA extracted from cytogenetic specimens stored in Carnoy's fixative, and from bone marrow which has been stored unfrozen, at 4°C, for at least 36 days. We describe a procedure for extracting a usable concentration of total genomic DNA from cytogenetic suspensions of low cellularity. Conclusions The ability to use these archival specimens for DNA-based analysis increases the potential for retrospective genetic analysis of clinical specimens. Fixed cytogenetic preparations and long-term refrigerated bone marrow both provide DNA suitable for array karyotyping, and may be suitable for a wider range of analytical procedures.

Role of DNA repair in repair of cytogenetic damages. Slowly repaired DNA injuries involved in cytogenetic damages repair

International Nuclear Information System (INIS)

Zaichkina, S.I.; Rozanova, O.M.; Aptikaev, G.F.; Ganassi, E.Eh.

1989-01-01

Caffeine was used to study the kinetics of cytogenetic damages repair in Chinese hamster fibroblasts. Its half-time (90 min) was shown to correlate with that of repair of slowly repaired DNA damages. The caffeine-induced increase in the number of irreparable DNA damages, attributed to inhibition of double-strand break repair, is in a quantitative correlation with the effect of the cytogenetic damage modification

Shortening of culture time in conventional cytogenetic dosimetry

International Nuclear Information System (INIS)

Lamadrid, Ana I.; Gonzalez, Jorge E.; Romero, Ivonne; Garcia, Omar; Roy, Laurence

2008-01-01

Conventional cytogenetic dosimetry based on chromosome aberration in metaphases is a 'gold standard' of bio-dosimetry techniques for radiation dose assessment. This method is laborious and time consuming, the culturing process requires about 48 hours to obtain a satisfactory number of lymphocytes in mitosis. The current approach to reduce the dose estimation time by cytogenetic dosimetry is the preliminary estimation of dose counting only 50 metaphases. Another possibility is to reduce the culture time. The possibility of reduce the culture time under 48 hours adding Calyculin A has been suggested recently. In the present study we tested shorter times using Calyculin A and considering the G2/M-PCC index as culture quality indicator. Peripheral blood from healthy individuals was irradiated and then maintained at 37 C degrees for 2 hours allowing to act the cellular reparation mechanisms, lymphocytes were culture in RPMI 1640 supplemented with foetal calf serum and phytohemagglutinin. Colcemid was added 24 hours after cultures started and Calyculin A was added for the last hour. The cells were collected by centrifugation between 30 to 48 hours. The cells were treated with a hypotonic solution and the fixed cells dropped onto slides. The slides were stained with Giemsa. The incidence of metaphases with chromosomes well defined was scored. Two operators participated to the scoring according the same criteria. The results were analyzed to comparing the G2/M-PCC index relatives to achieve the shortest culture duration. The culture time reduction to 40 hours gives enough G2/M-PCC cells for dose estimation analysis. Lower culture times produced very low G2/M-PCC index. (author)

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.

Cytogenetic studies on some Nigerian species of Solanum L ...

African Journals Online (AJOL)

Cytogenetic studies to determine the chromosome number, structure and behaviour of some species of Solanum in Nigeria were carried out. Attempt was also made to induce polyploidy in the species. Comparative analysis of the cytological behaviour of the diploid and polyploid cytotypes was made. The studies show that ...

Cytogenetic highlights and transitions.

Science.gov (United States)

Spinner, Nancy B

2016-06-01

Medical cytogenetics, genetic diagnostics, and medical genetics had their origins in the late 1950's, as evaluation of human chromosomes became possible, and it was recognized that chromosomal abnormalities could cause a variety of clinical phenotypes. Dr. Laird Jackson began his medical and scientific career just as this field was emerging and he was an early adopter and driver of several key trends in the development of these fields, notably in the area of prenatal diagnostics. Laird's greatest impact was in his work to demonstrate the clinical utility of amniocentesis, chorionic villous sampling, and chromosomal microarray analysis for prenatal diagnosis. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Long Term Storage of cytogenetic changes in liquidators of Chernobyl

International Nuclear Information System (INIS)

Karpov, V. B.

2004-01-01

At present chromosome aberration analysis in lymphocytes as well as micronucleus assay are most reliable methods of bio indication of radiation effects. The problem of persistent of cytogenetic changes during the long term after exposure is very important. The cytogenetic studies of liquidators residents of St. Petersburg and region revealed that the average chromosome aberration rate 4-5 years after the accident constitutes 4.94±0.38, number of aberrant cells was 4.82±0.36, dicentrics -0.23±0.10 per 100 cells, micronucleus number -46.1±2.1 per 100 cells that is significantly higher than in control group. dispersion analysis confirms the reported level of external exposure effects on chromosome aberration rate (?=0.04) in this group of liquidators. In 73 persons from the group of high risk participants of nuclear tests, nuclear submarine personnel 8-45 years after average number of chromosome aberrations was 6.5±0.32; dicentrics - 0.64±0.10, centric rings- 0.04±0.02 per 100 cells, for micronuclei -51.4±2.82 per thousand cells, that is significantly higher than in control group (p<0.01). In 45.2% cases the aberration markers (disentrics and centric rings) were found. The late cytogenetic effects were observed after decades and possibility to use these indicators for long term diagnosis is now under consideration. (Author)

Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.

Science.gov (United States)

Chauhan, Pooja; Jaiswal, Sushil Kumar; Lakhotia, Anjali Rani; Rai, Amit Kumar

2016-09-01

In the present study, we reported two cases of TS with mosaic ring X chromosome showing common clinical characteristics of TS like growth retardation and ovarian dysfunction. The purpose of the present study was to cytogenetically characterize both cases. Whole blood culture and G-banding were performed for karyotyping the cases following standard protocol. Origin of the ring chromosome and degree of mosaicism were further determined by fluorescence in situ hybridization (FISH). Breakpoints and loss of genetic material in formation of different ring X chromosomes r (X) in cases were determined with the help of cytogenetic microarray. Cases 1 and 2 with ring chromosome were cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X chromosomes were found to be ~75 and ~95 Mb in cases 1 and 2, respectively, using visual estimation as part of cytogenetic observation. In both cases, we observed breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 and Xq22.1 compared to regions in previously reported cases associated with ovarian dysgenesis. Our observation agrees with the fact that despite of large heterogeneity, severity of the cases with intact X-inactive specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq deletion having crucial genes involved directly or indirectly in various physiological involving ovarian cyclicity.

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

Indian Academy of Sciences (India)

2014-08-18

Aug 18, 2014 ... RESEARCH NOTE. Physical location of SSR regions and cytogenetic instabilities in Pinus ... first cytogenetic study in Scots pine using SSRs in FISH experiments. ... Science, Mannheim, Germany) according to manufacturer's.

Cytogenetic and morphological assessment of bone marrow in therapeutic irradiation

International Nuclear Information System (INIS)

Sharma, U.; Das, B.P.; Singhal, R.M.; Radhakrishnaiah, Y.; Rath, G.K.; Padmaraju, I.; Bhargava, V.L.

1978-01-01

Morphological and cytogenetic study from the irradiated bone marrow, in 59 cases of radically irradiated carcinoma cervix was done. Regeneration of a marrow adjudged on cellular morphology was after 12 months whereas cytogenetic studies revealed it at the end of three months. It is concluded that cytogenetic study is a more sensitive parameter in assessing the recovery of bone marrow. (author)

Cytogenetic Effects of Low Dose Radiation in Mammalian Cells Analysis of the Phenomenon Hypersensitivity and Induced Radioresistence

CERN Document Server

Shmakova, N L; Nasonova, E A; Krasavin, E A; Rsjanina, A V

2001-01-01

The induction of cytogenetic damage after irradiation of chinese hamster cells and human melanoma cells within dose range 1-200 cGy was studied. The anaphase and metaphase analysis of chromosome damage and micronuclei test were applied. The hypersensitivity (HRS) at doses below 20 cGy and the increased radioresistence at higher doses (IR) were shown with all cytogenetic criteria for both cell lines. The phenomenon of HRS/IR was reproduced in synchronic as well as in asynchronic population of chinese hamster cells. This fact shows that HRS was caused by high radiosensitivity of all cells and can not be explained by any differential sensitivity of cells in different phases of the cell cycle. So it was supposed that the increasing radioresistence is determined by the inclusion of the inducible repair processes in all cells. This conclusion agress with the fact that there was no evidence of HRS on dose-effect curves and that some part of pre-existent damage was repaired after preliminary irradiation with low dose...

Dynamics of cytogenetic indexes of agriculture animals dwelling on the Semipalatinsk test site territory

International Nuclear Information System (INIS)

Mukusheva, M.K.; Sejsebaev, A.T.; Karabalin, B.K.; Tusupbaev, V.I.; Zhapbasov, R.Zh.

2001-01-01

Aim of the work is analysis of genetic processes taking place in the agricultural animal populations exposed to constant radiation due to increased radiation background in their dwelling places. By the cytogenetic methods the sheep, cattle and horses were examined. It was revealed cytogenetic effect manifested in form of a high genome genetic instability level for studied animals. It is suggested, that the effect is caused with low chronic ionizing radiation doses exposure on the agricultural animals somatic cells

Cytogenetic profile of aplastic anaemia in Indian children.

Science.gov (United States)

Gupta, Vineeta; Kumar, Akash; Saini, Isha; Saxena, Ajit Kumar

2013-03-01

Aplastic anaemia is a rare haematological disorder characterized by pancytopenia with a hypocellular bone marrow. It may be inherited/genetic or acquired. Acquired aplastic anaemia has been linked to many drugs, chemicals and viruses. Cytogenetic abnormalities have been reported infrequently with acquired aplastic anaemia. Majority of the studies are in adult patients from the West. We report here cytogenetic studies on paediatric patients with acquired aplastic anaemia seen in a tertiary care hospital in north India. Patients (n=71, age 4-14 yr) were diagnosed according to the guidelines of International Agranulocytosis and Aplastic Anaemia Study. Conventional cytogenetics with Giemsa Trypsin Giemsa (GTG) banding was performed. Karyotyping was done according to the International System for Human Cytogenetics Nomenclature (ISCN). Of the 71 patients, 42 had successful karyotyping where median age was 9 yr; of these 42, 27 (64.3%) patients had severe, nine (21.4%) had very severe and six (14.3%) had non severe aplastic anaemia. Five patients had karyotypic abnormalities with trisomy 12 (1), trisomy 8 (1) and monosomy 7 (1). Two patients had non numerical abnormalities with del 7 q - and t (5:12) in one each. Twenty nine patients had uninformative results. There was no difference in the clinical and haematological profile of patients with normal versus abnormal cytogenetics although the number of patients was small in the two groups. 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.

Molecular cytogenetic in the familial cancers

International Nuclear Information System (INIS)

Cermak, M.

2015-01-01

The development of cancer diseases is accompanied by number of genetic changes at different levels of the genome. Some of these changes are still subject of research but others are already known in such an extent that they are associated with a specific type of malignity, the development, or treatment possibilities. The cancer genetics dispose of wide range of techniques, with reliable detection of the causal changes. Starting the molecular cytogenetics has launched a new era in diagnostics of genetic aberrations. Fluorescence in situ hybridization (FISH) definitely changed cytogenetic world from black and white to color one and set the foundation of modern investigative methods such as M-FISH, CGH, array CGH and many others. Successively all these methodologies have become a part of routine cancer diagnostics thorough the world. Actually, when much attention is given mostly to submicroscopic changes in DNA supposed as predispositions to various malignancies, the molecular cytogenetics is trying to success in competition of modern highly sensitive molecular biology methods. (author)

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.

Cytogenetic analysis and response to ionizing radiations in a girl with severe muscular dystrophy

International Nuclear Information System (INIS)

Meola, G.; Barsi, L.; Velicogna, M.; Scarlato, G.; Fuhrman-Conti, A.M.

1988-01-01

Duchenne Muscular Dystrophy (DMD) is a severe X-linked condition characterized by a progressive degeneration of skeletal muscle. Mild clinical symptoms have been reported in female carriers of the DMD gene with normal karyotypes, this occurs in about 8% of DMD carriers. The degree of manifestation ranges from pseudohypertrophy of the calf muscles to moderate myopathy with proximal muscle wasting and weakness. Such manifestations can be explained on the basis of preferential inactivation of the X chromosome bearing the normal allele. The authors describe the cytogenetic analysis and the response to ionizing radiations in a severely affected girl exhibiting clinical, neurophysiological, biochemical, and histological findings of DMD

Role of DNA repair in repair of cytogenetic damages. Contribution of repair of single-strand DNA breaks to cytogenetic damages repair

International Nuclear Information System (INIS)

Rozanova, O.M.; Zaichkina, S.I.; Aptikaev, G.F.; Ganassi, E.Eh.

1989-01-01

The comparison was made between the results of the effect of poly(ADP-ribosylation) ingibitors (e.g. nicotinamide and 3-aminobenzamide) and a chromatin proteinase ingibitor, phenylmethylsulfonylfluoride, on the cytogenetic damages repair, by a micronuclear test, and DNA repair in Chinese hamster fibroblasts. The values of the repair half-periods (5-7 min for the cytogenetic damages and 5 min for the rapidly repaired DNA damages) and a similar modyfying effect with regard to radiation cytogenetic damages and kynetics of DNA damages repair were found to be close. This confirms the contribution of repair of DNA single-strand breaks in the initiation of structural damages to chromosomes

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

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

NARCIS (Netherlands)

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

2010-01-01

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

The value of cytogenetic monitoring versus film dosimetry in the hot zone of a nuclear power plant

International Nuclear Information System (INIS)

Kubelka, D.; Fucic, A.; Milkovic-Kraus, S.

1992-01-01

Cytogenetic analysis was carried out in 41 workers prior to and following regular maintenance work in a nuclear power plant. Although film dosimetry did not show the maximal annual permitted dose in any of the examined subjects, cytogenetic analysis carried out following the work detected dicentric chromosomes in peripheral blood lymphocytes of 20 workers. According to our findings smoking habits and previous exposure to ionizing radiation had no effect on the increased number of chromosomal aberrations. (author). 23 refs.; 1 tab

Cytogenetic Alterations in Multiple Myeloma: Prognostic Significance and the Choice of Frontline Therapy.

Science.gov (United States)

Stella, Flavia; Pedrazzini, Estela; Agazzoni, Mara; Ballester, Oscar; Slavutsky, Irma

2015-01-01

Multiple myeloma tumor cells demonstrate multiple and often complex genetic lesions as evaluated by standard cytogenetic/FISH studies. Over the past decade, specific abnormalities have been associated with standard or high-risk clinical behavior and they have become strong prognostic indicators. Further, as evidenced by recent randomized clinical trials, the choice of front-line therapy (transplant vs. no transplant, inclusion of novel drugs such as bortezomib, thalidomide, and lenalidomide) may be able to overcome the adverse effect of high-risk genetic lesions.

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

International Nuclear Information System (INIS)

Aleksanin, S.; Slozina, N.; Neronova, E.; Smoliakov, E.

2011-01-01

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.

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.

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

NARCIS (Netherlands)

P.J.P. de Vree (Paula); M.E.H. Simon (Marleen); M.F. van Dooren (Marieke); G.H.T. Stoevelaar (Gerda); J.T.W. Hilkmann (José); M.A. Rongen (Michel); G.C.M. Huijbregts (Gido); A.J.H.M. Verkerk (Annemieke); P. Poddighe (Pino)

2009-01-01

textabstractBackground. 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

The impact of the depth of field on cytogenetic image quality in scanning microscopy

Science.gov (United States)

Qiu, Yuchen; Chen, Xiaodong; Li, Yuhua; Zheng, Bin; Li, Shibo; Zhang, Roy R.; Chen, Wei R.; Liu, Hong

2011-03-01

The purpose of this study is to investigate the impact of the depth of field (DOF) of microscopic systems on cytogenetic image qualities. Due to the narrow DOF of high magnification, large numerical aperture (N.A.) objective lenses, random vibrations of even high precision scanning stages may result in large amount of off focused images. In this study, the DOF of microscopic systems with various objective magnifications/numerical apertures (N.A.) is first measured using standard resolution targets. The impact of DOF on cytogenetic image qualities is then subjectively evaluated with clinical samples, by comparing the band shape and sharpness of analyzable chromosomes. For a specific digital microscopic system with 100× objective lens (N.A. = 1.25), the results of observational studies revealed that chromosomal bands are still recognizable when the images are obtained approximately +/- 1 μm from the focusing plane. The chromosomal bands become fuzzy and unrecognizable when the system is 1.5 μm away from the focusing position. The results of this preliminary experimental study may provide useful design trade-off parameters for developing optimal scanning microscopic systems for cytogenetic applications.

Cytogenetic Examination of South American Tapirs, Tapirus Terrestris (Perissodactyla, Tapiridae, from the Wroclaw Zoological Garden

Directory of Open Access Journals (Sweden)

Kosowska B.

2015-12-01

Full Text Available Cytogenetic Examination of South American Tapirs, Tapirus terrestris (Perissodactyla, Tapiridae from the Wroclaw Zoological Garden. Kosowska, B., Strzała, T., Moska, M., Ratajszczak, R., Dobosz, T. - Seven lowland tapirs (Tapirus terrestris from Wrocław ZOO (three females and four males, differing from each other with exterior and sexual behaviour were verified with cytogenetic analysis in order to check their taxonomic status. Cytogenetic analysis was done using two alternative methods of blood collection: 1 conventionally with venepuncture, and 2 with blood sucking bugs from the Reduviidae family. Lymphocytes capable of growing were obtained only with conventional method of blood sampling. Karyotypes and karyograms of all analyzed tapirs were created using classical cytogenetic methods of chromosomes staining. All possessed karyograms had diploid chromosome number equal 80 (2n = 80. Homologous chromosomes did not differ between each other with quantity, size, centromeres location, length of arms, G bands and all were classified as proper karyograms of Tapirus terrestris species representatives. The X chromosomes as well as the first pair of chromosomes (both metacentric, were the largest among all analyzed, respectively. All remaining 38 pairs of chromosomes were acrocentric with Y chromosome as the smallest one (in males’ karyograms. Blood collected with blood sucking bugs proved to be unsuitable for cell culture. None of the seven established cultures was effective as lymphocytes obtained with this method did not show growth potential in prepared media. Thus, blood collected from the tapirs via Dipetalogaster maxima species did not show usefulness for cytogenetic studies due to the inability of cells to proliferation, even after a relatively short period of time elapsed since the blood sampling (1 to 2 hours.

Meiosis in hematological malignancies. In situ cytogenetic morphology

OpenAIRE

Logothetou-Rella, H.

1996-01-01

This is the first study on the in situ cytogenetic morphology and analysis of malignant bone marrow cells, growing attached on a culture vessel surface. It was documented that bone marrow cells, in different types of hematological malignancies, divide by meiosis giving rise to a non-repetitive aneuploidy. Male and female gametes are formed by meiosis and fertilization occurs in a life cycle of: Fertilization Meiosis Gametes - Embryo - Gametes Immature a...

Diagnostic and Prognostic Utility of Fluorescence In situ Hybridization (FISH) Analysis in Acute Myeloid Leukemia.

Science.gov (United States)

Gonzales, Patrick R; Mikhail, Fady M

2017-12-01

Acute myeloid leukemia (AML) is a hematologic neoplasia consisting of incompletely differentiated hematopoietic cells of the myeloid lineage that proliferate in the bone marrow, blood, and/or other tissues. Clinical implementation of fluorescence in situ hybridization (FISH) in cytogenetic laboratories allows for high-resolution analysis of recurrent structural chromosomal rearrangements specific to AML, especially in AML with normal karyotypes, which comprises approximately 33-50% of AML-positive specimens. Here, we review the use of several FISH probe strategies in the diagnosis of AML. We also review the standards and guidelines currently in place for use by clinical cytogenetic laboratories in the evaluation of AML. Updated standards and guidelines from the WHO, ACMG, and NCCN have further defined clinically significant, recurring cytogenetic anomalies in AML that are detectable by FISH. FISH continues to be a powerful technique in the diagnosis of AML, with higher resolution than conventional cytogenetic analysis, rapid turnaround time, and a considerable diagnostic and prognostic utility.

Anti-leukemic therapies induce cytogenetic changes of human bone marrow-derived mesenchymal stem cells.

Science.gov (United States)

Yeh, Su-Peng; Lo, Wen-Jyi; Lin, Chiao-Lin; Liao, Yu-Min; Lin, Chen-Yuan; Bai, Li-Yuan; Liang, Ji-An; Chiu, Chang-Fang

2012-02-01

Both bone marrow hematopoietic cells (BM-HCs) and mesenchymal stem cells (BM-MSCs) may have cytogenetic aberrations in leukemic patients, and anti-leukemic therapy may induce cytogenetic remission of BM-HCs. The impact of anti-leukemic therapy on BM-MSCs remains unknown. Cytogenetic studies of BM-MSCs from 15 leukemic patients with documented cytogenetic abnormalities of BM-HCs were investigated. To see the influence of anti-leukemic therapy on BM-MSCs, cytogenetic studies were carried out in seven of them after the completion of anti-leukemic therapy, including anthracycline/Ara-C-based chemotherapy in two patients, high-dose busulfan/cyclophosphamide-based allogeneic transplantation in two patients, and total body irradiation (TBI)-based allogeneic transplantation in three patients. To simulate the effect of TBI in vitro, three BM-MSCs from one leukemic patient and two normal adults were irradiated using the same dosage and dosing schedule of TBI and cytogenetics were re-examined after irradiation. At the diagnosis of leukemia, two BM-MSCs had cytogenetic aberration, which were completely different to their BM-HCs counterpart. After the completion of anti-leukemic therapy, cytogenetic aberration was no longer detectable in one patient. Unexpectedly, BM-MSCs from three patients receiving TBI-based allogeneic transplantation acquired new, clonal cytogenetic abnormalities after transplantation. Similarly, complex cytogenetic abnormalities were found in all the three BM-MSCs exposed to in vitro irradiation. In conclusion, anti-leukemic treatments induce not only "cytogenetic remission" but also new cytogenetic abnormalities of BM-MSCs. TBI especially exerts detrimental effect on the chromosomal integrity of BM-MSCs and highlights the equal importance of investigating long-term adverse effect of anti-leukemic therapy on BM-MSCs as opposed to beneficial effect on BM-HCs.

Radiation cytogenetic in vitro studies on human donors in the development of a suitable biological dosimeter

International Nuclear Information System (INIS)

Barjaktarovic, N.

1988-02-01

The final report is on the work carried out under the Agency research contract 3173/RB entitled ''Radiation cytogenetic in vitro studies on human donors in the development of a suitable biological dosimeter'', at the Clinical Hospital Centre ''Zvezdara'' in Belgrade, Yugoslavia. In co-operation and co-ordination dissemination with an international team of cytogeneticists under the IAEA CRP, the development of a suitable biological dosimetry system has been accomplished at the national institute to assist reliably in the absorbed radiation-dose assessment of accidentally-over-exposed personnel. The quantitative yield of asymmetrical chromosomal aberrations, such as dicentrics, rings and fragments consequent to exposure(s) to radiation overdose, help in such estimation of vital prognostic and radiation protection significance. This biological dosimeter system is particularly essential where the exposed person was not wearing any physical dosemeter during the accident. Prerequisite for implementation of an effective biological dosimetry is the availability of a reliable standard dose-response curve and an adherence to a protocol for lymphocytic chromosome analysis in first division phase of lymphocytes. The validation of the reported biological dosimeter is established through its successful analysis of a simulated over-exposure incident, with the associated error of less than 10%. Analytical cytogenetic methods for whole- and part-body acute exposures have been discussed. Part of the results have been reported in the publications under the CRP concerned

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

Oligo-based High-resolution aCGH Analysis Enhances Routine Cytogenetic Diagnostics in Haematological Malignancies.

Science.gov (United States)

Kjeldsen, Eigil

2015-01-01

The purpose of the present study was to evaluate the detection rate of genomic aberrations in haematological malignancies using oligobased array-CGH (oaCGH) analysis in combination with karyotyping and fluorescence in situ hybridization (FISH) analyses, and its feasibility in a clinical pragmatic approach. The 4x180K Cancer Cytochip array was applied in 96 patients with various haematological malignancies in a prospective setting and in 41 acute myeloid leukemia (AML) patients retrospectively. Combined use of oaCGH analysis and karyotyping improved the overall detection rate in comparison to karyotyping-alone and vice versa. In cases with normal karyotypes oaCGH analysis detected genomic aberrations in 66% (39/60) of cases. In the group of simple karyotypes oaCGH analysis extended karyotypic findings in 39% (12/31) while oaCGH analysis extended the karyotypic findings in 89% (39/44) of cases with complex karyotypes. In 7% (5/75) of cases oaCGH analysis failed in detecting the observed abnormalities by karyotyping. oaCGH analysis is a valuable asset in routine cytogenetics of haematological malignancies. Copyright© 2015, International Institute of Anticancer Research (Dr. John G. Delinasios), All rights reserved.

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...

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

Science.gov (United States)

2010-07-01

... Genetic Toxicity § 798.5395 In vivo mammalian bone marrow cytogenetics tests: Micronucleus assay. (a... and documented with data, only this one time point need be sampled. (ii) If a repeated treatment... slides, spread as a smear and stained. (2) Analysis. Slides shall be coded before microscopic analysis...

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

Science.gov (United States)

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

2016-01-01

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

Cytogenetic effects of in vitro irradiation of human spermatozoa

International Nuclear Information System (INIS)

Miro, R.; Genesca, A.; Alvarez, R.; Tusell, L.; Ponsa, I.

1997-01-01

The effects of human mutagens, clastogens and aneugens have been studied almost exclusively in somatic tissues. However, currently there is a considerable discussion about the potential of ionizing radiation to induce heritable germ cell mutations. While the various viewpoints remain controversial. One of the aims of germ cell cytogenetic studies must be to improve the ability to identify and estimate the actual genetic risk in humans. One way to assess the risk of transmission of genetic anomalies by men occupationally or accidentally exposed to ionizing radiation is to determine whether there is a dose-related genetic damage in human spermatozoa. Cytogenetic analysis of human spermatozoa is possible after interspecific in vitro fertilization between zona pellucida-free hamster oocytes and human spermatozoa. Using this assay system we have analyzed the radiation induction of structural chromosome abnormalities in sperm derived complements at the first embryo cleavage, as well as the radiation induction of micronuclei and aneuploidy in two-cell hybrid embryos. (author)

Discrepancy of cytogenetic analysis in Western and eastern Taiwan.

Science.gov (United States)

Chang, Yu-Hsun; Chen, Pui-Yi; Li, Tzu-Ying; Yeh, Chung-Nan; Li, Yi-Shian; Chu, Shao-Yin; Lee, Ming-Liang

2013-06-01

This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies. From 2004 to 2009, pregnant women who underwent amniocentesis in their second trimester at three hospitals in western Taiwan and at four hospitals in eastern Taiwan were included. All the cytogenetic analyses of cultured amniocytes were performed in the cytogenetics laboratory of the Genetic Counseling Center of Hualien Buddhist Tzu Chi General Hospital. We used the chi-square test, Student t test, and Mann-Whitney U test to evaluate the variants of clinical indications, amniocyte karyotyping results, and prevalence and types of chromosomal anomalies in western and eastern Taiwan. During the study period, 3573 samples, 1990 (55.7%) from western Taiwan and 1583 (44.3%) from eastern Taiwan, were collected and analyzed. The main indication for amniocyte karyotyping was advanced maternal age (69.0% in western Taiwan, 67.1% in eastern Taiwan). The detection rates of chromosomal anomalies by amniocyte karyotyping in eastern Taiwan (45/1582, 2.8%) did not differ significantly from that in western Taiwan (42/1989, 2.1%) (p = 1.58). Mothers who had abnormal ultrasound findings and histories of familial hereditary diseases or chromosomal anomalies had higher detection rates of chromosomal anomalies (9.3% and 7.2%, respectively). The detection rate of autosomal anomalies was higher in eastern Taiwan (93.3% vs. 78.6%, p = 0.046), but the detection rate of sex-linked chromosomal anomalies was higher in western Taiwan (21.4% vs. 6.7%, p = 0.046). We demonstrated regional differences in second-trimester amniocyte karyotyping results and established a database of common chromosomal anomalies that could be useful for genetic counseling, especially in eastern Taiwan. Copyright © 2012. Published by Elsevier B.V.

[Cytogenetic Abnormalities and Outcomes of 117 Patients with Multiple Myeloma Detected by FISH].

Science.gov (United States)

Zhai, Bing; Zou, Dan-Dan; Yan, Jian-Jun; Wang, Nan; Wang, Li-Li; Zhu, Hong-Li; Huang, Wen-Rong; Yu, Li

2016-02-01

To analyze the cytogenetic abnormalities and prognostic outcomes of patients with multiple myeloma (MM) detected by fluorescence in situ hybridization (FISH). The clinical record of 117 newly-diagnosed patients with MM treated in department of hematology and geriatric hematology of our hospital for 7 years were collected, and their molecular cytogenetic abnormalities detected by FISH and the clinical outcome were analyzed retrospectively. The detected rate of cytogenetic abnormality was 76.9%(90/117), the most common abnormality deteted by FISH was 1q21+ (71.1%), followed by 13q- (56.6%). The cross comparison method showed that 13q- and 17p13-, t(11;14) and t(4;14) were related respectively. All the patients with cytogenetic abnormalities showed no significant difference in the overall survival from cytogenetic normal patients. The positive rate of molecular cytogenetic abnormalities detected by FISH in MM patients is high, but data from larger and longer studies are needed to evaluate the prognostic outcomes.

Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia

International Nuclear Information System (INIS)

Patnaik, M M; Tefferi, A

2016-01-01

Chronic myelomonocytic leukemia (CMML) is a clonal stem cell disorder associated with peripheral blood monocytosis and an inherent tendency to transform to acute myeloid leukemia. CMML has overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Clonal cytogenetic changes are seen in ~30%, whereas gene mutations are seen in >90% of patients. Common cytogenetic abnormalities include; trisomy 8, -Y, -7/del(7q), trisomy 21 and del(20q), with the Mayo–French risk stratification effectively risk stratifying patients based on cytogenetic abnormalities. Gene mutations frequently involve epigenetic regulators (TET2 ~60%), modulators of chromatin (ASXL1 ~40%), spliceosome components (SRSF2 ~50%), transcription factors (RUNX1 ~15%) and signal pathways (RAS ~30%, CBL ~15%). Of these, thus far, only nonsense and frameshift ASXL1 mutations have been shown to negatively impact overall survival. This has resulted in the development of contemporary, molecularly integrated (inclusive of ASXL1 mutations) CMML prognostic models, including Molecular Mayo Model and the Groupe Français des Myélodysplasies model. Better understanding of the prevalent genetic and epigenetic dysregulation has resulted in emerging targeted treatment options for some patients. The development of an integrated (cytogenetic and molecular) prognostic model along with CMML-specific response assessment criteria are much needed future goals

A comprehensive cytogenetic classification of 1466 Chinese patients with de novo acute lymphoblastic leukemia.

Science.gov (United States)

Li, Xin; Li, Juan; Hu, Yanjie; Xie, Wei; Du, Wen; Liu, Wei; Li, Xiaoqing; Chen, Xiangjun; Li, Hongrui; Wang, Junfeng; Zhang, Lannan; Huang, Shiang

2012-06-01

Cytogenetics and molecular cytogenetics of 1466 Chinese patients with de novo acute lymphoblastic leukemia (ALL) were studied. Cytogenetic results were available in 1175 patients. Cross-correlations of 23 subclasses of cytogenetic abnormalities were described. Childhood cases had higher incidences of normal karyotype, t(1;19), +8, 12q-, +21, +22 and high hyperdiploidy with 51-65 chromosomes, and lower incidences of t(9;22) and -5/5q- than adult ones (all pcytogenetic subclasses with immunophenotyping subgroups of ALL were studied. Our study presents the cytogenetic characteristics of a large series of Chinese ALL patients. Copyright © 2011 Elsevier Ltd. All rights reserved.

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...... necessitate essential improvements in standardization and measurement precision....

A mouse model of cytogenetic analysis to evaluate caesium137 radiation dose exposure and contamination level in lymphocytes

Energy Technology Data Exchange (ETDEWEB)

Roch-Lefevre, Sandrine; Martin-Bodiot, Cecile; Gregoire, Eric; Roy, Laurence [Institut de Radioprotection et de Surete Nucleaire (IRSN), Laboratoire de Dosimetrie Biologique (PRP-HOM/SRBE/LDB), Fontenay aux Roses Cedex (France); Desbree, Aurelie [Institut de Radioprotection et de Surete Nucleaire (IRSN), PRP-HOM/SDI, Laboratoire d' Evaluation de la Dose Interne, Fontenay aux Roses Cedex (France); Barquinero, Joan Francesc [Institut de Radioprotection et de Surete Nucleaire (IRSN), Laboratoire de Dosimetrie Biologique (PRP-HOM/SRBE/LDB), Fontenay aux Roses Cedex (France); Universitat Autonoma de Barcelona, Unitat d' Antropologia Biologica, Departament de Biologia Animal, Biologia Vegetal i Ecologia, Bellaterra (Spain)

2016-03-15

In case of external overexposure to ionizing radiation, an estimation of its genotoxic effects on exposed individuals can be made retrospectively by the measurement of radiation-induced chromosome aberrations on circulating lymphocytes. Compared with external irradiation, intakes of radionuclides may, however, lead to specific features influencing dose distribution at the scale of body, of tissue or even of cell. Therefore, in case of internal contamination by radionuclides, experimental studies, particularly using animal models, are required to better understand mechanisms of their genotoxic effects and to better estimate the absorbed dose. The present study was designed to evaluate a cytogenetic method in mouse peripheral blood lymphocytes that would allow determination of yields and complexities of chromosome aberrations after low-dose rate exposure to {sup 137}Cs delivered in vitro either by irradiation or by contamination. By using M-FISH analysis, we compared the low-dose rate responses observed in mouse to the high-dose rate responses observed both in mouse and in human. Promising similarities between the two species in the relative biological effect evaluation show that our cytogenetic model established in mouse might be useful to evaluate various radiation exposures, particularly relevant in case of intakes of radionuclides. (orig.)

Cytogenetic dosimetry in suspected cases of ionizing radiation occupational exposure

International Nuclear Information System (INIS)

Ramalho, Adriana T.; Costa, Maria Lucia P.; Oliveira, Monica S.; Silva, Francisco Cesar A. da

2001-01-01

Cytogenetic dosimetry is very useful in routine as well as in serious accident situations in which exposed individuals do not wear physical dosimeters. Since 1984, the technique of cytogenetic dosimetry has been used as a routine in our laboratory at IRD/CNEN to complement the data of physical dosimetry. In the period from 1984 to 2000, 138 cases of occupational overexposure of individual dosimeters were investigated by us. In total, only in 36 of the 138 cases investigated the overexposure was confirmed by cytogenetic dosimetry. The data indicates a total confirmation index of just 26% of the suspected cases.(author)

Estimation of absorbed doses on the basis of cytogenetic methods

International Nuclear Information System (INIS)

Shevchenko, V.A.; Rubanovich, A.V.; Snigiryova, G.P.

1998-01-01

Long-term studies in the field of radiation cytogenetics have resulted in the discovery of relationship between induction of chromosome aberrations and the type of ionizing radiation, their intensity and dose. This has served as a basis of biological dosimetry as an area of application of the revealed relationship, and has been used in the practice to estimate absorbed doses in people exposed to emergency irradiation. The necessity of using the methods of biological dosimetry became most pressing in connection with the Chernobyl accident in 1986, as well as in connection with other radiation situations that occurred in nuclear industry of the former USSR. The materials presented in our works demonstrate the possibility of applying cytogenetic methods for assessing absorbed doses in populations of different regions exposed to radiation as a result of accidents at nuclear facilities (Chernobyl, the village Muslymovo on the Techa river, the Three Mile Island nuclear power station in the USA where an accident occurred in 1979). Fundamentally, new possibilities for retrospective dose assessment are provided by the FISH-method that permits the assessment of absorbed doses after several decades since the exposure occurred. In addition, the application of this method makes it possible to restore the dynamics of unstable chromosome aberrations (dicentrics and centric rings), which is important for further improvement of the method of biological dosimetry based on the analysis of unstable chromosome aberrations. The purpose of our presentation is a brief description of the cytogenetic methods used in biological dosimetry, consideration of statistical methods of data analysis and a description of concrete examples of their application. (J.P.N.)

Mathematical operations in cytogenetic dosimetry: Dosgen

International Nuclear Information System (INIS)

Garcia L, O.; Zequera J, T.

1996-01-01

Handling of formulas and mathematical procedures for fitting and using of dose-response relationships in cytogenetic dosimetry is often difficulted by the absence of collaborators specialized in mathematics and computation. DOSGEN program contains the main mathematical operations which are used in cytogenetic dosimetry. It is able to run in IBM compatible Pc's by non-specialized personnel.The program possibilities are: Poisson distribution fitting test for the number of aberration per cell, dose assessment for whole body irradiation, dose assessment for partial irradiation and determination of irradiated fraction. The program allows on screen visualization and printing of results. DOSGEN has been developed in turbo pascal and is 33Kb of size. (authors). 4 refs

Comparative data in the radiation-induced yields of cytogenetic alterations

International Nuclear Information System (INIS)

Koeteles, G.J.

1993-01-01

The need of biological indicators of radiation injuries is growing for various conditions of exposures like external or internal, acute or chronic. The search for such indicators did not result in techniques fulfilling yet all these requirements. So far, the dielectric chromosome aberration analysis can be used as the most reliable assay in radiation accidents. In the recent years several laboratories including ours have initiated research to apply a more simple cytogenetic technique, i.e. the detection of micronuclei in lymphocytes. The fairly consequent dose-effect relationships obtained by several laboratories made the technique rather promising, especially after the modification recommended to recognize interphase cells after their first mitotic divisions. In this presentation dose-effect relationships of formations of various cytogenetic abnormalities are compared with special emphasis on their applicabilities in dose assessments in radiation accidents. Basically, the materials and methods were as published earlier

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 ...

Non-linearity of dose-effect relationship at low level exposure on the example of cytogenetic effects in plant cells

International Nuclear Information System (INIS)

Oudalova, A.A.; Geras'kin, S.A.; Dikarev, V.G.; Dikareva, N.S.; Chernonog, E.V.

2007-01-01

Complete text of publication follows. There has been an increasing concern in the current scientific society and among the public about the need to protect the environment in order to maintain the ecosystem sustainability and future well-being of man. The linear non-threshold (LNT) hypothesis as the most officially acknowledged concept of biological effect of radiation fails to explain many facts on effects at low level exposures (LLE) accumulated lately. Available information on the dose-effect relationship at low doses is scarce and incomplete for non-human species despite the fact that, under conditions of increased radiation exposure, some biota species occur at a risk of higher impact than humans because of differences in ecological niches occupied. Dose-effect relationships for cytogenetic damage in the range of LLE are studied in a series os experiments with plant (Hordeum vulgare L.) meristem cells. Dose-effect dependences obtained show an obvious non-linear behavior in the LLE region. A piecewise linear model (PLM) for dose-cytogenetic effect relationship that considers an existence of dose-independent part at LLE ('plateau') is developed and specified on the data obtained. An advantage of the PLM over linear model in approximating the frequency of cytogenetic disturbances is demonstrated. From an empirical probability distribution analysis, it is shown that the increase in cytogenetic damage level is tightly connected with changes in a process of absorbed energy distribution between target volumes in terms of fraction of cells experienced a radiation hit event. An appropriateness of the LNT hypothesis to the description of cytogenetic disturbances yield in plant meristem cells in the LLE region is discussed. The results support a conclusion about indirect mechanism of mutagenesis induced by low doses. New data obtained concern a perception of fundamental mechanisms governing cell response to LLE. These findings are of general biological interest, since

Cytogenetics of Festulolium (Festuca x Lolium hybrids).

Science.gov (United States)

Kopecký, D; Lukaszewski, A J; Dolezel, J

2008-01-01

Grasses are the most important and widely cultivated crops. Among them, ryegrasses (Lolium spp.) and fescues (Festuca spp.) provide high quality fodder for livestock, are used for turf and amenity purposes, and play a fundamental role in environment protection. Species from the two genera display complementary agronomic characteristics and are often grown in mixtures. Breeding efforts to combine desired features in single entities culminated with the production of Festuca x Lolium hybrids. The so called Festuloliums enjoy a considerable commercial success with numerous cultivars registered all over the world. They are also very intriguing from a strictly cytogenetic point of view as the parental chromosomes recombine freely in hybrids. Until a decade ago this phenomenon was only known in general quantitative terms. The introduction of molecular cytogenetic tools such as FISH and GISH permitted detailed studies of intergeneric chromosome recombination and karyotyping of Festulolium cultivars. These tools were also invaluable in revealing the origin of polyploid fescues, and facilitated the development of chromosome substitution and introgression lines and physical mapping of traits of interest. Further progress in this area will require the development of a larger set of cytogenetic markers and high-resolution cytogenetic maps. It is expected that the Lolium-Festuca complex will continue providing opportunities for breeding superior grass cultivars and the complex will remain an attractive platform for fundamental research of the early steps of hybrid speciation and interaction of parental genomes, as well as the processes of chromosome pairing, elimination and recombination. 2008 S. Karger AG, Basel

Review of the correlation between results of cytogenetic dosimetry from blood lymphocytes and EPR dosimetry from tooth enamel for victims of radiation accidents

International Nuclear Information System (INIS)

Khvostunov, I.K.; Ivannikov, A.I.; Skvortsov, V.G.; Golub, E.V.; Nugis, V. Yu.

2015-01-01

The goal of this study was to compare dose estimates from electron paramagnetic resonance (EPR) dosimetry with teeth and cytogenetic dosimetry with blood lymphocytes for 30 victims of radiation accidents. The whole-body exposures estimated by tooth enamel EPR dosimetry were ranging from 0.01 to 9.3 Gy. Study group comprised victims exposed to acute and prolonged irradiation at high and low dose rate in different accidents. Blood samples were taken from each of them for cytogenetic analysis. Aberrations were scored and analysed according to International Atomic Energy Agency (IAEA) guidelines for conventional and FISH analysis. Tooth samples were collected in dental clinics after they had been extracted during ordinary practice. EPR dosimetry was performed according to the IAEA protocol. EPR dosimetry showed good correlation with dosimetry based on chromosomal analysis. All estimations of cytogenetic dose below detection limit coincide with EPR dose estimates within the ranges of uncertainty. The differences between cytogenetic and EPR assays may occur in a case of previous unaccounted exposure, non-homogeneous irradiation and due to contribution to absorbed dose from neutron irradiation. (authors)

[Cytogenetic features of teenage girls with secondary amenorrhea].

Science.gov (United States)

Nachetova, T A; Nefidova, V E

2014-11-01

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

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

Science.gov (United States)

2010-06-08

...] Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and Interpretation... public meeting: Array-Based Cytogenetic Tests: Questions on Performance Evaluation, Result Reporting and... cytogenetic tests. Date and Time: The meeting will be held on June 30, 2010, from 1:30 p.m. to 5 p.m. Location...

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.

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

Directory of Open Access Journals (Sweden)

Simona Baronchelli

2011-01-01

Full Text Available The importance of X chromosome in the aetiology of premature ovarian failure (POF is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.

Omitting cytogenetic assessment from routine treatment response monitoring in chronic myeloid leukemia is safe.

Science.gov (United States)

Geelen, Inge G P; Thielen, Noortje; Janssen, Jeroen J W M; Hoogendoorn, Mels; Roosma, Tanja J A; Valk, Peter J M; Visser, Otto; Cornelissen, Jan J; Westerweel, Peter E

2018-04-01

The monitoring of response in chronic myeloid leukemia (CML) is of great importance to identify patients failing their treatment in order to adjust TKI choice and thereby prevent progression to advanced stage disease. Cytogenetic monitoring has a lower sensitivity, is expensive, and requires invasive bone marrow sampling. Nevertheless, chronic myeloid leukemia guidelines continue to recommend performing routine cytogenetic response assessments, even when adequate molecular diagnostics are available. In a population-based registry of newly diagnosed CML patients in the Netherlands, all simultaneous cytogenetic and molecular assessments performed at 3, 6, and 12 months were identified and response of these matched assessments was classified according to European Leukemia Net (ELN) recommendations. The impact of discrepant cytogenetic and molecular response classifications and course of patients with additional chromosomal abnormalities were evaluated. The overall agreement of 200 matched assessments was 78%. In case of discordant responses, response at 24 months was consistently better predicted by the molecular outcome. Cytogenetic response assessments provided relevant additional clinical information only in some cases of molecular "warning." The development of additional cytogenetic abnormalities was always accompanied with molecular failure. We conclude that it is safe to omit routine cytogenetics for response assessment during treatment and to only use molecular monitoring, in order to prevent ambiguous classifications, reduce costs, and reduce the need for invasive bone marrow sampling. Cytogenetic re-assessment should still be performed when molecular response is suboptimal. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Longitudinal fluorescence in situ hybridization reveals cytogenetic evolution in myeloma relapsing after autologous transplantation

Science.gov (United States)

Merz, Maximilian; Jauch, Anna; Hielscher, Thomas; Mai, Elias K.; Seckinger, Anja; Hose, Dirk; Bertsch, Uta; Neben, Kai; Raab, Marc S.; Salwender, Hans; Blau, Igor W.; Lindemann, Hans-Walter; Schmidt-Wolf, Ingo; Scheid, Christof; Haenel, Mathias; Weisel, Katja; Goldschmidt, Hartmut; Hillengass, Jens

2017-01-01

To investigate cytogenetic evolution after upfront autologous stem cell transplantation for newly diagnosed myeloma we retrospectively analyzed fluorescence in situ hybridization results of 128 patients with paired bone marrow samples from the time of primary diagnosis and at relapse. High-risk cytogenetic abnormalities (deletion 17p and/or gain 1q21) occurred more frequently after relapse (odds ratio: 6.33; 95% confidence interval: 1.86–33.42; P<0.001). No significant changes were observed for defined IGH translocations [t(4;14); t(11;14); t(14;16)] or hyperdiploid karyotypes between primary diagnosis and relapse. IGH translocations with unknown partners occurred more frequently at relapse. New deletion 17p and/or gain 1q21 were associated with cytogenetic heterogeneity, since some de novo lesions with different copy numbers were present only in subclones. No distinct baseline characteristics were associated with the occurrence of new high-risk cytogenetic abnormalities after progression. Patients who relapsed after novel agent-based induction therapy had an increased risk of developing high-risk aberrations (odds ratio 10.82; 95% confidence interval: 1.65–127.66; P=0.03) compared to those who were treated with conventional chemotherapy. Survival analysis revealed dismal outcomes regardless of whether high-risk aberrations were present at baseline (hazard ratio, 3.53; 95% confidence interval: 1.53–8.14; P=0.003) or developed at relapse only (hazard ratio, 3.06; 95% confidence interval: 1.09–8.59; P=0.03). Our results demonstrate cytogenetic evolution towards high-risk disease after autologous transplantation and underline the importance of repeated genetic testing in relapsed myeloma (EudraCT number of the HD4 trial: 2004-000944-26). PMID:28495913

An in vivo cytogenetic analysis of human oral squamous cell carcinoma

Directory of Open Access Journals (Sweden)

Abhimanyu Mohanta

2015-01-01

Full Text Available Background: Oral cancer ranks in the top three of all cancers in India, which accounts for over 30% of all cancers reported in the country. The micronucleus test (MNT is one of the most widely applied short term tests used in genetic toxicology to evaluate the mutagenicity and carcinogenicity. Aims: The present study aims at an in vivo cytogenetic analysis of human oral squamous cell carcinoma and to assess the applicability of MNT in diagnosing early detection of oral carcinoma. Materials and Methods: Exfoliated scrape smears were collected from the clinically diagnosed 136 patients suffering from oral precancerous and cancerous lesions. The wet fixed smears were stained by adopting Papanicolaou's staining protocol and counter-stained with Giemsa's solution. Results: The frequency of micronucleated cells has been observed to be in increasing order with the increase of the age-groups and from control to precancerous to cancerous cases significantly in both sexes. Conclusion: Micronucleus formation in the oral mucosa could be a biomarker of genetic damage and also a potential onco-indicator in the long run of oral carcinogenesis. Therefore, MNT can be applied for the early detection of oral carcinoma in the human being.

Monitoring of DNA and cytogenetic damage in lymphocytes from persons with skin cancer diseases

International Nuclear Information System (INIS)

Cebulska-Wasilewska, A.; Dyga, W.; Krasnowolski, S.; Wierzewska, A.; Budzanowska, E.

1999-01-01

There is a lot of interest in the studies that would help to understand whether there is a casual association between cancer and various types of molecular or cytogenetic damage detected in human cells. One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocation. There are substantial evidence that indicates that the loss of heterozygosity of certain chromosomes is involved in human cancerogenesis. Our study aimed to elicit the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people bearing various categories of skin cancer cells. Fresh blood was collected by venipuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3 % of them were former smokers. Blood samples were divided into two parts and in the first part of samples cytogenetic studies were performed immediately, while from the second part lymphocytes were isolated and stored at -70 o C for further studies in vitro. In the later one a single cell gel electrophoresis assay (SCGE) known as a Comet assay was performed to study individual susceptibility to the induction of DNA damage by UV or radiation and to estimate variability in cellular repair capabilities. An average of 220 per sample of good metaphase spreads in the first mitotic division, and 100 per sample in the second division, were accepted for analysis of cytogenetic damage. Chromosome and chromatid type aberrations were scored in the cells in the first mitosis and expressed as total aberration frequency including gaps and excluding gaps. Sister chromatid exchanges, high frequency cells and proliferative rate index were screened and evaluated in the second mitosis. Each of the patient revealed exceeding in at least one of the cytogenetic biomarkers level from the biomarker's level detected in a reference group. In order to estimate susceptibility of people to environmentally induced

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

Directory of Open Access Journals (Sweden)

Ewers Elisabeth

2011-01-01

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

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

DEFF Research Database (Denmark)

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

1988-01-01

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

Position of cytogenetic examination of cosmonauts for the space radiation expose estimate

Science.gov (United States)

Snigireva, Galina; Novitskaya, Natalia; Ivanov, Alexander

Analysis of chromosome aberrations in human peripheral blood lymphocytes is widely used for the indication and quantitative assessment of radiation. The dose, as estimated by the frequency of chromosome aberrations takes into account not only the physical impact of radiation on the human body but also its individual characteristics, such as radiation sensitivity and functional conditions during irradiation. The purpose of this study was to evaluate the influence of radiation on the chromosome aberration frequency in peripheral blood lymphocytes of the cosmonauts who participated in flights on the ISS (International Space Station). Cytogenetic examination was performed in the period 1992-2013 and included the analysis of chromosome aberrations using conventional Giemsa staining method in blood samples from 38 cosmonauts who participated in flights on the ISS. The cytogenetic examination results showed that cosmic flights lead to an increase of chromosome aberrations in the lymphocytes of cosmonauts. Compared with the pre-flight levels frequencies of dicentrics and centric rings (the radiation exposure markers) are about 4 times higher for cosmonauts after flights. The frequency of chromosome aberrations depends on the length of the flight and, correspondingly, on the accumulated dose of cosmic irradiation. Between flights, a decrease in the chromosome aberration frequency is observed, but even several years after a flight, the level of chromosome aberrations in the lymphocytes of cosmonauts remains high. Cytogenetic monitoring of cosmonauts can undoubtedly play an important role in comprehensive medical surveys of these individuals if we take into account the possible connection of higher levels of chromosomal aberrations with the risk of oncological diseases. Analysis of chromosome aberration dynamics after flights will allow the determination of individuals with an increased cancerogenese risk and provision of required treatments.

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

OpenAIRE

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...

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...... and another with a small 1p deletion. In three adenomas, del(1)(p36) was the only cytogenetic aberration, supporting the authors' previous conclusion that loss of one or more gene loci in band 1p36 is a common early change in colorectal tumorigenesis. Chromosome 8 was involved in structural changes in two...... adenomas; in one this led to loss of 8p and in the other to gain of 8q. The cytogenetic findings did not correlate in a statistically significant manner with clinicopathologic parameters, such as grade of dysplasia, macroscopic or microscopic adenoma structure, tumor size and location, or the patients' sex...

A short introduction to cytogenetic studies in mammals with reference to the present volume.

Science.gov (United States)

Graphodatsky, A; Ferguson-Smith, M A; Stanyon, R

2012-01-01

Genome diversity has long been studied from the comparative cytogenetic perspective. Early workers documented differences between species in diploid chromosome number and fundamental number. Banding methods allowed more detailed descriptions of between-species rearrangements and classes of differentially staining chromosome material. The infusion of molecular methods into cytogenetics provided a third revolution, which is still not exhausted. Chromosome painting has provided a global view of the translocation history of mammalian genome evolution, well summarized in the contributions to this special volume. More recently, FISH of cloned DNA has provided details on defining breakpoint and intrachromosomal marker order, which have helped to document inversions and centromere repositioning. The most recent trend in comparative molecular cytogenetics is to integrate sequencing information in order to formulate and test reconstructions of ancestral genomes and phylogenomic hypotheses derived from comparative cytogenetics. The integration of comparative cytogenetics and sequencing promises to provide an understanding of what drives chromosome rearrangements and genome evolution in general. We believe that the contributions in this volume, in no small way, point the way to the next phase in cytogenetic studies. Copyright © 2012 S. Karger AG, Basel.

Cytogenetic characterization of Encyclia caximboensis cultivated in vitro (Orchidaceae)

OpenAIRE

Gizelly Mendes Silva; Tatiane Lemos Varella; Kaliane Maximiliano Cruz; Ilio Fealho Carvalho; Isane Vera Karsburg; Maurecilne Lemes Silva

2015-01-01

Encyclia caximboensis is an Amazonian species endemic to the Serra do Cachimbo, which is located between the northern of the Mato Grosso state and the southern part of Para state. Studies reporting in vitro cultivation and cytogenetic characterization of this species are still scarce. Therefore, the objective of this work was to determine the cytogenetic characteristics and to identify the nucleolar organizer regions (NORs) of the species E. Caximboensis, cultivated in vitro. Seeds of E. caxi...

Cancer predictive value of cytogenetic markers used in occupational health surveillance programs

DEFF Research Database (Denmark)

Hagmar, L; Bonassi, S; Strömberg, U

1998-01-01

It has not previously been clear whether cytogenetic biomarkers in healthy subjects will predict cancer. Earlier analyses of a Nordic and an Italian cohort indicated predictivity for chromosomal aberrations (CAS) but not for sister chromatid exchanges (SCES). A pooled analysis of the updated......, occupational exposures and smoking, will be assessed in a case-referent study within the study base....

A comparison of physical and cytogenetic estimates of radiation dose in patients treated with iodine-131 for thyroid carcinoma

International Nuclear Information System (INIS)

Lloyd, D.C.; Purrott, R.J.; Dolphin, G.W.; Horton, P.W.; Halnan, K.E.; Scott, J.S.; Mair, G.

1976-01-01

Physical and cytogenetic estimates of the whole-body radiation doses have been compared in 11 patients receiving large doses of iodine-131 for the treatment of thyroid carcinoma. The physical estimate was based on the measurement of thyroid uptake, of the plasma activity variation, and of urinary activity. The cytogenetic estimate was obtained from the analysis of chromosome aberrations in peripheral blood lymphocytes. Good agreement between the estimates was observed in patients whose thyroid glands had previously be ablated by radioiodine. In patients who had varying degrees of thyroid function, there were considerable differences between the estimates with the cytogenetic value always being higher. It is suggested that these differences might be due in part to non-uniform irradiation of lymphocytes by local sources of activity in the thyroid and in the liver. (author)

Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

Science.gov (United States)

Simons, A; Shaffer, L G; Hastings, R J

2013-01-01

The latest edition of the International System for Human Cytogenetic Nomenclature, ISCN 2013, has recently been published following a thorough revision of the 2009 issue and the incorporation of suggestions from the community by the current standing committee. This review will highlight the multiple nomenclature changes in the respective chapters of the 2013 version compared to the previous version of the ISCN published in 2009. These highlights are meant as a guide for the cytogeneticist to assist in the transition in the use of this updated nomenclature for describing cytogenetic and molecular cytogenetic findings in both clinical and research reports.

Case report: Concomitant Chronic Lymphocytic Leukaemia and Cytogenetically Normal de novo Acute Leukaemia in a Patient.

Science.gov (United States)

Kajtár, Béla; Rajnics, Péter; Egyed, Miklós; Alizadeh, Hussain

2015-01-01

The simultaneous occurrence of acute myeloid leukaemia with untreated chronic lymphocytic leukemia is extremely rare. We report a case of a 74-year-old man who was evaluated for macrocytic anaemia. Based on the morphology and immunophenotyping analysis of peripheral blood, a diagnosis of chronic lymphocytic leukemia was established. Subsequently, the bone marrow examination revealed the presence of two distinct, coexisting CLL and AML clones. Cytogenetic and molecular genetic analysis detected deletion 13q14.3 and unmutated immunoglobulin variable heavy-chain in the CLL clone, only. The AML and CLL clones did not share clonality, and the AML did not involve the peripheral blood. A diagnosis of cytogenetically normal de novo AML occurring concurrently with untreated CLL has not been reported previously in English literature. © 2015 by the Association of Clinical Scientists, Inc.

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

Roberts syndrome: clinical and cytogenetic aspects

OpenAIRE

Mann, N P; Fitzsimmons, J; Fitzsimmons, E; Cooke, P

1982-01-01

Roberts syndrome is reported in two sibs of consanguineous parents. Both infants had severe tetraphocomelia, facial clefting, and other serious malformations. In addition they were found to have an unusual cytogenetic abnormality with distortion of the normal sister chromatid relationship in many chromosomes.

Chronic Lymphocytic Leukemia with t(14;18(q32;q21 as a Sole Cytogenetic Abnormality

Directory of Open Access Journals (Sweden)

Ghaleb Elyamany

2014-01-01

Full Text Available Background Chronic lymphocytic leukemia (CLL is the most common leukemia in adults. The chromosomal abnormality t(14;18(q32;q21 is most commonly associated with neoplasms of a follicular center cell origin. However, t(14;18 has also been reported in rare cases of CLL. Objective We describe the clinicopathologic, immunophenotypic, conventional, and molecular cytogenetic features of two rare cases proven to be CLL morphologically and immunologically in which t(14;18 was found as the sole cytogenetic abnormality. Methods Morphologic, flow cytometric analysis and molecular cytogenetic of peripheral blood and/or bone marrow samples were analyzed. Results Cytomorphologically, the cells were small mature lymphocytes without any findings that had characteristics of follicular lymphoma (FL such as indented or clefted nuclei. Immunologic findings were characteristic of typical CLL without expression of CD10. A cytogenetic study revealed the two cases of CLL carrying t(14;18(q32;q21. Conclusion We concluded that CLL with t(14;18 is rare and should be differentiated from FL as the therapy is highly diverse between both diseases. Using immunoglobulin heavy chain gene ( IGH probes are important in the workup of patients with suspected CLL and suggest that the IGH probe should be used routinely in all CLL fluorescence in situ hybridization (FISH panels.

Calculations in cytogenetic dosimetry by means of the dosgen program

International Nuclear Information System (INIS)

Garcia Lima, O.; Zerquera, J.T.

1996-01-01

The DOSGEN program sums up the different calculations routing that are more often used in cytogenetic dosimetry. It can be implemented in a compatible IBM PC by cytogenetic experts having a basic knowledge of computing. The programs has been successfully applied using experimental data and its advantages have been acknowledge by Latin American and Asian Laboratories dealing with this medical branch. The program is written in Pascal Language and requires 42 K bytes

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

Monitoring of DNA and cytogenetic damage in lymphocytes in patients with skin cancer disease

International Nuclear Information System (INIS)

Cebulska-Wasilewska, A.; Dyga, W.; Krasnowolski, S.; Wierzewska, A.; Budzanowska, E.

1999-01-01

One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocations. There is substantial evidence that indicates that human carcinogenesis involves loss of heterozygosity of certain chromosomes. Our study aimed at searching the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people with various categories of skin cancer cells. Fresh blood was collected by venepuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3% of them were former smokers. Blood samples were divided into two parts; in the first part of samples cytogenetic studies were performed immediately, while lymphocytes from the other part were isolated and stored at -70 0C for further studies in vitro. A single cell gel electrophoresis assay (SCGE), known as a Comet assay, was performed on them to study individual susceptibility to the induction of DNA damage by UV or radiation and to estimate variability in cellular repair capabilities. On average 220 good metaphase spreads per sample in the first mitotic division, and 100 spreads per sample in the second division were accepted for analysis of the cytogenetic damage. Chromosome and chromatid type aberrations were scored in the cells in the first mitosis, and expressed as total aberration frequency including and excluding gaps. Sister chromatid exchanges , high frequency cells and proliferating rate index were screened and evaluated in the second mitosis. Each patient showed a level exceeding (in at least one of the cytogenetic biomarker) the biomarker level in a reference group. In order to estimate susceptibility of people to environmentally induced damage, the isolated lymphocytes were irradiated with 2 Gy dose of X-rays or 6 J/m 2 of UV radiation, and the single cell gel electrophoresis (SCGE assay) was performed. To compare various individual capabilities to repair the induced damage

Drug-induced premature chromosome condensation (PCC) protocols: cytogenetic approaches in mitotic chromosome and interphase chromatin.

Science.gov (United States)

Gotoh, Eisuke

2015-01-01

Chromosome analysis is a fundamental technique which is used in wide areas of cytogenetic study including karyotyping species, hereditary diseases diagnosis, or chromosome biology study. Chromosomes are usually prepared from mitotic cells arrested by colcemid block protocol. However, obtaining mitotic chromosomes is often hampered under several circumstances. As a result, cytogenetic analysis will be sometimes difficult or even impossible in such cases. Premature chromosome condensation (PCC) (see Note 1) is an alternative method that has proved to be a unique and useful way in chromosome analysis. Former, PCC has been achieved following cell fusion method (cell-fusion PCC) mediated either by fusogenic viruses (e.g., Sendai virus) or cell fusion chemicals (e.g., polyethylene glycol), but the cell fusion PCC has several drawbacks. The novel drug-induced PCC using protein phosphatase inhibitors was introduced about 20 years ago. This method is much simpler and easier even than the conventional mitotic chromosome preparation protocol use with colcemid block and furthermore obtained PCC index (equivalent to mitotic index for metaphase chromosome) is usually much higher than colcemid block method. Moreover, this method allows the interphase chromatin to be condensed to visualize like mitotic chromosomes. Therefore drug-induced PCC has opened the way for chromosome analysis not only in metaphase chromosomes but also in interphase chromatin. The drug-induced PCC has thus proven the usefulness in cytogenetics and other cell biology fields. For this second edition version, updated modifications/changes are supplemented in Subheadings 2, 3, and 4, and a new section describing the application of PCC in chromosome science fields is added with citation of updated references.

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 .

Contributions of classical and molecular cytogenetic in meiotic analysis and pollen viability for plant breeding.

Science.gov (United States)

Lavinscky, M P; Souza, M M; Silva, G S; Melo, C A F

2017-09-27

The analysis of meiotic behavior has been widely used in the study of plants as they provide relevant information about the viability of a species. Meiosis boasts a host of highly conserved events and changes in genes that control these events will give rise to irregularities that can alter the normal course of meiosis and may lead to complete sterility of the plant. The recombination of genes that occur in meiosis is an important event to generate variability and has been important in studies for genetic improvement and to create viable hybrids. The use of fluorescence in situ hybridization and genomic in situ hybridization (GISH) in meiosis allows the localization of specific regions, enables to differentiate genomes in a hybrid, permits to observe the pairing of homoeologous chromosomes, and if there was a recombination between the genomes of progenitor species. Furthermore, the GISH allows us to observe the close relationship between the species involved. This article aims to report over meiosis studies on plants and hybrids, the use and importance of molecular cytogenetic in meiotic analysis and contributions of meiotic analysis in breeding programs.

Cytogenetic data on the threatened leafcutter ant Atta robusta Borgmeier, 1939 (Formicidae: Myrmicinae: Attini).

Science.gov (United States)

Barros, Luísa Antônia Campos; Aguiar, Hilton Jeferson Alves Cardoso de; Teixeira, Gisele Amaro; Mariano, Cléa Dos Santos Ferreira; Teixeira, Marcos da Cunha; Delabie, Jacques Hubert Charles; Pompolo, Silvia das Graças

2015-10-01

The karyotype of the threatened ant species Atta robusta is described so as to establish the evolutionary relationships of this taxon with other leafcutter ants. Standard Giemsa staining, C-banding, NOR banding, fluorochromes CMA3/DAPI, Hsc-FA technique and Fluorescence in situ Hybridization (FISH) using 18S rDNA probe were conducted on a population from Aracruz, state of Espírito Santo, Brazil, allowing for comparisons with data available on Atta and other fungus-growing ant species. The diploid chromosome number observed for A. robusta was 2n=22, and the karyotypic formula was 18m+2sm+2st. Heterochromatic blocks were observed in the centromeric region of most chromosomes, where one pair of metacentric chromosomes is characterized by a GC-rich heterochromatic band in the interstitial region of its long arm. The detection of 18S rDNA using FISH confirmed the presence of single NOR for A. robusta. This is the first report of rDNA 18S detection using FISH for leafcutter ants. The cytogenetic results of this study confirm the information available for Atta and allow us to confirm the conserved chromosome number, morphology and banding pattern within the genus for the taxa studied to date, which included species from three out of the four groups of Atta indicated by molecular data. The accumulation of cytogenetic data on fungus-growing ants enhances the understanding of the genomic evolutionary patterns of Atta, since it belongs to a group of recent origin between the most well studied ants. Cytogenetic data does not indicate restrictions in relocation or reintroduction in areas where populations were extinct due to the conserved karyotype. This study allows for cytogenetic comparison of A. robusta with other ants of Atta, emphasizing the importance of chromosomal information for species conservation. Copyright © 2015 Académie des sciences. Published by Elsevier SAS. All rights reserved.

Cytogenetic studies in persons, professionally exposed to low doses ionizing radiation

International Nuclear Information System (INIS)

Bulanova, M.; Ivanov, B.; Khristova, M.; Praskova, L.; Mikhajlov, M.; Dovev, I.

1981-01-01

Cytogenetic techniques were used to examine peripheral lymphocytes taken from 33 subjects employed at the IRT-2000-Sofia Nuclear Reactor and exposed to mixed gamma and neutron radiation in its Zone A. Physical dosimetry data (from pen and film personnel dosimeters) showed the exposures to be below maximum permissible levels, in complience with Radiation Safety Norms in the P.R. of Bulgaria (1972). The subjects were distributed into three groups according to the length of their occupational experience as radiation workers. Comparisons were made with cytogenetic findings in the lymphocyte cultures taken from 30 subjects with no occupational radiation exposure. Radiation workers exhibited a significant increase in chromosomal damage of the chromosome and chromatid type. Subjects with 5-10 years of occupational experience had a higher degree of chromosomal damage than the less-than-5-years group. For persons with more than 10 years of occupational experience, however, no increase over controls could be ascertained in percentage of chromosomal damage. When radiation workers were re-distributed in accord with the exposures received, it was evident that the effect increased with the accumulated dose, the group with about 0.02 Sievert having nearly twice the aberrant cell percentage for the 0.01 Sievert group. In the group of up to 0.05 Sievert, the percentage of aberrant cells was in the order of that observed after exposure to 0.02 Sievert. From the findings in the analysis, radiation quality seemed to play no part in enliciting the cytogenetic response of peripheral lymphocytes. (A.B.)

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.

[Cytogenetic effects in Koeleria gracilis Pers. populations from the Semipalatinsk proving ground].

Science.gov (United States)

Geras'kin, S A; Mozolin, E M; Dikarev, V G; Udalova, A A; Dikareva, N S; Spiridonov, S I; Teten'kin, V L

2009-01-01

The proliferative activity and the frequency of cytogenetic disturbances in apical meristem of coleoptile sprouts at germination of seeds collected from crested hairgrass populations inhabiting contrast in level of radioactive contamination sites of the Semipalatinsk test site (Kazakhstan) are studied. Sampling of biological material and soil was carrying out during three years (2005-2007). The absorbed dose to critical organs of crested hairgrass vary depending on a site from 2.8 up to 262.2 mGy/year. A sognificant correlation between the frequency of cytogenetic disturbances in apical meristem and dose absorbed in crested hairgrass critical organs is found. Devere aberrations such as single and double bridges make the main contribution to spectrum of structural mutations as well as lagging chromosomes. In spite of the fact that the crested hairgrass populations have occupied the sites with a high level of radioactive contamination for a long time, the data analysis fails to reveal radio-adaptation effect.

Cytogenetic studies in workers with chronic occupational radiation exposure

International Nuclear Information System (INIS)

Grynszpan, D.

1989-01-01

The technique of chromosomal aberration detection on peripheral lymphocytes blood samples from monazite industry workers was used to study the cytogenetic effect of low chronic radiation doses. Cells from 51 workers and 21 controls were analysed. Cytogenetic data from individuals from different working areas were statistically compared among themselves and with the control group. The possible correlations between chromosomal aberration frequencies and cumulative external dose and working time were investigated. The influence of smoking was also tested. The link to the wives spontaneous abortions was analysed. Our results indicate possible biological effects on this sample of workers. (author)

Use of AFLP and RAPD molecular genetic markers and cytogenetic analysis to explore relationships among taxa of the Patagonian Bromus setifolius complex

Directory of Open Access Journals (Sweden)

Ana M. García

2009-01-01

Full Text Available Bromus setifolius var. pictus (Hook Skottsb., B. setifolius var. setifolius Presl. and B. setifolius var. brevifolius Ness are three native Patagonian taxa in the section Pnigma Dumort of the genus Bromus L. AFLP and RAPD analysis, in conjunction with genetic distance measurements and statistical techniques, revealed variation within this group and indicated that B. setifolius var. brevifolius was closely related to B. setifolius var. pictus, with both taxa being more distantly related to B. setifolius var. setifolius. Cytogenetic analysis confirmed the chromosomal number of B. setifolius var. pictus (2n = 70 and B. setifolius var. setifolius (2n = 28 and showed for the first time that B. setifolius var. brevifolius had 2n = 70. The combination of molecular genetic and cytogenetic evidence supported a species status for two of the three taxa and suggested hypotheses for the evolutionary origin of these complex taxa. Species status was also indicated for B. setifolius var. setifolius. Based on these findings, we suggest that B. setifolius var. pictus be referred to as B. pictus Hook var. pictus, and B. setifolius var brevifolius as B. pictus Hook var brevifolius. The correlation between AFLP diversity and variation in ecological parameters suggested that this marker system could be used to assess breeding progress and to monitor the domestication of Patagonian Bromus species for agronomic use.

A new Bayesian model applied to cytogenetic partial body irradiation estimation

International Nuclear Information System (INIS)

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

2016-01-01

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. (authors)

Role of cytogenetic techniques in biological dosimetry of absorbed radiation

International Nuclear Information System (INIS)

Rao, B.S.

2016-01-01

In most of the radiation accidents, physical dosimetric information is rarely available. Further, most of the accidental exposures are non-uniform involving either partial body or localized exposure to significant doses. In such situations, physical dosimetry does not provide reliable dose estimate. It has now been realized that biological dosimetric techniques can play an important role in the assessment of absorbed dose. In recent years, a number of biological indicators of radiation have been identified. These include the kinetics of onset and persistence of prodromal syndromes (radiation sickness), cytogenetic changes in peripheral blood lymphocytes, hematological changes, biochemical indicators, ESR spectroscopy of biological samples, induction of gene mutations in red blood cells, cytogenetic and physiological changes in skin and neurophysiological changes. In general, dosimetric information is derived by a combination of several different methods, as they have potential to serve as prognostic indicators. The role of cytogenetic techniques in peripheral blood lymphocytes (PBL) as biological indicators of absorbed radiation is reviewed here

[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.

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.

Cytogenetic analysis of mammals from ecologically unfavourable regions of Kazakhstan

International Nuclear Information System (INIS)

Zhapbasov, R.; Sejsebaev, A.T.

2000-01-01

Cytogenetic monitoring of mammals' natural population living in unfavorable regions of Kazakhstan were carried out. With this purpose level of chromosomal aberration and genome mutation different species of mammals were studied in comparative aspect. It was revealed reliable increase of chromosomal disturbances and genome mutation in rodents' somatic cells living in Semipalatinsk test site. Genome instabilities common level for different age sheep keeping on pasture areas of the Semipalatinsk site with different rate of radiation contamination in 2-3 times exceeds indexes of animals from other regions of the Republic. Same chromosomal disturbances in bone marrow cells were established with sheep breeding in Atyrau oblast. In bone marrow of 2-3 year-age of sheep there are 3.61 % cells with chromosomal aberration, 2.96 % cells with hyperploid chromosomes set and 3.28 % with polyploid chromosome set

Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country.

Science.gov (United States)

Velloso, E D R P; Chauffaille, M L; Peliçario, L M; Tanizawa, R S S; Toledo, S R C; Gaiolla, R D; Lopes, L F

2013-01-01

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

Cytogenetic damage at low doses and the problem of bioindication of chronic low level radiation exposure

International Nuclear Information System (INIS)

Geras'kin, S.A.; Dikarev, V.G.; Nesterov, E.B.; Vasiliev, D.V.; Dikareva, N.S.

2000-01-01

The analysis undertaken by us of the experimentally observed cellular responses to low dose irradiation has shown that the relationship between the yield of induced cytogenetic damage and radiation dose within low dose range is non-linear and universal in character. Because of the relationship between the yield of cytogenetic damage and dose within low dose range is non-linear, the aberration frequency cannot be used in biological dosimetry in the most important in terms of practical application case. The cytogenetic damage frequency cannot be used in biological dosimetry also because of the probability of synergistic and antagonistic interaction effects of the different nature factors simultaneously acting on test-object in real conditions is high within low dose (concentration) range. In our experimental study of the regularities in the yield of structural mutations in conditions of combined influence of ionizing radiation, heavy metals and pesticides it was found that synergistic and antagonistic effects are mainly induced in conditions of combined action of low exposure injuring agents. Experiments on agricultural plants were carried out in 1986-1989 at the 30-km zone around Chernobyl NPP. It was shown that chronic low dose exposure could cause an inheritable destabilization of genetic structures expressing in increase of cytogenetic damage and yield karyotypic variability in offspring's of irradiated organisms. Obviously exactly this circumstance is the reason of the phenomenon found in our researches of significant time delay of cytogenetic damage reduction rate from radioactive pollution reduction rate from time past from the accident moment. Research of cytogenetic damage of reproductive (seeds) and vegetative (needles) plant organs of the Pinus sylvestris tree micropopulations growing in contrast by radioactive pollution level sites of the 30-km ChNPP zone and also in the vicinity of the industrial plant > for processing and temporary storage of

Radiation protection - Performance criteria for service laboratories performing biological dosimetry by cytogenetics

International Nuclear Information System (INIS)

2004-01-01

This International Standard provides criteria for quality assurance and quality control, evaluation of the performance and the accreditation of biological dosimetry by cytogenetic service laboratories. This International Standard addresses: a) the confidentiality of personal information, for the customer and the service laboratory, b) the laboratory safety requirements, c) the calibration sources and calibration dose ranges useful for establishing the reference dose-effect curves allowing the dose estimation from chromosome aberration frequency, and the minimum detection levels, d) the scoring procedure for unstable chromosome aberrations used for biological dosimetry, e) the criteria for converting a measured aberration frequency into an estimate of absorbed dose, f) the reporting of results, g) the quality assurance and quality control, h) informative annexes containing examples of a questionnaire, instructions for customers, a data sheet for recording aberrations and a sample report

46, XX male: a case study of clinical, hormonal and molecular cytogenetic evaluation of sex development disorder

International Nuclear Information System (INIS)

Ali, S.; Shahid, S.M.; Azhar, A.

2012-01-01

Disorders of sex development (DSD) create medical and social dilemma. Maleness with XX genotype is a rare genetic condition affecting one in 24,000 new-born males. The XX male syndrome is a varied condition characterized by a spectrum of clinical presentation. ranging from normal male genitalia to ambiguous sex. Chromosomal anomalies are important cause of lack of development in secondary sexual characteristics, delayed puberty, miscarriage, infertility and other associated problems. An individual having ambiguous sex may have lifelong impact on social, psychological and sexual functions. The present case study describes the hormonal, clinical and molecular cytogenetics data of sex development disorders in a patient who was phenotypically male but cytogenetic analysis revealed 46.XX. (author)

Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

Directory of Open Access Journals (Sweden)

E.D.R.P. Velloso

2013-01-01

Full Text Available Myelodysplastic syndromes (MDS and juvenile myelomonocytic leukemia (JMML are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED. We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome. Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

Canadian Cytogenetic Emergency network (CEN) for biological dosimetry following radiological/nuclear accidents.

Science.gov (United States)

Miller, Susan M; Ferrarotto, Catherine L; Vlahovich, Slavica; Wilkins, Ruth C; Boreham, Douglas R; Dolling, Jo-Anna

2007-07-01

To test the ability of the cytogenetic emergency network (CEN) of laboratories, currently under development across Canada, to provide rapid biological dosimetry using the dicentric assay for triage assessment, that could be implemented in the event of a large-scale radiation/nuclear emergency. A workshop was held in May 2004 in Toronto, Canada, to introduce the concept of CEN and recruit clinical cytogenetic laboratories at hospitals across the country. Slides were prepared for dicentric assay analysis following in vitro irradiation of blood to a range of gamma-ray doses. A minimum of 50 metaphases per slide were analyzed by 41 people at 22 different laboratories to estimate the exposure level. Dose estimates were calculated based on a dose response curve generated at Health Canada. There were a total of 104 dose estimates and 96 (92.3%) of them fell within the expected range using triage scoring criteria. Half of the laboratories analyzed 50 metaphases in cytogenetic networks.

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.

Cytogenetic Profile of de novo Acute Myeloid Leukemia Patients in Malaysia.

Science.gov (United States)

Meng, Chin Yuet; Noor, Puteri J; Ismail, Azli; Ahid, Mohd Fadly Md; Zakaria, Zubaidah

2013-03-01

Acute myeloid leukemia (AML) is a heterogeneous disease in terms of cytogenetics and molecular genetics. AML is the most common acute leukemia in adults and its incidence increases with age. Diagnostic cytogenetics is an important prognostic indicator for predicting outcome of AML. We examined the karyotypic patterns of 480 patients with de novo AML seen at government hospitals throughout the country and evaluated the association of chromosome aberrations with the age of patient. Chromosome abnormalities were detected in 146 (30.4%) patients. The most common cytogenetic abnormality was balanced translocation t (8; 21), followed by trisomy 8 (as sole abnormality) and t (15; 17). The age of our Malaysian patients at diagnosis ranged from four months to 81 years, with a median age of 39 years. The normal karyotype was found mainly in patients aged 15-30 years. About 75% of patients with t (8; 21) were below 40 years of age, and the complex karyotype was found with the highest frequently (34.3%) in elderly patients (age above 60 years). More than half of the patients with complex karyotype were above 50 years of age. The deletion 5q was detected only in patients aged above 50 years. Different cytogenetic abnormalities in AML show different frequencies with increasing age. Probably different genetic mechanisms are involved in the pathogenesis of AML and these mechanisms might occur at different frequencies over lifetime.

Cytogenetic Monitoring of Mammals of Semipalatinsk Test Site

International Nuclear Information System (INIS)

Zhapbasov, R.Zh.; Tusupbaev, V.I.; Karimbaeva, K.S.; Seisebaev, A.T.; Nurgalieva, K.G.; Chenal, C.

1998-01-01

The cytogenetic monitoring of the natural populations of mammals living under conditions of environment radioactive contamination is the simplest method to study the genetic consequences of nuclear tests. This work presents the preliminary results of the cytogenetic monitoring of the natural populations of rodents (Allactaga maior Kerr., Allactaga saltafor Eversm., Citellus erytrogenus Brandt) and domestic sheep (Ovis aries). The exposure of gonads is considered to be the most hazardous among the consequences of the chronic ionizing exposure since the exposure of gonads can cause not only somatic damages but also hereditary ones transferring to the farther generations, The genetic damage assessment of rodent reproductive cells was performed using the morphological test for abnormal form of the sperm head. It is generally accepted, that spermatogenesis disorders, which result in abnormal spermatozoa, are bound to the genetic disturbances during mitotic and meiotic division stages of male sex cells. The analysis of data obtained shows that the rodent males living on the radioactive contaminated sites (Balapan, Degelen) have the higher numbers of abnormal spermatozoa. So, the Allactaga maior taken from the sites with the gamma background of 250 μr/h showed the frequency of abnormal spermatozoa within 48.27 - 62.73 %. This value for the control animals from the gamma background of 11 - 16 μr/h did not exceed 5.8 %. The most objective and sensitive method for assessment of environmental contamination genetic consequences for the natural populations is to determine the damages of the cell genetic apparatus, e. g. the frequency of the visible changes in chromosome number and structure. The cytogenetic study of animals showed that the significant number of marrow cells of rodents and sheep living on the technical fields of the Test Site are the metaphase cells with polyploid (0.98 - 3.50 %) and aneuploidy (11.03 -19.72 %) chromosomal sets. There were also found the

Comparative cytogenetic analysis of chromosomal aberrations and premature centromere division in persons exposed to radionuclides

International Nuclear Information System (INIS)

Jovicic, D.; Rakic, B.; Vukov, T.; Pajic, J.; Milacic, S.; Kovacevic, R.; Stevanovic, M.; Drakulic, D.; Bukvic, N.

2009-01-01

The aim of the research was to determine the presence of correlation between the frequency of premature centromere division (PCD) and chromosomal aberrations (CA) in metaphases in persons professionally exposed to radionuclides. Biological dosimetry was performed by conventional cytogenetic technique. The presence of PCD was confirmed by Fluorescent in situ hybridization (FISH). The L1.84 probe (specific for centromeric region of chromosome 18) was used. The analysis included 50 subjects employed in the Clinical Center of Serbia (C) (the average age of 45.24 ± 1.18 and the average exposition time 17.96 ± 1.15) and 40 subjects in control group (K) (the average age of 44.40 ± 0.98 and the average years of employment 19.67 ± 0.98 years) which were not exposed to genotoxic agents in their workplaces. The results showed that frequencies of CA and PCD were statistically significantly higher in subjects exposed to radionuclides than in the control group (Mann-Whitney U test, P [sr

A simple and reliable in vitro test system for the analysis of induced aneuploidy as well as other cytogenetic end-points using Chinese hamster cells

International Nuclear Information System (INIS)

Dulout, F.N.; Natarajan, A.T.

1987-01-01

Although aneuploidy is a serious human health problem, the experimental methodology devised until now to study the mechanisms involved in the induction of aneuploidy and for the screening of aneuploidy-inducing agents has not been so much employed to have the necessary validation. A procedure using primary cell cultures of Chinese hamster embryo cells grown on cover glasses is described. To avoid the excessive scattering and subsequent loss of chromosomes, a hypotonic treatment with a 0.17% sodium chloride solution, at room temperature, followed by in situ fixation has been standardized. This procedure improves the method through the reduction of the spontaneous frequency of aneuploid cells. Experiments carried out with cells treated with X-rays, X-rays plus caffeine, and the synthetic estrogen diethylstilbestrol (DES) demonstrated the accuracy of the system since the average chromosome number remained constant in spite of the induction of high frequencies of aneuploid cells. Moreover, the method allows for the analysis of other cytogenetic endpoints such as anaphase-telophase alterations, structural chromosome aberrations or sister chromatid exchanges. (author)

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.

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

Energy Technology Data Exchange (ETDEWEB)

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

1997-12-31

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

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

International Nuclear Information System (INIS)

Cebulska-Wasilewska, A.

1997-01-01

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

Cytogenetic biological dosimetry. Dose estimative in accidental exposure

International Nuclear Information System (INIS)

Santos, O.R. dos; Campos, I.M.A. de.

1988-01-01

The methodology of cytogenetic biological dosimetry is studied. The application in estimation of dose in five cases of accidental exposure is reported. An hematological study and culture of lymphocytes is presented. (M.A.C.) [pt

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 ...

[Study of cytogenetic and cytotoxic effect of non-contact electrochemically-activated waters in the five organs of rats].

Science.gov (United States)

Sycheva, L P; Mikhaĭlova, R I; Beliaeva, N N; Zhurkov, V S; Iurchenko, V V; Savostikova, O N; Alekseeva, A V; Kribtsova, E K; Kovalenko, M A; Akhal'tseva, L V; Sheremet'eva, S M; Iurtseva, N A; Murav'eva, L V; Kamenetskaia, D B

2014-01-01

For the first time the multiorgan karyological analysis of five organs of rats was applied for the study of the cytogenetic and cytotoxic action of the four types of non-contact electrochemically activated water in the 30-days in vivo experiment. The effects of investigated waters were not detected in bone marrow polychromatic erythrocytes. "Anolyte" (ORP = -362 mV) did not have a negative effect on rats. "Catholyte-5" (ORP = +22 mV) and "Catholyte-25" (ORP = -60 mV) induced cytogenetic abnormalities in the bladder and fore stomach. The same catholytes and "Catholyte-40" (ORP = -10 mV) changed the proliferation indices: increased the mitotic index in the fore stomach epithelium and reduced the frequency of binucleated cells in the fore stomach, bladder and lungs. The increase in the rate of cells with cytogenetic abnormalities on the background of the promotion of mitotic activity can be considered as a manifestation of the negative effect, typical for catolytes, but the effect of each out of them has its own features.

Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

Directory of Open Access Journals (Sweden)

Mohr Brigitte

2003-01-01

Full Text Available Abstract Background The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. Results We developed a simplified computer readable cytogenetic notation (SCCN by which chromosome findings are normalised at a resolution of 400 bands. Lost or gained chromosomes or chromosome segments are specified in detail, and ranges of chromosome breakpoint assignments are recorded. Software modules were written to summarise the recorded chromosome changes with regard to the respective chromosome involvement. To assess the degree of karyotype alterations the ploidy levels and numbers of numerical and structural changes were recorded separately, and summarised in a complex karyotype aberration score (CKAS. The SCCN and CKAS were used to analyse the extend and the spectrum of additional chromosome aberrations in 94 patients with Philadelphia chromosome positive (Ph-positive acute lymphoblastic leukemia (ALL and secondary chromosome anomalies. Dosage changes of chromosomal material represented 92.1% of all additional events. Recurring regions of chromosome losses were identified. Structural rearrangements affecting (pericentromeric chromosome regions were recorded in 24.6% of the cases. Conclusions SCCN and CKAS provide unifying elements between karyotypes and computer processable data formats. They proved to be useful in the investigation of additional chromosome aberrations in Ph-positive ALL, and may represent a step towards full automation of the analysis of large and complex karyotype databases.

Cytogenetic and molecular markers for detecting Aegilops uniaristata chromosomes in a wheat background.

Science.gov (United States)

Gong, Wenping; Li, Guangrong; Zhou, Jianping; Li, Genying; Liu, Cheng; Huang, Chengyan; Zhao, Zhendong; Yang, Zujun

2014-09-01

Aegilops uniaristata has many agronomically useful traits that can be used for wheat breeding. So far, a Triticum turgidum - Ae. uniaristata amphiploid and one set of Chinese Spring (CS) - Ae. uniaristata addition lines have been produced. To guide Ae. uniaristata chromatin transformation from these lines into cultivated wheat through chromosome engineering, reliable cytogenetic and molecular markers specific for Ae. uniaristata chromosomes need to be developed. Standard C-banding shows that C-bands mainly exist in the centromeric regions of Ae. uniaristata but rarely at the distal ends. Fluorescence in situ hybridization (FISH) using (GAA)8 as a probe showed that the hybridization signal of chromosomes 1N-7N are different, thus (GAA)8 can be used to identify all Ae. uniaristata chromosomes in wheat background simultaneously. Moreover, a total of 42 molecular markers specific for Ae. uniaristata chromosomes were developed by screening expressed sequence tag - sequence tagged site (EST-STS), expressed sequence tag - simple sequence repeat (EST-SSR), and PCR-based landmark unique gene (PLUG) primers. The markers were subsequently localized using the CS - Ae. uniaristata addition lines and different wheat cultivars as controls. The cytogenetic and molecular markers developed herein will be helpful for screening and identifying wheat - Ae. uniaristata progeny.

Cytogenetic consequence of radiation in epithelial kidney cells of a monkey

International Nuclear Information System (INIS)

Kosichenko, L.P.; Trots, A.A.

1980-01-01

The cytogenetic consequence of radiation in kidney epithelial cells of monkeys are studied 3.5-9 years after the cessation of everyday irradiation in small doses (2.99-4.9 R daily) and 6.0-12.5 years after single 550-652 R irradiation. The increased amount of reconstructed chromosomes is mainly conditioned by stable chromosome exchange; reconstructions of the non-stable type are also preserved. The cytogenetic consequence of irradiation is determined by various factors, radiation conditions and the total dose of radiation, in particular

Cytogenetic methods for the detection of radiation-induced chromosome damage in aquatic organisms

International Nuclear Information System (INIS)

Kligerman, A.D.

1979-01-01

One means of evaluating the genetic effects of radiation on the genomes of aquatic organisms is to screen radiation-exposed cells for chromosome aberrations. A brief literature review of studies dealing with radiation-induced chromosome damage in aquatic organisms is presented, and reasons are given detailing why most previous studies are of little quantitative value. Suggestions are made for obtaining adequate qualitative and quantitative data through the use of modern cytogenetic methods and a model systems approach to the study of cytogenetic radiation damage in aquatic organisms. Detailed procedures for both in vivo and in vitro cytogenetic methods are described, and experimental considerations are discussed. Finally, suggestions for studies that could be of value in establishing protective guidelines for aquatic ecosystems are presented. (author)

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.

State-of-the-art cytogenetic techniques to detect radiation damage induced by low doses bin human lymphocytes

International Nuclear Information System (INIS)

Hadjidekova, V.

2004-01-01

Cytogenetic techniques are the most sensitive and reliable tools for bio-monitoring and bio-dosimetry of people professionally or accidentally exposed to ionizing radiation. They are applied in addition to the evaluations of the physical dosimetry and they consider the individual radiosensitivity. The main potential risk for humans from exposure to low doses of ionizing radiations is the enhanced incidence of stochastic effects, i.e. carcinogenesis and heritable genetic effects. This report presents a comparative evaluation of the cytogenetic markers for radiation damage of humans and general conclusions of cytogenetic studies of chromosomal aberrations and micronuclei formation in individuals occupationally exposed to action of ionizing radiation. The sensitivity of the methods is compared and their great development and mastering during the last years, as well as the basis of their application - the relation between the frequency of cytogenetic markers observed in lymphocytes in peripheral blood and the risk of malignant disease. The advantages and disadvantages of different cytogenetic techniques are discussed. (author)

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 ...

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.

How to identify partial exposures to ionizing radiation? Proposal for a cytogenetic method

International Nuclear Information System (INIS)

Fernandes, T.S.; Silva, E.B.; Pinto, M.M.P.L.; Amaral, A.; Lloyd, David

2013-01-01

In cases of radiological incidents or in occupational exposures to ionizing radiation, the majority of exposures are not related to the total body, but only partial. In this context, if the cytogenetic dosimetry is performed, there will be an underestimation of the absorbed dose due to the dilution of irradiated cells with non-irradiated cells. Considering the norms of NR 32 - Safety and Health in the Work of Health Service - which recommends cytogenetic dosimetry in the investigation of accidental exposures to ionizing radiations, it is necessary to develop of a tool to provide a better identification of partial exposures. With this aim, a partial body exposure was simulated by mixing, in vitro, 70% of blood irradiated with 4 Gy of X-rays with 30% of unirradiated blood from the same healthy donor. Aliquots of this mixture were cultured for 48 and 72 hours. Prolonging the time of cell culture from 48 to 72 hours produced no significant change in the yield of dicentrics. However, when only M1 (first division cells) were analyzed, the frequency of dicentrics per cell was increased. Prolonging the time of cell culture allowed cells in mitotic delay by irradiation to reach metaphase, and thus provides enough time for the damage to be visualized. The results of this research present the proposed method as an important tool in the investigation of exposed individuals, allowing associating the cytogenetic analysis with the real percentage of irradiated cells, contributing significantly for the decision making in terms of occupational health. (author)

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.

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

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.

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.

Radiation-induced malignant tumours: a specific cytogenetic profile?

International Nuclear Information System (INIS)

Chauveinc, L.; Gaboriaux, G.; Dutrillaux, A. M.; Dutrillaux, B.; Chauveinc, L.; Ricoul, M.; Sabatier, L.; Dutrillaux, B.

1997-01-01

To date, there is no criterion enabling to determine the spontaneous or radio-induced origin of malignant tumour occurring in a previously irradiated patient. Biological studies are rare. The cytogenetic data which could be found in the literature for eleven radio-induced tumours suggest that aneuploidies and polyclonality are frequent events. We studied, by R-Banding cytogenetic technique, five patients with short-term cultures (3 cases), short and long-term cultures (1 case) and xeno-grafting on nude pattern a high rate of balanced translocations, numerous random break points and a polyclonal evolution (10 clones). All other tumours, including the xeno-grafting sarcoma, had a monoclonal profile with complex karyotypes, hypo-diploid formulas and many deletions. These results show that the mechanism of radiation-induced tumours frequently involves chromosomes losses and deletions. The most likely explanation is that these alterations unmask radiation induced recessive mutations of tumour suppressor genes. (authors)

Cytogenetic support for primacy prostatic cancer in a patient presenting with a soft tissue mass in the leg

NARCIS (Netherlands)

Molenaar, WM; Stoepker, MEJ; deRuiter, AJ; Hoekstra, HJ; vandenBerg, E

A 65-year-old man presented with a soft tissue mass in the leg, clinically suspect of a sarcoma. Histologic examination suggested a metastatic adenocarcinoma of the prostate, which could not be confirmed by immunohistologic studies. However, cytogenetic analysis strongly supported this diagnosis. A

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

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

International Nuclear Information System (INIS)

Hagmar, Lars; Stroemberg, Ulf; Mikoczy, Zoli; Tinnerberg, Hakan; Skerfving, Staffan; Bonassi, Stefano; Lando, Cecilia; Hansteen, Inger-Lise; Montagud, Alicia Huici; Knudsen, Lisbeth; Norppa, Hannu; Reuterwall, Christina; Broegger, Anton; Forni, Alessandra; Hoegstedt, Benkt; Lambert, Bo; Mitelman, Felix; Nordenson, Ingrid; Salomaa, Sisko

1998-01-01

The cytogenetic endpoints in peripheral blood lymphocytes: chromosomal aberrations (CA), sister chromatid exchange (SCE) and micronuclei (MN) are established biomarkers of exposure for mutagens or carcinogens in the work environment. However, it is not clear whether these biomarkers also may serve 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

Genetic and cytogenetic analysis of the olive fruit fly Bactrocera oleae (Diptera: Tephritidae).

Science.gov (United States)

Mavragani-Tsipidou, P

2002-09-01

The genetic and cytogenetic characteristics of one of the major agricultural pests, the olive fruit fly Bactmcera oleae, are presented here. The mitotic metaphase complement of this insect consists of six pairs of chromosomes including one pair of heteromorphic sex chromosomes, with the male being the heterogametic sex. The analysis of the polytene complements of three larval tissues, the fat body, the salivary glands and the Malpighian tubules of this pest has shown (a) a total number of five long chromosomes (10 polytene arms) that correspond to the five autosomes of the mitotic nuclei and a heterochromatic mass corresponding to the sex chromosomes, (b) the constancy of the banding pattern of the three somatic tissues, (c) the absence of a typical chromocenter as an accumulation of heterochromatin, (d) the existence of reverse tandem duplications, and (e) the presence of toroid tips of the chromosome arms. The in situ hybridization of genes or DNA sequences to the salivary gland polytene chromosomes of B. oleae provided molecular markers for all five autosomes and permitted the establishment of chromosomal homologies among B. olea, B. tryoni and Ceratitis capitata. The heat shock response of B. oleae, as revealed by heat-inducible puffing and protein pattern, shows a higher thermotolerance than Drosophila melanogaster.

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

Science.gov (United States)

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

2009-01-01

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

Customized laboratory information management system for a clinical and research leukemia cytogenetics laboratory.

Science.gov (United States)

Bakshi, Sonal R; Shukla, Shilin N; Shah, Pankaj M

2009-01-01

We developed a Microsoft Access-based laboratory management system to facilitate database management of leukemia patients referred for cytogenetic tests in regards to karyotyping and fluorescence in situ hybridization (FISH). The database is custom-made for entry of patient data, clinical details, sample details, cytogenetics test results, and data mining for various ongoing research areas. A number of clinical research laboratoryrelated tasks are carried out faster using specific "queries." The tasks include tracking clinical progression of a particular patient for multiple visits, treatment response, morphological and cytogenetics response, survival time, automatic grouping of patient inclusion criteria in a research project, tracking various processing steps of samples, turn-around time, and revenue generated. Since 2005 we have collected of over 5,000 samples. The database is easily updated and is being adapted for various data maintenance and mining needs.

Results of cytogenetic surveillance of rural populations adjoining to Semipalatinsk test site

International Nuclear Information System (INIS)

Abdil'dinova, G.Zh.; Kundakbaeva, G.B.; Zhunusova, A.B.

1997-01-01

Purpose of the work is study of somatic cytogenetic effects with taking into consideration chromosomal aberration of population from Beskaragaj district of Semipalatinsk region exposed to influence of conducted nuclear tests on Semipalatinsk test site. Cultures of lymphocyates of peripheral flood were studied. Control group made up 15 man living in Akmola region locating out of radiation contaminated zone. It is determined, that common frequency of chromosomal aberration make up 3.6 on 100 cells. At that frequency of pair fragments made up 2.0 on 100 metaphases (0.2 in control group); dicentrics and center rings were revealed with summary frequency 0.6 on 100 metaphases and that is approximately in 15 fold greater than control index - 0.03 on 100 cells. Stable radiation markers (translocations, deletions) revealed with frequency 1.07 on 100 cells (control make up 0.4 on 100 cells). By results of of conducted cytogenetic analysis the attempt of mean group effective equivalent dose reconstruction received with inhabitants of Beskaragaj district is undertaken. It was calculated, that population of researched district have been got dose loading in 9.09 rem

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

Directory of Open Access Journals (Sweden)

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.

Cytogenetic activity of the coumarin glucoside seseloside

International Nuclear Information System (INIS)

Arshava, E.A.

1986-01-01

The cytogenetic effect of the coumarin glucoside seseloside on plant objects was studied. It was established that low concentrations of the preparation (from 1 x 10 -5 to 1 x 10 -3 μg/ml) inhibit both spontaneous and radiation-induced mutagenesis. The effect of high concentrations (10 and 100 μg/ml) causes a mutagenic effect

Plant genotoxicity: a molecular cytogenetic approach in plant bioassays.

Science.gov (United States)

Maluszynska, Jolanta; Juchimiuk, Jolanta

2005-06-01

It is important for the prevention of DNA changes caused by environment to understand the biological consequences of DNA damages and their molecular modes of action that lead to repair or alterations of the genetic material. Numerous genotoxicity assay systems have been developed to identify DNA reactive compounds. The available data show that plant bioassays are important tests in the detection of genotoxic contamination in the environment and the establishment of controlling systems. Plant system can detect a wide range of genetic damage, including gene mutations and chromosome aberrations. Recently introduced molecular cytogenetic methods allow analysis of genotoxicity, both at the chromosomal and DNA level. FISH gives a new possibility of the detection and analysis of chromosomal rearrangements in a great detail. DNA fragmentation can be estimated using the TUNEL test and the single cell gel electrophoresis (Comet assay).

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

Science.gov (United States)

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.

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.

Position of cytogenetic examination of cosmonauts for the space radiation exposure estimate

Science.gov (United States)

Snigiryova, Galina; Novitskaya, Natalia; Fedorenko, Boris

The cytogenetic monitoring was carried out to evaluate of radiation induced stable and un-stable chromosome aberration frequency in peripheral blood lymphocytes of cosmonauts who participated in flights on Mir Orbital Station and ISS (International Space Station). In the period of 1992 -2008 chromosome aberrations in 202 blood samples from 48 cosmonauts were analyzed using the conventional method. In addition 23 blood samples from 12 cosmonauts were analyzed using FISH (fluorescence in situ hybridization) technique. Whole chromosome painting probes for chromosomes 1, 4 and 12 were used simultaneously with a pancentromeric probe. Samples taken before and after the flights were analyzed. Long-term space flights led to an increase of stable (FISH method) and unstable (conventional method) chromosome aber-ration frequencies. The frequencies of dicentrics and centric rings depend on the space flight duration and accumulated dose value. Extravehicular activity also adds to chromosome aber-ration frequency in blood lymphocytes of cosmonauts. Several years after the space flight the increased level of unstable chromosome aberrations is still apparent. The radiation load was decreased for cosmonauts after taking ISS over from MIR station. The cytogenetic results were in agreement with data of physical dosimetry. The dose interval after the first flight, estimated by the frequency of dicentrics, was 113-227 mSv for long-term flights (73 -199 days) and 53-107 mSv for short-term flights (1 -21 days). According to the frequency of FISH translocations, the average dose after the first long-term flight was 186 mSv, which is comparable with estimates made from the dicentric assay. Cytogenetic examination of cosmonauts, including analysis of dicentrics (conventional method) and translocations (FISH method) should find wider applica-tion to assessment of radiation effects associated with long-term space flights such as flights to Mars.

A cytogenetic model predicts relapse risk and survival in patients with acute myeloid leukemia undergoing hematopoietic stem cell transplantation in morphologic complete remission.

Science.gov (United States)

Rashidi, Armin; Cashen, Amanda F

2015-01-01

Up to 30% of patients with acute myeloid leukemia (AML) and abnormal cytogenetics have persistent cytogenetic abnormalities (pCytAbnl) at morphologic complete remission (mCR). We hypothesized that the prognostic significance of pCytAbnl in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) in mCR varies with cytogenetic risk group. We analyzed the data on 118 patients with AML and abnormal cytogenetics who underwent HSCT in mCR, and developed a risk stratification model based on pCytAbnl and cytogenetic risk group. The model distinguished three groups of patients (Pcytogenetics (n=25) had the shortest median time to relapse (TTR; 5 months), relapse-free survival (RFS; 3 months), and overall survival (OS; 7 months). The group with favorable/intermediate risk cytogenetics and without pCytAbnl (n=43) had the longest median TTR (not reached), RFS (57 months), and OS (57 months). The group with pCytAbnl and favorable/intermediate risk cytogenetics, or, without pCytAbnl but with unfavorable risk cytogenetics (n=50) experienced intermediate TTR (18 months), RFS (9 months), and OS (18 months). In conclusion, a cytogenetic risk model identifies patients with AML in mCR with distinct rates of relapse and survival following HSCT. Copyright © 2014 Elsevier Ltd. All rights reserved.

Cytogenetic effects induced by radiotherapy of cancer patients

International Nuclear Information System (INIS)

Ekhtiar, A.; Al-Achkar, W.

2008-03-01

Ionizing radiation plays a key role in the treatment of many neoplasias. But it is well known that ionizing radiation induce wide specter of DNA damages, including SSBs, DSBs, base damage, and DNA-protein cross links. As a consequence, a second tumor may be developed after the primary tumor therapy. Attempts have been made to evaluate the genotoxicity of ionizing radiation in patients undergoing radiotherapy. In the present work, the cytogenetic damage present in peripheral blood lymphocytes of patients (29 donors) treated with fractionated partial-body radiation therapy for Head-and-neck cancer patient was followed before, during and at the end of treatment by means of the cytokinesis-block micronucleus assay. These patients had no previous chemotherapy or radiotherapy. Our results indicate that the level of spontaneous cytogenetic damage in cancer patients and smokers control (3 donors) were higher than in healthy non smoking controls (3 donor). During and after treatment, increased of micronucleus cells frequencies were observed with increasing treatment doses.(author)

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 cytogenetic findings in children with ALL reported in Argentina. PMID:26648836

Cytogenetic biodosimetry using the blood lymphocytes of astronauts

Science.gov (United States)

George, Kerry A.; Rhone, Jordan; Chappell, Lori J.; Cucinotta, Francis A.

2013-11-01

Cytogenetic analysis of peripheral blood lymphocytes is the most sensitive and reliable method currently available for in vivo assessment of the biological effects of exposure to radiation and provides the most informative measurement of radiation induced health risks. Data indicates that space missions of a few months or more can induce measureable increases in the yield of chromosome damage in the blood lymphocytes of astronauts that can be used to estimate an organ dose equivalent, and biodosimetry estimates lie within the range expected from physical dosimetry. Space biodosimetry poses some unique challenges compared to terrestrial biological assessments of radiation exposures, but 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. Moreover if chromosome damage persists in the blood for many years, results can be used for retrospective dose reconstruction. 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 health risk incurred by crewmembers. The current paper presents a review of astronaut biodosimetry data, along with recently derived data on the relative cancer risk estimated using the quantitative approach derived from the European Study Group on Cytogenetic Biomarkers and Health database.

Cytogenetic characterization in individuals of the genus lagothrix in Colombia (primates: Atelidae)

International Nuclear Information System (INIS)

Rengifo, Laura Yissel; Bueno, Marta Lucia

2011-01-01

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.

Cytogenetic effects in adolescents from different areas of Kemerovskaya oblast'

International Nuclear Information System (INIS)

Druzhinin, V.G.; Lifanov, A.Y.; Golovina, T.A.

1995-01-01

Considerable variations in the frequency of spontaneous chromosomal aberrations were revealed during a cytogenetic study of two groups of adolescents from ecologically different areas of Kemerovskaya oblast'. In a sample of adolescents living in an industrial center (the Kemerovo city), this parameter (1.4±0.37%) did not exceed the population average value, whereas adolescents of the same age from a mountain region with sparse industry (the town of Tashtagol) exhibited, on average, a frequency of 5.87±0.62%. An increased proportion of chromosomal-type aberrations in the qualitative spectrum of cytogenetic damage, which was observed for the group of adolescents from Tashtagol, suggests that this population was exposed to radiation. 13 refS., 1 fig., 3 tabs

Cytogenetic and molecular genetic analysis of leukemias found in atomic bomb survivors

International Nuclear Information System (INIS)

Kamada, Nanao; Tanaka, Kimio; Eguchi, Mariko

1994-01-01

Seventy five radiation-related leukemia patients in Hiroshima including 16 patients exposed to more than one Gray were cytogenetically examined. Statistical analysis of data on the frequencies of chromosomal aberrations in the survivor groups according to bone marrow doses by DS86 estimation revealed that the heavily exposed group tended to have significantly higher aberration rates compared to the non-exposed group. Furthermore, the chromosomal aberrations in the survivors were observed to be of a more complex nature and had the characteristic findings of secondary leukemia. These observations therefore suggest that patients with a history of heavy exposure to atomic bomb radiation had leukemic cells originating from a stem cell which had been damaged by irradiation at the time of the bombing as well as cells involved in complex chromosome abnormalities. A higher incidence(p=0.06) of 11q23 abnormality was found in acute leukemia patients who had a history of exposure to A-bomb and developed from 1986 to 1993. However, we could not detect rearrangement of MLL gene in these patients. Break point region on 11q23 of radiation induced leukemias may be different from the common 8.5 kb region. Molecular biologic studies on RAS genes in acute and chronic leukemias and the BCR gene in chronic myelocytic leukemia were performed in exposed and non-exposed groups. So far, no distinctive differences have been observed in the frequency and sites of point mutations in N and K-RAS genes or in the rearrangement of the BCR gene. Further, retrospective analysis using DNA from leukemia patients who developed the disease in the early period from atomic bomb radiation exposure would be useful for elucidation of the mechanisms of radiation-induced leukemia. (author)

Delayed repair of DNA single-strand breaks does not increase cytogenetic damage

International Nuclear Information System (INIS)

Morgan, W.F.; Djordjevic, M.C.; Jostes, R.F.; Pantelias, G.E.

1985-01-01

DNA damage and cytogenetic effects of ionizing radiation were investigated in Chinese hamster ovary (CHO) cells and unstimulated human peripheral blood lymphocytes. DNA damage and repair were analysed by alkaline elution under conditions that predominantly measured DNA single-strand breaks (ssb). X-radiation (2.5 Gy) induced ssb in both CHO cells and unstimulated lymphocytes, and the breaks were repaired within 30 and 90 min, respectively. This rapid repair was delayed by the poly(ADP-ribose) polymerase inhibitor, 3-aminobenzamide (3AB). The cytogenetic effects of the 3AB-induced delay in DNA repair were examined by analysing sister chromatid exchange (SCE) frequency in CHO cells and fragmentation of prematurely condensed chromosomes (PCC) in unstimulated human lymphocytes after 2.5 Gy of X-rays. Although 3AB delayed the rejoining of DNA ssb, this delay did not result in increased cytogenetic damage manifested as either SCE or fragmentation of PCC. These results indicate that the rapidly rejoining DNA ssb are not important in the production of chromosome damage. (author)

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

Science.gov (United States)

Venegas-Vega, Carlos A.; Zepeda, Luis M.; 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. PMID:23484094

Genome‐wide analysis of cytogenetic aberrations in ETV6/RUNX1‐positive childhood acute lymphoblastic leukaemia

DEFF Research Database (Denmark)

Borst, Louise; Wesolowska, Agata; Joshi, Tejal

2012-01-01

The chromosomal translocation t(12;21) resulting in the ETV6/RUNX1 fusion gene is the most frequent structural cytogenetic abnormality among patients with childhood acute lymphoblastic leukaemia (ALL). We investigated 62 ETV6/RUNX1‐positive childhood ALL patients by single nucleotide polymorphism...... childhood ALL, which may be important for understanding poor responses among this otherwise highly curable subset of ALL and lead to novel targeted treatment strategies....

Cytogenetic biological dosimetry in radiological protection: chromosome aberration analysis in human lymphocyties

International Nuclear Information System (INIS)

Campos, I.M.A. de.

1988-01-01

The effects of ionizing radiation on chromosomes have been know for several decades and dose effect relationships are also fairly well established for several doses and dose rates. Apart from its biological significance, the interpretation of chromosome aberration frequency associated with human exposure to radiation plays an important role in dose assessment, particularly in cases where exposure is though to have occurred but no physical dose monitoring system was present. Based on the cytogenetic data obtained from seven cases of exposure to radiation the aberration frequency have been fitted to the quadratic function Y= αD + βD 2 as the dose response curves from literature. The dose equivalent estimate by frequency of chromosomic aberration found here was compared with 60 Co and 192 Ir already published curves obtained at almost similar dose rate together with some hematological data. (author) [pt

Detection of chromosomal changes in chronic lymphocytic leukemia using classical cytogenetic methods and FISH: application of rich mitogen mixtures for lymphocyte cultures.

Science.gov (United States)

Koczkodaj, Dorota; Popek, Sylwia; Zmorzyński, Szymon; Wąsik-Szczepanek, Ewa; Filip, Agata A

2016-04-01

One of the research methods of prognostic value in chronic lymphocytic leukemia (CLL) is cytogenetic analysis. This method requires the presence of appropriate B-cell mitogens in cultures in order to obtain a high mitotic index. The aim of our research was to determine the most effective methods of in vitro B-cell stimulation to maximize the number of metaphases from peripheral blood cells of patients with CLL for classical cytogenetic examination, and then to correlate the results with those obtained using fluorescence in situ hybridization (FISH). The study group involved 50 consecutive patients with CLL. Cell cultures were maintained with the basic composition of culture medium and addition of respective stimulators. We used the following stimulators: Pokeweed Mitogen (PWM), 12-O-tetradecanoylphorbol 13-acetate (TPA), ionophore, lipopolysaccharide (LPS), and CpG-oligonucleotide DSP30. We received the highest mitotic index when using the mixture of PWM+TPA+I+DSP30. With classical cytogenetic tests using banding techniques, numerical and structural aberrations of chromosomes were detected in 46 patients, and no change was found in only four patients. Test results clearly confirmed the legitimacy of using cell cultures enriched with the mixture of cell stimulators and combining classical cytogenetic techniques with the FISH technique in later patient diagnosing. Copyright © 2016 American Federation for Medical Research.

Significance of molecular-cytogenetic aberrations for the achievement of first remission in de novo acute myeloid leukemia

Directory of Open Access Journals (Sweden)

Boriana M. Zaharieva

2008-12-01

Full Text Available OBJECTIVE: The majority of adults diagnosed with acute myeloid leukemia (AML display acquired cytogenetic aberrations at presentation. In this article, we present the major cytogenetic findings regarding AML and review their clinical significance for achievement of the first complete remission.METHODS: We studied 71 adult patients with de novo AML, without previous myelodysplasia or alkylating therapy. Conventional cytogenetics and FISH were performed on bone marrow cells. The patients with AML were assigned to 12 subgroups according to established data for cytogenetic, molecular and general laboratory results. The selection of the analyzed parameters is consistent with internationally accepted “prognostic factors” in adult AML.RESULTS: Complete remission upon induction therapy was achieved in 40% of cases (in a mean period of 2.3 months from therapy initiation. The patients with t(15;17 PML-RARA and inv(16/CBFbeta-MYH11ë demonstrated the highest frequency of complete remission. Patients with hypodiploidy, t(9;22/bcr-abl and complex karyotypes were therapy-resistant or died within the first three months after AML diagnosis. CONCLUSION: Molecular-cytogenetic findings have an important significance for achievement of first complete remission. However, laboratory and biologic features (age, WBC and LDH and type of AML have a large influence on the disease outcome.

Molecular cytogenetic characterization of alien introgressions with gene Fhb3 for resistance to Fusarium head blight disease of wheat

Science.gov (United States)

Fusarium head blight (FHB) resistance was identified in the alien species Leymus racemosus, and wheat-Leymus introgression lines with FHB resistance were reported previously. Detailed molecular cytogenetic analysis of alien introgressions T01, T09, and T14 and the mapping of Fhb3, a new gene for FHB...

Cytogenetics of acute leukaemia

Energy Technology Data Exchange (ETDEWEB)

Rowley, J D

1978-06-01

The study of chromosomal abnormalities in patients with acute leukemia, begun just 20 years ago, has provided haematologists with new insights into the nature of this disease. It soon became evident that the modal chromosomal number and the chromosomal pattern (karyotype) appeared to be quite variable. Moreover, a number of patients appeared to have a normal karyotype. The early studies were frequently carried out using mitogen-stimulated peripheral blood cells, and one could argue that the analysis was not based on the leukemic cells. Since many of the patients with abnormalities were examined prior to treatment, the aberrations were not induced by therapy. It was noted quite early that the morphology of chromosomes from the leukemic cells was very fuzzy as compared with the chromosomes from the normal marrow cells. The reason for the poor morphology is still not understood. The results of chromosomal analysis of bone marrow-derived cells obtained from patients with acute leukemia appear to have prognostic significance, although this information is not currently being used in making decisions regarding the treatment of individual patients. The data from analyses with banding techniques reveal that there are non-random patterns of abnormalities, which supports the concept proposed by Boveri in 1914 that chromosomal aberrations are among the fundamental changes associated with malignancy. The acute non-lymphocytic leukemias (ANLL) of adults are one of the most thoroughly studied of human malignancies. Presentation of the results of cytogenetic analysis with banding of myeloid cells from these patients forms the major portion of this chapter. Recent reports on banding studies in acute lymphocytic leukemia (ALL) will be discussed and results will be compared with ANLL. Although there are very few data on the karyotypes of leukemia occurring as a second malignancy, the abnormalities seen show some distinct differences from ANLL that arises de novo.

Chromosomal aberrations in chronic lymphocytic leukemia detected by conventional cytogenetics with DSP30 as a single agent: comparison with FISH.

Science.gov (United States)

Kotkowska, Aleksandra; Wawrzyniak, Ewa; Blonski, Jerzy Z; Robak, Tadeusz; Korycka-Wolowiec, Anna

2011-08-01

The aim of our study was to estimate the usefulness for conventional cytogenetics (CC) of DSP30 as a single agent (CC-DSP30) for detecting the most important chromosomal aberrations revealed in CLL by FISH and to find other abnormalities possibly existing but undetected by FISH with standard probes. Using CC-DSP30, the metaphases suitable for analysis were obtained in 90% of patients. CC-DSP30 and FISH were similarly efficacious for detecting del(11)(q22) and trisomy 12, whereas FISH was more sensitive for del(13)(q14). Sole del(13)(q14) detected by FISH, in 50% of patients was associated with other aberrations revealed by CC-DSP30. Additionally, the most recurrent anomaly detected by CC-DSP30 were structural aberrations of chromosome 2. Copyright © 2011 Elsevier Ltd. All rights reserved.

Cytogenetic characterization of Encyclia caximboensis cultivated in vitro (Orchidaceae

Directory of Open Access Journals (Sweden)

Gizelly Mendes Silva

2015-12-01

Full Text Available Encyclia caximboensis is an Amazonian species endemic to the Serra do Cachimbo, which is located between the northern of the Mato Grosso state and the southern part of Para state. Studies reporting in vitro cultivation and cytogenetic characterization of this species are still scarce. Therefore, the objective of this work was to determine the cytogenetic characteristics and to identify the nucleolar organizer regions (NORs of the species E. Caximboensis, cultivated in vitro. Seeds of E. caximboensis were disinfected using a syringe and subsequently cultivated in MS medium without growth regulators. The germination started after 20 days of culture, with the development of protocorm and 40,500 seedlings were obtained after 90 days of culture. To perform the cytogenetic characterization, root tips of 180-day-old seedlings were submitted to blocking treatment using 3 µM trifiuralin and then fixed in methanol-acetic acid solution, 3:1 (v/v. The meristems were submitted to enzymatic digestion, fixed in methanol-acetic acid solution, 3:1 (v/v and the slides were stained using 5% Giemsa solution. Ag-NOR banding was carried out on 20-day-old slides by incubation in 50% silver nitrate solution (AgNO3 for 19 hours. The results indicated that E. caximboensis has 2n=2x=24 with all metacentric type chromosomes, ranging from 1.88 to 0.66 pm in length, with simple NORs in small blocks localized in the proximal region of the third chromosome pair.

Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies

International Nuclear Information System (INIS)

2011-01-01

Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade.

Cytogenetically confirmed primary Ewing's sarcoma of the pancreas.

Science.gov (United States)

Golhar, Ankush; Ray, Samrat; Haugk, Beate; Singhvi, Suresh Kumar

2017-05-04

Ewing's sarcoma is a highly aggressive malignant tumour most commonly affecting long bones in children and adolescents. It is part of the Ewing's sarcoma family of tumours (ESFTs) that also include peripheral primitive neuroectodermal tumour and Askin's tumours. ESFTs share common cytogenetic aberrations, antigenic profiles and proto-oncogene expression with an overall similar clinical course. In 99% of ESFTs, genetic translocation with molecular fusion involves the EWSR1 gene on 22q12. Approximately 30% of ESFTs are extraosseous, most commonly occurring in the soft tissues of extremities, pelvis, retroperitoneum and chest wall. Primary presentation in solid organs is very rare but has been described in multiple sites including the pancreas. Accurate diagnosis of a Ewing's sarcoma in a solid organ is critical in facilitating correct treatment. We report the case of a 17-year-old girl with cytogenetically confirmed primary pancreatic Ewing's sarcoma and provide a brief review of the published literature. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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.

Cytogenetic and morphological diversity in populations of Astyanax fasciatus (Teleostei, Characidae from Brazilian northeastern river basins

Directory of Open Access Journals (Sweden)

Aline Souza Medrado

2008-01-01

Full Text Available In the present work, morphometric and cytogenetic analyses were carried out in populations of the fish Astyanax fasciatus (Characidae from Contas and Recôncavo Sul River basins (State of Bahia, Brazil, providing new data on the genetic structure of this species along the region. Based on morphologic measurements, we observed that populations from the same hydrographic basin were more similar to each other (Contas and Preto do Costa Rivers, and remarkably divergent from Recôncavo Sul (Mineiro Stream, as indicated by clustering analysis. Cytogenetic data revealed a same diploid number for all populations (2n = 48, but distinct karyotype formulae (8M+24SM+12ST+4A, FN = 92 in Contas River, 8M+24SM+10ST+6A, FN = 90 in Preto do Costa River, and 8M+18SM+16ST+6A, FN = 90 in Mineiro Stream. Ag-NORs were identified at telomeres on a subtelocentric chromosome pair, although multiple ribosomal sites have been detected in some specimens from Contas River. These results show that A. fasciatus populations from northeastern river basins are well differentiated and present peculiar cytogenetic features when compared to populations from other regions. Therefore, the apparent chromosomal plasticity of this species, likely to represent a complex of cryptic forms, is corroborated. Finally, we demonstrated that morphological features can be successfully used to support other sources of genetic information.

Cytogenetic effects of radiation from Chernobyl nuclear accident on humans and animals in the contaminated area of Belarus

International Nuclear Information System (INIS)

Yeliseeva, K.; Mikhalevich, L.; Kartel, N.

1995-01-01

Cytogenetic monitoring of amphibian and rodent populations, and children from the radio contaminated regions of the Republic of Belarus was conducted as a follow up to Chernobyl nuclear accident. A statistically significant increase in the levels of cytogenetic damage in bone marrow cells of amphibians and rodent and in peripheral blood lymphocytes of children was found. The presence of chromosome-type aberrations supports the conclusion that radiation is the causative agent. However, no direct relationship between the level of radionuclide contamination and the degree of the cytogenetic damage was found. (Author)

Cytogenetic damages induced in vivo in human lymphocytes by environmental chemicals or radiation

International Nuclear Information System (INIS)

Cebulska-Wasilewska, A.

1999-01-01

The importance of various environmental exposures has been evident in variation in cancer incidence and mortality. Benzene is considered to be a human carcinogen, is clastogenic to rodents and humans, and it affects the immune response. Workers in various industrial plants, are exposed to benzene and benzene related compounds as a result of various activities in which benzene is processed, generated or used. Major sources of environmental exposure to benzene related compounds, continue to be active and passive smoking, auto exhaust, and driving or riding in automobiles. Benzene is of a particular interest, not only because of its known toxicity, but also because this was to be the parent compound and a model for extensive programs of metabolism of a variety of aromatic chemicals. Ionizing radiation is an unavoidable physical agent that is presented in environment, and public opinion is well aware against radiation risk and strongly against it. The aim of the presentation was comparison between cytogenetic damages induced in vivo by environmental chemicals with those of radiation. Results from biomonitoring survey on genotoxicity in human blood cells of benzene and benzene related compounds were compared to damages detected in lymphocytes of persons who had been accidentally exposed to gamma radiation. In the groups, that had been occupationally or environmentally exposed to benzene related compound, total aberration frequencies, or percent of aberrant cells ranged between 0 - 0.16 aberrations/cell or 16% of aberrant cells respectively. A multivariate regression analysis confirmed: (i) a significant association between cytogenetic damage and exposure to benzene related compound, (ii) a possible association between cytogenetic damage and cancer, (iii) a significant influence of smoking habit. In 1996 few persons were suspected of accidental exposure to gamma radiation. To estimate the absorbed doses, lymphocytes from their blood have been analyzed for the presence of

Immunostimulatory oligonucleotide-induced metaphase cytogenetics detect chromosomal aberrations in 80% of CLL patients: A study of 132 CLL cases with correlation to FISH, IgVH status, and CD38 expression.

Science.gov (United States)

Dicker, Frank; Schnittger, Susanne; Haferlach, Torsten; Kern, Wolfgang; Schoch, Claudia

2006-11-01

Compared with fluorescence in situ hybridization (FISH), conventional metaphase cytogenetics play only a minor prognostic role in chronic lymphocytic leukemia (CLL) so far, due to technical problems resulting from limited proliferation of CLL cells in vitro. Here, we present a simple method for in vitro stimulation of CLL cells that overcomes this limitation. In our unselected patient population, 125 of 132 cases could be successfully stimulated for metaphase generation by culture with the immunostimulatory CpG-oligonucleotide DSP30 plus interleukin 2. Of 125 cases, 101 showed chromosomal aberrations. The aberration rate is comparable to the rate detected by parallel interphase FISH. In 47 patients, conventional cytogenetics detected additional aberrations not detected by FISH analysis. A complex aberrant karyotype, defined as one having at least 3 aberrations, was detected in 30 of 125 patients, compared with only one such case as defined by FISH. Conventional cytogenetics frequently detected balanced and unbalanced translocations. A significant correlation of the poor-prognosis unmutated IgV(H) status with unbalanced translocations and of the likewise poor-prognosis CD38 expression to balanced translocations and complex aberrant karyotype was found. We demonstrate that FISH analysis underestimates the complexity of chromosomal aberrations in CLL. Therefore, conventional cytogenetics may define subgroups of patients with high risk of progression.

In situ hybridization (ISH) in a cytogenetic; Hybrydyzacja in situ w genetyce

Energy Technology Data Exchange (ETDEWEB)

Zawada, M. [Polska Akademia Nauk, Poznan (Poland). Zaklad Genetyki Czlowieka; Latos-Bielenska, A. [Akademia Medyczna, Poznan (Poland)

1993-12-31

Nucleic acids contain genetic information for structure and function of cell organism. The information bearing sequences of DNA, know as genes, are spread along DNA molecule. ISH is one of the best and the most-direct techniques available for studies on gene localization, structure and expression. It combines technical achievements of molecular biology and cytogenetic. Application of ISH provides an opportunity to visualize specific DNA or RNA sequences in preparations of chromosomes, cells or tissue sections. It has been used widely both in research (genes mapping and expression, genome evolution, nuclear topography, mitosis, meiosis) as well as in clinical studies (clinical cytogenetic, prenatal diagnostics, cancer diagnostics). (author). 46 refs.

Human oocyte chromosome analyses need a standardized ...

Indian Academy of Sciences (India)

Studies of DNA polymorphisms in human trisomic abor- tions and liveborn have ... Keywords. human oocyte chromosomes; cytogenetic analysis; aneuploidy; nondisjunction; predivision. Journal of .... oocytes and giant embryos. Hum. Reprod.

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.

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.

Science.gov (United States)

Selicorni, Angelo; Guerneri, Silvana; Ratti, Antonia; Pizzuti, Antonio

2002-01-01

An Italian family in which Waardenburg syndrome type II (WS2) segregates together with a der(8) chromosome from a (4p;8p) balanced translocation was studied. Cytogenetic analysis by painting and subtelomeric probe hybridization positioned the chromosome 8 breakpoint at p22-pter. Fluorescence in situ hybridization analysis with yeast artificial chromosomes from a contig spanning the 8p21-pter region refined the breakpoint in an interval of less than 170 kb between markers WI-3823 and D8S1819. The only cloned gene for WS2 is that for microphtalmia (MITF) on chromosome 3p. In this family, MITF mutations were excluded by sequencing the whole coding region. The 8p23 region may represent a third locus for WS2 (WS2C).

Mild hyperthermia can induce adaptation to cytogenetic damage caused by subsequent X irradiation

International Nuclear Information System (INIS)

Cai, Lu.; Jiang, Jie.

1995-01-01

Many low-level environmental agents are able to induce an increased resistance to subsequent mutagenic effects induced by ionizing radiation. In this paper, an induced cytogenetic adaptation to radiation in human lymphocytes was studied with mild hyperthermia as the adaptive treatment and compared with that induced by low-dose radiation. We found that this adaptation could be induced not only in PHA-stimulated human lymphocytes (at 14, 38 and 42 h after addition of PHA), but also in unstimulated G 0 -phase cells (before addition of PHA) by mild hyperthermia (41 degrees C for 1 h) as well as 50 mGy X rays. When the two adaptive treatments were combined, no additive effects on the magnitude of the adaptation induced were observed, suggesting that low-dose radiation and hyperthermia may share one mechanism of induction of adaptation to cytogenetic damage. Some mechanisms which may be involved in the induction of adaptation to cytogenetic damage by low-dose radiation are discussed and compared with the effects of mild hyperthermia in inducing thermotolerance and radioresistance. 56 refs., 4 figs., 3 tabs

Cytogenetics and molecular genetics of Wilms' tumor of childhood

NARCIS (Netherlands)

Slater, R. M.; Mannens, M. M.

1992-01-01

We describe the way in which application of cytogenetic and molecular genetic techniques to the study of Wilms' tumor (WT) of the kidney and the associated congenital disorders, such as sporadic aniridia and the Beckwith-Wiedemann syndrome, has led to identification of two regions on the short arm

Cytogenetic studies on recipients of allogeneic bone marrow transplants after fractionated total body irradiation

Energy Technology Data Exchange (ETDEWEB)

Schmitz, N; Goedde-Salz, E; Loeffler, H [Christian-Albrechts-Univ., Kiel (Germany, F.R.)

1985-06-01

Cytogenetic findings from the bone marrow (BM) and the peripheral blood (PB) of nine consecutive patients after allogeneic bone marrow transplantation (BMT) for acute or chronic myelogenous leukaemia are reported. After a conditioning regimen consisting of cyclophosphamide and fractionated total body irradiation (TBI) given in five or six fractions of 2 Gy, persistence of host cells was detected in four out of seven cases with permanent engraftment. While one of these patients relapsed 4 months after host cells had been found in BM and PB, the other patients stayed relapse-free 124, 257 and 347 d after grafting. Before transplantation, the leukaemic cells in all three cases carried unique cytogenetic abnormalities giving the opportunity to distinguish the leukaemic population from chromosomally non-aberrant cells thought to represent residual normal host cells. As the persisting host cells after BMT lacked any cytogenetic abnormalities, it is suggested that they were members of residual normal clones not involved in the leukaemic process.

Cytogenetic studies on recipients of allogeneic bone marrow transplants after fractionated total body irradiation

International Nuclear Information System (INIS)

Schmitz, N.; Goedde-Salz, E.; Loeffler, H.

1985-01-01

Cytogenetic findings from the bone marrow (BM) and the peripheral blood (PB) of nine consecutive patients after allogeneic bone marrow transplantation (BMT) for acute or chronic myelogenous leukaemia are reported. After a conditioning regimen consisting of cyclophosphamide and fractionated total body irradiation (TBI) given in five or six fractions of 2 Gy, persistence of host cells was detected in four out of seven cases with permanent engraftment. While one of these patients relapsed 4 months after host cells had been found in BM and PB, the other patients stayed relapse-free 124, 257 and 347 d after grafting. Before transplantation, the leukaemic cells in all three cases carried unique cytogenetic abnormalities giving the opportunity to distinguish the leukaemic population from chromosomally non-aberrant cells thought to represent residual normal host cells. As the persisting host cells after BMT lacked any cytogenetic abnormalities, it is suggested that they were members of residual normal clones not involved in the leukaemic process. (author)

Molecular cytogenetic analysis of human blastocysts andcytotrophoblasts by multi-color FISH and Spectra Imaging analyses

Energy Technology Data Exchange (ETDEWEB)

Weier, Jingly F.; Ferlatte, Christy; Baumgartner, Adolf; Jung,Christine J.; Nguyen, Ha-Nam; Chu, Lisa W.; Pedersen, Roger A.; Fisher,Susan J.; Weier, Heinz-Ulrich G.

2006-02-08

Numerical chromosome aberrations in gametes typically lead to failed fertilization, spontaneous abortion or a chromosomally abnormal fetus. By means of preimplantation genetic diagnosis (PGD), we now can screen human embryos in vitro for aneuploidy before transferring the embryos to the uterus. PGD allows us to select unaffected embryos for transfer and increases the implantation rate in in vitro fertilization programs. Molecular cytogenetic analyses using multi-color fluorescence in situ hybridization (FISH) of blastomeres have become the major tool for preimplantation genetic screening of aneuploidy. However, current FISH technology can test for only a small number of chromosome abnormalities and hitherto failed to increase the pregnancy rates as expected. We are in the process of developing technologies to score all 24 chromosomes in single cells within a 3 day time limit, which we believe is vital to the clinical setting. Also, human placental cytotrophoblasts (CTBs) at the fetal-maternal interface acquire aneuploidies as they differentiate to an invasive phenotype. About 20-50% of invasive CTB cells from uncomplicated pregnancies were found aneuploidy, suggesting that the acquisition of aneuploidy is an important component of normal placentation, perhaps limiting the proliferative and invasive potential of CTBs. Since most invasive CTBs are interphase cells and possess extreme heterogeneity, we applied multi-color FISH and repeated hybridizations to investigate individual CTBs. In summary, this study demonstrates the strength of Spectral Imaging analysis and repeated hybridizations, which provides a basis for full karyotype analysis of single interphase cells.

The results of selective cytogenetic monitoring of Chernobyl accident victims in the Ukraine

International Nuclear Information System (INIS)

Pilinskaya, M.A.

1996-01-01

Selective cytogenetic monitoring of the highest priority groups of Chernobyl disaster victims has been carried out since 1987. In 1992-1993, 125 liquidators (irradiated mainly in 1986) and 42 persons recovering from acute radiation sickness of the second and third degrees of severity were examined. Cytogenetic effects (an elevated level of unstable as well as stable markers of radiation exposure) were found in all groups, which showed a positive correlation with the initial degree of irradiation severity even 6-7 y after the accident. Comparative scoring of conventional staining vs. G-banding in 10 liquidators showed the identical rate of unstable aberrations. At the same time, the yield of stable aberrations for G-banded slides exceeded the frequency for conventional staining. In order to study possible mutagenic activity of chronic low levels of irradiation, the cytogenetic monitoring of some critical groups of the population (especially children and occupational groups-tractor drivers and foresters) living in areas of the Ukraine contaminated by radionuclides was carried out. In all the examined groups, a significant increase in the frequency of aberrant metaphases, chromosome aberrations (both unstable and stable), an chromatid aberrations was observed. Data gathered from groups of children reflect the intensity of mutagenic impact on the studied populations and demonstrate a positive correlation with the duration of exposure. Results of cytogenetic examination of adults confirmed the importance of considering the contribution of occupational radiation exposure to genetic effects of Chernobyl accident factors on the population of contaminated areas. 17 refs., 3 tabs

Further improvement of genetic and cytogenetic test pattern with increased relevance predicting carcinogenic and pharmacological effects

Energy Technology Data Exchange (ETDEWEB)

Siebert, D.

1982-08-01

Testing of chemicals for their genetic activity by applying only one method has the disadvantage, that the results are of limited value. However, a combination of several test systems in such a manner that the apparent difference between the results allows additional conclusions about the pharmacokinetic properties of the substances tested, the correlation between molecular mutations and cytogenetic effects and the possible carcinogenic activity. Three nitrofuran derivatives (nitrofurantoin, carofur and FANFT) tested in six different in vitro and in vivo mutagenicity tests partly showed strong genetic activity without metabolic activation and weak cytogenetic effects. However, polycyclic hydrocarbons needed mammalian metabolism to display their mutagenicity: Dimethylbenzoanthracene and benzo(a)pyrene could be activated by liver microsomes and showed also cytogenetic effects, but phenanthrene was only active in the SCE-test. Out of nine heavy metal salts potassium chromate, potassium dichromate, calcium chromate and cis-dichloro diammine-Pt(II) were effective in at least one genetic and one cytogenetic test. The correlation between mutagenic and the known carcinogenic activity of all test substances was good in the case of the hydrocarbons and the nitrofuran derivatives; the heavy metal salts, however, are of low relevance for the carcinogenicity of the metals itself.

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

Directory of Open Access Journals (Sweden)

Carlos A. Venegas-Vega

2013-01-01

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

Cytogenetic studies of three triazine herbicides. I. In vitro studies

Science.gov (United States)

Atrazine, simazine, and cyanazine are widely used pre-emergence and post-emergence triazine herbicides that have made their way into the potable water supply of many agricultural communities. Because of this and the prevalence of contradictory cytogenetic studies in the literatur...

Some problems and errors in cytogenetic biodosimetry

International Nuclear Information System (INIS)

Mosse, Irma; Kilchevsky, Alexander; Nikolova, Nevena; Zhelev, Nikolai

2017-01-01

Human radiosensitivity is a quantitative trait that is generally subject to binomial distribution. Individual radiosensitivity, however, may deviate significantly from the mean (by 2–3 standard deviations). Thus, the same dose of radiation may result in different levels of genotoxic damage (commonly measured as chromosome aberration rates) in different individuals. There is significant genetic component in individual radiosensitivity. It is related to carrier ship of variant alleles of various single-nucleotide polymorphisms (most of these in genes coding for proteins functioning in DNA damage identification and repair); carrier ship of a different number of alleles producing cumulative effects; amplification of gene copies coding for proteins responsible for radioresistance, mobile genetic elements and others. Among the other factors influencing individual radioresistance are: the radio adaptive response; the bystander effect; the levels of endogenous substances with radioprotective and antimutagenic properties and environmental factors such as lifestyle and diet, physical activity, psycho emotional state, hormonal state, certain drugs, infections and others. These factors may have radioprotective or sensitizing effects. Apparently, there are too many factors that may significantly modulate the biological effects of ionizing radiation. Thus, conventional methodologies for biodosimetry (specifically, cytogenetic methods) may produce significant errors if personal traits that may affect radioresistance are not accounted for

On the mechanism of cytogenetic effect of electromagnetic radiation: role of oxidation homeostasis

International Nuclear Information System (INIS)

Brezitskaya, N.V.; Timchenko, O.I.

2000-01-01

The evaluation of the role of changes in oxidation homeostasis in developing the cytogenetic effects arising by the electromagnetic irradiation impact is carried out. The experiments were performed on white male rats. The animals were subjected to impact of the nonionizing radiations in the microwave range during 40 days by 7 hours a day. It is established that changes in the free-radical oxidation by the impact of nonionizing radiation of the electromagnetic fields have a wave-like character. It is established that changes in the oxidation homeostasis proceed the development of cytogenetic effects and may be the cause thereof [ru

CYTOGENETIC STUDY OF FOUR SPECIES OF LAND SNAILS OF ...

African Journals Online (AJOL)

The chromosomal study of the four species of achatinid snails was carried out with the aim of determining their chromosome numbers as part of a preliminary attempt to understand the cytogenetics of land snails of Nigeria. The haploid chromosomes of various species of snails studied were obtained from their ovotestis ...

Recent experience in applying the cytogenetic dosimetry assay

Energy Technology Data Exchange (ETDEWEB)

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

2011-09-15

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

Secondary myeloid neoplasms: bone marrow cytogenetic and histological features may be relevant to prognosis

Directory of Open Access Journals (Sweden)

Roberta Sandra da Silva Tanizawa

Full Text Available Abstract Background: Secondary myeloid neoplasms comprise a group of diseases arising after chemotherapy, radiation, immunosuppressive therapy or from aplastic anemia. Few studies have addressed prognostic factors in these neoplasms. Method: Forty-two patients diagnosed from 1987 to 2008 with secondary myeloid neoplasms were retrospectively evaluated concerning clinical, biochemical, peripheral blood, bone marrow aspirate, biopsy, and immunohistochemistry and cytogenetic features at diagnosis as prognostic factors. The International Prognostic Scoring System was applied. Statistical analysis employed the Kaplan–Meier method, log-rank and Fisher's exact test. Results: Twenty-three patients (54.8% were male and the median age was 53.5 years (range: 4–88 years at diagnosis of secondary myeloid neoplasms. Previous diseases included hematologic malignancies, solid tumors, aplastic anemia, autoimmune diseases and conditions requiring solid organ transplantations. One third of patients (33% were submitted to chemotherapy alone, 2% to radiotherapy, 26% to both modalities and 28% to immunosuppressive agents. Five patients (11.9% had undergone autologous hematopoietic stem cell transplantation. The median latency between the primary disease and secondary myeloid neoplasms was 85 months (range: 23–221 months. Eight patients were submitted to allogeneic hematopoietic stem cell transplantation to treat secondary myeloid neoplasms. Important changes in bone marrow were detected mainly by biopsy, immunohistochemistry and cytogenetics. The presence of clusters of CD117+ cells and p53+ cells were associated with low survival. p53 was associated to a higher risk according to the International Prognostic Scoring System. High prevalence of clonal abnormalities (84.3% and thrombocytopenia (78.6% were independent factors for poor survival. Conclusion: This study demonstrated that cytogenetics, bone marrow biopsy and immunohistochemistry are very important

Chromosome 2 short arm translocations revealed by M-FISH analysis of neuroblastoma cell lines.

Science.gov (United States)

Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Laureys, G; De Paepe, A; Speleman, F

2000-12-01

M-FISH analysis was performed on 18 neuroblastoma cell lines, which were previously studied with cytogenetic, standard FISH and CGH data. One of the most striking findings of this study was the detection of chromosome 2 short arm rearrangements in 61% of the investigated cell lines. These rearrangements resulted from translocations with various partner chromosomes. All translocations, except one were unbalanced, leading to the consistent gain of chromosome segment 2pter-p22. A cryptic balanced translocation t(2;4) was observed with a breakpoint located in the vicinity of MYCN in cell line NBL-S. Combination of M-FISH results together with cytogenetic, standard FISH and CGH data yielded the most comprehensive description of chromosome 2 short arm rearrangements, leading to a consistent gain of chromosome 2 short arm material. Copyright 2000 Wiley-Liss, Inc.

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

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

DEFF Research Database (Denmark)

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

2007-01-01

Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype...... generations and included interstitial deletions of 1p31.3-p32.1, 2q13, 10q11.21-q11.23, and 13q31.1; a duplication of 1p34.1-p34.2; and in one family both a deletion of 18q21.1 and a duplication of 4q35.1-q35.2. The probands were mentally retarded and had nonspecific dysmorphic features except for one patient...

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

Carfilzomib significantly improves the progression-free survival of high-risk patients in multiple myeloma.

Science.gov (United States)

Avet-Loiseau, Hervé; Fonseca, Rafael; Siegel, David; Dimopoulos, Meletios A; Špička, Ivan; Masszi, Tamás; Hájek, Roman; Rosiñol, Laura; Goranova-Marinova, Vesselina; Mihaylov, Georgi; Maisnar, Vladimír; Mateos, Maria-Victoria; Wang, Michael; Niesvizky, Ruben; Oriol, Albert; Jakubowiak, Andrzej; Minarik, Jiri; Palumbo, Antonio; Bensinger, William; Kukreti, Vishal; Ben-Yehuda, Dina; Stewart, A Keith; Obreja, Mihaela; Moreau, Philippe

2016-09-01

The presence of certain high-risk cytogenetic abnormalities, such as translocations (4;14) and (14;16) and deletion (17p), are known to have a negative impact on survival in multiple myeloma (MM). The phase 3 study ASPIRE (N = 792) demonstrated that progression-free survival (PFS) was significantly improved with carfilzomib, lenalidomide, and dexamethasone (KRd), compared with lenalidomide and dexamethasone (Rd) in relapsed MM. This preplanned subgroup analysis of ASPIRE was conducted to evaluate KRd vs Rd by baseline cytogenetics according to fluorescence in situ hybridization. Of 417 patients with known cytogenetic risk status, 100 patients (24%) were categorized with high-risk cytogenetics (KRd, n = 48; Rd, n = 52) and 317 (76%) were categorized with standard-risk cytogenetics (KRd, n = 147; Rd, n = 170). For patients with high-risk cytogenetics, treatment with KRd resulted in a median PFS of 23.1 months, a 9-month improvement relative to treatment with Rd. For patients with standard-risk cytogenetics, treatment with KRd led to a 10-month improvement in median PFS vs Rd. The overall response rates for KRd vs Rd were 79.2% vs 59.6% (high-risk cytogenetics) and 91.2% vs 73.5% (standard-risk cytogenetics); approximately fivefold as many patients with high- or standard-risk cytogenetics achieved a complete response or better with KRd vs Rd (29.2% vs 5.8% and 38.1% vs 6.5%, respectively). KRd improved but did not abrogate the poor prognosis associated with high-risk cytogenetics. This regimen had a favorable benefit-risk profile in patients with relapsed MM, irrespective of cytogenetic risk status, and should be considered a standard of care in these patients. This trial was registered at www.clinicaltrials.gov as #NCT01080391. © 2016 by The American Society of Hematology.

Using cytogenetic analysis RAPD in determination of genetic variations among four species of ornamental fishes of family: Poecilidae (Order: Cyprinodontiform

Directory of Open Access Journals (Sweden)

Abu-Almaaty A.H.

2015-01-01

Full Text Available The karyological and molecular analysis of four fresh water fish species of Family: Poecilidae and their genetic relationships have been studied. Xiphophorus maculates and Xiphophorus hellerii have the same diploid chromosome number 2n=48, but they were different in their karyotypes. Poecilia sphenops and Poecilia reticulata have the same diploid chromosome number 2n=46 and the same fundamental number FN=46, also the same karyotype one group of acrocentric chromosomes. Nine RAPD primers, showed monomorphic bands, were used for the construction of the dendrogram and a similarity matrix. A total of 65 bands were obtained; 39 of them were monomorphic bands. Similarity values among the studied samples ranged from 21% to 38%. High similarity value was obtained between Xiphophorus maculates and Xiphophorus hellerii. (38% and the low similarity values were obtained between Xiphophorus hellerii and Poecilia reticulata (21%. The cluster analysis clearly differentiated Xiphophorus maculates and Xiphophorus hellerii from Poecilia sphenops and Poecilia reticulata. RAPD analysis confirmed that the four species under study are genetically different from each other. These cytogenetic data obtained can be applied for further studies in cytotaxonomy and evolutionary relationships of fishes.

An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome

Science.gov (United States)

Harrison, CJ; Moorman, AV; Schwab, C; Carroll, AJ; Raetz, EA; Devidas, M; Strehl, S; Nebral, K; Harbott, J; Teigler-Schlegel, A; Zimmerman, M; Dastuge, N; Baruchel, A; Soulier, J; Auclerc, M-F; Attarbaschi, A; Mann, G; Stark, B; Cazzaniga, G; Chilton, L; Vandenberghe, P; Forestier, E; Haltrich, I; Raimondi, SC; Parihar, M; Bourquin, J-P; Tchinda, J; Haferlach, C; Vora, A; Hunger, SP; Heerema, NA; Haas, OA

2014-01-01

Intrachromosomal amplification of chromosome 21 (iAMP21) defines a distinct cytogenetic subgroup of childhood B-cell precursor acute lymphoblastic leukaemia (BCP-ALL). To date, fluorescence in situ hybridisation (FISH), with probes specific for the RUNX1 gene, provides the only reliable detection method (five or more RUNX1 signals per cell). Patients with iAMP21 are older (median age 9 years) with a low white cell count. Previously, we demonstrated a high relapse risk when these patients were treated as standard risk. Recent studies have shown improved outcome on intensive therapy. In view of these treatment implications, accurate identification is essential. Here we have studied the cytogenetics and outcome of 530 iAMP21 patients that highlighted the association of specific secondary chromosomal and genetic changes with iAMP21 to assist in diagnosis, including the gain of chromosome X, loss or deletion of chromosome 7, ETV6 and RB1 deletions. These iAMP21 patients when treated as high risk showed the same improved outcome as those in trial-based studies regardless of the backbone chemotherapy regimen given. This study reinforces the importance of intensified treatment to reduce the risk of relapse in iAMP21 patients. This now well-defined patient subgroup should be recognised by World Health Organisation (WHO) as a distinct entity of BCP-ALL. PMID:24166298

Single nucleotide polymorphism array karyotyping: a diagnostic and prognostic tool in myelodysplastic syndromes with unsuccessful conventional cytogenetic testing.

Science.gov (United States)

Arenillas, Leonor; Mallo, Mar; Ramos, Fernando; Guinta, Kathryn; Barragán, Eva; Lumbreras, Eva; Larráyoz, María-José; De Paz, Raquel; Tormo, Mar; Abáigar, María; Pedro, Carme; Cervera, José; Such, Esperanza; José Calasanz, María; Díez-Campelo, María; Sanz, Guillermo F; Hernández, Jesús María; Luño, Elisa; Saumell, Sílvia; Maciejewski, Jaroslaw; Florensa, Lourdes; Solé, Francesc

2013-12-01

Cytogenetic aberrations identified by metaphase cytogenetics (MC) have diagnostic, prognostic, and therapeutic implications in myelodysplastic syndromes (MDS). However, in some MDS patients MC study is unsuccesful. Single nucleotide polymorphism array (SNP-A) based karyotyping could be helpful in these cases. We performed SNP-A in 62 samples from bone marrow or peripheral blood of primary MDS with an unsuccessful MC study. SNP-A analysis enabled the detection of aberrations in 31 (50%) patients. We used the copy number alteration information to apply the International Prognostic Scoring System (IPSS) and we observed differences in survival between the low/intermediate-1 and intermediate-2/high risk patients. We also saw differences in survival between very low/low/intermediate and the high/very high patients when we applied the revised IPSS (IPSS-R). In conclusion, SNP-A can be used successfully in PB samples and the identification of CNA by SNP-A improve the diagnostic and prognostic evaluation of this group of MDS patients. Copyright © 2013 Wiley Periodicals, Inc.

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....

Plant centromeric retrotransposons: a structural and cytogenetic perspective

Czech Academy of Sciences Publication Activity Database

Neumann, Pavel; Navrátilová, Alice; Koblížková, Andrea; Kejnovský, Eduard; Hřibová, Eva; Hobza, Roman; Widmer, A.; Doležel, Jaroslav; Macas, Jiří

2011-01-01

Roč. 2, č. 4 (2011), s. 1-16 ISSN 1759-8753 R&D Projects: GA AV ČR KJB500960802; GA MŠk(CZ) LC06004; GA ČR GA522/09/0083 Institutional research plan: CEZ:AV0Z50510513; CEZ:AV0Z50040507; CEZ:AV0Z50040702; CEZ:AV0Z50380511 Keywords : plant chromosomes * retrotransposons * cytogenetic perspective Subject RIV: EB - Genetics ; Molecular Biology

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...

Molecular cytogenetic analysis of monoecious hemp (Cannabis sativa L.) cultivars reveals its karyotype variations and sex chromosomes constitution.

Science.gov (United States)

Razumova, Olga V; Alexandrov, Oleg S; Divashuk, Mikhail G; Sukhorada, Tatiana I; Karlov, Gennady I

2016-05-01

Hemp (Cannabis sativa L., 2n = 20) is a dioecious plant. Sex expression is controlled by an X-to-autosome balance system consisting of the heteromorphic sex chromosomes XY for males and XX for females. Genetically monoecious hemp offers several agronomic advantages compared to the dioecious cultivars that are widely used in hemp cultivation. The male or female origin of monoecious maternal plants is unknown. Additionally, the sex chromosome composition of monoecious hemp forms remains unknown. In this study, we examine the sex chromosome makeup in monoecious hemp using a cytogenetic approach. Eight monoecious and two dioecious cultivars were used. The DNA of 210 monoecious plants was used for PCR analysis with the male-associated markers MADC2 and SCAR323. All monoecious plants showed female amplification patterns. Fluorescence in situ hybridization (FISH) with the subtelomeric CS-1 probe to chromosomes plates and karyotyping revealed a lack of Y chromosome and presence of XX sex chromosomes in monoecious cultivars with the chromosome number 2n = 20. There was a high level of intra- and intercultivar karyotype variation detected. The results of this study can be used for further analysis of the genetic basis of sex expression in plants.

Conventional and Molecular Cytogenetic Analyses in Turkish Patients with Multiple Myeloma

Directory of Open Access Journals (Sweden)

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.

Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005.

Science.gov (United States)

Jackson, Jodi M; Crider, Krista S; Rasmussen, Sonja A; Cragan, Janet D; Olney, Richard S

2012-01-01

The purpose of this study was to examine changes in the use of cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects. Utilizing data from 1968 to 2005 from the Metropolitan Atlanta Congenital Defects Program, we analyzed trends in the frequency and timing (prenatal or postnatal) of cytogenetic testing and the prevalence of recognized chromosome abnormalities among pregnancies and children with birth defects (n = 51,424). Cytogenetic testing of pregnancies and children with birth defects increased from 7.2% in 1968 to 25.0% in 2005, as did the identification of chromosomal abnormalities (2.2% in 1968 to 6.8% in 2005). The use of prenatal cytogenetic testing decreased from 1996 to 2005 among women aged ≥35 years. Identification of chromosomal abnormalities in pregnancies and children with birth defects increased from 1968 to 2005, possibly due to increased testing, improved diagnostic techniques, or increasing maternal age. The decline in prenatal cytogenetic testing observed among mothers aged ≥35 years may be related to the availability of improved prenatal screening techniques, resulting in a reduction in the utilization of invasive diagnostic tests. Published 2011 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

Comparative cytogenetic studies of Curimatidae (Pisces, Characiformes) from the middle Paraná River (Argentina).

Science.gov (United States)

Brassesco, M S; Pastori, M C; Roncati, H A; Fenocchio, A S

2004-06-30

Almost all species of the Curimatidae family have a stable karyotype, with a diploid number of 54 metacentric (M) and submetacentric (SM) chromosomes, and one sole nucleolus organizer pair. This family has considerable specific diversity in Argentinean fluvial basins; however, no cytogenetic data are available. Eight species from the Paraná River (Argentina): Cyphocharax voga, C. spilotus, C. platanus, Steindachnerina brevipinna, S. conspersa, Curimatella dorsalis, Psectrogaster curviventris, and Potamorhina squamoralevis were analyzed cytogenetically. Chromosome preparations were obtained from direct samples and through cell culture, and they were processed for conventional, C- and nucleolar organizer region-banding. Six of the species exhibited the standard family karyotype, with 2n = 54 M-SM and fundamental number of chromosomes (FN) = 108, as well as variations in the chromosome formula, and in heterochromatic and nucleolar organizer regions. Though nucleolar organizer regions were located on only one chromosome pair, they varied in both carrier chromosomes and pairs involved. On the other hand, C. platanus showed a complement of 2n = 58 M-SM and subtelocentric with FN = 116, and P. squamoralevis presented 2n = 102, with some M-SM and a large number of acrocentric chromosomes. Even though the karyotype macrostructure appears to be conserved, the speciation process within the family has been accompanied by micro-structural rearrangements, as evidenced by pattern diversity in the heterochromatin and nucleolar organizer regions. Some changes in chromosome macrostructure have also occurred in this group, primarily in C. platanus and P. squamoralevis, in which there have been centric dissociations and inversions.

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, ...

Cytogenetic studies of the blood (M111), part A

Science.gov (United States)

Lockhart, L. H.

1973-01-01

The cytogenetic study of the crew appears to indicate that Skylab-type environmental conditions have no deleterious effect upon chromosomal material. The findings are, however, less clear-cut than might be desired, due in large measure to confounding of the experimental design by the administration of isotope injections for the purposes of other experiments and to the lack of control subjects.

Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Spanish Edition)

International Nuclear Information System (INIS)

2014-01-01

Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual’s working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Arabic Edition)

International Nuclear Information System (INIS)

2014-01-01

Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Russian Edition)

International Nuclear Information System (INIS)

2014-01-01

Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (Chinese Edition)

International Nuclear Information System (INIS)

2015-01-01

Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

Cytogenetic Dosimetry: Applications in Preparedness for and Response to Radiation Emergencies (French Edition)

International Nuclear Information System (INIS)

2013-01-01

Cytogenetic dosimetry is recognized as a valuable dose assessment method which fills a gap in dosimetric technology, particularly when there are difficulties in interpreting the data, in cases where there is reason to believe that persons not wearing dosimeters have been exposed to radiation, in cases of claims for compensation for radiation injuries that are not supported by unequivocal dosimetric evidence, or in cases of exposure over an individual's working lifetime. The IAEA has maintained a long standing involvement in biological dosimetry commencing in 1978. This association has been through a sequence of coordinated research programmes (CRPs), the running of regional and national training courses, the sponsorship of individual training fellowships, and the provision of equipment to laboratories in Member States, establishing capabilities in biological dosimetry. From this has arisen the provision to Member States of advice regarding the best focus for research and suggestions for the most suitable techniques for future practice in biological dosimetry. One CRP resulted in the publication in 1986 of a manual, entitled Biological Dosimetry: Chromosomal Aberration Analysis for Dose Assessment (Technical Reports Series No. 260). This was superseded in 2001 by a revised second edition, Technical Reports Series No. 405. This present publication constitutes a third edition, with extensive updating to reflect the considerable advances that have been made in cytogenetic biological dosimetry during the past decade

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.

Cytogenetic abnormalities in a series of 1,029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some undefined single chromosomal abnormalities.

Science.gov (United States)

Pozdnyakova, Olga; Miron, Patricia M; Tang, Guilin; Walter, Otto; Raza, Azra; Woda, Bruce; Wang, Sa A

2008-12-15

Conventional karyotype has an established role in myelodysplastic syndrome (MDS) and is included in the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Although some chromosomal abnormalities have been well characterized, the significance of several miscellaneous, infrequent, single chromosomal abnormalities remains to be defined. In addition, the emerging therapeutic agents may change the natural course of disease in patients with MDS and the cytogenetic impact on risk stratification. Clinicopathologic data were retrieved on 1029 patients who had a diagnosis of primary MDS and had available cytogenetic data (karyotype) on file. Cytogenetic abnormalities were identified in 458 patients (45%) and occurred most frequently in patients who had refractory anemia with excess blasts (62%). Overall, the 3 cytogenetic risk groups defined by the IPSS -- good, intermediate, and poor -- effectively stratified the patients' overall survival (OS) (64 months, 31 months, and 12 months, respectively; P < .001). With the exception of gain of chromosome 8, single cytogenetic abnormalities within the intermediate group were extremely infrequent in the series but demonstrated variable OS ranging from 10 months for patients who had isochromosome (17q) to 69 months for patients who had deletion of 12p [del(12p)], suggesting different prognostic significance. In the poor cytogenetic risk group, patients with isolated del(7q) and derivative (1;7)(q10;p10) had a significantly better median OS than patients who had either loss of chromosome 7 or a complex karyotype (P < .05). The current data generated from a large cohort of patients with primary MDS indicated that some specific cytogenetic abnormalities carry different risk than their IPSS cytogenetic risk-group assignment, especially in the new treatment era. Because of the extreme low frequency, additional combined studies are needed to better categorize some rare single cytogenetic

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

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...... 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...... 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...

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...

[Familial retinoblastoma: cytogenetic study of the tumor].

Science.gov (United States)

Robledo Batanero, M; Manzanal Martínez, A; Ayuso García, C; Benítez Ortiz, J

1990-05-01

We report a case of familiar retinoblastoma, in which both mother and daughter show bilateral retinoblastoma. The cytogenetic study, in both peripheral blood lymphocytes and tumoral tissue did not show alterations on the 13 chromosome, although we found a complex kariotype in tumoral tissue defined by three celular lines. In all of them appears a marker in which the 6 chromosome is involved (der 6). The derivated of 6 chromosome are markers highly characteristic of the retinoblastoma cases, and can be related with the aggressivity of tumor and the appearance of the second tumors.

Kinetics of the absorbed dose formation and the effect of chronic β-irradiation on the cytogenetic characteristics and harvest of barley plants

International Nuclear Information System (INIS)

Zyablitskaya, E.Ya.; Kal'chenko, V.A.; Aleksakhin, R.M.; Zuev, N.D.

1984-01-01

A study was made of the kinetics of the absorbed dose formation, of the cytogenetic effects and the yield of barley plants growing in the experimental fields artificially contaminated with 90 Sr- 90 Y. It was shown that 70% of the dose absorbed during the vegetation period fall on the 1st and the and stages of organogenesis. The dose absorbed was shown to increase the cytogenetic effects. As calculated per 1 Gy the cytogenetic effects had an inverse relation to the dose rate

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.

Impact of cytogenetic abnormalities in adults with Ph-negative B-cell precursor acute lymphoblastic leukemia.

Science.gov (United States)

Lafage-Pochitaloff, Marina; Baranger, Laurence; Hunault, Mathilde; Cuccuini, Wendy; Lefebvre, Christine; Bidet, Audrey; Tigaud, Isabelle; Eclache, Virginie; Delabesse, Eric; Bilhou-Nabéra, Chrystèle; Terré, Christine; Chapiro, Elise; Gachard, Nathalie; Mozziconacci, Marie-Joelle; Ameye, Geneviève; Porter, Sarah; Grardel, Nathalie; Béné, Marie C; Chalandon, Yves; Graux, Carlos; Huguet, Françoise; Lhéritier, Véronique; Ifrah, Norbert; Dombret, Hervé

2017-10-19

Multiple cytogenetic subgroups have been described in adult Philadelphia chromosome (Ph)-negative B-cell precursor (BCP) acute lymphoblastic leukemia (ALL), often comprising small numbers of patients. In this study, we aimed to reassess the prognostic value of cytogenetic abnormalities in a large series of 617 adult patients with Ph-negative BCP-ALL (median age, 38 years), treated in the intensified Group for Research on Adult Acute Lymphoblastic Leukemia (GRAALL)-2003/2005 trials. Combined data from karyotype, DNA index, fluorescence in situ hybridization, and polymerase chain reaction screening for relevant abnormalities were centrally reviewed and were informative in 542 cases (88%), allowing classification in 10 exclusive primary cytogenetic subgroups and in secondary subgroups, including complex and monosomal karyotypes. Prognostic analyses focused on cumulative incidence of failure (including primary refractoriness and relapse), event-free survival, and overall survival. Only 2 subgroups, namely t(4;11)/ KMT2A-AFF1 and 14q32/ IGH translocations, displayed a significantly worse outcome in this context, still observed after adjustment for age and after censoring patients who received allogeneic stem cell transplantation (SCT) in first remission at SCT time. A worse outcome was also observed in patients with low hypodiploidy/near triploidy, but this was likely related to their higher age and worse tolerance to therapy. The other cytogenetic abnormalities, including complex and monosomal karyotypes, had no prognostic value in these intensive protocols designed for adult patients up to the age of 60 years. © 2017 by The American Society of Hematology.

Cytogenetic and molecular profile of endometrial stromal sarcoma.

Science.gov (United States)

Micci, Francesca; Gorunova, Ludmila; Agostini, Antonio; Johannessen, Lene E; Brunetti, Marta; Davidson, Ben; Heim, Sverre; Panagopoulos, Ioannis

2016-11-01

Recent cytogenetic and molecular investigations have improved our understanding of endometrial stromal tumors, including sarcomas (ESS), and helped redefine their classification into more pathogenetically meaningful categories. Because much more can be gained through such studies, we add information on another 22 ESS examined by karyotyping, PCR analysis, expression array analysis, and transcriptome sequencing. In spite of the known preference for certain pathogenetic pathways, we found considerable genetic heterogeneity in high-grade (HG) as well as in low-grade (LG) ESS. Not all HG tumors showed a YWHAE-NUTM chimeric transcript and as many as six LGESS showed no hitherto known ESS-related fusions. Among the transcripts identified by transcriptome sequencing and verified by Sanger sequencing, new variants of ZC3H7-BCOR and its reciprocal BCOR-ZC3H7 were identified as was involvement of the CREBBP and MLLT4 genes (both well known leukemia-related genes) in two new fusions. FISH analysis identified a known EPC1-PHF1 fusion which led to the identification of a new variant at the molecular level. The fact that around 70 genes were found differentially expressed, by microarray analysis, when comparing LGESS showing ESS-related fusions with LGESS without such transcripts, underscores the biochemical importance of the observed genetic heterogeneity and hints that new subgroups/entities in LGESS still remain undiscovered. © 2016 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc. © 2016 The Authors. Genes, Chromosomes & Cancer Published by Wiley Periodicals, Inc.

Do polymorphisms in MDR1 and CYP3A5 genes influence the risk of cytogenetic relapse in patients with chronic myeloid leukemia on imatinib therapy?

Science.gov (United States)

Harivenkatesh, Natarajan; Kumar, Lalit; Bakhshi, Sameer; Sharma, Atul; Kabra, Madhulika; Velpandian, Thirumurthy; Gogia, Ajay; Shastri, Shivaram S; Gupta, Yogendra Kumar

2017-09-01

Influence of polymorphisms in the genes coding for imatinib transporters and metabolizing enzymes on cytogenetic relapse in patients with chronic myeloid leukemia (CML) is not known. One hundred and four patients (52 cases with cytogenetic relapse and 52 controls without relapse) with chronic-phase CML on imatinib therapy and have completed 5 years of follow-up were enrolled. The following single nucleotide polymorphisms (SNPs) were genotyped; C1236T, C3435T, G2677T/A in MDR1 gene and A6986G in CYP3A5 gene, using PCR-RFLP method and validated by direct gene sequencing. Imatinib trough levels were measured using LC-MS/MS. Patients with CC genotype for MDR1-C1236T polymorphism were at significantly higher risk for cytogenetic relapse [OR =4.382, 95% CI (1.145, 16.774), p = .022], while those with TT genotype for MDR1-C3435T polymorphism had significantly lower risk of relapse [OR =0.309, 95% CI (0.134, 0.708), p = .005]. Imatinib trough levels were lower in patients with relapse compared to those without relapse (1551.4 ± 1324.1 vs. 2154.2 ± 1358.3 ng/mL; p = .041). MDR1-C3435T genotype [adjusted-OR: 0.266; 95% CI (0.111, 0.636); p = .003] and trough levels (p = .014) were independent predictors of relapse in multivariate analysis. To conclude, C1236T and C3435T polymorphisms in MDR1 gene and trough levels significantly influence the risk of cytogenetic relapse. MDR1-C3435T genotype might emerge as a potential biomarker to predict the risk of cytogenetic relapse in patients with CML.

Cytogenetic risks and possible adverse health effects by narcotic substances dependent.

Science.gov (United States)

Movafagh, Abolfazl; Haeri, Ali; Kolahi, Ali Asghar; Hassani-Moghadam, Hossein

2012-09-01

Illicit drug abuse has crossed social, economic, and geographical borders, and remains one of the major health problems that modern society is facing worldwide. The role of multiple drug abuse as a basic for chromosome damage has been overlooked and it is important to determine its possible adverse health effects. This study aimed to compare the frequency of chromosomal damages between drug addicts and free drug controls. Cytogenetic study was obtained from 146 illicit drug-users and 200 free drug controls. Subjects were grouped into three categories depending on main drug of dependence. Cytogenetic studies on cultured lymphocytes showed an increase the frequency of chromosomal damages among addicts including opiate (5.89%), heroin (7.65%), and crystal (4.9%) when compared with drug free controls (1.45%). The frequency of chromosomal abnormalities was breaks, gaps, marker, and acentric, respectively. Our findings are also important as they are among the first to suggest here, illicit drug addiction continue to be significant public health problems in Iran.

Molecular cytogenetic identification of a novel dwarf wheat line with ...

Indian Academy of Sciences (India)

2012-01-08

Jan 8, 2012 ... of a pAs1 hybridization band on 2DL chromosome of 31505-1. Two SSR ... [Chen G, Zheng Q, Bao Y, Liu S, Wang H and Li X 2012 Molecular cytogenetic identification of a novel dwarf wheat line with ..... translocations (Fedak and Han 2005; Li et al. ... growth (Cambridge, UK: Cambridge University Press).

Revisiting cytogenetic paradigms armed with new tools

International Nuclear Information System (INIS)

Cornforth, M.N.

2003-01-01

It could be argued that most of the fundamental tenets of radiation biology were either discovered, or subsequently confirmed, by observing eukaryotic chromosomes under the microscope. These include, but are certainly not limited to, dose-response relationships with respect to intensity (dose rate/dose fractionation) and radiation quality (LET/track structure). Chromosome aberrations are exquisitely sensitive indicators of radiation damage, and provide quantitative information of biological effect on a cell-by-cell-basis. As such, they have long been a favored endpoint for theoreticians, thereby figuring prominently in the development of generalized models of radiation action. Most of these seminal contributions to radiation biology occurred over a period of time when cytogenetic techniques were, of course, less refined than today. Considering the increasing rate at which technological advances have been made available to the researcher over the past few years, a reexamination of some of the radiological principles that cytogenetics helped to found seems in order. As an example of such effort, this talk will center around improvements to the use of whole chromosome painting by FISH- principally combinatorial painting techniques like mFISH and SKY- for the purposes of examining in greater detail structural aberrations to chromosomes produced following exposure to ionizing radiations of differing quality and intensity. This and related approaches by various laboratories around the world have turned up a few surprise discoveries that do not always fit established paradigms, and which serve to sharpen arguments that have been used to buttress existing models of aberration formation

Molecular and cytogenetic characterization of radon-induced lung tumors in the rat

International Nuclear Information System (INIS)

Dano, Laurent

2000-01-01

Radon is a natural radioactive gas. This radioelement, which is an α-particle emitter, is omnipresent in the environment. Inhalation of atmospheric radon is the major exposure route in man of natural radioactivity which results in respiratory tract contamination. An increased lung cancer risk associated with radon inhalation has been shown both in humans and animals by epidemiological and experimental studies, respectively. In rats, characterization of dose-effect relationships has led to the construction of statistical models that may help theoretically in the prediction of human health involvements of both occupational and domestic chronic exposure to radon. However, little is known about the cellular and molecular mechanisms of radon-induced lung carcinogenesis. In the laboratory, a model of lung cancers induced in rats after radon inhalation is available. This model represents a good tool to identify and characterize the genetic events contributing to the development of radon-induced lung tumors. Carrying out a global approach based on the combined use of classical and molecular cytogenetic methods, the analysis of 17 neoplasms allowed the identification of chromosomal regions frequently altered in these tumors. Numerous similarities have been found between our results and the cytogenetic data for human lung cancers, suggesting common underlying genetic molecular mechanisms for lung cancer development in both species. Moreover, our study has allowed to point to tumor suppressor genes and proto-oncogenes potentially involved in radon-induced lung carcinogenesis. Thus, our results may aid further molecular studies aimed either at confirming the role of these candidate genes or at demonstrating the involvement of yet to be identified genes. (author) [fr

Clinical, cytogenetic and toxicological studies in rural workers exposed to pesticides in Botucatu, São Paulo, Brazil

Directory of Open Access Journals (Sweden)

Salete Marcia Bréga

1998-01-01

Full Text Available Pesticides can cause gene mutations and chromosomal aberrations in exposed individuals. We have investigated 24 workers exposed to pesticides. Clinical examinations and cytogenetic and toxicological tests were performed. Ten non-exposed individuals were used as controls. Toxicological dosages of copper, zinc and manganese (metals found in some pesticides, hepatic enzyme dosage (GOT, GPT, AR and acetylcholinesterase activity were performed in 16 workers and 8 controls. In the exposed workers, the most relevant clinical symptoms were poor digestion with fullness sensation after meals, irritated eyes, headache and fasciculations. The exposed group showed significantly lower manganese dosage and acetylcholinesterase activity, and significantly higher levels of alkaline phosphatase. Cytogenetic studies showed significantly higher chromosomal aberrations in the exposed group compared to the control group. Although the workers used protection against the pesticide's fog, the results revealed that the workers were contaminated with the pesticides. Therefore, the cytogenetic, toxicological studies with clinical examination are necessary for monitoring workers who are exposed to pesticides in any situation.

Cytogenetic studies in dogs after total body irradiation and allogeneic transfusion with cryopreserved blood mononuclear cells: observations in long-term chimeras

International Nuclear Information System (INIS)

Carbonell, F.; Calvo, W.; Fliedner, T.M.; Kratt, E.; Gerhartz, H.; Koerbling, M.; Nothdurft, W.; Ross, W.M.

1984-01-01

Cytogenetic studies were performed on two dog groups after total body irradiation and allogeneic transfusion with cryopreserved blood mononuclear cells. The first group of dogs was transfused with unseparated leukocytes and suffered from graft-versus-host disease (GvHD). Cytogenetic studies demonstrated only cells of donor origin in all dogs of this group. The second group of animals was transfused with fraction 2 of a discontinuous albumin gradient. The dogs of this group did not develop GvHD, and the cytogenetic studies showed the presence of a mosaic of cells from donor and recipient origin in all of them. These results suggest that the GvHD may suppress autochthonous regeneration

Partial clonning cytogenetic and linkage mapping of the porcine resistin (RSTN) gene

Czech Academy of Sciences Publication Activity Database

Čepica, Stanislav; Rohrer, G. A.; Masopust, m.; Kubíčková, S.; Musilová, P.; Rubeš, J.

2002-01-01

Roč. 33, - (2002), s. 381-383 ISSN 0268-9146 R&D Projects: GA ČR GA523/99/0842; GA AV ČR KSK5052113 Keywords : cytogenetic and linkage mapping Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.443, year: 2002

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...

Response to lenalidomide in myelodysplastic syndromes with del(5q): influence of cytogenetics and mutations.

Science.gov (United States)

Mallo, Mar; Del Rey, Mónica; Ibáñez, Mariam; Calasanz, M José; Arenillas, Leonor; Larráyoz, M José; Pedro, Carmen; Jerez, Andrés; Maciejewski, Jaroslaw; Costa, Dolors; Nomdedeu, Meritxell; Diez-Campelo, María; Lumbreras, Eva; González-Martínez, Teresa; Marugán, Isabel; Such, Esperanza; Cervera, José; Cigudosa, Juan C; Alvarez, Sara; Florensa, Lourdes; Hernández, Jesús M; Solé, Francesc

2013-07-01

Lenalidomide is an effective drug in low-risk myelodysplastic syndromes (MDS) with isolated del(5q), although not all patients respond. Studies have suggested a role for TP53 mutations and karyotype complexity in disease progression and outcome. In order to assess the impact of complex karyotypes on treatment response and disease progression in 52 lenalidomide-treated patients with del(5q) MDS, conventional G-banding cytogenetics (CC), single nucleotide polymorphism array (SNP-A), and genomic sequencing methods were used. SNP-A analysis (with control sample, lymphocytes CD3+, in 30 cases) revealed 5q losses in all cases. Other recurrent abnormalities were infrequent and were not associated with lenalidomide responsiveness. Low karyotype complexity (by CC) and a high baseline platelet count (>280 × 10(9) /l) were associated with the achievement of haematological response (P = 0·020, P = 0·013 respectively). Unmutated TP53 status showed a tendency for haematological response (P = 0·061). Complete cytogenetic response was not observed in any of the mutated TP53 cases. By multivariate analysis, the most important predictor for lenalidomide treatment failure was a platelet count <280 × 10(9) /l (Odds Ratio = 6·17, P = 0·040). This study reveals the importance of a low baseline platelet count, karyotypic complexity and TP53 mutational status for response to lenalidomide treatment. It supports the molecular study of TP53 in MDS patients treated with lenalidomide. © 2013 John Wiley & Sons Ltd.

Persistence of Space Radiation Induced Cytogenetic Damage in the Blood Lymphocytes of Astronauts

Science.gov (United States)

George, Kerry

Cytogenetic damage in astronaut's peripheral blood lymphocytes is a useful in vivo marker of space radiation induced damage. Moreover, if radiation induced chromosome translocations persist in peripheral blood lymphocytes for many years, as has been assumed, they could potentially be used to measure retrospective doses or prolonged low dose rate exposures. However, as more data becomes available, evidence suggests that the yield of translocations may decline with time after irradiation, at least for space radiation exposures. We present our latest follow-up measurements of chromosome aberrations in astronauts' blood lymphocytes assessed by FISH painting and collected at various times beginning directly after return from space to several years after flight. For most individuals the analysis of individual time-courses for translocations revealed a temporal decline of yields with different half-lives. Since the level of stable aberrations depends on the interplay between natural loss of circulating T-lymphocytes and replenishment from the stem or progenitor cells, the differences in the rates of decay could be explained by inter-individual variation in lymphocyte turn over. Biodosimetry estimates derived from cytogenetic analysis of samples collected a few days after return to earth lie within the range expected from physical dosimetry. However, a temporal decline in yields may indicate complications with the use of stable aberrations for retrospective dose reconstruction, and the differences in the decay time may reflect individual variability in risk from space radiation exposure. In addition, limited data on multiple flights show a lack of correlation between time in space and translocation yields. Data from one crewmember who has participated in two separate long-duration space missions and has been followed up for over 10 years provide limited information on the effect of repeat flights and show a possible adaptive response to space radiation exposure.

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.

A cytogenetic study of hospital workers occupationally exposed to radionuclides in Serbia. Premature centromere division as novel biomarker of exposure?

Energy Technology Data Exchange (ETDEWEB)

Pajic, Jelena; Rakic, Boban [Serbian Institute of Occupational Health ' ' Dr Dragomir Karajovic' ' , Belgrade (Serbia). Biodosimetry Dept.; Jovicic, Dubravka [Univ. ' ' Singidunum' ' , Belgrade (Serbia). Genotoxicology Dept.; Milovanovic, Aleksandar [Serbian Institute of Occupational Health ' ' Dr Dragomir Karajovic' ' , Belgrade (Serbia). Biodosimetry Dept.; Belgrade Univ. (Serbia). Occupational Health Dept.

2016-04-15

The health risk of chronic exposure to radionuclides includes changes in the genome (e.g., chromosomal aberrations and micronuclei) that increase chromosomal instability. There are also other phenomena, which seem to appear more frequently in metaphases of exposed persons (such as premature centromere division). The aim of this study was to discover whether or not there is correlation between incidence of named cytogenetic changes in persons occupationally exposed to radionuclides in comparison with unexposed control group, and if significant correlation is determined, can premature centromere division be consider as a biomarker of radiation exposure? The exposed group comprised 50 individuals occupationally exposed to radionuclides. The reference control group consisted of 40 unexposed individuals. Chromosomal aberrations, micronuclei and premature centromere division were analyzed according to a standard International Atomic Energy Agency protocol. Statistical analyses were performed using SPSS 17.0 statistics.The means for analyzed cytogenetic changes were significantly higher in the exposed group. Positive correlation between them was found in exposed group. Premature centromere division parameter PCD5-10 was selected as particularly suitable for separating groups (exposed/unexposed). Identification of other phenomena related to radionuclide exposure, beside well known, may clarify recent problems in radiobiology concerning the biological response to low doses of ionizing radiation and its consequences.

A cytogenetic study of hospital workers occupationally exposed to radionuclides in Serbia. Premature centromere division as novel biomarker of exposure?

International Nuclear Information System (INIS)

Pajic, Jelena; Rakic, Boban; Jovicic, Dubravka; Milovanovic, Aleksandar; Belgrade Univ.

2016-01-01

The health risk of chronic exposure to radionuclides includes changes in the genome (e.g., chromosomal aberrations and micronuclei) that increase chromosomal instability. There are also other phenomena, which seem to appear more frequently in metaphases of exposed persons (such as premature centromere division). The aim of this study was to discover whether or not there is correlation between incidence of named cytogenetic changes in persons occupationally exposed to radionuclides in comparison with unexposed control group, and if significant correlation is determined, can premature centromere division be consider as a biomarker of radiation exposure? The exposed group comprised 50 individuals occupationally exposed to radionuclides. The reference control group consisted of 40 unexposed individuals. Chromosomal aberrations, micronuclei and premature centromere division were analyzed according to a standard International Atomic Energy Agency protocol. Statistical analyses were performed using SPSS 17.0 statistics.The means for analyzed cytogenetic changes were significantly higher in the exposed group. Positive correlation between them was found in exposed group. Premature centromere division parameter PCD5-10 was selected as particularly suitable for separating groups (exposed/unexposed). Identification of other phenomena related to radionuclide exposure, beside well known, may clarify recent problems in radiobiology concerning the biological response to low doses of ionizing radiation and its consequences.

Detection of radioiodine-induced cytogenetic alterations in circulating lymphocytes of thyroid patients

Energy Technology Data Exchange (ETDEWEB)

Kasuba, V [Inst. for Medical Recearch and Occupational Health, Zagreb (Croatia). Laboratory for Mutagenesis; Konrady, A; Koeteles, G J [Frederic Joliot-Curie National Research Institute for Radiobiology and Radiohygiene, Budapest (Hungary); Kusic, Z [Clinical Hospital Sestre Milosrdnice, Zagreb (Croatia). Dept. of Oncology and Nuclear Medicine

1994-10-01

Radioiodines are often used for experimental purposes and for diagnosis and therapy in clinical practice. Human population might also be exposed to radioiodines in nuclear accidents. The ionizing energy of radioiodine affects not only the thyroid where it concentrates but also other tissues, especially the lymphocytes during their circulation through and around the gland containing the radioisotopes. Therefore, it seemed to be of interest to carry out investigations concerning the cytogenetic alterations in blood lymphocytes of patients treated with iodine-131. The method of choice was the relatively easily performable micronucleus assay in cytokinesis-blocked cultures of human peripheral lymphocytes. The test was performed on blood samples of 30 patients before the radioisotope treatment and one, two and four days after, one as well as 6 and - in a few cases - 12 weeks later. The amounts of iodine-131 injected were dependent on the clinical practices to reach the therapeutic radiation doses for hyperthyroidism and adenomas and were in the range of 220 and 5180 MBq. it was observed that the micronucleus frequency increased in the treated hyperthyroid patients while in patients with toxic adenomas the radioiodine did not result in an increase or even as compared to the pretreatment values in a few cases decreased values were seen. The results suggest individual differences in radiosensitivity as well as that the frequency of cytogenetic alterations depend on the physiological or pathological conditions of the thyroid. The significance of this observation will be discussed for dose assessments by cytogenetic techniques due to internal radioiodine. (author).

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.

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

Directory of Open Access Journals (Sweden)

Marília de França Rocha

2011-01-01

Full Text Available 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 species. CMA3/DA/DAPI staining revealed CMA3-positive blocks in CH regions in four autosomal bivalents of O. rufipes and in two of E. fusiformis. The location of active NORs differed between the two species, occurring in bivalents M6 and S9 of O. rufipes and M6 and M7 of E. fusiformsi. The rDNA sites revealed by FISH coincided with the number and position of the active NORs detected by AgNO3 staining. The variability in chromosomal markers accounted for the karyotype differentiation observed in the tribe Abracrini.

Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?

Science.gov (United States)

Peterson, Jess F.; Aggarwal, Nidhi; Smith, Clayton A.; Gollin, Susanne M.; Surti, Urvashi; Rajkovic, Aleksandar; Swerdlow, Steven H.; Yatsenko, Svetlana A.

2015-01-01

Purpose To evaluate the clinical utility, diagnostic yield and rationale of integrating microarray analysis in the clinical diagnosis of hematological malignancies in comparison with classical chromosome karyotyping/fluorescence in situ hybridization (FISH). Methods G-banded chromosome analysis, FISH and microarray studies using customized CGH and CGH+SNP designs were performed on 27 samples from patients with hematological malignancies. A comprehensive comparison of the results obtained by three methods was conducted to evaluate benefits and limitations of these techniques for clinical diagnosis. Results Overall, 89.7% of chromosomal abnormalities identified by karyotyping/FISH studies were also detectable by microarray. Among 183 acquired copy number alterations (CNAs) identified by microarray, 94 were additional findings revealed in 14 cases (52%), and at least 30% of CNAs were in genomic regions of diagnostic/prognostic significance. Approximately 30% of novel alterations detected by microarray were >20 Mb in size. Balanced abnormalities were not detected by microarray; however, of the 19 apparently “balanced” rearrangements, 55% (6/11) of recurrent and 13% (1/8) of non-recurrent translocations had alterations at the breakpoints discovered by microarray. Conclusion Microarray technology enables accurate, cost-effective and time-efficient whole-genome analysis at a resolution significantly higher than that of conventional karyotyping and FISH. Array-CGH showed advantage in identification of cryptic imbalances and detection of clonal aberrations in population of non-dividing cancer cells and samples with poor chromosome morphology. The integration of microarray analysis into the cytogenetic diagnosis of hematologic malignancies has the potential to improve patient management by providing clinicians with additional disease specific and potentially clinically actionable genomic alterations. PMID:26299921

Cytogenetic effects of chemotherapy and cranial irradiation on the peripheral blood lymphocytes of children with malignant disease

Energy Technology Data Exchange (ETDEWEB)

Fischer, P; Vetterlein, M; Pohl-Rueling, J; Krepler, P

1977-01-01

Results of a cytogenetic analysis of peripheral blood lymphocytes of children with leukemia after massive chemotherapy and cranial irradiation, and of children with nephrosis after cortisone therapy and cyclophosphamide are presented. Prolonged intensive chemotherapy results in a significant rise in the number of chromatid aberrations after twelve months, and of chromosomal aberrations after 24 months of therapy. After cranial irradiation a sharp rise in chromosome aberrations is present for about three months. This drops after one year to levels present in cases with chemotherapy alone.

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.

Cytogenetics and radiosensitivity for quince tree breeding purpose (Cydonia oblonga Mill.)

International Nuclear Information System (INIS)

Dall'Orto, F.A.C.; Barbosa, W.; Cruz, N.D.; Ferraz, E.S.B.; Menten, J.O.M.; Tulmann Neto, A.; Ando, A.

1984-01-01

Quince cytogenetic aspects were studied to determine the level of ploidy and chromosome number, of Cydonia oblonga Mill. The existence or not of first genetic barriers which would hamper the intercross of the eight studied varieties (Acucar, Champion, Cheldow, Manning, Mato Dentro, Mendoza-INTA 37, Portugal and Smyrna) was done. (M.A.C.) [pt

Cytogenetic monitoring of children from regions with a different radioecological situation

International Nuclear Information System (INIS)

Amvrosiev, A.P.; Nikolaevich, L.N.

1993-01-01

The frequency of chromosome aberrations in blood lymphocytes of children from some districts of Gomel region of Belarus Republic with different radioecological situations has been studied by the cytogenetic examination for the population exposed to additional irradiation due to the Chernobyl disaster. Radiocontamination density in the territory of these settlements made up 20.0-40.0; 17.0; 6.0-9.0 Ci/Km 2 for Cs-137; 1.0-1.7; 2.1; 0.4-1.5 Ci/Km 2 for Sr-90; γ background being 0.130-0.16; 0.106-0.209; 0.90-0.250 mR/h. The results show that aberrant cell frequency in children of the first group is 1.5 times the control one. In a group of children from the settlement strelichevo the average level of aberrant cells is also 1.2 times the control one. In children from Sudkovo aberration frequency of the chromosome type is 1.6 times the control values. The specific for radiation action cytogenetic effect in the children examined increased with the rise in 137 Cs area contamination density

Cytogenetic characterization of two species of Frieseomelitta Ihering, 1912 (Hymenoptera, Apidae, Meliponini

Directory of Open Access Journals (Sweden)

Antônio F. Carvalho

2011-01-01

Full Text Available The cytogenetic analysis of Frieseomelitta dispar and F. francoi revealed the chromosome numbers 2n = 30 and n = 15 and a karyotypic formula 2K = 4M+2Mt+4A+20A M. The number of chromosomes observed was consistent with those reported for other Frieseomelitta species. The occurrence of the Mt chromosome and other features of the karyotype formulae suggest a close relationship between F. dispar, F. francoi and F. varia. Nevertheless, it was possible to differentiate the karyotypes of the species by DAPI/CMA3 staining, which revealed GC-rich regions on two chromosome pairs of F. dispar: one acrocentric and one pseudoacrocentric. In F. francoi, the same kinds of regions were observed on a pair of metacentrics and on a pair of acrocentrics. Our analysis also confirmed the chromosome number conservation in Frieseomelitta and suggests that infrequent pericentric inversion could constitute a synapomorphy for the group including F. dispar, F. francoi, and F. varia.

Study on the cytogenetic activity of freshly irradiated potatoes

International Nuclear Information System (INIS)

Zajtsev, A.N.; Osipova, I.N.

1978-01-01

Cytogenetic activity of potatoes, subjected to gamma irradiation in the dose of 10 Krad, feeding the animals in a day after irradiation, has been investigated. The frequency of chromosomal aberrations in bone marrow cells of mice, who obtained newly irradiated raw or baked potatoes, has no substantial difference from the analogous mutageneity index of mice from the control group. The data obtained are of practical importance when considering the problem of using gamma-irradiated potatoes in the people nourishment

Cytogenetic and morphophysiological differences in snail Lymnaea stagnalis (Gastropoda, Pulmonata) from reservoirs of the Chernobyl NPP resettling zone

International Nuclear Information System (INIS)

Koneva, A.Yu.; Afonin, V.Yu.; Dramashka, S.Ya.; Golubew, A.P.

2006-01-01

A cytogenetic analysis of the molluscs obtained from animals of two populations of the Chernobyl NPP zone was carried out. Preservation of the raised number of cells with micronuclei in hemolymph of the molluscs obtained from animals lived under conditions with the highest level of radiation contamination was noted. Interpopulational distinctions in a number of biological parameters were revealed. Away of fertilization which is used for animal production under laboratory conditions affects sensitivity of molluscs to additional acute irradiation was established. (authors)

Clinical-genealogical and cytogenetic peculiarities of children born to fathers-liquidators of the Chernobyl accident

International Nuclear Information System (INIS)

Korenev, N.M.; Kovaleva, V.I.; Bagatskaya, N.V.

2004-01-01

Clinical-genealogical and cytogenetic peculiarities were studied in children, born to fathers who took part in liquidation the Chernobyl nuclear accident consequences for 1999-2002 at the Institute of Children and Adolescents' Health Care of AMS of Ukraine. Dynamic study (from 3 to 3.5 years) of cytogenetic influence in such children showed a certain decrease in chromosomal disorders incidence (from 1.26% to 0.53%, p<0.001). Together with decrease in the chromosomal aberrations incidence in children, it was established an increase in numerical chromosomal disorders (polyploidy). The rate of polyploidy in the group under investigation was up to 2.01% that exceeded the data of the preliminary examination (0.09%, p<0.001)

Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases.

Science.gov (United States)

An, N; Li, L L; Wang, R X; Li, L L; Yue, J M; Liu, R Z

2015-12-02

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serum-screening test (69.56%), followed by advanced maternal age (15.04%). Chromosomal abnormality was detected in 206 (8.24%) of the 2500 samples. The detection rate of abnormal karyotypes was 62.5% in the group in which one member of the couple was a carrier of a chromosome abnormality; in the group having a positive result from noninvasive prenatal testing, the frequency was 50%. To determine the origin of fetal chromosome abnormal karyotype, 45 fetuses were analyzed. Of these, 20 were found to be de novo abnormalities and 25 were familial. The frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.

Cytogenetic determination of the effect of irradiation on in vitro lymphocyte transformation rates

International Nuclear Information System (INIS)

Lloyd, D.C.; Dolphin, G.W.; Purrott, R.J.

1976-01-01

The effect of x irradiation on the yield of transformed cells in 48-hr cultures has been studied in human peripheral-blood lymphocytes. Cytogenetic damage was used as a marker, aberration yields being obtained for mixed cultures prepared from equal numbers of normal and irradiated lymphocytes and from pure cultures of irradiated cells. Comparison of data from these two types of culture shows that the yield observed ranged from 90 percent of that expected at 50 rads to 11 percent at 700 rads. Poisson analysis demonstrated that for all doses, cells with high levels of structural damage were not selectively eliminated. The extent to which mitotic delay contributes to the reduction in numbers of transformed cells was examined by varying the time in cultures from 36 to 72 hr. The implication of this work in the field of radiation-dose estimation by chromosome-aberration analysis is discussed

Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features

Science.gov (United States)

Schwab, Claire J.; Chilton, Lucy; Morrison, Heather; Jones, Lisa; Al-Shehhi, Halima; Erhorn, Amy; Russell, Lisa J.; Moorman, Anthony V.; Harrison, Christine J.

2013-01-01

In childhood B-cell precursor acute lymphoblastic leukemia, cytogenetics is important in diagnosis and as an indicator of response to therapy, thus playing a key role in risk stratification of patients for treatment. Little is known of the relationship between different cytogenetic subtypes in B-cell precursor acute lymphoblastic leukemia and the recently reported copy number abnormalities affecting significant leukemia associated genes. In a consecutive series of 1427 childhood B-cell precursor acute lymphoblastic leukemia patients, we have determined the incidence and type of copy number abnormalities using multiplex ligation-dependent probe amplification. We have shown strong links between certain deletions and cytogenetic subtypes, including the novel association between RB1 deletions and intrachromosomal amplification of chromosome 21. In this study, we characterized the different copy number abnormalities and show heterogeneity of PAX5 and IKZF1 deletions and the recurrent nature of RB1 deletions. Whole gene losses are often indicative of larger deletions, visible by conventional cytogenetics. An increased number of copy number abnormalities is associated with NCI high risk, specifically deletions of IKZF1 and CDKN2A/B, which occur more frequently among these patients. IKZF1 deletions and rearrangements of CRLF2 among patients with undefined karyotypes may point to the poor risk BCR-ABL1-like group. In conclusion, this study has demonstrated in a large representative cohort of children with B-cell precursor acute lymphoblastic leukemia that the pattern of copy number abnormalities is highly variable according to the primary genetic abnormality. PMID:23508010

[Early monitoring of BCR-ABL transcript levels and cytogenetic in assessing the prognosis of chronic myeloid leukemia].

Science.gov (United States)

Huang, Qin; Zhang, Xiao-yan; Li, Yan; Wang, Xiao-min

2013-10-15

To explore the prognostic significance of early monitoring of BCR-ABL transcript levels and cytogenetic evaluations for chronic myeloid leukemia in chronic phase (CML-CP). From July 2007 to May 2012, 56 CML-CP patients received oral imatinib 400 mg/d. The BCR-ABL transcript levels were monitored and cytogenetic examinations performed after 3 and 6 months respectively. The median follow-up time was 48 months. The 3-month BCR-ABL transcript levels ≤ 10% of patients 5-year overall survival (OS) and progression-free survival (PFS) were better than BCR-ABL transcript levels >10% of patients (OS: 100% vs 84.6%, P = 0.011; PFS: 94.6% vs 67.7%, P = 0.045); cytogenetics: Ph(+) ≤ 35 % of patients 5-year OS and PFS better than Ph(+) > 35% of patients (OS: 100% vs 76.2%, P = 0.001; PFS: 95.2% vs 38.1%, P = 0.001); the 6-month BCR-ABL transcripts level ≤ 1% of patients 5-year OS and PFS also better than BCR-ABL transcript levels> 1% of patients (OS: 100% vs 71.4%, P = 0.000; PFS: 95.2% vs 47.6%, P = 0.001); Ph(+) = 0% and Ph(+)> 0% patients, 5-year OS and PFS were significantly different (OS: 100% vs 68.6%, P = 0.000; PFS: 95.3% vs 45.7%, P = 0.000). Early molecular biology and cytogenetics monitoring have some significance in the prognostic assessment of CML-CP. And individualized treatment strategies should be based upon the monitoring results in conjunctions with comprehensive judgments.

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

the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint...

Cytogenetic analysis of {sup 153} Sm-EDTMP in peripheral lymphocytes from patients with bone cancer metastasis; Analise citogenetica do {sup 153} Sm-EDTMP em linfocitos perifericos de pacientes com cancer osseo matastatico

Energy Technology Data Exchange (ETDEWEB)

Silva, M.A. da; Suzuki, M.F.; Rogero, J.R.; Okazaki, K. [Instituto de Pesquisas Energeticas e Nucleares (IPEN), Sao Paulo, SP (Brazil); Guimaraes, M.I.C.C.; Buchpiguel, C.A. [Sao Paulo Univ., SP (Brazil). Faculdade de Medicina. Centro de Medicina Nuclear

2002-07-01

The {sup 153} Sm-EDTMP is a radiopharmaceutical used in nuclear medicine with promising results for the relief of metastatic pain. Therefore, there are few knowledge about the effects of {sup 153} Sm-EDTMP at cellular level. The present study was conducted with the aim of evaluating the cytogenetic effects of {sup 153} Sm-EDTMP in peripheral lymphocytes from patients with bone metastasis (with and without previous radio and/or chemotherapy) by the chromosome aberration technique. For that, the blood samples were collected before and one hour after the endovenous administrations of {sup 153} Sm-EDTMP (mean activity of 42.53 {+-} 5.31 MBq/kg body weight), taking into account the rapid blood clearance. The principal types of structural chromosome aberrations found gaps and breaks, acentric fragments centric rings, double minutes and dicentrics. The statistical analysis showed that the group submitted to previous radio and chemotherapy before{sup 153} Sm-EDTMP administration showed significant difference in chromosome aberrations frequency one hour after the treatment. The analysis of the chromosome modal number and the kinetics of cellular cycle showed no statistical difference among the groups, suggesting that the treatment with {sup 153} Sm-EDTMP, did not influence these parameters. The obtained data showed that the therapy with {sup 153} Sm-EDTMP induced a few quantity of cytogenetic damages in peripheral lymphocytes one hour after its administration in patients, although, theoretically, a long term stochastic effect cannot be disregarded. (author)

Biomarkers of DNA and cytogenetic damages induced by environmental chemicals or radiation

International Nuclear Information System (INIS)

1999-01-01

This paper presents and discusses results from the studies on various biomarkers of the DNA and cytogenetic damages induced by environmental chemicals or radiation. Results of the biomonitoring studies have shown that particularly in the condition of Poland, health hazard from radiation exposure is overestimated in contradistinction to the environmental hazard

Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide

Directory of Open Access Journals (Sweden)

Sugimoto Yuka

2012-03-01

Full Text Available Abstract Background While lenalidomide (LEN shows high efficacy in myelodysplastic syndromes (MDS with del[5q], responses can be also seen in patients presenting without del[5q]. We hypothesized that improved detection of chromosomal abnormalities with new karyotyping tools may better predict response to LEN. Design and methods We have studied clinical, molecular and cytogenetic features of 42 patients with MDS, myeloproliferative neoplasms (MPN, MDS/MPN overlap syndromes and secondary acute myeloid leukemia (sAML without del[5q] by metaphase cytogenetics (MC who underwent therapy with LEN. Results Fluorescence in situ hybridization (FISH or single nucleotide polymorphism array (SNP-A-based karyotyping marginally increased the diagnostic yield over MC, detecting 2/42 (4.8% additional cases with del[5q], one of whom were responded to LEN. Responses were more often observed in patients with a normal karyotype by MC (60% vs abnormal MC; 17%, p = .08 and those with gain of chromosome 8 material by either of all 3 karyotyping methods (83% vs all other chromosomal abnormalities; 44% p = .11. However, 5 out of those 6 patients received combined LEN/AZA therapy and it may also suggest those with gain of chromosome 8 material respond well to AZA. The addition of FISH or SNP-A did not improve the predictive value of normal cytogenetics by MC. Mutational analysis of TET2, UTX, CBL, EZH2, ASXL1, TP53, RAS, IDH1/2, and DNMT-3A was performed on 21 of 41 patients, and revealed 13 mutations in 11 patients, but did not show any molecular markers of responsiveness to LEN. Conclusions Normal karyotype and gain of chromosome 8 material was predictive of response to LEN in non-del[5q] patients with myeloid malignancies.

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

Evaluation of cytogenetic effects in some occupational groups exposed to mutagenic action due to the Chernobyl accident

International Nuclear Information System (INIS)

Pilinskaya, M.A.; Pilinskij, V.V.

1995-01-01

12 persons, that live on territories contaminated by radionuclides and are exposed to additional irradiation due to their occupational activity, are cytogenetic ally examined. The most serious cytogenetic effect was in the group of tractor-drivers from the Polesskoe region of the Kyiv district (average frequency of unstable chromosome aberrations - 2.51 per 100 cells, stable chromosome aberrations - 1.44 per 100 cells), where the density of 137 Cs-contamination ran up to 26 Ci/km 2 . The received data confirm the importance of contribution of the occupational radiation component to genetic effects in the population of areas contaminated after the Chernobyl accident

Solid tissue culture for cytogenetic analysis: a collaborative survey for the Association of Clinical Cytogeneticists.

Science.gov (United States)

Rodgers, C S; Creasy, M R; Fitchett, M; Maliszewska, C T; Pratt, N R; Waters, J J

1996-01-01

AIMS: To survey the diagnostic service provided by UK laboratories for the culture of solid tissue samples (excluding tumours) and in particular to examine the variation in culture success rates and the problems of maternal cell overgrowth. METHODS: Twenty seven laboratories took part in a collaborative survey during 1992. Each laboratory submitted data on up to a maximum of 60 consecutive specimens (n = 1361) over a six month period. RESULTS: Skin specimens, the largest category received (n = 520), were the most problematic (51% success rate). Culture success rates were significantly lower (43%) when skin specimens (n = 140) were transported dry to the laboratory. Success rates for skin specimens also varied, depending on the origin of the specimen, from 18% for intra-uterine deaths (IUD) (n = 94) to 85% for neonatal deaths (n = 33) and 83% for live patients (n = 54). Culture of selected extra-fetal tissues from IUD, stillbirths and following elective termination of pregnancy (TOP) gave comparable success rates to those achieved for skin samples from neonatal deaths and live births. Skewed sex ratios, female > male, were identified for products of conception (POC) (n = 298) and placental biopsy specimens (n = 97). CONCLUSIONS: By appropriate selection, transport and processing of tissues, and in particular by avoiding relying solely on skin samples from IUD, stillbirths and TOP, an increase in culture success rates for solid tissue samples submitted for cytogenetic analysis could be achieved. The high risk of maternal cell contamination from POC and placental biopsy specimens was also identified in this survey. PMID:8881913

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

Cytogenetic Monitoring By Use Of The Micronucleus Assay Among Nuclear Malaysia Radiation Workers-A Preliminary Result

International Nuclear Information System (INIS)

Rahimah Abdul Rahim; Mohd Rodzi Ali; Noraisyah Mohd Yusof; Juliana Mahamad Napiah; Yahaya Talib; Rehir Dahalan

2014-01-01

Biological dosimetry based on the analysis of micronuclei in the cytokinesis-block micronucleus (CBMN) assay can be used as an alternative method for scoring dicentric chromosomes in the field of radiation protection. Bio dosimetry is mainly performed, in addition to physical dosimetry, with the aim of individual dose assessment. Aim of this study was to assess occupationally induced chromosomal damage in radiation workers exposed to ionizing radiation. The CBMN assay was used in the peripheral blood lymphocytes of 50 exposed workers. Number of bi-nucleated cell and micronuclei were scored and statistical analysis was done to see the effect and correlation of micronuclei with gender, age and time of worked. In conclusion, scoring of micronuclei is a useful cytogenetic monitoring for radiation workers. (author)

Natural background radiation induces cytogenetic radioadaptive response more effectively than occupational exposure in human peripheral blood lymphocytes

International Nuclear Information System (INIS)

Monfared, A.S.; Mozdarani, H.; Amiri, M.

2003-01-01

Ramsar, a city in the northern Iran, has the highest level of natural background radiation in the world. It has been clearly shown that low doses of ionising radiation can induce resistance to subsequent higher exposures. This phenomenon is termed radioadaptive response. We have compared induction of cytogenetic radioadaptive response by High Natural Background Radiation (HNBR) in Ramsar and X-ray occupational exposure as conditioning doses in human peripheral blood lymphocytes. 30 healthy control individuals, living in Ramsar but in normal background radiation areas, 15 healthy individuals from Talesh Mahalleh, a region with extraordinary high level of background radiation, and 7 X-ray radiographers working in Ramsar hospital located in normal natural background ionising radiation area were evaluated. Peripheral blood samples were prepared and exposed to challenge dose of 0 and 2 Gy. Lymphocytes were scored using analysis of metaphase, for the presence of chromosomal aberrations. An adaptive response was observed in HNBR and radiation workers groups in comparison with sham controls. A significant increase in adaptive response was observed in the HNBR group if compared with the occupationally exposed group. These findings indicate that both natural background radiation and occupational exposure could induce cytogenetic radioadaptive response and it is more significant regarding to natural background ionising radiation. (author)

Chromosomal study for prognostic grouping in chronic lymphocytic leukemia

International Nuclear Information System (INIS)

Junaid, A.; Rao, P.N.

2010-01-01

To determine the frequency of various cytogenetic aberrations in newly diagnosed chronic lymphocytic leukemia (CLL) patients, and their detection rate by cytogenetic and fluorescent In situ hybridization (FISH) technique separately. Analysis was made on 100 diagnosed chronic lymphocytic leukemia patients. Cytogenetics and FISH technique were performed on blood or bone marrow samples. Nineteen out of 100 cases (19%) showed karyotype abnormalities; whereas 55 showed abnormalities using the CLL - specific FISH probes. The most frequent abnormality detected by standard cytogenetics was trisomy 12. The most common abnormality detected by FISH was a deletion of 13q14 (40 out of 55 cases; 72% of the abnormal). For prognostic grouping of CLL patients, FISH must always be requested which may even replace standard karyotyping. These chromosomal markers help in choosing the therapeutic options. (author)

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 ...

Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency

Energy Technology Data Exchange (ETDEWEB)

Worley, K.C.; Lindsay, E.A.; McCabe, E.R.B. [Baylor College of Medicine, Houston, TX (United States)] [and others

1995-07-17

Diagnosis of X-chromosomal microdeletions has relied upon the traditional methods of Southern blotting and DNA amplification, with carrier identification requiring time-consuming and unreliable dosage calculations. In this report, we describe rapid molecular cytogenetic identification of deleted DNA in affected males with the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and female carriers for this disorder. CGKD deletions involve the genes for glycerol kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We report an improved method for diagnosis of deletions in individuals with CGKD and for identification of female carriers within their families using fluorescence in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol kinase gene. When used in combination with an Xq control probe, affected males demonstrate a single signal from the control probe, while female carriers demonstrate a normal chromosome with two signals, as well as a deleted chromosome with a single signal from the control probe. FISH analysis for CGKD provides the advantages of speed and accuracy for evaluation of submicroscopic X-chromosome deletions, particularly in identification of female carriers. In addition to improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more readily available. 17 refs., 2 figs.

Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome

Science.gov (United States)

BAZIZ, Meriem; HAMOULI-SAID, Zohra; RATBI, Ilham; HABEL, Mohamed; GUAOUA, Soukaina; SBITI, Aziza; SEFIANI, Abdelaziz

2016-01-01

Background: In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects by karyotype analysis in Algerian infertile men, using peripheral blood lymphocytes. Methods: A cytogenetic study was conducted on 10 men from infertile couples by Karyotype analysis of R-banding performed by lymphocyte culture technique. Fluorescence in situ hybridization was performed and molecular abnormalities were investigated by polymerase chain reaction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) levels were evaluated by immunoradiometric method. Results: Chromosomal abnormalities were observed in 30% of the patients. We identified a homogenous Klinefelter syndrome patient with 47, XXY karyotype, a mosaic Klinefelter syndrome patient with 47, XXY/46, XY karyotype and a 46, XX male. Fluorescence in situ hybridization showed that the sex-determining region Y was translocated to the short arm of the X chromosome in patient with 46, XX chromosomal constitution and the presence of the SRY gene was confirmed by polymerase chain reaction and electrophoresis. Conclusion: The occurrence of chromosomal abnormalities in 30% of the infertile men strongly supports the inclusion of routine cytogenetic testing for diagnostic establishment and suitable counseling for couples seeking for assisted reproduction technologies. PMID:27648416

GENETIC POLYMORPHISM AND CYTOGENETIC CHANGES IN THE PERIPHERAL BLOOD T-LYMPHOCYTES OF PATIENTS WITH ARTHRITIS ASSOCIATED WITH IXODES TICK-BORNE BORRELIOSIS IN THE NORTHERN REGIONS OF SIBERIA

Directory of Open Access Journals (Sweden)

N. N. Ilyinskikh

2017-01-01

Full Text Available The authors have previously conducted studies that demonstrate the increased level of cytogenetic disturbances in patients with Ixodes tick-borne borreliosis (ITB. The severity of arthritis associated with ITB (AITB is also ascertained to depend on whether the patient has certain HLA-DRB1 alleles.Objective: to assess the association between HLA-DRB1 gene polymorphism and cytogenetic changes in the peripheral blood T lymphocytes of patients with AITB.Subjects and methods. 146 patients with AITB, 100 clinically healthy convalescents with ITB (CITB, and a control group of 98 healthy blood donors (HBDs without a history of tick-borne infections were examined using cytogenetic (micronucleus analysis of cytokinesis-blocked peripheral blood T lymphocytes and molecular genetic (PCR analysis of HLA-DRB1 gene polymorphism methods.Results and discussion. The frequency of cytokinesis-blocked lymphocytes with micronuclei in the AITB group was significantly higher than that in the CITB and HBD groups (p<0.01 with the exception of the results obtained in the subgroup of patients with AITB who had the DRB1*10 allele (p>0.05. The highest levels of lymphocytes with micronuclei were observed in AITB patients with the DRB1*17(03, *01, and *04 alleles as compared to those in the CITB and HBD groups (p<0.001. The CITB group showed the most significant increase in the detection rate of lymphocytes with micronuclei in people with the DRB1*01, DRB1*04, or *17(03 alleles. At the same time, there were no significant differences in the number of lymphocytes with micronuclei in the HBD group, depending on the HLA-DRB1 gene alleles (p>0.05. Thus, the patients with AITB had the highest frequency of cytogenetic disorders with the exception of individuals with the DRB1*10 allele.

Chronic myeloid leukemia and interferon-alpha : a study of complete cytogenetic responders

NARCIS (Netherlands)

Bonifazi, F; de Vivo, A; Rosti, G; Guilhot, F; Guilhot, J; Trabacchi, E; Hehlmann, R; Hochhaus, A; Shepherd, PCA; Steegmann, JL; Kluin-Nelemans, HC; Thaler, J; Simonsson, B; Louwagie, A; Reiffers, J; Mahon, FX; Montefusco, E; Alimena, G; Hasford, J; Richards, S; Saglio, G; Testoni, N; Martinelli, G; Tura, S; Baccarani, M

2001-01-01

Achieving a complete cytogenetic response (CCgR) is a major target in the treatment of chronic myeloid leukemia (CIVIL) with interferon-alpha (IFN-alpha), but CCgRs are rare. The mean CCgR rate is 13%, in a range of 5% to 33%. A collaborative study of 9 European Union countries has led to the

In vivo synergistic cytogenetic effects of aminophylline on lymphocyte cultures from patients with lung cancer undergoing chemotherapy

International Nuclear Information System (INIS)

Mylonaki, Effie; Manika, Katerina; Zarogoulidis, Paul; Domvri, Kalliopi; Voutsas, Vasilis; Zarogoulidis, Kostas; Mourelatos, Dionysios

2012-01-01

Highlights: ► SCEs in vivo, a possible predictor of tumor chemoresponse. ► In vivo exposure to combined treatment, applying the SCE assay. ► Aminophylline enhances DNA instability induced by chemotherapy in vivo. ► In vivo synergistic effect of Aminophylline with the chemotherapeutic agents. - Abstract: Background: The anti-cancer and cytogenetic effects of aminophylline (AM) have been demonstrated in several clinical trials. The aim of the present study was to investigate the in vivo cytogenetic effects of AM in newly diagnosed patients with small cell (SCLC) and non-small cell lung cancer (NSCLC), receiving chemotherapy for the first time. Methods: Sister chromatid exchanges (SCEs) and proliferation rate index (PRI) were evaluated in peripheral blood lymphocyte cultures from six patients with SCLC and six patients with NSCLC after the in vitro addition of AM and after the in vivo administration of AM in patients receiving chemotherapy. Results: The in vitro addition of AM significantly increased SCEs only in SCLC patients (p 0.05). Conclusions: These observations suggest that AM enhances the results of concurrently administered chemotherapy by synergistically increasing its cytogenetic effects in patients with lung cancer

Proposed minimum reporting standards for chemical analysis Chemical Analysis Working Group (CAWG) Metabolomics Standards Initiative (MSI)

Science.gov (United States)

Amberg, Alexander; Barrett, Dave; Beale, Michael H.; Beger, Richard; Daykin, Clare A.; Fan, Teresa W.-M.; Fiehn, Oliver; Goodacre, Royston; Griffin, Julian L.; Hankemeier, Thomas; Hardy, Nigel; Harnly, James; Higashi, Richard; Kopka, Joachim; Lane, Andrew N.; Lindon, John C.; Marriott, Philip; Nicholls, Andrew W.; Reily, Michael D.; Thaden, John J.; Viant, Mark R.

2013-01-01

There is a general consensus that supports the need for standardized reporting of metadata or information describing large-scale metabolomics and other functional genomics data sets. Reporting of standard metadata provides a biological and empirical context for the data, facilitates experimental replication, and enables the re-interrogation and comparison of data by others. Accordingly, the Metabolomics Standards Initiative is building a general consensus concerning the minimum reporting standards for metabolomics experiments of which the Chemical Analysis Working Group (CAWG) is a member of this community effort. This article proposes the minimum reporting standards related to the chemical analysis aspects of metabolomics experiments including: sample preparation, experimental analysis, quality control, metabolite identification, and data pre-processing. These minimum standards currently focus mostly upon mass spectrometry and nuclear magnetic resonance spectroscopy due to the popularity of these techniques in metabolomics. However, additional input concerning other techniques is welcomed and can be provided via the CAWG on-line discussion forum at http://msi-workgroups.sourceforge.net/ or http://Msi-workgroups-feedback@lists.sourceforge.net. Further, community input related to this document can also be provided via this electronic forum. PMID:24039616

[Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy].

Science.gov (United States)

Xiao, Wenjun; Gao, Zhenkui; Meng, Qian; Zhang, Man

2014-12-01

To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype. The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature. The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter). A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.

Chromosomal abnormalities in 163 Tunisian couples with recurrent ...

African Journals Online (AJOL)

The aim of the present study was to identify the distribution of chromosome abnormalities among Tunisian couples with RM referred to the Department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia) during the last five years. Standard cytogenetic analysis was carried out in a total of 163 couples presenting with two ...

Cytogenetic Response to Ionizing Radiation Exposure in Human Fibroblasts with Suppressed Expression of Non-DSB Repair Genes

Science.gov (United States)

Zhang, Ye; Rohde, Larry H.; Emami, Kamal; Hammond, Dianne; Mehta, Satish K.; Jeevarajan, Antony S.; Pierson, Duane L.; Wu, Honglu

2009-01-01

Changes of gene expression profile are one of the most important biological responses in living cells after ionizing radiation (IR) exposure. Although some studies have shown that genes up-regulated by IR may play important roles in DNA damage repair, the relationship between the regulation of gene expression by IR, particularly genes not known for their roles in double-strand break (DSB) repair, and its impact on cytogenetic responses has not been well studied. The purpose of this study is to identify new roles of IR inducible genes in radiation-induced chromosome aberrations and micronuclei formation. In the study, the expression of 25 genes selected on the basis of their transcriptional changes in response to IR was individually knocked down by small interfering RNA in human fibroblast cells. Frequencies of micronuclei (MN) formation and chromosome aberrations were measured to determine the efficiency of cytogenetic repair, and the fraction of bi-nucleated cells in the MN analysis was used as a marker for cell cycle progression. In response to gamma radiation, the formation of MN was significantly increased by suppressed expression of five genes: Ku70 (DSB repair pathway), XPA (nucleotide excision repair pathway), RPA1 (mismatch repair pathway), RAD17 and RBBP8 (cell cycle control). Knocked-down expression of four genes (MRE11A, RAD51 in the DSB pathway, SESN1, and SUMO1) significantly inhibited cell cycle progression, possibly because of severe impairment of DNA damage repair. Moreover, decreased XPA, p21, or MLH1 expression resulted in both significantly enhanced cell cycle progression and increased yields of chromosome aberrations, indicating that these gene products modulate both cell cycle control and DNA damage repair. Nine of these eleven genes, whose knock-down expression affected cytogenetic repair, were up-regulated in cells exposed to gamma radiation, suggesting that genes transcriptionally modulated by IR were critical to regulate IR

Validation of cytogenetic risk groups according to International Prognostic Scoring Systems by peripheral blood CD34+FISH: results from a German diagnostic study in comparison with an international control group

Science.gov (United States)

Braulke, Friederike; Platzbecker, Uwe; Müller-Thomas, Catharina; Götze, Katharina; Germing, Ulrich; Brümmendorf, Tim H.; Nolte, Florian; Hofmann, Wolf-Karsten; Giagounidis, Aristoteles A. N.; Lübbert, Michael; Greenberg, Peter L.; Bennett, John M.; Solé, Francesc; Mallo, Mar; Slovak, Marilyn L.; Ohyashiki, Kazuma; Le Beau, Michelle M.; Tüchler, Heinz; Pfeilstöcker, Michael; Nösslinger, Thomas; Hildebrandt, Barbara; Shirneshan, Katayoon; Aul, Carlo; Stauder, Reinhard; Sperr, Wolfgang R.; Valent, Peter; Fonatsch, Christa; Trümper, Lorenz; Haase, Detlef; Schanz, Julie

2015-01-01

International Prognostic Scoring Systems are used to determine the individual risk profile of myelodysplastic syndrome patients. For the assessment of International Prognostic Scoring Systems, an adequate chromosome banding analysis of the bone marrow is essential. Cytogenetic information is not available for a substantial number of patients (5%–20%) with dry marrow or an insufficient number of metaphase cells. For these patients, a valid risk classification is impossible. In the study presented here, the International Prognostic Scoring Systems were validated based on fluorescence in situ hybridization analyses using extended probe panels applied to cluster of differentiation 34 positive (CD34+) peripheral blood cells of 328 MDS patients of our prospective multicenter German diagnostic study and compared to chromosome banding results of 2902 previously published patients with myelodysplastic syndromes. For cytogenetic risk classification by fluorescence in situ hybridization analyses of CD34+ peripheral blood cells, the groups differed significantly for overall and leukemia-free survival by uni- and multivariate analyses without discrepancies between treated and untreated patients. Including cytogenetic data of fluorescence in situ hybridization analyses of peripheral CD34+ blood cells (instead of bone marrow banding analysis) into the complete International Prognostic Scoring System assessment, the prognostic risk groups separated significantly for overall and leukemia-free survival. Our data show that a reliable stratification to the risk groups of the International Prognostic Scoring Systems is possible from peripheral blood in patients with missing chromosome banding analysis by using a comprehensive probe panel (clinicaltrials.gov identifier:01355913). PMID:25344522

Validation of cytogenetic risk groups according to International Prognostic Scoring Systems by peripheral blood CD34+FISH: results from a German diagnostic study in comparison with an international control group.

Science.gov (United States)

Braulke, Friederike; Platzbecker, Uwe; Müller-Thomas, Catharina; Götze, Katharina; Germing, Ulrich; Brümmendorf, Tim H; Nolte, Florian; Hofmann, Wolf-Karsten; Giagounidis, Aristoteles A N; Lübbert, Michael; Greenberg, Peter L; Bennett, John M; Solé, Francesc; Mallo, Mar; Slovak, Marilyn L; Ohyashiki, Kazuma; Le Beau, Michelle M; Tüchler, Heinz; Pfeilstöcker, Michael; Nösslinger, Thomas; Hildebrandt, Barbara; Shirneshan, Katayoon; Aul, Carlo; Stauder, Reinhard; Sperr, Wolfgang R; Valent, Peter; Fonatsch, Christa; Trümper, Lorenz; Haase, Detlef; Schanz, Julie

2015-02-01

International Prognostic Scoring Systems are used to determine the individual risk profile of myelodysplastic syndrome patients. For the assessment of International Prognostic Scoring Systems, an adequate chromosome banding analysis of the bone marrow is essential. Cytogenetic information is not available for a substantial number of patients (5%-20%) with dry marrow or an insufficient number of metaphase cells. For these patients, a valid risk classification is impossible. In the study presented here, the International Prognostic Scoring Systems were validated based on fluorescence in situ hybridization analyses using extended probe panels applied to cluster of differentiation 34 positive (CD34(+)) peripheral blood cells of 328 MDS patients of our prospective multicenter German diagnostic study and compared to chromosome banding results of 2902 previously published patients with myelodysplastic syndromes. For cytogenetic risk classification by fluorescence in situ hybridization analyses of CD34(+) peripheral blood cells, the groups differed significantly for overall and leukemia-free survival by uni- and multivariate analyses without discrepancies between treated and untreated patients. Including cytogenetic data of fluorescence in situ hybridization analyses of peripheral CD34(+) blood cells (instead of bone marrow banding analysis) into the complete International Prognostic Scoring System assessment, the prognostic risk groups separated significantly for overall and leukemia-free survival. Our data show that a reliable stratification to the risk groups of the International Prognostic Scoring Systems is possible from peripheral blood in patients with missing chromosome banding analysis by using a comprehensive probe panel (clinicaltrials.gov identifier:01355913). Copyright© Ferrata Storti Foundation.

Cytogenetic examination in remote period after the stay in the Semipalatinsk nuclear test site area

Directory of Open Access Journals (Sweden)

Nugis V.Yu.

2015-12-01

Full Text Available Aim: retrospective cytogenetic indication of doses probably received by individuals during the residence in the region of the Semipalatinsk nuclear test site, at work or service in the Armed Forces on it. Material and methods: the analysis of chromosomal aberrations in peripheral blood lymphocyte cultures of 16 people с using FISH-method. Re-sults. The frequencies of FISH-registered translocations were not significantly different from control values in 7 out of 16 cases; the dose evaluations ranged from 0.20 to 0.75 Sv for the remaining 9 persons. Conclusion. FISH-technique of chromosome aberration analysis allows to make retrospective dose assessment; however it is desirable simultaneously to produce classical analysis also for a more correct interpretation of the results; Detection of single multiaber-rant cells in peripheral blood lymphocyte cultures is characteristic of persons who were in the areas of alpha-emitting radionuclide pollution, what is allowed to talk about radiation damage, but does not allow to make dose assessment.

Application of mammalian cytogenetics to mutagenicity studies

International Nuclear Information System (INIS)

Brewen, J.G.

1977-01-01

Studies on induction of chromosome damage in germ cells by triethylene melamine (TEM) included determination of frequencies of chromosomal aberrations observed in human leukocytes after treating different stages of the cell cycle with TEM, frequencies of chromatid aberrations in metaphase I oocytes and the female pronuclear chromosomes following treatment of female mice with TEM, and frequencies of labeled diplotene-diakinesis figures and chromosome abberations at various intervals after treatment of primary spermatocytes with TEM and 3 H-thymidine. Studies on effects of low linear energy transfer radiation on mouse oocytes showed that the frequency of aberrations increased as a function of time and remained constant 8 to 9 days post-exposure. It was concluded that cytogenetic procedures were adequate to evaluate certain mutagenic end points

[Application of a modified culturing method for lymphocytes in cytogenetic research].

Science.gov (United States)

Gao, Chaoxian; Hui, Changye; Zhang, Wen; Guo, Yan; Li, Limei; Chen, Yuting; Zhang, Liuzhuo; Yang, Xinyue; Huang, Xianqing

2016-08-01

To establish a modified method for microculturing whole human blood for cytogenetic analysis. A novel tube rack was designed to overcome the drawbacks of directly culturing the cells within centrifuge tubes. The fractions of human plasma, human serum and two commercial fetal bovine sera were analyzed with 15% sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). The influence of adding 0%, 5%, 10%, 15%, 20%, 25% and 30% autologous plasma to the culture on lymphocyte transformation rate and mitotic index (MI) was examined. The SDS-PAGE analysis showed a significant difference between commercial fetal bovine sera, and that the components of human plasma were similar to those of fetal bovine serum. The value of MI in lymphocyte was evidently increased along with addition of autologous plasma. However, this has exerted no significant effect on the transformation rate. With the addition of 10% autologous plasma, the MI value has become much higher than the conventional method. A modified method was established by application of a novel tube inclined rack and optimization of whole blood inoculation. This method is easier and cheaper, and is suitable for application in clinical practice.

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

OpenAIRE

Tahir M. Malla; Arshad A. Pandith; Fayaz A. Dar; Mahrukh H. Zargar

2016-01-01

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. Conve...

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.

cytogenetic effects in populations of amphibians Rana arvalis living on the radio-contaminated area

Energy Technology Data Exchange (ETDEWEB)

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

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.

Classic and molecular cytogenetic analysis regarding human reactivity to beta radiation

International Nuclear Information System (INIS)

Usurelu Daniela; Radu Irina; Gavrila Lucian; Cimponeriu Danut; Apostol Pompilia; Ahmadi Elham

2007-01-01

, dicentric chromosomes, monochromatidic gap and so on. The most important targets for ionizing radiation being the telomeres, we've tested from this point of view the integrity/modification of telomeres by FISH technique. After we analyzed 100 fluorescent metaphases/irradiation doses/normal case we found the fluorescent signal in approx. 98% of the normal metaphases. After the irradiation, in cases like complex chromosomal interchange or telomere to telomere translocation we did not identified the fluorescent signal at the chromosomal ends implicated in the rearrangements. This observation and the fact that we found the signal on different acentric fragments revealed that the beta irradiation generates important destruction at the chromosomal end. In this study we've also analyzed one of the telomerase compounds - RNA compound, in normal condition and after beta irradiation by FISH technique. After the molecular cytogenetic analysis we identified the RNA telomerase compound on chromosome 3, q arm, at the two homologue chromosomes in normal probes and also in irradiated one. The fact that we did not found additional signals (more than four signal/metaphase) after irradiation with beta rays revealed the fact, that in this case, the telomerase is not amplified in order to repair the broken telomeres.

[Cytogenetic effect of cyclophosphamide in a culture of human lymphocytes following its activation in the bodies of mice].

Science.gov (United States)

Chebotarev, A N; Telegin, L I; Derzhavets, E M

1976-01-01

Cytogenetic effect of cyclophosphamide in cultured human lymphocytes after its activation in C57BL/6 mice in vivo was investigated. Cyclophosphamide was injected intraperitoneally in mice for 30 min. at doses of 200, 400, 600, 800 and 1000 mg/kg. Blood serum with activated metabolites of cyclophosphamide was added to human lymphocyte culture. The dependence of the part of aberrant metaphases on the concentration of cyclophosphamide after the activation can be presented as equation rho==1-e-(KC+alpha)2 and the total number of breaks as X=e(KC+alpha)2-1, where rho is a part of aberrant metaphases, X is a number of breaks of chromosomes per cell, C is the concentration, K and alpha are coefficients. The part of chromatid breaks from the total number of chromosome damages is constant for all concentrations and the comprises on the average 79,11%. Only the chromatid type of exchanges are observed. Distribution of chromosome breaks in cells corresponds to geometrical, but not to Poisson's distribution. Cyclophosphamide belongs to the group of one-sited mutagens in its cytogenetic chatacteristics. The alkylating activity of cyclophosphamide metabolites, estimated by means of NBP test, increases up to the dose 400 mg/kg and then remains constant for the strain of mice studied, cytogenetic activity increasing. Cyclophosphamide does not produce cytogenetic activity without activation. To test chemical substances for mutagenic activity, it is suggested to activate them in the mouse organism with the following administrating blood serum of these animals with the metabolites of tested (or with primary) substances in the study of their mutagenic activity on human lymphocyte culture.

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)

Ultraviolet Radiation-Induced Cytogenetic Damage in White, Hispanic and Black Skin Melanocytes: A Risk for Cutaneous Melanoma

Energy Technology Data Exchange (ETDEWEB)

Dasgupta, Amrita [Hampton University Skin of Color Research Institute, Hampton, VA 23668 (United States); Katdare, Meena, E-mail: mkatdare@gmail.com [Hampton University Skin of Color Research Institute, Hampton, VA 23668 (United States); Department of Dermatology, Eastern Virginia Medical School, Norfolk, VA 23507 (United States)

2015-08-14

Cutaneous Melanoma (CM) is a leading cause of cancer deaths, with reports indicating a rising trend in the incidence rate of melanoma among Hispanics in certain U.S. states. The level of melanin pigmentation in the skin is suggested to render photoprotection from the DNA-damaging effects of Ultraviolet Radiation (UVR). UVR-induced DNA damage leads to cytogenetic defects visualized as the formation of micronuclei, multinuclei and polymorphic nuclei in cells, and a hallmark of cancer risk. The causative relationship between Sun exposure and CM is controversial, especially in Hispanics and needs further evaluation. This study was initiated with melanocytes from White, Hispanic and Black neonatal foreskins which were exposed to UVR to assess their susceptibility to UVR-induced modulation of cellular growth, cytogenetic damage, intracellular and released melanin. Our results show that White and Hispanic skin melanocytes with similar levels of constitutive melanin are susceptible to UVR-induced cytogenetic damage, whereas Black skin melanocytes are not. Our data suggest that the risk of developing UVR-induced CM in a skin type is correlated with the level of cutaneous pigmentation and its ethnic background. This study provides a benchmark for further investigation on the damaging effects of UVR as risk for CM in Hispanics.

Ultraviolet Radiation-Induced Cytogenetic Damage in White, Hispanic and Black Skin Melanocytes: A Risk for Cutaneous Melanoma

International Nuclear Information System (INIS)

Dasgupta, Amrita; Katdare, Meena

2015-01-01

Cutaneous Melanoma (CM) is a leading cause of cancer deaths, with reports indicating a rising trend in the incidence rate of melanoma among Hispanics in certain U.S. states. The level of melanin pigmentation in the skin is suggested to render photoprotection from the DNA-damaging effects of Ultraviolet Radiation (UVR). UVR-induced DNA damage leads to cytogenetic defects visualized as the formation of micronuclei, multinuclei and polymorphic nuclei in cells, and a hallmark of cancer risk. The causative relationship between Sun exposure and CM is controversial, especially in Hispanics and needs further evaluation. This study was initiated with melanocytes from White, Hispanic and Black neonatal foreskins which were exposed to UVR to assess their susceptibility to UVR-induced modulation of cellular growth, cytogenetic damage, intracellular and released melanin. Our results show that White and Hispanic skin melanocytes with similar levels of constitutive melanin are susceptible to UVR-induced cytogenetic damage, whereas Black skin melanocytes are not. Our data suggest that the risk of developing UVR-induced CM in a skin type is correlated with the level of cutaneous pigmentation and its ethnic background. This study provides a benchmark for further investigation on the damaging effects of UVR as risk for CM in Hispanics

Flow cytogenetic studies in chromosomes and whole cells for the detection of clastogenic effects

International Nuclear Information System (INIS)

Otto, F.J.; Oldiges, H.

1980-01-01

Flow cytometric measurements of the chromosomal DNA content have been used to develop a screening method for the detection of chemically- or physically-induced cytogenetic damage. The reproducibility of this flow cytogenetic assay was shown in a series of subcultures of a Chinese hamster cell clone. The accuracy and sensitivity was tested in cultures treated with chemical mutagens and x-rays. The clastogenic effectiveness was quantified and the dose-effect relationship was established by the increase of the coefficient of variation of the peak of the largest chromosome type in the flow histograms. Since structural chromosome aberrations cause an unequal division of the DNA at mitosis, it is expected that clastogenic effects can be detected also in whole cells of growing populations as an increased dispersion of the cellular DNA content. In order to test this feature, high resolution flow cytometric measurements were performed in x-irradiated hamster cells in vitro and mouse bone marrow cells in vivo

Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

Directory of Open Access Journals (Sweden)

Daiane Corrêa de Souza

2014-01-01

Full Text Available We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q/−5, del(6q/+6, del(7q/−7, del(11q, and del(17p. Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients (P < 0,05. From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (−7, +8 and structural del(6q, del(7q, i(7q, t(7;9, i(9q, and del(11q abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1 and group 2 (intermediate-2 and high risk, we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes (P < 0,0001, evolution of disease (P < 0,0001, and mortality (P < 0,001. In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up.

Phytochemical and Cytogenetic Characterization of Centaurea solstitialis L. (Asteraceae) from Croatia.

Science.gov (United States)

Carev, Ivana; Ruščić, Mirko; Skočibušić, Mirjana; Maravić, Ana; Siljak-Yakovlev, Sonja; Politeo, Olivera

2017-02-01

The cytogenetic characterization of Centaurea solstitialis L. (Asteraceae) showed a chromosome number of 2n = 16. Karyotype is composed by four pairs of metacentric, two pairs of submetacentric and two pairs of subtelocentric chromosomes. Physical mapping of two rDNA probes revealed two loci of 35S and one locus of 5S rRNA genes. Chromomycin fluorochrome banding revealed that all rDNA loci were GC rich. The genome size (2C-value) of 1.95 pg classes this species in the group of very small genomes. Chemical composition of C. solstitialis volatile oil (VO) from Croatia, studied with gas chromatography-mass spectrometry showed dominant components as it follows: hexadecanoic acid, α-linolenic acid, germacrene D and heptacosane. Antioxidant capacity, measured by ferric reducing power assay and 2,2-diphenyl-1-picrylhydrazyl methods, as well as inhibition of acetyl- and butyrylcholinesterase of VO was lower comparing to a standard solutions. Volatile oil tested with disc diffusion method showed good inhibitory potential against Pseudomonas aeruginosa, Escherichia coli and all tested fungi: Candida albicans, Penicillium funiculosum and Aspergillus fumigatus. The microdilution method showed best activity against Chronobacter sakazakii and A. fumigatus. © 2017 Wiley-VHCA AG, Zurich, Switzerland.

Impact of the optical depth of field on cytogenetic image quality

Science.gov (United States)

Qiu, Yuchen; Chen, Xiaodong; Li, Yuhua; Zheng, Bin; Li, Shibo; Chen, Wei R.; Liu, Hong

2012-09-01

In digital pathology, clinical specimen slides are converted into digital images by microscopic image scanners. Since random vibration and mechanical drifting are unavoidable on even high-precision moving stages, the optical depth of field (DOF) of microscopic systems may affect image quality, in particular when using an objective lens with high magnification power. The DOF of a microscopic system was theoretically analyzed and experimentally validated using standard resolution targets under 60× dry and 100× oil objective lenses, respectively. Then cytogenetic samples were imaged at in-focused and off-focused states to analyze the impact of DOF on the acquired image qualities. For the investigated system equipped with the 60× dry and 100× oil objective lenses, the theoretical estimation of the DOF are 0.855 μm and 0.703 μm, and the measured DOF are 3.0 μm and 1.8 μm, respectively. The observation reveals that the chromosomal bands of metaphase cells are distinguishable when images are acquired up to approximately 1.5 μm or 1 μm out of focus using the 60× dry and 100× oil objective lenses, respectively. The results of this investigation provide important designing trade-off parameters to optimize the digital microscopic image scanning systems in the future.

Fluorescence immunophenotyping and interphase cytogenetics (FICTION) detects BCL6 abnormalities, including gene amplification, in most cases of nodular lymphocyte-predominant Hodgkin lymphoma.

Science.gov (United States)

Bakhirev, Alexei G; Vasef, Mohammad A; Zhang, Qian-Yun; Reichard, Kaaren K; Czuchlewski, David R

2014-04-01

BCL6 translocations are a frequent finding in B-cell lymphomas of diverse subtypes, including some cases of nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL). However, reliable analysis of BCL6 rearrangements using fluorescence in situ hybridization is difficult in NLPHL because of the relative paucity of neoplastic cells. Combined immunofluorescence microscopy and fluorescence in situ hybridization, or fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms (FICTION), permits targeted analysis of neoplastic cells. To better define the spectrum of BCL6 abnormalities in NLPHL using FICTION analysis. We performed an optimized FICTION analysis of 24 lymph nodes, including 11 NLPHL, 5 follicular hyperplasia with prominent progressive transformation of germinal centers, and 8 follicular hyperplasia without progressive transformation of germinal centers. BCL6 rearrangement was identified in 5 of 11 cases of NLPHL (46%). In addition, BCL6 gene amplification, with large clusters of BCL6 signals in the absence of chromosome 3 aneuploidy, was detected in 3 of 11 cases of NLPHL (27%). One NLPHL showed extra copies of BCL6 present in conjunction with multiple copies of chromosome 3. Altogether, we detected BCL6 abnormalities in 9 of 11 cases of NLPHL (82%). None of the progressive transformation of germinal centers or follicular hyperplasia cases showed BCL6 abnormalities by FICTION. To our knowledge, this is the first report of BCL6 gene amplification in NLPHL. Our optimized protocol for FICTION permits detection of cytogenetic abnormalities in most NLPHL cases and may represent a useful ancillary diagnostic technique.

Cytogenetic effect of 153 Sm-EDTMP in peripheral lymphocytes of patients with metastatic cancer

International Nuclear Information System (INIS)

Silva, Marcia Augusta da

2001-01-01

The 153 Sm-EDTMP is a radiopharmaceutical used in nuclear medicine with promising results for the relief of metastatic pain. Therefore, there are few knowledge about the effects of 153 Sm-EDTMP at cellular level. The present study was conduced with the aim of evaluating the cytogenetic effects of 153 Sm-EDTMP in peripheral lymphocytes from patients with bone metastasis (with and without previous radio and/or chemotherapy) by the chromosome aberration technique, either in vivo or in vitro. For that, the blood samples were collected before and one hour after the endovenous administration of 153 Sm-EDTMP (mean activity of 42.53+/-5.31 MBq/kg body weight), taking into account the rapid blood clearance. The principal types of structural chromosome aberrations found gaps and breaks, acentric fragments centric rings, double minutes and dicentrics. The statistical analysis showed that the group submitted to previous radio and chemotherapy before 153 Sm-EDTMP administration showed significant difference in chromosome aberrations frequency one hour after the treatment. The analysis of the chromosome modal number and the kinetics of cellular cycle showed no statistical difference among the groups, suggesting that the treatment with 153 Sm-EDTMP, did not influence these parameters. The carrier molecule, EDTMP, did not influence the induction of chromosome aberration. In relation to the in vitro assays, the obtained data of peripheral lymphocytes of healthy donors and patients with no previous treatment exposed to different radioactive concentration of 153 Sm-EDTMP (0.046 - 1.110 MBq/mL) were better adjusted by linear regression model (Y=A+BX). The chromosome damage induced by 153 Sm-EDTMP observed in vitro was about 2 fold higher than that found in vivo for the group of patients with no previous treatment. The obtained data showed that the therapy with 153 Sm-EDTMP induced a few quantity of cytogenetic damages in peripheral lymphocytes on hour after its administration in

Human cytogenetic dosimetry: a dose-response relationship for alpha particle radiation from 241Am

International Nuclear Information System (INIS)

DuFrain, R.J.; Littlefield, L.G.; Joiner, E.E.; Frome, E.L.

1979-01-01

Cytogenetic dosimetry estimates to guide treatment of persons internally contaminated with transuranic elements have not previously been possible because appropriate in vitro dose-response curves specifically for alpha particle irradiation of human lymphocytes do not exist. Using well-controlled cytogenetic methods for human lymphocyte culture, an experimentally derived dose-response curve for 241 Am alpha particle (5.49 and 5.44 MeV) radiation of G 0 lymphocytes was generated. Cells were exposed to 43.8, 87.7, 175.3 or 350.6 nCi/ml 241 Am for 1.7 hr giving doses of 0.85, 1.71, 3.42 or 6.84 rad. Based on dicentric chromosome yield, the linear dose-response equation is Y = 4.90(+-0.42) x 10 -2 X, with Y given as dicentrics per cell and X as dose in rads. The study also shows that the two-break asymmetrical exchanges in cells damaged by alpha particle radiation are overdispersed when compared to a Poisson distribution. An example is presented to show how the derived dose-response equation can be used to estimate the radiation dose for a person internally contaminated with an actinide. An experimentally derived RBE value of 118 at 0.85 rad is calculated for the efficiency of 241 Am alpha particle induction of dicentric chromosomes in human G 0 lymphocytes as compared with the efficiency of 60 Co gamma radiation. The maximum theoretical value for the RBE for cytogenetic damage from alpha irradiation was determined to be 278 at 0.1 rad or less which is in marked contrast to previously reported RBE values of approx. 20. (author)

Standardization of biodosimetry operations

International Nuclear Information System (INIS)

Dainiak, Nicholas

2016-01-01

Methods and procedures for generating, interpreting and scoring the frequency of dicentric chromosomes vary among cytogenetic biodosimetry laboratories (CBLs). This variation adds to the already considerable lack of precision inherent in the dicentric chromosome assay (DCA). Although variability in sample collection, cell preparation, equipment and dicentric frequency scoring can never be eliminated with certainty, it can be substantially minimized, resulting in reduced scatter and improved precision. Use of standard operating procedures and technician exchange may help to mitigate variation. Although the development and adoption of international standards (ISO 21243 and ISO 19238) has helped to reduce variation in standard operating procedures (SOPs), all CBLs must maintain process improvement, and those with challenges may require additional assistance. Sources of variation that may not be readily apparent in the SOPs for sample collection and processing include variability in ambient laboratory conditions, media, serum lot and quantity and the use of particular combinations of cytokines. Variability in maintenance and calibration of metafer equipment, and in scoring criteria, reader proficiency and personal factors may need to be addressed. The calibration curve itself is a source of variation that requires control, using the same known-dose samples among CBLs, measurement of central tendency, and generation of common curves with periodic reassessment to detect drifts in dicentric yield. Finally, the dose estimate should be based on common scoring criteria, using of the z-statistic. Although theoretically possible, it is practically impossible to propagate uncertainty over the entire calibration curve due to the many factors contributing to variance. Periodic re-evaluation of the curve is needed by comparison with newly published curves (using statistical analysis of differences) and determining their potential causes. (author)

Cytogenetic investigations of persons exposed to professional chronic low-dose irradiation

International Nuclear Information System (INIS)

Rangelov, V.; Mitev, L.; Petrunov, P.; Vesselinova, L.

2005-01-01

The problem of long term influence of low-doses occupational irradiation is connected with the real assessment of their consequences. The current cytogenetic investigations were done on persons working under occupational chronic external partial irradiation. Accumulated doses of external irradiation are surveyed. Data give ground for suggestion about the relationship between accumulated dose and chromosomal aberrations. The additional damage factors (diagnostic investigations, chemical substances, tobacco addict) have done the more significant influence upon aberrations appearance increasing

Changes in cytogenetics and molecular genetics in acute myeloid leukemia from childhood to adult age groups.

Science.gov (United States)

Creutzig, Ursula; Zimmermann, Martin; Reinhardt, Dirk; Rasche, Mareike; von Neuhoff, Christine; Alpermann, Tamara; Dworzak, Michael; Perglerová, Karolína; Zemanova, Zuzana; Tchinda, Joelle; Bradtke, Jutta; Thiede, Christian; Haferlach, Claudia

2016-12-15

To obtain better insight into the biology of acute myeloid leukemia (AML) in various age groups, this study focused on the genetic changes occurring during a lifetime. This study analyzed the relation between age and genetics from birth to 100 years in 5564 patients with de novo AML diagnosed from 1998 to 2012 (1192 patients from nationwide pediatric studies [AML Berlin-Frankfurt-Münster studies 98 and 2004] and 4372 adults registered with the Munich Leukemia Laboratory). The frequencies of cytogenetic subgroups were age-dependent. Favorable subtypes (t(8;21), inv(16)/t(16;16), and t(15;17)) decreased in general from the pediatric age group (2 to groups ( 70 years; P age-specific incidence with age. Interestingly, the frequency of 11q23 abnormalities decreased from infants to older patients. The proportion of clinically relevant molecular aberrations of CCAAT/enhancer binding protein α, nucleophosmin (NPM1), and NPM1/fms-related tyrosine kinase 3-internal tandem duplication increased with age. Altogether, with the exclusion of infants, a significant decrease in the proportion of favorable cytogenetic subtypes and an increase in unfavorable cytogenetics were observed with increasing age. These findings indicate different mechanisms for the pathogenesis of AML; these different mechanisms also suggest directions for etiological research and contribute to the more unfavorable prognosis with increasing age. Cancer 2016;122:3821-3830. © 2016 American Cancer Society. © 2016 American Cancer Society.

Cytogenetics data in adult men involved in the recycling of electronic wastes

Directory of Open Access Journals (Sweden)

Yanan Du

2018-04-01

Full Text Available In this data article, 146 villagers (exposed group were randomly selected from the workers who involved in the e-wastes recycling directly as a daily job in Tianjin. Control group, including 121 villagers, came from another town without e-waste disposal sites. Chromosomal aberrations (CA and cytokinesis blocking micronucleus (CBMN were performed to detect the cytogenetic effect for each subject. DNA damage was detected using comet assay; the DNA percentage in the comet tail (TDNA%, tail moment (TM, and Olive tail moment (OTM were recorded to describe DNA damage to lymphocytes and spermatozoa. Routine semen analysis, spermatozoa motility and morphology were analyzed. The RT2Profiler PCR array was used to measure levels of expression of 84 genes related to quality of DNA. It showed significant relationships between CA, CBMN, DNA damage and exposure time in exposure subjects. The alteration of sperm motility rate, abnormality rate and total sperm counts had association with exposure time and age.

Cytogenetic effect of low dose gamma-radiation in Hordeum vulgare seedlings: non-linear dose-effect relationship.

Science.gov (United States)

Geras'kin, Stanislav A; Oudalova, Alla A; Kim, Jin Kyu; Dikarev, Vladimir G; Dikareva, Nina S

2007-03-01

The induction of chromosome aberrations in Hordeum vulgare germinated seeds was studied after ionizing irradiation with doses in the range of 10-1,000 mGy. The relationship between the frequency of aberrant cells and the absorbed dose was found to be nonlinear. A dose-independent plateau in the dose range from about 50 to 500 mGy was observed, where the level of cytogenetic damage was significantly different from the spontaneous level. The comparison of the goodness of the experimental data fitting with mathematical models of different complexity, using the most common quantitative criteria, demonstrated the advantage of a piecewise linear model over linear and polynomial models in approximating the frequency of cytogenetical disturbances. The results of the study support the hypothesis of indirect mechanisms of mutagenesis induced by low doses. Fundamental and applied implications of these findings are discussed.

Additional cytogenetic abnormalities and variant t(9;22) at the diagnosis of childhood chronic myeloid leukemia

DEFF Research Database (Denmark)

Millot, Frédéric; Dupraz, Christelle; Guilhot, Joelle

2017-01-01

for Chronic Myeloid Leukemia in Children and Adolescents. RESULTS: Overall, 19 children (6.3%) presented with additional cytogenetic findings at diagnosis: 5 children (1.7%) had a variant t(9;22) translocation, 13 children (4.3%) had ACAs, and 1 had both. At 3 years, for children with a classic translocation......BACKGROUND: In the adult population with newly diagnosed chronic myeloid leukemia (CML), variant translocations are usually not considered to be impairing the prognosis, whereas some additional cytogenetic abnormalities (ACAs) are associated with a negative impact on survival. Because of the rarity...... of CML in the pediatric population, such abnormalities have not been investigated in a large group of children with CML. METHODS: The prognostic relevance of variant t(9;22) and ACAs at diagnosis was assessed in 301 children with CML in the chronic phase who were enrolled in the International Registry...

Comparative Cytogenetic Study on the Toxicity of Magnetite and Zinc Ferrite Nanoparticles in Sunflower Root Cells

Science.gov (United States)

Foca-nici, Ecaterina; Capraru, Gabriela; Creanga, Dorina

2010-12-01

In this experimental study the authors present their results regarding the cellular division rate and the percentage of chromosomal aberrations in the root meristematic cells of Helianthus annuus cultivated in the presence of different volume fractions of magnetic nanoparticle suspensions, ranging between 20 and 100 microl/l. The aqueous magnetic colloids were prepared from chemically co-precipitated ferrites coated in sodium oleate. Tissue samples from the root meristeme of 2-3 day old germinated seeds were taken to prepare microscope slides following Squash method combined with Fuelgen techniques. Microscope investigation (cytogenetic tests) has resulted in the evaluation of mitotic index and chromosomal aberration index that appeared diminished and respectively increased following the addition of magnetic nanoparticles in the culture medium of the young seedlings. Zinc ferrite toxic influence appeared to be higher than that of magnetite, according to both cytogenetic parameters.

CYTOGENETIC STUDIES IN MICE TREATED WITH THE JET FUELS, JET-A AND JP-8

Science.gov (United States)

Cytogenetic studies in mice treated with the jet fuels, Jet-A and JP-8AbstractThe genotoxic potential of the jet fuels, Jet-A and JP-8, were examined in mice treated on the skin with a single dose of 240 ug/mouse. Peripheral blood smears were prepared at the start of the ...

Prolonged treatment with imatinib mesylate in patients with advanced chronic myeloid leukemia causes a reduction of bcr/abl mRNA levels independent of cytogenetic response.

Science.gov (United States)

Cariani, E; Capucci, M; Micheletti, M; Spalenza, F; Zanella, I; Albertini, A; Rossi, G

2003-06-01

Bcr/abl mRNA levels were monitored in 13 patients with chronic myeloid leukemia receiving imatinib mesylate over a period of 78 weeks. During treatment median bcr/abl mRNA levels progressively declined from 77.2 normalized dose (nD) at baseline to 11.28 nD after 13 weeks ( P<0.05) and to 1.28 nD after 78 weeks ( P<0.05). After 13 weeks, bcr/abl mRNA levels were significantly lower in cytogenetic responders compared to nonresponders ( P<0.05), but subsequent decrease in the transcript levels caused the loss of any correlation to the cytogenetic status. These results suggest that bcr/abl mRNA levels may reflect cytogenetic response only during the early phases of imatinib therapy.

Usefulness of BCOR gene mutation as a prognostic factor in acute myeloid leukemia with intermediate cytogenetic prognosis.

Science.gov (United States)

Terada, Kazuki; Yamaguchi, Hiroki; Ueki, Toshimitsu; Usuki, Kensuke; Kobayashi, Yutaka; Tajika, Kenji; Gomi, Seiji; Kurosawa, Saiko; Saito, Riho; Furuta, Yutaka; Miyadera, Keiki; Tokura, Taichiro; Marumo, Atushi; Omori, Ikuko; Sakaguchi, Masahiro; Fujiwara, Yusuke; Yui, Shunsuke; Ryotokuji, Takeshi; Arai, Kunihito; Kitano, Tomoaki; Wakita, Satoshi; Fukuda, Takahiro; Inokuchi, Koiti

2018-04-16

BCOR gene is a transcription regulatory factor that plays an essential role in normal hematopoiesis. The wider introduction of next-generation sequencing technology has led to reports in recent years of mutations in the BCOR gene in acute myeloid leukemia (AML), but the related clinical characteristics and prognosis are not sufficiently understood. We investigated the clinical characteristics and prognosis of 377 de novo AML cases with BCOR or BCORL1 mutation. BCOR or BCORL1 gene mutations were found in 28 cases (7.4%). Among cases aged 65 years or below that were also FLT3-ITD-negative and in the intermediate cytogenetic prognosis group, BCOR or BCORL1 gene mutations were observed in 11% of cases (12 of 111 cases), and this group had significantly lower 5-year overall survival (OS) (13.6% vs. 55.0%, P=0.0021) and relapse-free survival (RFS) (14.3% vs. 44.5%, P=0.0168) compared to cases without BCOR or BCORL1 gene mutations. Multivariate analysis demonstrated that BCOR mutations were an independent unfavorable prognostic factor (P=0.0038, P=0.0463) for both OS and RFS. In cases of AML that are FLT3-ITD-negative, aged 65 years or below, and in the intermediate cytogenetic prognosis group, which are considered to have relatively favorable prognosis, BCOR gene mutations appear to be an important prognostic factor. This article is protected by copyright. All rights reserved. © 2018 Wiley Periodicals, Inc.

Cytogenetic changes induced by aqueous ferrofluids in agricultural plants

Energy Technology Data Exchange (ETDEWEB)

Racuciu, Mihaela [Faculty of Sciences, Lucian Blaga University, 10 Blvd. Victoriei, Sibiu 550012 (Romania)]. E-mail: mracuciu@yahoo.com; Creanga, Dorina [Faculty of Physics, Al. I. Cuza University, 11A Blvd.Copou, Iasi 700506 (Romania)

2007-04-15

In this paper, the authors present their results regarding the cellular division rate and the percentage of chromosomal aberrations in the root meristematic cells of agricultural plants when cultivated in the presence of different concentrations of aqueous ferrofluid, ranging between 10 and 250 {mu}L/L. The agricultural species (Zea mays) with a major role in the life of people was chosen for the experimental project. The water-based ferrofluid was prepared following the chemical co-precipitation method, using tetramethylammonium hydroxide as magnetite core stabilizer. Microscopic investigations (cytogenetic tests) resulted in the evaluation of the mitotic and chromosomal aberration index. They appeared to increase following ferrofluid addition.

Prognostic value of trisomy 8 as a single anomaly and the influence of additional cytogenetic aberrations in primary myelodysplastic syndromes.

Science.gov (United States)

Saumell, Sílvia; Florensa, Lourdes; Luño, Elisa; Sanzo, Carmen; Cañizo, Consuelo; Hernández, Jesus M; Cervera, José; Gallart, Miguel A; Carbonell, Félix; Collado, Rosa; Arenillas, Leonor; Pedro, Carme; Bargay, Joan; Nomdedeu, Benet; Xicoy, Blanca; Vallespí, Teresa; Raya, José M; Belloch, Luis; Sanz, Guillermo F; Solé, Francesc

2012-11-01

Trisomy 8 is the most common chromosomal gain in myelodysplastic syndromes (MDS), however, little is known about the features of MDS with isolated trisomy 8 and the influence of additional cytogenetic aberrations. We determined the characteristics and prognostic factors of 72 patients with trisomy 8 as a single anomaly and analysed also the impact of other aberrations added to trisomy 8 in another 62 patients. According to our study, MDS with isolated trisomy 8 was more frequent in men, with more than one cytopenia in most patients (62%) and having about 4% bone marrow blasts. The multivariate analysis demonstrated that platelet count and percentage bone marrow blasts had the strongest impact on overall survival (OS). The median OS for isolated trisomy 8, trisomy 8 plus one aberration (tr8 + 1), plus two (tr8 + 2) and plus three or more aberrations (tr8 + ≥3) was 34·3, 40, 23·4 and 5·8 months, respectively (P < 0·001). Trisomy 8 confers a poorer prognosis than a normal karyotype in MDS patients with ≥5% bone marrow blasts. This study supports the view that MDS with isolated trisomy 8 should be included in the intermediate cytogenetic risk group. © 2012 Blackwell Publishing Ltd.

110 Subfascial lipomatous tumors. MR and CT findings versus histopathological diagnosis and cytogenetic analysis

International Nuclear Information System (INIS)

Einarsdottir, H.; Soederlund, V.; Larsson, O.; Mandahl, N.; Bauer, H.C.F.

1999-01-01

Purpose: To evaluate whether liposarcoma, atypical lipomatous tumors and lipoma can be differentiated radiologically. Material and Methods: We have retrospectively analyzed CT and/or MR images of 110 subfascial lipomatous lesions. The amount of fat within the tumors was visually graded from the images as: none, 1-75%, 75-95% or 95-100%. The structure of non-fatty tumor components was compared. The images were compared to histopathology and in 37 cases to cytogenetic findings. Results: Only 4 of 20 liposarcomas contained fat. All 4 lesions, histopathologically diagnosed as atypical lipomatous tumors, contained fat but less than 75% of tumor volume. All lesions with more fat than 75% of tumor volume were histologically diagnosed as lipomas. However, one-third of the karyotyped lipomas had ring chromosomes which are considered typical for atypical lipomatous tumors. Conclusion: When a tumor is composed more or less solely of fat, the diagnosis of a lipoma or atypical lipomatous tumor with a phenotype simulating a lipoma can be assumed. When the fat content is less than 75% of the tumor volume or non-fatty nodules are found, biopsies from different tumor components have to be performed to exclude malignancy. When no fat is found, imaging does not help in differentiating lipoma or liposarcoma from other soft tissue tumors. (orig.)

Cytogenetic evaluation of chromosomal disorders in Down Syndrome

International Nuclear Information System (INIS)

Shafik, H.M.

1987-01-01

Down Syndrome (DS) patients are at high risk to develop leukemia. They are also highly sensitive to the induction of chromosomal aberrations when their GO lymphocytes are irradiated in vitro. The objective of this study was to further investigate the differential radiosensitivity of DS lymphocytes at the different stages of the cell cycle, as damage to proliferating cells is more relevant to health problems than damage to non-dividing cells. In addition, the proliferation kinetics and stage of differentiation of circulating DS lymphocytes was studied in an attempt to understand the mechanism for the enhanced chromosomal radiosensitivity. Moreover, the x-ray induced specific chromosomal breakpoints were identified and correlated with the locations of oncogene and fragile sites in order to investigate cytogenetically the early stages of leukemogenesis

The first cytogenetic data on Strumigenys louisianae Roger, 1863 (Formicidae: Myrmicinae: Dacetini: the lowest chromosome number in the Hymenoptera of the neotropical region.

Directory of Open Access Journals (Sweden)

Ana Paula Alves-Silva

Full Text Available In the present study, the first cytogenetic data was obtained for the ant species Strumigenys louisianae, from a genus possessing no previous cytogenetic data for the Neotropical region. The chromosome number observed was 2n = 4, all possessing metacentric morphology. Blocks rich in GC base pairs were observed in the interstitial region of the short arm of the largest chromosome pair, which may indicate that this region corresponds to the NORs. The referred species presented the lowest chromosome number observed for the subfamily Myrmicinae and for the Hymenoptera found in the Neotropical region. Observation of a low chromosome number karyotype has been described in Myrmecia croslandi, in which the occurrence of tandem fusions accounts for the most probable rearrangement for its formation. The accumulation of cytogenetic data may carry crucial information to ensure deeper understanding of the systematics of the tribe Dacetini.

Cytogenetic analysis of the neotropical spider Nephilengys cruentata (Araneomorphae, tetragnathidae: standard staining, NORs, C-bands and base-specific fluorochromes

Directory of Open Access Journals (Sweden)

D. Araújo

Full Text Available The aim of this work is to characterize Nephilengys cruentata in relation to the diploid number, chromosome morphology, type of sex determination chromosome system, chromosomes bearing the Nucleolar Organizer Regions (NORs, C-banding pattern, and AT or GC repetitive sequences. The chromosome preparations were submitted to standard staining (Giemsa, NOR silver impregnation, C-banding technique, and base-specific fluorochrome staining. The analysis of the cells showed 2n = 24 and 2n = 26 chromosomes in the embryos, and 2n = 26 in the ovarian cells, being all the chromosomes acrocentric. The long arm of the pairs 1, 2 and 3 showed an extensive negative heteropycnotic area when the mitotic metaphases were stained with Giemsa. The sexual chromosomes did not show differential characteristics that allowed to distinguish them from the other chromosomes of the complement. Considering the diploid numbers found in N. cruentata and the prevalence of X1X2 sex determination chromosome system in Tetragnathidae, N. cruentata seems to possess 2n = 24 = 22 + X1X2 in the males, and 2n = 26 = 22 + X1X1X2X2 in the females. The pairs 1, 2 and 3 showed NORs which are coincident with the negative heteropycnotic patterns. Using the C-banding technique, the pericentromeric region of the chromosomes revealed small quantity or even absence of constitutive heterochromatin, differing of the C-banding pattern described in other species of spiders. In N. cruentata the fluorochromes DAPI/DA, DAPI/MM and CMA3/DA revealed that the constitutive heterochromatin is rich in AT bases and the NORs possess repetitive sequences of GC bases.

THE CYTOGENETIC EFFECTS WITH LEAD NITROGENOUS TREATMENT AT HELIANTHUS ANNUUS L. FAVORIT AND PR64A83 CULTIVARS

Directory of Open Access Journals (Sweden)

Felicia Vlad-Rusen

2007-08-01

Full Text Available The analysis of some cytogenetic parameters shows that the nitrogenous lead application on Favorit and PR64A83 cultivars of sunflower exercises a light mutagenic effect on the cells of the root apex. At same time an intensification of the frequency of the ana-telophases with aberration takes place, especially of those with bridges, with lagging chromosomes, but also of those with fragments, demonstrating the perturbatory action that this substance exercises on the division axle. The apparition of a great number of metaphases with displayed chromosomes proves the perturbation of well function to division axle, effect signalized especially at the Favorit cultivar.

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...

Cytogenetic method of determining effect of threshold values of anthropogenic factors on the plant and animal genome

International Nuclear Information System (INIS)

Arkhipchuk, V.V.; Romanenko, V.D.; Arkhipchuk, M.V.; Kipnis, L.S.

1993-01-01

The use of nucleolar characteristics to access the action of physical and chemical factors on living objects is a promising trend in the creation of new and highly sensitive biological tests. The advantages of this process are that the effect of the threshold values of the anthropogenic factors is recorded as a change in functional activity of the cell genome and not as the restructuring of the karyotype. The aim of this research was to test a cytogenetic method of determining the modifying action of various factors on the plant and animal genome, based on analysis of quantitative characteristics of the nucleoli and to extend its use to different groups of organisms

How to identify partial exposures to ionizing radiation? Proposal for a cytogenetic method; Como identificar exposicoes parciais as radiacoes ionizantes? Proposta de um metodo citogenetico

Energy Technology Data Exchange (ETDEWEB)

Fernandes, T.S.; Silva, E.B.; Pinto, M.M.P.L.; Amaral, A., E-mail: thiagosalazar@hotmail.com [Universidade Federal de Pernambuco (LAMBDA/UFPE), Recife, PE (Brazil). Departamento de Energia Nuclear. Lab. de Modelagem e Biodosimetria Aplicada; Lloyd, David [Health Protection Agency, Oxford (United Kingdom). Radiation Protection Division

2013-08-15

In cases of radiological incidents or in occupational exposures to ionizing radiation, the majority of exposures are not related to the total body, but only partial. In this context, if the cytogenetic dosimetry is performed, there will be an underestimation of the absorbed dose due to the dilution of irradiated cells with non-irradiated cells. Considering the norms of NR 32 - Safety and Health in the Work of Health Service - which recommends cytogenetic dosimetry in the investigation of accidental exposures to ionizing radiations, it is necessary to develop of a tool to provide a better identification of partial exposures. With this aim, a partial body exposure was simulated by mixing, in vitro, 70% of blood irradiated with 4 Gy of X-rays with 30% of unirradiated blood from the same healthy donor. Aliquots of this mixture were cultured for 48 and 72 hours. Prolonging the time of cell culture from 48 to 72 hours produced no significant change in the yield of dicentrics. However, when only M1 (first division cells) were analyzed, the frequency of dicentrics per cell was increased. Prolonging the time of cell culture allowed cells in mitotic delay by irradiation to reach metaphase, and thus provides enough time for the damage to be visualized. The results of this research present the proposed method as an important tool in the investigation of exposed individuals, allowing associating the cytogenetic analysis with the real percentage of irradiated cells, contributing significantly for the decision making in terms of occupational health. (author)

Cytogenetic Evolution in Myeloid Neoplasms at Relapse after Allogeneic Hematopoietic Cell Transplantation: Association with Previous Chemotherapy and Effect on Survival.

Science.gov (United States)

Ertz-Archambault, Natalie; Kosiorek, Heidi; Slack, James L; Lonzo, Melissa L; Greipp, Patricia T; Khera, Nandita; Kelemen, Katalin

2017-05-01

Cytogenetic evolution (CGE) in patients with myeloid neoplasms who relapsed after an allogeneic (allo) hematopoietic cell transplantation (HCT) has been evaluated by only few studies. The effect of the CGE on survival of relapsed allo-HCT recipients is not clear. The effect of previously received chemotherapy to induce CGE in this patient population has not been studied. The aims of our study are to (1) characterize the patterns of cytogenetic change in patients with myeloid neoplasms who relapsed after an allo-HCT, (2) evaluate the effect of CGE on survival, and (3) explore the association of CGE with previous chemotherapy (including the lines of salvage therapy, type of induction, and conditioning therapy). Of 49 patients with a myeloid malignancy (27 acute myeloid leukemia [AML], 19 myelodysplastic syndrome [MDS]/myeloproliferative neoplasm [MPN], and 3 chronic myelogenous leukemia) who relapsed after an allo-HCT, CGE was observed in 25 (51%), whereas 24 patients had unchanged cytogenetic findings at relapse. The CGE group carried more cytogenetic abnormalities at original diagnosis. The most frequent cytogenetic change was the acquisition of 3 or more new chromosomal abnormalities followed by acquisition of unbalanced abnormalities, aneuploidy, and emergence of apparently new clones unrelated to the original clone. The CGE cohort had higher proportion of MDS and MPN and fewer patients with de novo AML. Disease risk assessment category showed a trend to higher frequency of high-risk patients in the CGE group, though the difference was not statistically significant. Time from diagnosis to transplantation and time from transplantation to relapse were not different between the CGE and non-CGE groups. CGE and non-CGE cohorts had similar exposures to salvage therapy and to induction chemotherapy, as well as similar conditioning regimens; thus, no particular type of chemotherapy emerged as a predisposing factor to CGE. CGE was associated with significantly shortened

Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact.

Science.gov (United States)

Bacher, Ulrike; Haferlach, Torsten; Schnittger, Susanne; Zenger, Melanie; Meggendorfer, Manja; Jeromin, Sabine; Roller, Andreas; Grossmann, Vera; Krauth, Maria-Theresa; Alpermann, Tamara; Kern, Wolfgang; Haferlach, Claudia

2014-03-01

In patients with myelodysplastic syndromes (MDS), sole 20q deletion [del(20q)] is a recurrent favourable abnormality. We studied additional molecular and cytogenetic lesions and their prognostic impact in 305 MDS patients with del(20q) (229 males/76 females; 29-90 years). All patients were investigated by cytomorphology and chromosome banding analysis (CBA), subsets by fluorescence in situ hybridization, molecular mutation screening, and array comparative genomic hybridization (aCGH). By aCGH (n = 30), the minimal common deleted region (CDR) was flanked by PTPRT (20q13·11) and EYA2 (20q13·12). 210 (68·9%) patients had 'early MDS' without blast increase, 95 (31·1%) 'advanced' MDS with blast increase (5-19%). Additional chromosomal abnormalities (ACAs) were detected in 88/305 (28·9%) patients. Patients with advanced MDS more frequently had ACAs (P = 0·003) and had a higher mean number of ACAs (P = 0·020) and of molecular mutations (P = 0·060). Spliceosome mutations were frequent (U2AF1: n = 31/155; 20·0%; SRSF2: n = 31/159; 19·5%; SF3B1mut: n = 8/159; 5·0%). ASXL1mut (25/153; 16·3%) were associated with advanced MDS (P = 0·001). Presence of ≥3 ACAs (P = 0·003) and ASXL1mut (P = 0·002) were associated with worse 2-year survival. In conclusion, the cytogenetic subgroup of MDS with del(20q) has a good prognosis but may be further subclassified by additional cytogenetic and molecular lesions. U2AF1mut is overrepresented in MDS with del(20q), and ASXL1mut is prognostically adverse. © 2013 John Wiley & Sons Ltd.

Incorporating Experience Curves in Appliance Standards Analysis

Energy Technology Data Exchange (ETDEWEB)

Garbesi, Karina; Chan, Peter; Greenblatt, Jeffery; Kantner, Colleen; Lekov, Alex; Meyers, Stephen; Rosenquist, Gregory; Buskirk, Robert Van; Yang, Hung-Chia; Desroches, Louis-Benoit

2011-10-31

The technical analyses in support of U.S. energy conservation standards for residential appliances and commercial equipment have typically assumed that manufacturing costs and retail prices remain constant during the projected 30-year analysis period. There is, however, considerable evidence that this assumption does not reflect real market prices. Costs and prices generally fall in relation to cumulative production, a phenomenon known as experience and modeled by a fairly robust empirical experience curve. Using price data from the Bureau of Labor Statistics, and shipment data obtained as part of the standards analysis process, we present U.S. experience curves for room air conditioners, clothes dryers, central air conditioners, furnaces, and refrigerators and freezers. These allow us to develop more representative appliance price projections than the assumption-based approach of constant prices. These experience curves were incorporated into recent energy conservation standards for these products. The impact on the national modeling can be significant, often increasing the net present value of potential standard levels in the analysis. In some cases a previously cost-negative potential standard level demonstrates a benefit when incorporating experience. These results imply that past energy conservation standards analyses may have undervalued the economic benefits of potential standard levels.

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

Directory of Open Access Journals (Sweden)

Alessandra Pawelec da Silva

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

Cytogenetic studies in femalie X-ray assistants with menstrual disturbances

International Nuclear Information System (INIS)

Marinova, G.; Dimcheva, M.; Kincheva, V.

1976-01-01

Cytogenetic analyses were performed in thirty, otherwise genitally and extragenitally unaffected, female X-ray assistants with menstrual disturbances (oligomenorrhea, secondary amenorrhea, irregular bleedings, hypermenorrhea) developing in the course of occupational experience under intermittent, chronic, low-level exposure conditions, the dose accumulated remaining below the maximum permissible dose. Seventeen of these subjects showed changes in chromosome constitution, namely: aneuploidy, up to 34,2%; breaks, 2 - 14,3%; gaps, 5,6 - 16,7;; and dicentrics, in one case, 2,8%. Increase in occupational experience was found to be associated with increase in percentage of menstrual disturbances and in chromosome aberrations. (author)

Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases.

Science.gov (United States)

Reilly, J T; Snowden, J A; Spearing, R L; Fitzgerald, P M; Jones, N; Watmore, A; Potter, A

1997-07-01

The prognostic significance of cytogenetic abnormalities was determined in 106 patients with well-characterized idiopathic myelofibrosis who were successfully karyotyped at diagnosis. 35% of the cases exhibited a clonal abnormality (37/106), whereas 65% (69/106) had a normal karyotype. Three characteristic defects, namely del(13q) (nine cases), del(20q) (eight cases) and partial trisomy 1q (seven cases), were present in 64.8% (24/37) of patients with clonal abnormalities. Kaplan-Meier plots and log rank analysis demonstrated an abnormal karyotype to be an adverse prognostic variable (P 10.3 x 10(9)/l; P=0.06) were also associated with a shorter survival. In contrast, sex, spleen and liver size, and percentage blast cells were not found to be significant. Multivariate analysis, using Cox's regression, revealed karyotype, haemoglobin concentration, platelet and leucocyte counts to retain their unfavourable prognostic significance. A simple and useful schema for predicting survival in idiopathic myelofibrosis has been produced by combining age, haemoglobin concentration and karyotype with median survival times varying from 180 months (good-risk group) to 16 months (poor-risk group).

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.)

Cytogenetic characterization of Partamona cupira (Hymenoptera, Apidae by fluorochromes

Directory of Open Access Journals (Sweden)

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.

Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup.

Science.gov (United States)

Ciabatti, Elena; Valetto, Angelo; Bertini, Veronica; Ferreri, Maria Immacolata; Guazzelli, Alice; Grassi, Susanna; Guerrini, Francesca; Petrini, Iacopo; Metelli, Maria Rita; Caligo, Maria Adelaide; Rossi, Simona; Galimberti, Sara

2017-10-03

In this study we present a new diagnostic workup for the myelodysplastic syndromes (MDS) including FISH, aCGH, and somatic mutation assays in addition to the conventional cytogenetics (CC). We analyzed 61 patients by CC, FISH for chromosome 5, 7, 8 and PDGFR rearrangements, aCGH, and PCR for ASXL1, EZH2, TP53, TET2, RUNX1, DNMT3A, SF3B1 somatic mutations. Moreover, we quantified WT1 and RPS14 gene expression levels, in order to find their possible adjunctive value and their possible clinical impact. CC analysis showed 32% of patients with at least one aberration. FISH analysis detected chromosomal aberrations in 24% of patients and recovered 5 cases (13.5%) at normal karyotype (two 5q- syndromes, one del(7) case, two cases with PDGFR rearrangement). The aGCH detected 10 "new" unbalanced cases in respect of the CC, including one with alteration of the ETV6 gene. After mutational analysis, 33 patients (54%) presented at least one mutation and represented the only marker of clonality in 36% of all patients. The statistical analysis confirmed the prognostic role of CC either on overall or on progression-free-survival. In addition, deletions detected by aCGH and WT1 over-expression negatively conditioned survival. In conclusion, our work showed that 1) the addition of FISH (at least for chr. 5 and 7) can improve the definition of the risk score; 2) mutational analysis, especially for the TP53 and SF3B1, could better define the type of MDS and represent a "clinical warning"; 3) the aCGH use could be probably applied to selected cases (with suboptimal response or failure).

Cytogenetic survey results in children and teens who sit in the area of Chernobyl

International Nuclear Information System (INIS)

Montoro, A.; Sebastia, N.; Barquinero, J. F.; Soriano, J. M.; Almonacid, M.; Alonso, O.; Cervera, J.; Such, E.; Sila, M. A.; Ibanez, M.; Arnal, C.; Villaescusa, J. I.

2012-01-01

The biological effects are analyzed cytogenetic abnormalities (chromosomal) produced in peripheral blood lymphocytes. The study was conducted in 55 children from Ukraine and residing in areas affected by the Chernobyl nuclear accident. Blood samples were taken after the signing of informed consent by parents guardians and cultured following the technical protocol of the IAEA (2001) for studies of biological dosimetry.

Cytogenetic biomonitoring carried out in a village (Dolon) adjacent to the Semipalatinsk nuclear weapon test site.

Science.gov (United States)

Testa, A; Stronati, L; Ranaldi, R; Spanò, M; Steinhäusler, F; Gastberger, M; Hubmer, A; Ptitskaya, L; Akhmetov, M

2001-06-01

The Semipalatinsk region (Kazakhstan Republic) has been affected by extensive radioactive contamination due to more than 450 nuclear tests of which almost 100 were exploded in the atmosphere. The present results refer to cytogenetic assessments in a study cohort of the population of Dolon, a settlement located on the NE boundary of the nuclear weapon test site, which was exposed to elevated doses of ionising radiation primarily due to the first Soviet nuclear test in 1949. Conventional cytogenetic analyses were carried out on 21 blood samples from individuals (more than 50 years old) living in Dolon since the very beginning of nuclear testing. A matched control group included 20 individuals living in non-contaminated areas. Higher frequencies of chromosome aberrations were found in the Dolon cohort compared to the control group, even though they remain within the range of the background levels reported for large normal human population studies on elderly individuals.

Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.

Science.gov (United States)

Dong, Zirui; Wang, Huilin; Chen, Haixiao; Jiang, Hui; Yuan, Jianying; Yang, Zhenjun; Wang, Wen-Jing; Xu, Fengping; Guo, Xiaosen; Cao, Ye; Zhu, Zhenzhen; Geng, Chunyu; Cheung, Wan Chee; Kwok, Yvonne K; Yang, Huanming; Leung, Tak Yeung; Morton, Cynthia C; Cheung, Sau Wai; Choy, Kwong Wai

2017-11-02

PurposeRecent studies demonstrate that whole-genome sequencing enables detection of cryptic rearrangements in apparently balanced chromosomal rearrangements (also known as balanced chromosomal abnormalities, BCAs) previously identified by conventional cytogenetic methods. We aimed to assess our analytical tool for detecting BCAs in the 1000 Genomes Project without knowing which bands were affected.MethodsThe 1000 Genomes Project provides an unprecedented integrated map of structural variants in phenotypically normal subjects, but there is no information on potential inclusion of subjects with apparent BCAs akin to those traditionally detected in diagnostic cytogenetics laboratories. We applied our analytical tool to 1,166 genomes from the 1000 Genomes Project with sufficient physical coverage (8.25-fold).ResultsWith this approach, we detected four reciprocal balanced translocations and four inversions, ranging in size from 57.9 kb to 13.3 Mb, all of which were confirmed by cytogenetic methods and polymerase chain reaction studies. One of these DNAs has a subtle translocation that is not readily identified by chromosome analysis because of the similarity of the banding patterns and size of exchanged segments, and another results in disruption of all transcripts of an OMIM gene.ConclusionOur study demonstrates the extension of utilizing low-pass whole-genome sequencing for unbiased detection of BCAs including translocations and inversions previously unknown in the 1000 Genomes Project.GENETICS in MEDICINE advance online publication, 2 November 2017; doi:10.1038/gim.2017.170.

Evaluation of clinical and cytogenetic parameters in rheumatoid arthritis patients for effective diagnosis.

Science.gov (United States)

Chandirasekar, R; Kumar, B Lakshman; Jayakumar, R; Uthayakumar, V; Jacob, Raichel; Sasikala, K

2015-01-15

Rheumatoid arthritis is the commonest inflammatory joint disease, affecting nearly 1% of the adult population worldwide. Early and accurate diagnosis and prognosis of rheumatoid arthritis (RA) have become increasingly important. In the present study, we aimed to elucidate the relationships between hematological, biochemical, immunological and cytogenetic parameters in rheumatoid arthritis patients and healthy normal controls. The study group comprised of 126 RA patients and equal number of healthy normal control subjects. The blood was collected and analyzed for biochemical, immunological, enzymatic and cytogenetic parameters. Results of the present study indicated that 20% of RA patient's hematological, 31% of biochemical and 70% immunological parameters had a significant difference from the controls and reference range. The RF and anti-CCP antibody levels were also positive in 70% of RA patients. A significant increase in minor chromosomal abnormalities was also observed in patients as compared to controls. The knowledge about autoimmune diseases is very low among the South Indian population. The present study has thus helped in understanding the RA disease in a better way based on a pattern of various clinical markers of the disease condition which might help in planning therapeutic intervention strategies and create awareness about the disease management among RA patients of the population studied. Copyright © 2014. Published by Elsevier B.V.

Quince tree (cydonia oblonga Mill.)-breeding bases:seed propagation, cytogenetics and radiosensitivity

International Nuclear Information System (INIS)

Dall'Orto, F.A.C.

1982-01-01

The following aspects of the marmeleiro, cydonia oblonga Mill., were, researched: media nad periods to supply the seed chilling requirement in moist cold storage (5-10 0 c); quince seeds viability prepared by several extraction processes; seed germination and seedling development; cytogenetic aspects; seeds viability influenced by storage conditions and periods of time for storage; preliminary determination of seed radiosensitivity; concentrations of some macro and micronutrients in quince seedlings obtained from irradiated seeds, and radiosensitivity and interphasic nuclear volumes. (MAC) [pt

Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications

Energy Technology Data Exchange (ETDEWEB)

Leana-Cox, J. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Jenkins, L. (Kaiser Permanente Medical Group, San Jose, CA (United States)); Palmer, C.G.; Plattner, R. (Indiana School of Medicine, Indianapolis, IN (United States)); Sheppard, L. (Palo Verde Laboratory, Inc., Chandler, AZ (United States)); Flejter, W.L. (Univ. of Michigan, Ann Arbor, MI (United States)); Zackowski, J. (Univ. of Florida Health Science Center, Gainsville, FL (United States)); Tsien, F. (Tulane Univ. School of Medicine, New Orleans, LA (United States)); Schwartz, S. (Case Western Reserve Univ., Cleveland, OH (United States))

1994-05-01

Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P<.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype. 30 refs., 1 fig., 4 tabs.

Cytogenetic effects of weak and combined actions in plants in connection with a problem of ecological rating

International Nuclear Information System (INIS)

Geras'kin, S.A.; Dikarev, V.G.; Udalova, A.A.; Dikareva, N.S.; Vasil'ev, D.V.; Evseeva, T.I.

2002-01-01

It is compared sanitary-hygienic and ecological approaches to rating of ionizing radiation action. The features of formation of cytogenetic effects in plants in conditions of separate and combined with factors of other nature action of ionizing radiation low doses are considered. (author)

Cytogenetic and clinicobiological features of acute leukemia with stem cell phenotype: study of nine cases.

Science.gov (United States)

Cuneo, A; Ferrant, A; Michaux, J L; Bosly, A; Chatelain, B; Stul, M; Dal Cin, P; Dierlamm, J; Cassiman, J J; Hossfeld, D K; Castoldi, G; Van den Berghe, H

1996-11-01

Morphologic, immunologic, cytogenetic, and clinical features were studied in 9 cases of acute undifferentiated leukemia (AUL). These patients were unclassifiable by FAB criteria, they were CD34+ and did not express myeloid- or lymphoid-associated antigens (CD13, CD33, CD14, CD15, CD61, CD19, CD10, CD22, CD7, CD2, CD5, CD3). Clonal abnormalities were seen in 8 of 9 cases. Del(5q) as the sole anomaly was observed in 3 cases; +13 was the primary change in 3 cases, and isolated trisomy 12 was found in 1 patient. A complex karyotype with trisomy 12q, in association with del 17p and trisomy 21q was detected in 1 case. One patient with 5q- relapsed with refractory anemia with excess of blasts; the presence of dysgranulopoiesis and a few blasts with possible monocytoid morphology in the remaining 2 patients point to a "myeloid nature" of these leukemias. Analysis of cytologic features in our 3 patients with +13, in combination with previously reported cases, suggests the occurrence of immature stem cell involvement with limited differentiation potential, possibly more along the myeloid than the lymphoid lineage. The significance of trisomy 12q in this subset of leukemia remains elusive; some clues of minimal differentiation towards the myeloid lineage in our cases are provided by positivity for the CD117 (c-kit) antigen and by relapse with acute myeloid leukemia without maturation (M1) in one patient. We conclude that, with presently available diagnostic techniques, AUL is a rare subset of leukemia, in which cytogenetic changes are confined to a few chromosomes, with prevalent involvement of 5q and of chromosomes 13 and 12. Chromosome findings may be of value in clinical practice, especially in those cases with "myeloid-oriented" karyotype.

Subsidies to cytogenetic dosimetry technique generated from analysis of results of Goiania radiological accident

International Nuclear Information System (INIS)

Ramalho, Adriana Teixeira

1993-06-01

Following the Goiania radiation accident, which occurred in September of 1987, peripheral lymphocytes from 129 exposed or potentially exposed individuals were analyzed for the frequency of unstable chromosomal aberrations (dicentrics and centric rings) to estimate absorbed radiation dose. During the emergency period, the doses were assessed to help immediate medical treatment. After this initial estimation, doses were reassessed using in vitro calibration curves produced after the accident, more suitable for the conditions prevailing in Goiania. Dose estimates for 24 subjects exceeded 0,5 Gy. Among those, 15 individuals exceeded 1,0 Gy and 5 exceeded 3,0 Gy. None of the estimates exceeded 6,0 Gy. Four of the subjects died. During the emergency period, a cytogenetic follow-up of 14 of the exposed patients was started, aiming to observe the mean lifetime of lymphocytes containing dicentric and ring aberrations. The results suggest that for the highly exposed individuals the disappearance rate of unstable aberrations follows a two- term exponential function. Up to 470 days after the exposure, there is a rapid fall in the aberration frequency. After 470 days, the disappearance rate is very slow, almost constant. The estimated average half-time of elimination of dicentrics and rings among the highly exposed group (> 1 Gy) was 140 days for the initial period after the exposure (up to 470 days). This value is significantly shorter than the usually accepted value of 3 years reported in the literature. Mean disappearance functions of unstable chromosome aberrations were inferred, to be applied in accident situations in which there is a blood sampling delay. Statistical analysis of possible correlations between the individual half-times and biological parameters, such as sex, age, leukopenia level shown during the critical period, absorbed dose (initial frequency of chromosomal aberrations) and the administration of the bone marrow stimulating factor (rHuGM-CSF) was

Cytogenetics observation and radiation influence evaluation of exposed persons in a discontinuous radiation exposure event

International Nuclear Information System (INIS)

Chen Ying; Liu Xiulin; Yang Guoshan; Ge Shili; Jin Cuizhen; Yao Bo

2003-01-01

The cytogenetics results and dose estimation of exposed and related persons in an discontinuous radiation exposure event were reported in this paper. According to dicentrics + ring and micronucleus results combined with clinical data, slight (middle) degree of subacute radiation symptom of the victim was diagnosed. A part of 52 examined persons were exposed to radiation in a certain degree

Standardizing Activation Analysis: New Software for Photon Activation Analysis

Science.gov (United States)

Sun, Z. J.; Wells, D.; Segebade, C.; Green, J.

2011-06-01

Photon Activation Analysis (PAA) of environmental, archaeological and industrial samples requires extensive data analysis that is susceptible to error. For the purpose of saving time, manpower and minimizing error, a computer program was designed, built and implemented using SQL, Access 2007 and asp.net technology to automate this process. Based on the peak information of the spectrum and assisted by its PAA library, the program automatically identifies elements in the samples and calculates their concentrations and respective uncertainties. The software also could be operated in browser/server mode, which gives the possibility to use it anywhere the internet is accessible. By switching the nuclide library and the related formula behind, the new software can be easily expanded to neutron activation analysis (NAA), charged particle activation analysis (CPAA) or proton-induced X-ray emission (PIXE). Implementation of this would standardize the analysis of nuclear activation data. Results from this software were compared to standard PAA analysis with excellent agreement. With minimum input from the user, the software has proven to be fast, user-friendly and reliable.

Standardizing Activation Analysis: New Software for Photon Activation Analysis

International Nuclear Information System (INIS)

Sun, Z. J.; Wells, D.; Green, J.; Segebade, C.

2011-01-01

Photon Activation Analysis (PAA) of environmental, archaeological and industrial samples requires extensive data analysis that is susceptible to error. For the purpose of saving time, manpower and minimizing error, a computer program was designed, built and implemented using SQL, Access 2007 and asp.net technology to automate this process. Based on the peak information of the spectrum and assisted by its PAA library, the program automatically identifies elements in the samples and calculates their concentrations and respective uncertainties. The software also could be operated in browser/server mode, which gives the possibility to use it anywhere the internet is accessible. By switching the nuclide library and the related formula behind, the new software can be easily expanded to neutron activation analysis (NAA), charged particle activation analysis (CPAA) or proton-induced X-ray emission (PIXE). Implementation of this would standardize the analysis of nuclear activation data. Results from this software were compared to standard PAA analysis with excellent agreement. With minimum input from the user, the software has proven to be fast, user-friendly and reliable.

Multielement analysis of biological standards by neutron activation analysis

International Nuclear Information System (INIS)

Nadkarni, R.A.

1977-01-01

Up to 28 elements were determined in two IAEA standards: Animal Muscle H4 and Fish Soluble A 6/74, and three NBS standards: Spinach: SRM-1570, Tomato Leaves: SRM-1573 and Pine Needles: SRM-1575 by instrumental neutron-activation analysis. Seven noble metals were determined in two NBS standards: Coal: SRM-1632 and Coal Fly Ash: SRM-1633 by radiochemical procedure while 11 rare earth elements were determined in NBS standard Orchard Leaves: SRM-1571 by instrumental neutron-activation analysis. The results are in good agreement with the certified and/or literature data where available. The irradiations were performed at the Cornell TRIGA Mark II nuclear reactor at a thermal neutron flux of 1-3x10 12 ncm -2 sec -1 . The short-lived species were determined after a 2-minute irradiation in the pneumatic rabbit tube, and the longer-lived species after an 8-hour irradiation in the central thimble facility. The standards and samples were counted on coaxial 56-cm 3 Ge(Li) detector. The system resolution was 1.96 keV (FWHM) with a peak to Compton ratio of 37:1 and counting efficiency of 13%, all compared to the 1.332 MeV photopeak of Co-60. (T.I.)

Comparison of new nitrosoureas esters with modified steroidal nucleus for cytogenetic and antineoplastic activity.

Science.gov (United States)

Hussein, A; Mioglou-Kalouptsi, E; Papageorgiou, A; Karapidaki, I; Iakovidou-Kritsi, Z; Lialiaris, T; Xrysogelou, E; Camoutsis, C; Mourelatos, D

2007-01-01

Nitrosourea is decomposed under physiological conditions to react with biological macromolecules by two mechanisms: alkylation (with proteins and nucleic acids) and carbamoylation (with proteins but not nucleic acids). It has been suggested that the alkylating action is responsible for the therapeutic effects of nitrosoureas, and that the carbamoylation activity leads to toxicity effects. In order to reduce systemic toxicity and improve specificity and distribution for cancer therapy, 2-haloethyl nitrosourea has been esterified with modified steroids, which are used as biological platforms for transporting the alkylating agent to the tumor site in a specific manner. The cytogenetic and antineoplastic effect were studied of seven newly synthesized esters of N,N-bis(2-chloroethyl)alanyl carboxyl derivatives with a modified steroidal nucleus (compounds 1-7). As a very sensitive indicator of genotoxicity the Sister Chromatid Exchange (SCE) assay was used and as a valuable marker of cytostatic activity the cell Proliferation Rate Index (PRI) in cultures of normal human lymphocytes was used. The order of magnitude of the cytogenetic activity on a molar basis (15, 30, 120 microM) of the compounds was 7>6>3>5>2>4>1. The most active compound 7 has an enlarged (seven carbon atoms) A ring modified with a lactam group (-NHCO-) with the nitrosourea moiety esterified at position 17 In the group of seven substances a correlation was observed between the magnitude of SCE response and the depression in PRI (r=-O, 65, p6>2>5>4>3>1 and on lympocytic P388 leukemia cells is 7>2>6>5>4>3>1. The present results are in agreement with previous suggestions that the effectiveness in cytogenetic activity may well be correlated with antitumor effects [T/C: 248% for the compound 7 in 250 mg/kg b.w.; T/C: mean survival time of drug-treated animals (T) (excluding long term survivals) vs. corn-oil-treated controls (C)].

Role of cytogenetic biodosimetry in meeting the needs of a mass casualty radiological/nuclear event

International Nuclear Information System (INIS)

Balajee, A.S.; Dainiak, N.

2016-01-01

Radiological/nuclear (R/N) terrorism constitutes a potential threat to all nations that can result in significant morbidity and mortality among hundreds of thousands individuals. In addition to the timing and severity of clinical signs and symptoms, individual radiation dose informs risk assessment and mitigation of radiation-associated injuries. The 'gold standard' for individual whole-body radiation dosimetry is the dicentric chromosome assay. The Cytogenetics Biodosimetry Laboratory at REAC/TS is a WHO Collaborating Centre and member of IAEA's RANET that employs DCA, as well as fluorescence in situ hybridization, premature chromosome condensation, and micronuclei assays to assess radiation dose. The quality of dose estimates and standard operating procedures for DCA at REAC/TS have been validated in multiple inter-comparison studies involving CBLs in Asia, Europe, North America and South America. DCA is scalable to meet the needs of a mass casualty R/N incident. The CBL at REAC/TS has made seminal contributions to augment surge capacity for DCA and develop CBLs worldwide through initiatives such as modification of 'Share Point' in 2010 to transmit images of metaphases for simultaneous telescoring; (2) development of an on-line training program for metaphase scoring; (3) proactive participation as a WCC to create ISO standards; and (4) guidance of regulatory agencies to monitor quality of results and SOPs. The precision of dose estimates by DCA can be vastly improved by using a universal calibration curve. With this view, REAC/TS has organized a collaboration with CBLs at Health Canada and Yale University to construct and validate a common calibration curve for gamma rays

Telomere dynamics and cytogenetic changes in human hematologic neoplasias: a working hypothesis.

Science.gov (United States)

Ohyashiki, K; Ohyashiki, J H

1997-03-01

Chromosome termini, termed telomeres, provide important protection to avoid loss of master gene(s) that may exist at subtelomeric regions. Moreover, erosion of telomeres by cell division through end-replication problems resulted in telomeric-associated cytogenetic aberrations. To maintain a telomere length related to cell immortality, telomerase activity is upregulated in cancer cells, therefore, telomerase is considered to be a new marker of neoplasias. In this paper, we review and make suggestions regarding key aspects of telomere dynamics in both normal hematopoiesis and in malignant hematologic diseases.

Analysis of standard substance human hair

International Nuclear Information System (INIS)

Zou Shuyun; Zhang Yongbao

2005-01-01

The human hair samples as standard substances were analyzed by the neutron activation analysis (NAA) on the miniature neutron source reactor. 19 elements, i.e. Al, As, Ba, Br, Ca, Cl, Cr, Co, Cu, Fe, Hg, I, Mg, Mn, Na, S, Se, V and Zn, were measured. The average content, standard deviation, relative standard deviation and the detection limit under the present research conditions were given for each element, and the results showed that the measured values of the samples were in agreement with the recommended values, which indicated that NAA can be used to analyze standard substance human hair with a relatively high accuracy. (authors)

Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

Directory of Open Access Journals (Sweden)

Fang Jye-Siung

2011-02-01

Full Text Available Abstract Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7. Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding. Interpretation This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

CITOGENÉTICA COMO HERRAMIENTA TAXONÓMICA EN PECES I CYTOGENETICS AS A TAXONOMIC TOOL IN FISH

Directory of Open Access Journals (Sweden)

Mauro Nircho

2018-04-01

Full Text Available This document presents a general overview on the basic and molecular techniques more commonly employed for the study of chromosomes in fi shes, with examples that demonstrate the usefulness of cytogenetics to resolve taxonomic problems, particularly when meristic or morphometric characteristic do not result in a clear differentiation between species.

RBEs and cytogenetic hereditary effects induced by neutron beams in mice

International Nuclear Information System (INIS)

Du Zeji; Li Yanyi; Liu Degui

1994-01-01

The RBEs and cytogenetic hereditary effects of different dose of neutron beams on chromosome aberrations and micronuclei of bone marrow cells in mice were observed. The results indicated that micronuclei frequency of occurrence and chromosome aberration frequency caused by neutrons increased with doses. The relationship was feasible to Y aD n . The lower energy of neutrons had the smaller value of RBE. RBE determined by CSACR were larger than that by MNCF. RBEs decreased with increasing of neutron doses, especially within the low range of doses. There was a linear relationship between CSACR and MNCF caused by neutron beams and γ-ray

Evidence of separate karyotype evolutionary pathway in Euglossa orchid bees by cytogenetic analyses

OpenAIRE

FERNANDES, ANDERSON; WERNECK, HUGO A.; POMPOLO, SILVIA G.; LOPES, DENILCE M.

2013-01-01

Euglossini are solitary bees considered important pollinators of many orchid species. Information regarding chromosome organization is available for only a small number of species in this group. In the present work, the species Euglossa townsendi and E. carolina were analyzed by cytogenetic techniques to collect information that may aid the understanding of their evolution and chromosomal organization. The chromosome number found was n = 21 for males and 2n = 42 for females in the two species...

Detection of clonal aberrations by cytogenetic analysis after different culture methods and by FISH in 129 patients with Chronic Lymphocytic Leukemia.

Science.gov (United States)

Jenderny, Jutta; Goldmann, Claudia; Thede, Rebekka; Ebrecht, Monika; Korioth, Frank

2014-01-01

There are only a few cytogenetic analysis (CA) studies that directly compare the novel cultivation technique using immunostimulatory CpG-oligonucleotide DSP30/interleukin-2 (DSP30/IL2) with other culture methods. Therefore, parallel cultures of peripheral blood of 129 chronic lymphocytic leukemia (CLL) patients were set up in unstimulated cultures, in the presence of pokeweed medium (PWM), and with DSP30/IL2. Furthermore, CA results were compared with data obtained by FISH. Clonal aberrations were observed by CA in 6% of the cases in unstimulated cultures, in 27% of the cases with PWM, and in 40% of the cases with DSP30/IL2. Some clonal aberrations were detected by CA only with one culture method. Using 3 different culture methods, clonal aberrations were detected in 41% of the cases by CA and in 71% of the cases by FISH. Altogether, 78% of the cases exhibited clonal aberrations discovered by CA and FISH. Also, CA detected clonal aberrations not targeted by FISH in 7% of the cases, and FISH identified clonal aberrations not detected by CA in 36% of the cases. Our study demonstrates that the combined use of CA with different culture methods together with FISH increases our knowledge of the genetic complexity and heterogeneity in CLL pathogenesis. © 2014 S. Karger AG, Basel.

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.

Micropropagation and cytogenetic assessment of Zingiber species of Northeast India.

Science.gov (United States)

Das, Archana; Kesari, Vigya; Rangan, Latha

2013-12-01

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

Cytogenetic effects study of in vitro irradiation in peripheral blood lymphocytes of persons working with ionizing radiation

International Nuclear Information System (INIS)

Hadzhidekova, V.; Benova, D.; Bulanova, M.

1998-01-01

The genome radiosensitivity of persons working in the NPP 'Kozloduy', as well as controls are studied. An indicator of genome radiosensitivity is the chromosomal damage induced by in vitro irradiation. A cytogenetic analysis of peripheral blood lymphocytes before and after in vitro irradiation with a dose of 1.5 Gy gamma rays is carried out. The frequency of chromosomal aberrations and micronuclei before and after the irradiation is scored. In certain cases the technique of fluorescent in situ hybridization for recording stable chromosome rearrangements is applied. The data obtained show a decreased chromosome radiosensitivity in occupationally engaged persons as compared to low doses, over a long period of time, may induce the so called 'adaptive response' which makes cells more resistant of subsequent in vitro irradiation with a high dose (author)

Inter-laboratory comparison to validate the dicentric assay as a cytogenetic triage tool for medical management of radiation accidents

Energy Technology Data Exchange (ETDEWEB)

Beinke, Christina, E-mail: christinabeinke@bundeswehr.org [Bundeswehr Institute of Radiobiology Affiliated to the University of Ulm, Neuherbergstrasse 11, 80937 Munich (Germany); Oestreicher, Ursula [Federal Office for Radiation Protection, Neuherberg (Germany); Riecke, Armin [Department for Internal Medicine, Federal Armed Forces Hospital, Ulm (Germany); Kulka, Ulrike [Federal Office for Radiation Protection, Neuherberg (Germany); Meineke, Viktor [Bundeswehr Institute of Radiobiology Affiliated to the University of Ulm, Neuherbergstrasse 11, 80937 Munich (Germany); Romm, Horst [Federal Office for Radiation Protection, Neuherberg (Germany)

2011-09-15

Radiation accidents with exposure of human beings can assume huge dimensions concerning occurring health impairments and essential medical resources such as personnel, patient care management and appropriate medical facilities. Particularly in mass-casualty events, a rapid sorting and allocation of victims to treatment is needed and their classification in medical treatment groups has to be conducted as fast as possible. For triage purposes several approaches can be considered. Clinical signs and symptoms are extremely helpful in estimating radiation effects on an organ-based level, whereas the assessment of radiation effects based on cytogenetic biodosimetry tools is the alternative approach. For both systems there are pros and cons with respect to the usefulness for specific applications, such as individual cases versus mass-casualty screening or whole- versus partial-body exposures. Among the biodosimetry tools the dicentric chromosome assay (DCA) is considered as the 'gold standard' for biodosimetry after an acute radiation exposure. Recently, steady progress in standardization and harmonization of the DCA has occurred, in order to enable the validated performance of the DCA in the frame of cooperative response of biodosimetry networks during a large scale radiological scenario. Using the DCA in triage mode which allows the stratification of radiation exposed victims into broad 1.0 Gy categories only 20-50 metaphase cells per subject are scored instead of the 500-1000 scored for routine analysis. Our data show that there are significant differences between the dicentric yields after 1.0 Gy and 3.0 Gy {gamma}-ray ex vivo exposure of blood suggesting this assay as suitable for the distinction between high and low dosed exposed individuals. These preliminary findings indicate the usefulness of the DCA also for therapeutic decision making.

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

Science.gov (United States)

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

2009-01-01

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

Cytogenetic responses to ionizing radiation exposure of human fibroblasts with knocked-down expressions of various DNA damage signaling genes

Science.gov (United States)

Zhang, Ye; Rohde, Larry; Wu, Honglu

Changes of gene expression profile are one of the most important biological responses in living cells after ionizing radiation (IR) exposure. Although some studies have demonstrated that genes with up-regulated expression induced by IR may play important roles in DNA damage sensing, cell cycle checkpoint and chromosomal repair, the relationship between the regulation of gene expression by IR and its impact on cytogenetic responses to ionizing radiation has not been systematically studied. Here, the expression of 25 genes selected based on their transcriptional changes in response to IR or from their known DNA repair roles were individually knocked down by siRNA transfection in human fibroblast cells. Chromosome aberrations (CA) and micronuclei (MN) formation were measured as the cytogenetic endpoints. Our results showed that the yields of MN and/or CA formation were significantly increased by suppressed expression of some of the selected genes in DSB and other DNA repair pathways. Knocked-down expression of other genes showed significant impact on cell cycle progression, possibly because of severe impairment of DNA damage repair. Of these 11 genes that affected the cytogenetic response, 9 were up-regulated in the cells exposed to gamma radiation, suggesting that genes transcriptionally modulated by IR were critical to regulating the biological consequences after IR. Failure to express these IR-responsive genes, such as by gene mutation, could seriously change the outcome of the post IR scenario and lead to carcinogenesis.

Doses in radiation accidents investigated by chromosome aberration analysis XVI: A review of cases investigated, 1985

International Nuclear Information System (INIS)

Lloyd, D.C.; Edwards, A.A.; Prosser, J.S.; Moquet, J.E.; Finnon, P.

1986-04-01

During 1985, 28 cases of suspected overexposure to ionising radiation were referred to NRPB for investigation by cytogenetic analysis, and the results are presented in this report. Of the 28 cases, 17 were associated with industrial radiography, 9 from major nuclear organisations and 2 from research, education and health institutions. In 20 cases, no biological indication of overexposure was found. The remaining 8 cases all arose from industrial uses of radiation. The highest overexposure to a sealed source in 1985 ws about 0.4 Gy from an 192 Ir source that became detached from its winding mechanism. Two serious incidents involving unsealed sources are also described; an accidental ingestion of 125 I, for which cytogenetic analysis is of limited relevance, and an inhalation of droplets of tritiated water. The latter also produced a committed dose equivalent of about 0.4 Sv, the estimates from cytogenetic analysis and urine analysis being in good agreement. (author)

Comparative genomic hybridization analysis of benign and invasive male breast neoplasms

DEFF Research Database (Denmark)

Ojopi, Elida Paula Benquique; Cavalli, Luciane Regina; Cavalieri, Luciane Mara Bogline

2002-01-01

Comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease and compared with cytogenetic analysis in two of the three cases. CGH...... analysis demonstrated overrepresentation of 8q in all three cases. One case of gynecomastia presented gain of 1p34.3 through pter, 11p14 through q12, and 17p11.2 through qter, and loss of 1q41 through qter and 4q33 through qter. The other gynecomastia presented del(1)(q41) as detected by both cytogenetic...

Photon and proton activation analysis of iron and steel standards using the internal standard method coupled with the standard addition method

International Nuclear Information System (INIS)

Masumoto, K.; Hara, M.; Hasegawa, D.; Iino, E.; Yagi, M.

1997-01-01

The internal standard method coupled with the standard addition method has been applied to photon activation analysis and proton activation analysis of minor elements and trace impurities in various types of iron and steel samples issued by the Iron and Steel Institute of Japan (ISIJ). Samples and standard addition samples were once dissolved to mix homogeneously, an internal standard and elements to be determined and solidified as a silica-gel to make a similar matrix composition and geometry. Cerium and yttrium were used as an internal standard in photon and proton activation, respectively. In photon activation, 20 MeV electron beam was used for bremsstrahlung irradiation to reduce matrix activity and nuclear interference reactions, and the results were compared with those of 30 MeV irradiation. In proton activation, iron was removed by the MIBK extraction method after dissolving samples to reduce the radioactivity of 56 Co from iron via 56 Fe(p, n) 56 Co reaction. The results of proton and photon activation analysis were in good agreement with the standard values of ISIJ. (author)

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....

Cytogenetic Low-Dose Hyperradiosensitivity Is Observed in Human Peripheral Blood Lymphocytes

Energy Technology Data Exchange (ETDEWEB)

Seth, Isheeta [Department of Biological Sciences, Wayne State University, Detroit, Michigan (United States); Joiner, Michael C. [Department of Radiation Oncology, Wayne State University, Detroit, Michigan (United States); Tucker, James D., E-mail: jtucker@biology.biosci.wayne.edu [Department of Biological Sciences, Wayne State University, Detroit, Michigan (United States)

2015-01-01

Purpose: The shape of the ionizing radiation response curve at very low doses has been the subject of considerable debate. Linear-no-threshold (LNT) models are widely used to estimate risks associated with low-dose exposures. However, the low-dose hyperradiosensitivity (HRS) phenomenon, in which cells are especially sensitive at low doses but then show increased radioresistance at higher doses, provides evidence of nonlinearity in the low-dose region. HRS is more prominent in the G2 phase of the cell cycle than in the G0/G1 or S phases. Here we provide the first cytogenetic mechanistic evidence of low-dose HRS in human peripheral blood lymphocytes using structural chromosomal aberrations. Methods and Materials: Human peripheral blood lymphocytes from 2 normal healthy female donors were acutely exposed to cobalt 60 γ rays in either G0 or G2 using closely spaced doses ranging from 0 to 1.5 Gy. Structural chromosomal aberrations were enumerated, and the slopes of the regression lines at low doses (0-0.4 Gy) were compared with doses of 0.5 Gy and above. Results: HRS was clearly evident in both donors for cells irradiated in G2. No HRS was observed in cells irradiated in G0. The radiation effect per unit dose was 2.5- to 3.5-fold higher for doses ≤0.4 Gy than for doses >0.5 Gy. Conclusions: These data provide the first cytogenetic evidence for the existence of HRS in human cells irradiated in G2 and suggest that LNT models may not always be optimal for making radiation risk assessments at low doses.

Sublethal effects of the Exxon Valdez oil spill on herring embryos and larvae: morphological, cytogenetic; and histopathological assessments, 1989-1991

International Nuclear Information System (INIS)

Hose, J. E.; Marty, G. D.; Hinton, D. E.

1996-01-01

Extensive sublethal damage assessments were carried out on Pacific herring larvae following the Exxon Valdez oil spill. Egg masses were collected from oiled and non-oiled areas during 1989 to 1991, and incubated to hatch. The hatched larvae were evaluated for morphological deformities, cytogenetic abnormalities, and histopathological lesions. In 1989, herring larvae from the oiled areas showed high incidence of morphological deformities and cytogenetic abnormalities compared to larvae from non-oiled areas. There was no evidence of histopathological lesions. Identical assessments in 1990 and 1991 revealed no detectable oil-related developmental and genetic effects. In contrast, there was a marked decrease in survival, suggesting that that genetic damage at heavily oiled stations combined with severe morphological malformations mitigated against survival through the stressful larval period. 40 refs., 1 tab.,8 figs

Molecular cytogenetic characterization of a human thyroid cancercell line

Energy Technology Data Exchange (ETDEWEB)

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

2006-01-04

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

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

Czech Academy of Sciences Publication Activity Database

Van´t Hof, A. E.; Marec, František; Saccheri, I. J.; Brakefield, P. M.; Zwaan, B. J.

2008-01-01

Roč. 3, č. 12 (2008), e3882 E-ISSN 1932-6203 R&D Projects: GA ČR GA206/06/1860 Institutional research plan: CEZ:AV0Z50070508 Keywords : Bicyclus anynana * cytogenetic characterization * AFLP-based genetic linkage mapping Subject RIV: EB - Genetics ; Molecular Biology

Concrete blocks. Analysis of UNE, ISO en standards and comparison with other international standards

Directory of Open Access Journals (Sweden)

Álvarez Alonso, Marina

1990-12-01

Full Text Available This paper attempts to describe the recently approved UNE standards through a systematic analysis of the main specifications therein contained and the values considered for each of them, as well as the drafts for ISO and EN concrete block standards. Furthermore, the study tries to place the set of ISO standards in the international environment through a comparative analysis against a representative sample of the standards prevailing in various geographical regions of the globe to determine the analogies and differences among them. PALABRAS CLAVE: albañilería, análisis de sistemas, bloque de hormigón, muros de fábrica, normativa KEY WORDS: masonry, system analysis, concrete blocks, masonry walls, standards

En este trabajo se pretende describir la reciente aprobada normativa UNE, analizando sistemáticamente las principales prescripciones contempladas y los valores considerados para cada una de ellas, así como los proyectos de Norma ISO, y EN sobre bloques de hormigón. Asimismo se intenta situar la normativa UNE en al ámbito internacional, haciendo un análisis comparativo con una representación de Normas de distintas regiones geográficas del mundo, determinando sus analogías y diferencias.

Acute lymphoblastic leukemia with multiple cytogenetic abnormalities secondary to treatment of Ewing's sarcoma

International Nuclear Information System (INIS)

Al-Homaidhi, A.M.; Patterson, B.; Rubin, S.; Lipton, J.H.

1999-01-01

We report the case of a 22-year-old man with Ewing's sarcoma who attained a complete remission (CR) after combination radiotherapy and chemotherapy. Secondary acute lymphoblastic leukemia with multiple cytogenetic abnormalities involving chromosome 5 and 7 developed 16 years later. The patient underwent induction chemotherapy and entered a CR. Peripheral blood stem cell transplantation from a matched sibling was performed successfully and he is in complete remission of both ALL and Ewing's sarcoma. (Copyright (c) 1999 Elsevier Science B.V., Amsterdam. All rights reserved.)

Chromosomal structures and repetitive sequences divergence in Cucumis species revealed by comparative cytogenetic mapping.

Science.gov (United States)

Zhang, Yunxia; Cheng, Chunyan; Li, Ji; Yang, Shuqiong; Wang, Yunzhu; Li, Ziang; Chen, Jinfeng; Lou, Qunfeng

2015-09-25

Differentiation and copy number of repetitive sequences affect directly chromosome structure which contributes to reproductive isolation and speciation. Comparative cytogenetic mapping has been verified an efficient tool to elucidate the differentiation and distribution of repetitive sequences in genome. In present study, the distinct chromosomal structures of five Cucumis species were revealed through genomic in situ hybridization (GISH) technique and comparative cytogenetic mapping of major satellite repeats. Chromosome structures of five Cucumis species were investigated using GISH and comparative mapping of specific satellites. Southern hybridization was employed to study the proliferation of satellites, whose structural characteristics were helpful for analyzing chromosome evolution. Preferential distribution of repetitive DNAs at the subtelomeric regions was found in C. sativus, C hystrix and C. metuliferus, while majority was positioned at the pericentromeric heterochromatin regions in C. melo and C. anguria. Further, comparative GISH (cGISH) through using genomic DNA of other species as probes revealed high homology of repeats between C. sativus and C. hystrix. Specific satellites including 45S rDNA, Type I/II, Type III, Type IV, CentM and telomeric repeat were then comparatively mapped in these species. Type I/II and Type IV produced bright signals at the subtelomeric regions of C. sativus and C. hystrix simultaneously, which might explain the significance of their amplification in the divergence of Cucumis subgenus from the ancient ancestor. Unique positioning of Type III and CentM only at the centromeric domains of C. sativus and C. melo, respectively, combining with unique southern bands, revealed rapid evolutionary patterns of centromeric DNA in Cucumis. Obvious interstitial telomeric repeats were observed in chromosomes 1 and 2 of C. sativus, which might provide evidence of the fusion hypothesis of chromosome evolution from x = 12 to x = 7 in

In vivo synergistic cytogenetic effects of aminophylline on lymphocyte cultures from patients with lung cancer undergoing chemotherapy

Energy Technology Data Exchange (ETDEWEB)

Mylonaki, Effie; Manika, Katerina [Pulmonary Department, “G.Papanikolaou” General Hospital, Aristotle University of Thessaloniki (Greece); Zarogoulidis, Paul, E-mail: pzarog@hotmail.com [Pulmonary Department, “G.Papanikolaou” General Hospital, Aristotle University of Thessaloniki (Greece); Domvri, Kalliopi; Voutsas, Vasilis; Zarogoulidis, Kostas [Pulmonary Department, “G.Papanikolaou” General Hospital, Aristotle University of Thessaloniki (Greece); Mourelatos, Dionysios [Biology and Genetics, Medical School, Aristotle University of Thessaloniki (Greece)

2012-12-15

Highlights: ► SCEs in vivo, a possible predictor of tumor chemoresponse. ► In vivo exposure to combined treatment, applying the SCE assay. ► Aminophylline enhances DNA instability induced by chemotherapy in vivo. ► In vivo synergistic effect of Aminophylline with the chemotherapeutic agents. - Abstract: Background: The anti-cancer and cytogenetic effects of aminophylline (AM) have been demonstrated in several clinical trials. The aim of the present study was to investigate the in vivo cytogenetic effects of AM in newly diagnosed patients with small cell (SCLC) and non-small cell lung cancer (NSCLC), receiving chemotherapy for the first time. Methods: Sister chromatid exchanges (SCEs) and proliferation rate index (PRI) were evaluated in peripheral blood lymphocyte cultures from six patients with SCLC and six patients with NSCLC after the in vitro addition of AM and after the in vivo administration of AM in patients receiving chemotherapy. Results: The in vitro addition of AM significantly increased SCEs only in SCLC patients (p < 0.001). The in vivo administration of AM after chemotherapy increased SCEs in both cancer types (SCLC: p < 0.001, NSCLC: p = 0.003) and this increase was synergistic, the rates of SCEs in the presence of AM were higher than the expected SCE values if the increases above background for chemotherapy and AM were independent and additive (SCLC: p < 0.001, NSCLC: p = 0.008). Although in both groups of patients cell division delays were observed after the combined chemotherapy plus in vivo AM treatment, the correlation between the magnitude of the SCE response and the PRI depression was not statistically significant (p > 0.05). Conclusions: These observations suggest that AM enhances the results of concurrently administered chemotherapy by synergistically increasing its cytogenetic effects in patients with lung cancer.

Incorporating experience curves in appliance standards analysis

International Nuclear Information System (INIS)

Desroches, Louis-Benoit; Garbesi, Karina; Kantner, Colleen; Van Buskirk, Robert; Yang, Hung-Chia

2013-01-01

There exists considerable evidence that manufacturing costs and consumer prices of residential appliances have decreased in real terms over the last several decades. This phenomenon is generally attributable to manufacturing efficiency gained with cumulative experience producing a certain good, and is modeled by an empirical experience curve. The technical analyses conducted in support of U.S. energy conservation standards for residential appliances and commercial equipment have, until recently, assumed that manufacturing costs and retail prices remain constant during the projected 30-year analysis period. This assumption does not reflect real market price dynamics. Using price data from the Bureau of Labor Statistics, we present U.S. experience curves for room air conditioners, clothes dryers, central air conditioners, furnaces, and refrigerators and freezers. These experience curves were incorporated into recent energy conservation standards analyses for these products. Including experience curves increases the national consumer net present value of potential standard levels. In some cases a potential standard level exhibits a net benefit when considering experience, whereas without experience it exhibits a net cost. These results highlight the importance of modeling more representative market prices. - Highlights: ► Past appliance standards analyses have assumed constant equipment prices. ► There is considerable evidence of consistent real price declines. ► We incorporate experience curves for several large appliances into the analysis. ► The revised analyses demonstrate larger net present values of potential standards. ► The results imply that past standards analyses may have undervalued benefits.

A cytogenetic study of personnel of the Kozloduy NPP with a view to the hazards of late effects

Energy Technology Data Exchange (ETDEWEB)

Bulanova, M; Benova, D; Georgieva, I; Georgieva, V; Yagova, A; Rupova, I; Kusheva, R; Khadzhidekova, V; Topalova, S; Nikolova, T [National Centre of Radiobiology and Radiation Protection, Sofia (Bulgaria)

1996-12-31

Chromosomal analysis of 40 Kozloduy NPP workers has been carried out. Three cytogenetic end-points have been considered: chromosomal aberrations (CA), sister-chromatid exchanges and micro nuclear assays in peripheral blood lymphocytes. A higher incidence of CA has been detected in the investigated group in comparison with a control group. This is attributed to the radiation factor taking into consideration that the highest occurrence is that of dicentric chromosomes induced by radiation exposure. 95% of the workers have been employed for more than 5 years and 60% have received a dose of more than 30 cSv. However no direct relation of CA incidence to the accumulated dose has been observed. Tobacco smoking potentiates additionally the damage of the chromosome structures caused by ionizing radiation. 15 refs., 3 tabs.

Cytogenetic evaluation of hospital workers occupationally exposed to low levels of ionizing radiation. Assessment of two cytogenetic procedures: accumulated dosimetry versus radiosensitivity

International Nuclear Information System (INIS)

Garcia-Sagredo, J. M.; Villalon, C.; Lopez-Abente, G.; Arranz, L.; Ferro, M. T.; Ferrando, P.; Pollan, M.; Aragones, N.; Ferrer, N.; Sastre, J. M.

2004-01-01

We try to establish a cumulative ionising radiation (IR) biologicla dosimetry in occupationally exposed workers as a routine health tes, analysing chromosome translocations. 100 hospital workers occupationally exposed to low levels of X-ray, g-ray and radioactive isotopes are included in this study. Blood samples were cultured for cytogenetic analysis. Chromosome translocatiosn were scored using whole chromosome paint probes cocktail (Vysis) for chromosomes 1, 2, 3, 4, 5 and 6. Furthermore, a personal detailed interview about confounding factors, as tobacco smoking X-ray examination, occupational exposure to chemotherapeutics agents and solvents, electromagnetic fields exposure, and others was done. Our results showed that there is no statistical association between cumulative doses of IRE, type of LET and chromosome translocation rate. For the contraty, we have found a translocation risk increase related with IR equivalent dose rate, independently of the time of exposure and age. Those workers receiving 1mSv/year or more vs<1mSv/year show a relative risk of 2.56 (95% confidence interval 1.10-5.95). A comparison of translocationrate and different confounding factors suggest a relative risk increase in intensive users of mobile phones. Other exposures as tobacco smoking solvents, UV radiation anaesthetic gases and any other confounding factors have not shown assocaition with translocation rate. At the same time, we try to analyse radiosensitivity through the CBMN-test (cytokinesis block micronucelus test). Results on CBMN are in progress. Finally we try to asses the two cytogentic procedures as the most suitable routine health test in radiation occupational protection. (Author)

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.

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

Directory of Open Access Journals (Sweden)

Brito Rute Magalhães

2003-01-01

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

Cytogenetic study of preleukemic phases and of acute leukemia secondary to chemo- and/or radiotherapy. Review of the literature (102 cases)

International Nuclear Information System (INIS)

Smadja, N.; Krulik, M.; Debray, J.

1982-01-01

A review of the literature upon 102 cases with cytogenetic study of preleukemic states (Prel.) and/or acute secondary leukemia (ASL) following chemotherapy and/or radiotherapy treatment has been made. The karyotype was almost always abnormal (91% of cases). There was a predominance of hypodiploidy with abnormalities including chromosome number 5 (-5 ou 5q-) and/or number 7 (7- or 7q-) (chromosomes studied with banding). The abnormalities were present in preleukemia state. The pattern of the acute secondary leukemia was particularly different from that acute leukemia de novo: high frequency of preleukemia state, ANLL type of leukemia, very bad prognosis, importance of cytogenetic abnormalities. There was a great interest in the study of the karyotype for the previous detection in ASL: this allowed their discovery as soon as the preleukemia state [fr

Cytogenetic bio-dosimetry of an accidental exposure of a radiological worker using multiple assays

International Nuclear Information System (INIS)

Thierens, H.; De Ruyck, K.; Vral, A.; De Gelder, V.; Whitehouse, C. A.; Tawn, E. J.; Boesman, I.

2005-01-01

A technician involved in the maintenance of X-ray equipment visited the occupational medicine service with complaints of skin lesions, apparently caused by an accidental exposure three months earlier. To estimate the dose received by the technician in the accident, bio-dosimetry was performed 6 and 18 months post-exposure with the dicentric and micronucleus assays. Part of the latest blood sample was also used for retrospective dosimetry by fluorescence in situ hybridisation (FISH) analysis for translocations. The data obtained 6 and 18 months post-exposure indicate that both dicentrics and micronuclei disappear with a half-time of 1 y. After correction for delayed blood sampling, dose values of 0.75 Gy (95% confidence limits 0.56-1.05 Gy) from dicentrics and 0.96 Gy (95% confidence limits 0.79-1.18 Gy) from micronuclei were obtained. FISH analysis of translocations resulted in a dose estimate of 0.79 Gy (95% confidence limits 0.61-0.99 Gy). The satisfactory agreement between the three cytogenetic endpoints supports the use of the micronucleus assay for triage purposes in the case of large scale radiological accidents and provides further evidence for the valid use of FISH for translocations as a reliable retrospective biological dosimeter. (authors)

The role of fusion in ant chromosome evolution: insights from cytogenetic analysis using a molecular phylogenetic approach in the genus mycetophylax.

Science.gov (United States)

Cardoso, Danon Clemes; das Graças Pompolo, Silvia; Cristiano, Maykon Passos; Tavares, Mara Garcia

2014-01-01

Among insect taxa, ants exhibit one of the most variable chromosome numbers ranging from n = 1 to n = 60. This high karyotype diversity is suggested to be correlated to ants diversification. The karyotype evolution of ants is usually understood in terms of Robertsonian rearrangements towards an increase in chromosome numbers. The ant genus Mycetophylax is a small monogynous basal Attini ant (Formicidae: Myrmicinae), endemic to sand dunes along the Brazilian coastlines. A recent taxonomic revision validates three species, Mycetophylax morschi, M. conformis and M. simplex. In this paper, we cytogenetically characterized all species that belongs to the genus and analyzed the karyotypic evolution of Mycetophylax in the context of a molecular phylogeny and ancestral character state reconstruction. M. morschi showed a polymorphic number of chromosomes, with colonies showing 2n = 26 and 2n = 30 chromosomes. M. conformis presented a diploid chromosome number of 30 chromosomes, while M. simplex showed 36 chromosomes. The probabilistic models suggest that the ancestral haploid chromosome number of Mycetophylax was 17 (Likelihood framework) or 18 (Bayesian framework). The analysis also suggested that fusions were responsible for the evolutionary reduction in chromosome numbers of M. conformis and M. morschi karyotypes whereas fission may determines the M. simplex karyotype. These results obtained show the importance of fusions in chromosome changes towards a chromosome number reduction in Formicidae and how a phylogenetic background can be used to reconstruct hypotheses about chromosomes evolution.

Taurine effect on cytogenetic lesions in the cornea of mice exposed to 9 Gev proton irradiation

International Nuclear Information System (INIS)

Vorozhtsova, S.V.; Yartsev, E.I.

1989-01-01

Possibilities of preventive measures and treatment of cytogenetic injuries in the mice cornea, subjected to proton irradiation at 9 Gev were studied. Taurine containing solution (TCS) was used as a radiomodifying agent. It is shown that TCS application enables to decrease aberrant mitoses level in cornea epithelium cells of mice. Antiactinic effect of the above agent is determined by its considerable action on mitotic delay

Molecular and cytogenetic analyses of cryptic species within the Synbranchus marmoratus Bloch, 1795 (Synbranchiformes: Synbranchidae grouping: species delimitations, karyotypic evolution and intraspecific diversification

Directory of Open Access Journals (Sweden)

Ricardo Utsunomia

Full Text Available The fish species Synbranchus marmoratushas been reported to exist as a species complex due to high intraspecific karyotypic variability in spite of the difficulty or impossibility to distinguish them using morphological traits alone. The goal of this work was to use cytogenetic and molecular methods to determine the species delimitations and understand the karyoevolution ofS. marmoratususing samples collected from distinct Brazilian localities. Among the analyzed specimens, a large degree of cytogenetic variation related to diploid numbers and karyotype structure was observed, with karyotypes showing 2n=42, 44 and 46 chromosomes. In addition, using sequences of three mitochondrial genes, the phylogenetic relationships between every sample with a known karyotype were determined, which revealed significant nucleotide divergence among the karyomorphs. Also, the analyses indicate that chromosomal rearrangements occurred independently within the distinct lineages of S. marmoratuscomplex, which resulted in the appearance of distinct karyotypic variants in a non-linear fashion related to diploid numbers and in the appearance of similar non-homologous chromosomes. Finally, the integration of both molecular cytogenetic and phylogenetic approaches allowed the determination of specific chromosomes possibly involved in rearrangements and a better understanding about the evolutionary processes involved in the differentiation ofSynbranchusgenus.

Cytogenetic adaptive response induced by pre-exposure in human lymphocytes and marrow cells of mice

International Nuclear Information System (INIS)

Zhang Lianzhen; Deng Zhicheng

1993-01-01

The cytogenetic adaptive response induced by pre-exposure in human lymphocytes and marrow cells of mice were studied. The results of this study showed that human lymphocytes in vitro and mouse marrow cells in vivo can become adapted to low-level irradiation from 3 H-TdR or exposure to a low dose of X-or γ-irradiation, so that they become less sensitive to the chromosomal damage effects of subsequent exposures. (4 tabs.)

Cytogenetic characteristics of Chironomus balatonicus Devai, Wulker, Scholl (Diptera, Chironomidae) from the Chernobyl region

International Nuclear Information System (INIS)

Michailova, P.; Petrova, N.

1994-01-01

A cytogenetic analysis was carried out on a population of Chironomus balatonicus (Chironomidae, Diptera) from Chernobyl, a highly radioactive area of the Kiev region. Several chromosomal aberrations were established unique to a population of Chironomus balatonicus living in an area contaminated by radioactive waste. Five new heterozygous inversions, deficiencies in arms C, D, E, F and chromatid breaks were found in the irradiated population but not in nonirradiated populations. A pericentric inversion in chromosome AB occurred at a relatively high frequency. Genome aberrations expressed by a heterochromatized 'B' chromosome were evident. In the irradiated and nonirradiated populations common inversions occurred showing variation in their frequency depending on specific environmental conditions. The somatic and also the germ cells were characterized by a number of heteropycnotic nuclei and vacuolized chromosomes. Both the somatic and germ cells showed changes in the structural and functional organization of heterochromatin and this was particularly marked in the telomeric sectors of the chromosomes. The heterochromatin which is extremely sensitive to radioactivity appears to protect euchromatin from adverse environmental conditions

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

Directory of Open Access Journals (Sweden)

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.

The influence of nalidixic acid and nicotinamide of the radiation-induced cytogenetic injury to hexaploid wheat varities contrast by radioresistance

International Nuclear Information System (INIS)

Selezneva, E.M.; Sarapul'tsev, B.I.

1990-01-01

Nalidixic acid modifies the cytogenetic injury when only applied to seeds of a radiosensitive variety, Moskovskaya 35. The radioprotective effect of nicotinamide on both radiosensitive and radioresistant hexaploid wheat varities is observed being dependent on the extent which the genetic apparatus is impaired

Cytogenetics of the Porthole Shovelnose Catfish, Hemisorubim platyrhynchos (Valenciennes, 1840) (Siluriformes, Pimelodidae), a widespread species in South American rivers

Science.gov (United States)

Swarça, Ana Cláudia; Sanchez, Sebastian; Dias, Ana Lucia; Fenocchio, Alberto Sergio

2013-01-01

Abstract Hemisorubim platyrhynchos is a medium- to large-sized pimelodid catfish distributed along several river basins of the Neotropical Region, noteworthy for representing an important fishery source. In this work, Hemisorubim platyrhynchos from three isolated populations were cytogenetically analyzed. The karyotype shows a diploid number of 2n=56 chromosomes comprising 22m, 16sm, 10st, 8a (FN=104). NORs detected by AgNO3 were located in the terminal regions of the short arm of a st chromosome pair, as confirmed by CMA3 and FISH using an 18S rDNA probe. C-banding revealed a small amount of heterochromatin in chromosomes, including the NORs, and one biarmed pair that showed conspicuous positive bands on both arms. This fact was also evidenced when using other banding techniques, such as RE (AluI), and indicates that this pair constitutes a species-specific cytogenetic marker. PMID:24260693

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.

Cytogenetic damage in human blood lymphocytes exposed in vitro and in vivo to space-relevant HZE-particles

Science.gov (United States)

Lee, Ryonfa; Nasonova, Elena; Sommer, Sylvester; Hartel, Carola; Ritter, Sylvia

During space missions astronauts are exposed to cosmic radiations which are different from natural background radiation on Earth in both quantity and quality. Dose rate in space environment is at least 100 times higher than that on Earth. In addition, the natural radiation on Earth consists mainly of X-, γ-rays and α-emitters, while in space charged particles from protons to iron ions are predominant. The composition of radiation environment of outer space is well understood, however, due to a lack of data on the biological effects of dose, dose-rate and especially HZE (high charge Z and energy E) particles, large uncertainties exist in estimating the health risks for long-term space mission. To contribute to this issue, we investigated cytogenetic damage induced by heavy charged particles in human lymphocytes, since chromosome aberration yield is a biomarker showing an association with cancer risk. Lymphocytes collected from a healthy donor were irradiated with carbon ions (C-ions) in vitro with various energies (11.4 to 400 MeV/u; LET values 11 to 175 keV/µm) at either UNILAC or SIS facility (GSI, Germany) or exposed to X-rays. Additionally, peripheral blood was obtained from prostate cancer patients, treated with intensity modulated radiation therapy (IMRT) or IMRT combined with C-ion boost. Samples were taken before, during and after the radiotherapy. Chromosome samples were stained with FPG-technique to enable aberration analysis in 1st cycle metaphases. After in vitro exposure to C-ions, RBE values for the induction of chromosome aberrations increased with sampling time. The effect was most pronounced in samples exposed to 175 keV/µm C-ions and can be attributed to a pronounced cell cycle delay of heavily damaged cells. Thus, for a reliable risk assessment, the effect of selective cell cycle delay following particle exposure should be taken into account. M-FISH analysis of selected samples to assess aberration quality revealed higher frequencies of

ASTM standards for fire debris analysis: a review.

Science.gov (United States)

Stauffer, Eric; Lentini, John J

2003-03-12

The American Society for Testing and Materials (ASTM) recently updated its standards E 1387 and E 1618 for the analysis of fire debris. The changes in the classification of ignitable liquids are presented in this review. Furthermore, a new standard on extraction of fire debris with solid phase microextraction (SPME) was released. Advantages and drawbacks of this technique are presented and discussed. Also, the standard on cleanup by acid stripping has not been reapproved. Fire debris analysts that use the standards should be aware of these changes.

Standard Compliant Hazard and Threat Analysis for the Automotive Domain

Directory of Open Access Journals (Sweden)

Kristian Beckers

2016-06-01

Full Text Available The automotive industry has successfully collaborated to release the ISO 26262 standard for developing safe software for cars. The standard describes in detail how to conduct hazard analysis and risk assessments to determine the necessary safety measures for each feature. However, the standard does not concern threat analysis for malicious attackers or how to select appropriate security countermeasures. We propose the application of ISO 27001 for this purpose and show how it can be applied together with ISO 26262. We show how ISO 26262 documentation can be re-used and enhanced to satisfy the analysis and documentation demands of the ISO 27001 standard. We illustrate our approach based on an electronic steering column lock system.

Development of an analysis rule of diagnosis error for standard method of human reliability analysis

International Nuclear Information System (INIS)

Jeong, W. D.; Kang, D. I.; Jeong, K. S.

2003-01-01

This paper presents the status of development of Korea standard method for Human Reliability Analysis (HRA), and proposed a standard procedure and rules for the evaluation of diagnosis error probability. The quality of KSNP HRA was evaluated using the requirement of ASME PRA standard guideline, and the design requirement for the standard HRA method was defined. Analysis procedure and rules, developed so far, to analyze diagnosis error probability was suggested as a part of the standard method. And also a study of comprehensive application was performed to evaluate the suitability of the proposed rules

Characterization of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in Shanghai, China: molecular and cytogenetic characteristics, IgV gene restriction and hypermutation patterns.

Science.gov (United States)

Irons, Richard D; Le, Anh; Bao, Liming; Zhu, Xiongzeng; Ryder, John; Wang, Xiao Qin; Ji, Meirong; Chen, Yan; Wu, Xichun; Lin, Guowei

2009-12-01

The clinical, cytogenetic and molecular features of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), a disease previously considered to be rare in Asia, were examined in consecutive series of 70 cases diagnosed by our laboratory over a 30-month period. Clonal abnormalities were observed in 80% of CLL/SLL cases using a combination of conventional cytogenetic and fluorescence in situ hybridization (FISH) analysis. Those involving 14q32/IGH were the most frequent (24 cases), followed by trisomy 12 and 11q abnormalities. IgV(H) gene usage was non-random with over-representation of V(H)4-34, V(H)3-23 and a previously unreported increase in V(H)3-48 gene use. Somatic hypermutation (SHM) of IgV(H) germline sequences was observed in 56.5% of cases with stereotyped patterns of SHM observed in V(H)4-34 heavy chain complimentary-determining (HCDR1) and framework region CFR2 sequences. These findings in a Chinese population suggest subtle geographical differences in IgV(H) gene usage while the remarkably specific pattern of SHM suggest that a relatively limited set of antigens may be involved in the development of this disease worldwide. IgV(H) gene mutation status was a significant predictor of initial survival in CLL/SLL. However, an influence of karyotype on prognosis was not observed.

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.

Cytogenetic study of Philippine guppy (Lebistes reticulatus Peters)

International Nuclear Information System (INIS)

Gregorio, J.S.

1982-06-01

One means of evaluating the hazards caused by radioactivity on the genomes of aquatic organisms is to screen the exposed cells for chromosome aberrations. Since fish comprise the majority of aquatic organisms, it will be very interesting to prepare and establish a baseline study of the chromosome numbers of this species. The Philippine guppy (Lebistes reticulatus Peter) collected from the different sampling areas were studied using the gill epithelial cells. These were studied to determine the chromosome number and the fundamental number of the species; to study the chromosome morphology and its karyotype. Cytogenetic techniques were used to analyze the chromosomes of the guppy. Of the karyotypes seen, it was concluded that the guppies collected from the three areas show no considerable differences. Apparently, no chromosomal abnormalities were seen in the cells analyzed. The karyotype was constructed to illustrate the chromosome morphology of the guppy. This constructed karyotype of the guppy can be used as a model for determining chromosome aberration effects on the component of the aquatic ecosystems. (author)

78 FR 45447 - Revisions to Modeling, Data, and Analysis Reliability Standard

Science.gov (United States)

2013-07-29

...; Order No. 782] Revisions to Modeling, Data, and Analysis Reliability Standard AGENCY: Federal Energy... Analysis (MOD) Reliability Standard MOD- 028-2, submitted to the Commission for approval by the North... Organization. The Commission finds that the proposed Reliability Standard represents an improvement over the...

Biochemistry, cytogenetics and bioaccumulation in silver catfish (Rhamdia quelen) exposed to different thorium concentrations

Energy Technology Data Exchange (ETDEWEB)

Correa, Lizelia M; Kochhann, Daiani; Becker, Alexssandro G; Pavanato, Maria A [Departamento de Fisiologia e Farmacologia, Universidade Federal de Santa Maria, 97105-900 Santa Maria, RS (Brazil); Llesuy, Susana F [Departamento de Quimica Analitica y Fisicoquimica, Universidad de Buenos Aires, Buenos Aires (Argentina); Loro, Vania L; Raabe, Alice [Departamento de Quimica, Universidade Federal de Santa Maria, 97105-900 Santa Maria, RS (Brazil); Mesko, Marcia F [Departamento de Quimica, Universidade Federal de Santa Maria, 97105-900 Santa Maria, RS (Brazil); Polo em Cruz Alta, Universidade Estadual do Rio Grande do Sul, 98025-810 Cruz Alta, RS (Brazil); Flores, Erico M.M.; Dressler, Valderi L [Departamento de Quimica, Universidade Federal de Santa Maria, 97105-900 Santa Maria, RS (Brazil); Baldisserotto, Bernardo [Departamento de Fisiologia e Farmacologia, Universidade Federal de Santa Maria, 97105-900 Santa Maria, RS (Brazil)

2008-07-30

The objective of this study was to evaluate the effect of thorium (Th) bioaccumulation on the metabolism of silver catfish (Rhamdia quelen) through biochemical parameters of the muscle (glycogen, glucose, lactate, protein, and ammonia). In addition, lipidic peroxidation levels (TBARS), catalase (CAT) and glutathione-S-transferase (GST) in the gills and in hepatic and muscular tissues were also analyzed. Cytogenetic parameters were studied through the evaluation of nuclear abnormalities in red blood cells. Silver catfish juveniles were exposed to different waterborne Th levels (in {mu}g L{sup -1}): 0 (control), 25.3 {+-} 3.2, 69.2 {+-} 2.73, 209.5 {+-} 17.6, and 608.7 {+-} 61.1 for 15 days. The organs that accumulated the highest Th levels were the gills and skin. The increase of waterborne Th concentration corresponded to a progressive increase of Th levels in the gills, liver, skin and kidneys, with the highest accumulation in the gills and skin. Metabolic intermediates in the muscle were altered by Th exposure, but no clear relationship was found. CAT and GST activities in the hepatic and muscular tissues of this species suggest that the enzymatic activities can be stimulated at the lowest Th levels and inhibited at the higher levels (mainly in 608.7 {mu}g L{sup -1}). The results of the cytogenetic assay contribute to this hypothesis because the higher toxicity in blood samples was found in juveniles exposed to 69.2 and 209.5 {mu}g L{sup -1} Th.

Cytogenetic dose-response and adaptive response in cells of ungulate species exposed to ionizing radiation

International Nuclear Information System (INIS)

Ulsh, B.A.; Miller, S.M.; Mallory, F.F.; Mitchel, R.E.J.; Morrison, D.P.; Boreham, D.R.

2004-01-01

In the studies reported here, the micronucleus assay, a common cytogenetic technique, was used to examine the dose-responses in fibroblasts from three ungulate species (white-tailed deer, woodland caribou, and Indian muntjac) exposed to high doses of ionizing radiation (1-4 Gy of 60 Co gamma radiation). This assay was also used to examine the effects of exposure to low doses (1-100 mGy) typical of what these species experience in a year from natural and anthropogenic environmental sources. An adaptive response, defined as the induction of resistance to a stressor by a prior exposure to a small 'adapting' stress, was observed after exposure to low doses. This work indicates that very small doses are protective for the endpoint examined. The same level of protection was seen at all adapting doses, including 1 radiation track per cell, the lowest possible cellular dose. These results are consistent with other studies in a wide variety of organisms that demonstrate a protective effect of low doses at both cellular and whole-organism levels. This implies that environmental regulations predicated on the idea that even the smallest dose of radiation carries a quantifiable risk of direct adverse consequences to the exposed organism require further examination. Cytogenetic assays provide affordable and feasible biological effects-based alternatives that are more biologically relevant than traditional contaminant concentration-based radioecological risk assessment

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

Directory of Open Access Journals (Sweden)

Diego Javier Grassi

2017-01-01

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

Cytogenetic, clinical, and cytologic characteristics of radiotherapy-related leukemias

International Nuclear Information System (INIS)

Philip, P.; Pedersen-Bjergaard, J.

1988-01-01

From 1978 to 1985, we observed eight cases of acute nonlymphocytic leukemia or preleukemia, three cases of acute lymphoblastic leukemia, and three cases of chronic myeloid leukemia in patients previously treated exclusively with radiotherapy for other tumor types. The latent period from administration of radiotherapy to development of leukemia varied between 12 and 243 months. Clonal chromosome aberrations reported previously as characteristic of acute nonlymphocytic leukemia following therapy with alkylating agents were observed in three of the eight patients with acute nonlymphocytic leukemia (5q- and -7) and in two of the three patients with acute lymphoblastic leukemia (-7 and 12p-). All three patients with radiotherapy-related chronic myeloid leukemia presented a t(9;22)(q34;q11). The results suggest that cytogenetic characteristics may reflect the etiology in radiation-induced acute leukemias, whereas radiation-related chronic myeloid leukemia does not seem to differ chromosomally from de novo cases of the disease

Cytogenetic investigation of subjects professionally exposed to radiofrequency radiation.

Science.gov (United States)

Maes, Annemarie; Van Gorp, Urbain; Verschaeve, Luc

2006-03-01

Nowadays, virtually everybody is exposed to radiofrequency radiation (RFR) from mobile phone base station antennas or other sources. At least according to some scientists, this exposure can have detrimental health effects. We investigated cytogenetic effects in peripheral blood lymphocytes from subjects who were professionally exposed to mobile phone electromagnetic fields in an attempt to demonstrate possible RFR-induced genetic effects. These subjects can be considered well suited for this purpose as their RFR exposure is 'normal' though rather high, and definitely higher than that of the 'general population'. The alkaline comet assay, sister chromatid exchange (SCE) and chromosome aberration tests revealed no evidence of RFR-induced genetic effects. Blood cells were also exposed to the well known chemical mutagen mitomycin C in order to investigate possible combined effects of RFR and the chemical. No cooperative action was found between the electromagnetic field exposure and the mutagen using either the comet assay or SCE test.

Análise citogenética em material de abortamento espontâneo Cytogenetic analysis of material from spontaneous abortion

Directory of Open Access Journals (Sweden)

Daniel Lorber Rolnik

2010-01-01

Full Text Available OBJETIVO: Descrever as anormalidades cromossômicas em material de abortamento espontâneo. MÉTODOS: Realizou-se compilação retrospectiva da análise de cariótipo em lâmina corada com Banda G por microscopia óptica e em material de 428 produtos de abortamento encaminhados para estudo. RESULTADOS: Foram observados 145 resultados normais (33,9% e 237 resultados anormais (55,4%. Em 46 amostras não houve crescimento celular (10,7%. As anormalidades numéricas foram as mais frequentes, destacando-se a trissomia do 16 (41 casos, a triplodia (27 casos, a monossomia do X (26 casos, a tetraploidia (13 casos e a trissomia do 15 (13 casos. CONCLUSÃO: As alterações citogenéticas representam importante causa de perdas gestacionais e sua detecção auxilia o aconselhamento genético do casal. A trissomia do cromossomo 16 é a alteração mais frequentemente encontrada.OBJECTIVE: To describe chromosomal abnormalities in spontaneous abortion material. METHODS: A retrospective compilation of karyotype analysis of slides stained with Band G was carried out by optical microscopy with materials of 428 abortion products referred for study. RESULTS: There were 145 normal results (33.9% and 237 abnormal results (55.4%. In 46 samples there was no cell growth (10.7%. Numerical abnormalities were the most frequent, especially trisomy 16 (41 cases, triplodia (27 cases, monosomy X (26 cases, tetraploidy (13 cases and trisomy 15 (13 cases. CONCLUSION: Cytogenetic alterations are an important cause of pregnancy loss and their detection helps the genetic counseling to the couple. Trisomy 16 is the most often found change.

Cytogenetic study of the offspring of atomic bomb survivors, Hiroshima and Nagasaki

International Nuclear Information System (INIS)

Awa, A.A.; Honda, Takeo; Neriishi, Shotaro

1989-07-01

This paper describes the results of a cytogenetic study on 8,322 children born to atomic bomb survivors (4,716 in Hiroshima and 3,606 in Nagasaki) and 7,976 controls (5,112 in Hiroshima and 2,864 in Nagasaki). Because no child was examined before age 12, the data may not be considered valid for the occurrence of chromosomal abnormalities that impose a high risk of early death. Thus, we will restrict our comparison to the sex-chromosome aneuploids and autosomal structural rearrangements of the balanced type, although other abnormalities encountered in this survey will be enumerated. Among the children born to exposed parents, 19 individuals (0.23 %) exhibited sex chromosome abnormalities and 23 (0.28 %) exhibited autosomal structural rearrangements, whereas among children born to unexposed parents, 24 (0.30 %) and 27 (0.34 %), respectively, were observed to exhibit these abnormalities. Only one child with a karyotype of 47,XY,+21 was found in the Hiroshima exposed group. Thus, there was no statistically significant difference in the overall frequencies of cytogenetically abnormal cases between the exposed (0.52 %) and control (0.64 %) populations. In Hiroshima, frequencies of chromosome abnormalities were similar between exposed and control groups (0.64 % vs 0.65 %). However, the value observed in the exposed group in Nagasaki was slightly lower (0.36 %) - though not statistically significant - than the value observed in the control group (0.63 %). This value of the Nagasaki control group was similar to that in Hiroshima. Family studies on probands with chromosome abnormalities revealed that the majority of cases (about 90 %) with autosomal structural rearrangements of the balanced type were inherited from one or the other parent. The mutation rates for these reaarangements were similar between the exposed and control groups, being 0.98 x 10 -4 per gamete per generation. (author)

Lack of Bystander Effects From High LET Radiation For Early Cytogenetic Endpoints.

Energy Technology Data Exchange (ETDEWEB)

Groesser, Torsten; Cooper, Brian; Rydberg, Bjorn

2008-05-07

The aim of this work was to study radiation-induced bystander effects for early cytogenetic end points in various cell lines using the medium transfer technique after exposure to high- and low-LET radiation. Cells were exposed to 20 MeV/ nucleon nitrogen ions, 968 MeV/nucleon iron ions, or 575 MeV/nucleon iron ions followed by transfer of the conditioned medium from the irradiated cells to unirradiated test cells. The effects studied included DNA double-strand break induction, {gamma}-H2AX focus formation, induction of chromatid breaks in prematurely condensed chromosomes, and micronucleus formation using DNA repair-proficient and -deficient hamster and human cell lines (xrs6, V79, SW48, MO59K and MO59J). Cell survival was also measured in SW48 bystander cells using X rays. Although it was occasionally possible to detect an increase in chromatid break levels using nitrogen ions and to see a higher number of {gamma}-H2AX foci using nitrogen and iron ions in xrs6 bystander cells in single experiments, the results were not reproducible. After we pooled all the data, we could not verify a significant bystander effect for any of these end points. Also, we did not detect a significant bystander effect for DSB induction or micronucleus formation in these cell lines or for clonogenic survival in SW48 cells. The data suggest that DNA damage and cytogenetic changes are not induced in bystander cells. In contrast, data in the literature show pronounced bystander effects in a variety of cell lines, including clonogenic survival in SW48 cells and induction of chromatid breaks and micronuclei in hamster cells. To reconcile these conflicting data, it is possible that the epigenetic status of the specific cell line or the precise culture conditions and medium supplements, such as serum, may be critical for inducing bystander effects.

Liposarcoma or lipoma: Does genetics change classic imaging criteria?

International Nuclear Information System (INIS)

Bidault, F.; Vanel, D.; Terrier, Ph.; Jalaguier, A.; Bonvalot, S.; Pedeutour, F.; Couturier, J.M.; Dromain, C.

2009-01-01

Differentiating benign from malignant fatty tumours has always been very difficult for both radiologists and pathologists. Cytogenetic and molecular genetic analyses provide complementary tools for differentiating soft tissue tumours. Our objective was to compare imaging criteria of malignancy with a new diagnostic gold standard, namely, pathological analysis combined with cytogenetic and molecular genetic analyses. Nineteen patients with a fatty tumour were included. All had computed tomography and/or magnetic resonance imaging examination before any biopsy or surgery. All had histopathological and cytogenetic and/or molecular genetic analyses. The imaging diagnosis of benign or malignant lesions was accurate in 15 cases, with 4 false positives for malignancy. Erroneous criteria were a large size (4 cases), and a mass that was not purely fatty. In conclusion, the main pitfall for a false positive radiological diagnosis of liposarcoma is certainly a large-sized tumour. Cytogenetic and molecular genetic analyses contribute to the diagnosis and can be performed at the same time with a core biopsy.

Genetic analysis of repeated, biparental, diploid, hydatidiform moles

DEFF Research Database (Denmark)

Sunde, Lone; Vejerslev, Lars O.; Jensen, Mie Poulsen

1993-01-01

for the abnormal development can be envisaged, environmental as well as genetic. To conform to current ideas of molar pathogenesis, it is suggested that the present conceptuses might have arisen from imbalances in imprinted genomic regions. This could be a consequence of uniparental disomy in critical regions......A woman presented with five consecutive pregnancies displaying molar morphology. In the fifth pregnancy, a non-malformed, liveborn infant was delivered. Genetic analyses (RFLP analysis, cytogenetics, flow cytometry) were performed in pregnancies II-V. It was demonstrated that these pregnancies...... originated in separate conceptions, all conceptuses were diploid, and all had maternally as well as paternally derived genetic markers. By cytogenetic analysis, aberrant heteromorphisms were noted; no other abnormalities were observed in chromosome structure or in DNA sequence. Many different causes...

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

Science.gov (United States)

Nirchio, Mauro; Paim, Fabilene G; Milana, Valentina; Rossi, Anna R; Oliveira, Claudio

2018-01-01

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.

Rare earths analysis of rock samples by instrumental neutron activation analysis, internal standard method

International Nuclear Information System (INIS)

Silachyov, I.

2016-01-01

The application of instrumental neutron activation analysis for the determination of long-lived rare earth elements (REE) in rock samples is considered in this work. Two different methods are statistically compared: the well established external standard method carried out using standard reference materials, and the internal standard method (ISM), using Fe, determined through X-ray fluorescence analysis, as an element-comparator. The ISM proved to be the more precise method for a wide range of REE contents and can be recommended for routine practice. (author)

A cytogenetic bio-monitoring of industrial radiographers occupationally exposed to low levels of ionizing radiation by using CBMN assay

International Nuclear Information System (INIS)

Shakeri, Mahsa; Changizi, Vahid; Zakeri, Farideh; Rajabpour, Mohammad Reza; Farshidpour, Mohammad Reza

2017-01-01

Industrial radiography is the process of using either gamma-emitting radionuclide sources or X-ray machines to examine the safety of industrial materials. The average annual effective dose in industrial radiography is one of the highest among radiation workers. The aim of this study was to investigate the cytogenetic effects of ionizing radiation in the peripheral blood lymphocytes of 60 industrial radiographers and 40 non-exposed individuals as the control group by using cytokinesis-block micronucleus (CBMN) assay. Totally, the frequencies of micronuclei (MN), nucleoplasmic bridges (NPBs) and nuclear buds (NBUDs) were significantly higher in the industrial radiographers than in the controls (p = 0.000). The mean MN frequency per 1000 binucleated cells in the industrial radiographers with last 5-y radiation dose of >100 mSv was significantly higher than those with ≤100 mSv (34.81 ± 12.70 vs. 26.33 ± 7.940, p = 0.024). The effect of age was observed in the control group and subjects with the age of >30 y showed significantly higher MN frequency compared with the subjects with the age of ≤30 y (9.45 ± 3.710 vs. 6.81 ± 3.050, p = 0.02). No obvious trend of increased MN as a function of either duration of employment or age or smoking status was observed in the industrial radiographers. The results show the increased levels of cytogenetic damages in the industrial radiographers. Even the workers exposed to the permissible doses are subjected to elevated frequencies of DNA damages. These findings confirm the importance of cytogenetic bio-monitoring program beside physical dosimetry, surveying radiation safety of equipment and periodic training of workers for improvement of safety and radiation protection. (authors)

Impact of the track structure of heavy charged particles on cytogenetic damage in human blood lymphocytes

Science.gov (United States)

Lee, Ryonfa; Nasonova, Elena; Sommer, Sylwetster; Hartel, Carola; Durante, Marco; Ritter, Sylvia

-ions). Furthermore, the aberration yield increased linearly with Fe-ion fluence. When aberrations were analyzed in first cycle G2 -PCC cells to account for the prolonged G2 arrest of damaged cells, the same trend was detected. However, the increase in the aberration yield with time and the saturation effect were less pronounced compared to metaphase samples. Altogether, these data show that the aberration analysis with multiple samplings is necessary for a reliable estimate of cytogenetic damage induced by charged particles. In particular, when damage is measured at one early time-point the effectiveness of low energy particles will be considerably underestimated. When the aberration spectrum induced by low energy C-ions and high en-ergy Fe-ions was compared, we did not find a difference. Preliminary data obtained with the high resolution mFISH-technique confirm this observation. (Work supported by BMBF, Bonn, under contract 02S8497)

Studies on the mutagenic and cytogenetic effects of irradiated wheat in mice

International Nuclear Information System (INIS)

Reddy, P.P.; Reddi, O.S.; Ebenezer, D.N.; Naidu, N.V.; Goud, S.N.

1978-01-01

A series of experiments were conducted to test the mutagenic and cytogenetic potentials of freshly and stored irradiated wheat in mice. In the first series, the effects of feeding of CBA mice for 8 weeks with the diet containing 60% of wheat freshly irradiated ( 3 H/He mice were undertaken. Feeding of both freshly and stored irradiated wheat showed neither an increase in dominant lethals and chromosomal aberrations nor a reduction in germ cells. In another series, the reproductive performance of the CBA females fed stored irradiated (75 krad) wheat was investigated and it was observed that the average total number of litters and the litter size did not vary from those of the females fed unirradiated wheat. (author)

[Application of chromosome microarray analysis for fetuses with multicystic dysplastic kidney].

Science.gov (United States)

Chen, Feifei; Lei, Tingying; Fu, Fang; Li, Ru; Zhang, Yongling; Jing, Xiangyi; Yang, Xin; Han, Jin; Zhen, Li; Pan, Min; Liao, Can

2016-12-10

To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. Conventional cytogenetic technique has revealed three fetuses (4.2%) with identifiable chromosomal aberrations. CMA analysis has detected pathogenic CNVs in 5 fetuses (16.7%), which included two well-known microdeletion or microduplication syndromes, i.e., 17q12 microdeletion syndrome and Williams-Beuren syndrome (WBS) and three submicroscopic imbalances at 4q35.2, 22q13.33, and 1p33. PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 are likely the causative genes. CMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique, and therefore has a significant role in prenatal diagnosis and genetic counseling. The detection rate of pathogenic CNVs in fetuses with MCDK was 16.7% by CMA. 17q12 microdeletion syndrome and WBS are associated with MCDK. Mutations of PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 genes may be the causes for MCDK.

Cytogenetic effects of sildenafil citrate (Viagra) on SWR/J mouse bone marrow cells.

Science.gov (United States)

Abou-Tarboush, Faisal Mohamed; Abdel-Samad, Mohamed Fathy

2010-10-01

The present study was conducted to investigate the cytogenetic effects of sildenafil citrate in SWR/J mouse bone marrow cells. Thirty-six males and 36 females were used and divided into four groups. Each group contained 18 animals (9 males and 9 females), weighing 30-35 g. These animals were orally administered with a single dose of 13, 26 or 40 mg/kg sildenafil citrate solution. A control group received normal saline in an identical condition. The animals were sacrificed at 12, 24 or 48 h, after the treatment. Chromosome aberrations were investigated in 50 metaphases per animal. No significant differences in the percentages of mitotic indices or in the frequencies of chromosome aberrations were observed between treated male and female mice at any doses or at any time intervals used, therefore, data from the two sexes were pooled when analyzed statistically. No significant (p < 0.05) differences in the percentages of mitotic indices or in the frequencies of chromosome aberrations were observed between sildenafil citrate-treated groups and the control group at any doses or at any time intervals used. However, the percentages of centromeric adhesions increased significantly (p < 0.01) in treated groups as compared with the control group at all doses and at all time intervals used. In conclusion, the results of the present study suggest that sildenafil citrate does not have cytogenetic effects on mouse bone marrow cells, but the centromeric adhesions induced by this drug need further studies to confirm them and to investigate the possible mechanism(s) responsible for such effect.

Standardization: using comparative maintenance costs in an economic analysis

OpenAIRE

Clark, Roger Nelson

1987-01-01

Approved for public release; distribution is unlimited This thesis investigates the use of comparative maintenance costs of functionally interchangeable equipments in similar U.S. Navy shipboard applications in an economic analysis of standardization. The economics of standardization, life-cycle costing, and the Navy 3-M System are discussed in general. An analysis of 3-M System maintenance costs for a selected equipment, diesel engines, is conducted. The potential use of comparative ma...

Cytogenetic characteristics of children who suffered as a result of the Chernobyl power plant accident

International Nuclear Information System (INIS)

Vorobtsova, I.E.; Kolyubaeva, S.N.; Vorob'eva, M.V.; Korotkov, D.V.; Komar, V.E.

1993-01-01

Cytogenetic examinations of children living in the St. Peterburg district who suffered as a result of the Chernobyl power plant accident (liquidators' children and children evacuated from radioactive pollution areas) and of control children were carried out. The chromosomal system stability was assessed by several parameters: spontaneous levels of chromosomal radiosensitivity in in vitro irradiation of lymphocytes in dose 1.5 Gy of 60 Co γ-irradiation. Children with an increased incidence of chromosomal aberrations and an increased chromosomal radiosensitivity were referred to a risk group

Cytogenetics for dosimetry in cases of radiation accidents and assessing the safety of irradiated food material

International Nuclear Information System (INIS)

Natarajan, A.T.; Kesavan, P.C.

2005-01-01

One of the many areas of research initiated by Swaminathan at the Botany Division of the Indian Agricultural Research Institute, New Delhi was radiation cytogenetics, which involves study of induced chromosomal aberrations. These studies had impact not only on elucidating basic mechanisms involved in the formation of chromosomal aberrations, but also several practical applications related to human health. In this review, we briefly summarize two applications, namely biological dosimetry following radiation accidents and safety of irradiated food material. (author)

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.

Cytogenetic investigations of chronic lymphocytic leukemia.

Science.gov (United States)

Wren, Catherine; Moriarty, Helen; Marsden, Katherine; Tegg, Elizabeth

2010-04-15

This study aimed to determine which culture method would yield the highest culture success rate, mitotic index, banding resolution, and abnormality rate in investigation of patients with chronic lymphocytic leukemia (CLL). A range of culture techniques for conventional cytogenetic (CC) analyses was compared: 24-hour unstimulated, 72 hours incubation with additional fetal calf serum, 72 hours stimulation with interleukin 4, 72 hours stimulation with lipopolysaccharide (LPS), 72 hours stimulation with TPA (12-O-tetradecanoylphorbol 13-acetate), and 72 hours stimulation with CpG-oligonucleotide DSP30 + Interleukin-2 (IL-2). CC abnormality rates were also compared to fluorescence in situ hybridization (FISH) results using probes for CLL (LSI D13S319/13q34/CEP 12: LSI ATM/p53). Forty-five samples from 24 patients (consisting of 11 newly diagnosed and 13 previously diagnosed patients) were included. For CC, a 100.0% culture success rate was achieved (n = 45) by means of an EDTA (ethylenediaminetetraacetic acid) peripheral blood sample with an associated 62.5% CC abnormality rate (n = 24). FISH detected an abnormality rate of 75.0% (n = 24). The combined CC and FISH abnormality rate was 87.5% (n = 24). This study demonstrates that CC that uses TPA and DSP30 + IL-2 on EDTA peripheral blood is effective in the investigation of CLL and may be used as a supplement to FISH studies. Copyright 2010 Elsevier Inc. All rights reserved.

Cytogenetic monitoring of hospital workers exposed to low-level ionizing radiation

International Nuclear Information System (INIS)

Bigatti, P.; Lamberti, L.; Ardito, G.; Armellino, F.

1988-01-01

In the present study the cytogenetic effects in hospital workers exposed to low-level radiation were evaluated. Samples of peripheral blood were collected from 63 subjects working in radiodiagnostics and from 30 subjects, working in the same hospitals, who were used as controls. A higher number of cells with chromosome-type aberrations (CA) was observed in the exposed workers vs. the controls and the difference was statistically significant (p<0.05). No correlation was, on the contrary, found between CA and years of exposure. A significant difference was observed in the incidence of cells with CA between smokers and non-smokers, but in the control group only. In contrast, in the workers exposed to ionizing radiation, the frequency of cells with CA was very similar in smokers and non-smokers. 13 refs.; 4 tabs

Cytogenetic damage related to low levels of methyl mercury contamination in the Brazilian Amazon

Directory of Open Access Journals (Sweden)

MARÚCIA I. M. AMORIM

2000-12-01

Full Text Available The mercury rejected in the water system, from mining operations and lixiviation of soils after deforestation, is considered to be the main contributors to the contamination of the ecosystem in the Amazon Basin. The objectives of the present study were to examine cytogenetic functions in peripheral lymphocytes within a population living on the banks of the Tapajós River with respect to methylmercury (MeHg contamination, using hair mercury as a biological indicator of exposure. Our investigation shows a clear relation between methylmercury contamination and cytogenetic damage in lymphocytes at levels well below 50 micrograms/gram, the level at which initial clinical signs and symptoms of mercury poisoning occur. The first apparent biological effect with increasing MeHg hair level was the impairment of lymphocyte proliferation measured as mitotic index (MI. The relation between mercury concentration in hair and MI suggests that this parameter, an indicator of changes in lymphocytes and their ability to respond to culture conditions, may be an early marker of cytotoxicity and genotoxicity in humans and should be taken into account in the preliminary evaluation of the risks to populations exposed in vivo. This is the first report showing clear cytotoxic effects of long-term exposure to MeHg. Although the results strongly suggest that, under the conditions examined here, MeHg is both a spindle poison and a clastogen, the biological significance of these observations are as yet unknown. A long-term follow-up of these subjects should be undertaken.

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

Directory of Open Access Journals (Sweden)

E.M. Lima

2004-12-01

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