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human cytogenetics

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https://www.readbyqxmd.com/read/27915083/pharmacodynamic-and-cytogenetic-evaluation-in-cyp2c19-2-and-cyp2c19-3-allelomorphism-in-south-indian-population-with-clopidogrel-therapy
#1
Javeed Ahmad Tantray, K Pratap Reddy, Kaiser Jamil, Y Shiva Kumar
BACKGROUND: Genetic factors play a significant role in pathogenesis of most diseases of heart. The present study was undertaken to correlate coronary artery disease with demographical, biochemical alterations, SNPs, gene expression and chromosomal abnormalities and for further enlightening the investigation in this field. METHODS: 150 patients taking clopidogrel drug were selected and single nucleotide polymorphism was done by PCR-RFLP techniques. With the same patients cytogenetic analysis was carried out on leukocyte cultures by karyotyping...
November 11, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27910033/cytogenetic-resources-and-information
#2
Etienne De Braekeleer, Jean-Loup Huret, Hossain Mossafa, Philippe Dessen
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...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27910032/cytogenetic-nomenclature-and-reporting
#3
Marian Stevens-Kroef, Annet Simons, Katrina Rack, Rosalind J Hastings
A standardized nomenclature is critical for the accurate and consistent description of genomic changes as identified by karyotyping, fluorescence in situ hybridization and microarray. The International System for Human Cytogenomic Nomenclature (ISCN) is the central reference for the description of karyotyping, FISH, and microarray results, and provides rules for describing cytogenetic and molecular cytogenetic findings in laboratory reports. These laboratory reports are documents to the referring clinician, and should be clear, accurate and contain all information relevant for good interpretation of the cytogenetic findings...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27910024/multicolor-karyotyping-and-fluorescence-in-situ-hybridization-banding-mcb-mband
#4
Thomas Liehr, Moneeb A K Othman, Katharina Rittscher
Multicolor fluorescence in situ hybridization (mFISH) approaches are routine applications in tumor as well as clinical cytogenetics nowadays. The first approach when thinking about mFISH is multicolor karyotyping using human whole chromosome paints as probes; this can be achieved by narrow-band filter-based multiplex-FISH (M-FISH) or interferometer/spectroscopy-based spectral karyotyping (SKY). Besides, various FISH-based banding approaches were reported in the literature, including multicolor banding (MCB/mBAND) the latter being evaluated by narrow-band filters, and using specific software...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27910017/fluorescence-in-situ-hybridization-probe-preparation
#5
Doron Tolomeo, Roscoe R Stanyon, Mariano Rocchi
The public human genome sequencing project utilized a hierarchical approach. A large number of BAC/PAC clones, with an insert size approximate from 50 kb to 300 kb, were identified and finely mapped with respect to the Sequence Tagged Site (STS) physical map and with respect to each other. A "golden path" of BACs, covering the entire human genome, was then selected and each clone was fully sequenced. The large number of remaining BACs was not fully sequenced, but the availability of the end sequence (~800-1000 bp) at each end allowed them to be very precisely mapped on the human genome...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27910015/chromosome-recognition
#6
Thomas S K Wan, Eleanor K C Hui, Margaret H L Ng
Chromosomal analysis of human cells serves to characterize aberrations of chromosome number and structure. Individual chromosome can be identified precisely by recognition of its morphological characteristics and staining patterns according to specific landmarks, regions, and bands as described in the ideogram. Since the quality of metaphases obtained from malignant cells is generally poor for karyotyping, a practical and accurate chromosome recognition training guide is mandatory for a trainee or newly employed cytogenetic technologist in a cancer cytogenetics laboratory...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27907031/in-vitro-pre-clinical-validation-of-suicide-gene-modified-anti-cd33-redirected-chimeric-antigen-receptor-t-cells-for-acute-myeloid-leukemia
#7
Kentaro Minagawa, Muhammad O Jamil, Mustafa Al-Obaidi, Larisa Pereboeva, Donna Salzman, Harry P Erba, Lawrence S Lamb, Ravi Bhatia, Shin Mineishi, Antonio Di Stasi
BACKGROUND: Approximately fifty percent of patients with acute myeloid leukemia can be cured with current therapeutic strategies which include, standard dose chemotherapy for patients at standard risk of relapse as assessed by cytogenetic and molecular analysis, or high-dose chemotherapy with allogeneic hematopoietic stem cell transplant for high-risk patients. Despite allogeneic hematopoietic stem cell transplant about 25% of patients still succumb to disease relapse, therefore, novel strategies are needed to improve the outcome of patients with acute myeloid leukemia...
2016: PloS One
https://www.readbyqxmd.com/read/27896557/cytotoxic-and-apoptotic-activities-of-extract-of-amaranthus-spinosus-l-in-allium-cepa-and-human-erythrocytes
#8
V Prajitha, J E Thoppil
The present study examined the apoptosis inducing effects of Amaranthus spinosus L. aqueous extract in Allium cepa root meristematic cells and human erythrocytes. Cytogenetic assay revealed many apoptosis inducing cytogenetic aberrations viz., cytoplasmic breakage, cytoplasmic disintegration, cytoplasmic shrinkage, receding of cytoplasm, cytoplasmic vacuolation, enucleated cell, ghost cell, nuclear vacuolation, nuclear fragmentation and nuclear disintegration. A remarkable modification of red blood cell surface morphology was observed in the result of RBC assay...
November 28, 2016: Cytotechnology
https://www.readbyqxmd.com/read/27894694/the-cytokinesis-block-micronucleus-cbmn-assay-in-human-populations-exposed-to-styrene-a-systematic-review-and-meta-analysis
#9
REVIEW
Solange Costa, Marcello Ceppi, Carla Costa, Susana Silva, Cristiana Pereira, Blanca Laffon, Stefano Bonassi, João Paulo Teixeira
Styrene is a building-block of several compounds used in a wide array of materials and products. The most important human exposure to this substance occurs in industrial settings, especially among reinforced-plastics industry workers. The effect of occupational exposure to styrene on cytogenetics biomarkers has been previously reviewed with positive association observed for chromosomal aberrations, and inconclusive data for the micronucleus assay. Some limitations were noted in those studies, including inadequate exposure assessment and poor epidemiological design...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27894693/genotoxicity-of-ethylene-oxide-a-review-of-micronucleus-assay-results-in-human-population
#10
REVIEW
Manosij Ghosh, Lode Godderis
Ethylene oxide (EtO) has been categorized as "carcinogenic to humans (Group 1)" by the IARC. While several epidemiological studies have reported carcinogenicity and EtO-Hb formation; information from cytogenetic endpoints are rather inconclusive. In the present review, we focus on the results of eleven studies which have reported the results of micronucleus assay in EtO exposed workers. We have critically reviewed these studies based on the exposure assessment, concentration and duration, and compared the sensitivity of micronucleus assay to other reported endpoints like EtO-Hb, CA, SCE...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27887567/fluorescence-chromosome-banding-and-fish-mapping-in-perennial-ryegrass-lolium-perenne-l
#11
Helal A Ansari, Nicholas W Ellison, Shalome A Bassett, Syed W Hussain, Gregory T Bryan, Warren M Williams
BACKGROUND: The unambiguous identification of individual chromosomes is a key part of the genomic characterization of any species. In this respect, the development and application of chromosome banding techniques has revolutionised mammalian and especially, human genomics. However, partly because of the traditional use of chromosome squash preparations, consistent fluorescence banding has rarely been achieved in plants. Here, successful fluorescence chromosome banding has been achieved for the first time in perennial ryegrass (Lolium perenne), a forage and turf grass with a large genome and a symmetrical karyotype with chromosomes that are difficult to distinguish...
November 25, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27884166/tigar-cooperated-with-glycolysis-to-inhibit-the-apoptosis-of-leukemia-cells-and-associated-with-poor-prognosis-in-patients-with-cytogenetically-normal-acute-myeloid-leukemia
#12
Sixuan Qian, Jianyong Li, Ming Hong, Yu Zhu, Huihui Zhao, Yue Xie, Jiayu Huang, Yun Lian, Yanru Li, Shuai Wang, Jianping Mao, Yaoyu Chen
BACKGROUND: Cancer cells show increased glycolysis and take advantage of this metabolic pathway to generate ATP. The TP53-induced glycolysis and apoptosis regulator (TIGAR) inhibits aerobic glycolysis and protects tumor cells from intracellular reactive oxygen species (ROS)-associated apoptosis. However, the function of TIGAR in glycolysis and survival of acute myeloid leukemia cells remains unclear. METHODS: We analyzed TIGAR expression in cytogenetically normal (CN-) AML patients and the correlations with clinical and biological parameters...
November 25, 2016: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/27883910/influence-of-reduced-glutathione-on-end-joining-of-dna-double-strand-breaks-cytogenetical-and-molecular-approach
#13
Nitin Ghoshal, Sheetal Sharma, Atanu Banerjee, Sillarine Kurkalang, Sathees C Raghavan, Anupam Chatterjee
Radiation induced DNA double-strand breaks (DSB) are the major initial lesions whose misrejoining may lead to exchange aberrations. However, the role of glutathione (GSH), a major cellular thiol, in regulating cell's sensitivity to DNA damaging agents is not well understood. Influence of endogenous GSH on the efficiency of X-rays and bleomycin (Blem) induced DNA DSBs end-joining has been tested here cytogenetically, in human lymphocytes and Hct116 cells. In another approach, oligomeric DNA (75bp) containing 5'-compatible and non-compatible overhangs mimicking the endogenous DSB were for rejoining in presence of cell-free extracts from cells having different endogenous GSH levels...
November 9, 2016: Mutation Research
https://www.readbyqxmd.com/read/27869160/pot1-ob-fold-mutations-unleash-telomere-instability-to-initiate-tumorigenesis
#14
P Gu, Y Wang, K K Bisht, L Wu, L Kukova, E M Smith, Y Xiao, S M Bailey, M Lei, J Nandakumar, S Chang
Chromosomal aberrations are a hallmark of human cancers, with complex cytogenetic rearrangements leading to genetic changes permissive for cancer initiation and progression. Protection of Telomere 1 (POT1) is an essential component of the shelterin complex and functions to maintain chromosome stability by repressing the activation of aberrant DNA damage and repair responses at telomeres. Sporadic and familial mutations in the oligosaccharide-oligonucleotide (OB) folds of POT1 have been identified in many human cancers, but the mechanism underlying how hPOT1 mutations initiate tumorigenesis has remained unclear...
November 21, 2016: Oncogene
https://www.readbyqxmd.com/read/27848075/recorded-interviews-with-human-and-medical-geneticists
#15
Peter S Harper
A series of 100 recorded interviews with human and medical geneticists has been carried out and some general results are reported here. Twenty countries across the world are represented, mostly European, with a particular emphasis on the United Kingdom. A priority was given to older workers, many of whom were key founders of human genetics in their own countries and areas of work, and over 20 of whom are now no longer living. The interviews also give valuable information on the previous generation of workers, as teachers and mentors of the interviewees, thus extending the coverage of human genetics back to the 1930s or even earlier...
November 15, 2016: Human Genetics
https://www.readbyqxmd.com/read/27842493/diversity-and-distribution-of-alpha-satellite-dna-in-the-genome-of-an-old-world-monkey-cercopithecus-solatus
#16
Lauriane Cacheux, Loïc Ponger, Michèle Gerbault-Seureau, Florence Anne Richard, Christophe Escudé
BACKGROUND: Alpha satellite is the major repeated DNA element of primate centromeres. Evolution of these tandemly repeated sequences has led to the existence of numerous families of monomers exhibiting specific organizational patterns. The limited amount of information available in non-human primates is a restriction to the understanding of the evolutionary dynamics of alpha satellite DNA. RESULTS: We carried out the targeted high-throughput sequencing of alpha satellite monomers and dimers from the Cercopithecus solatus genome, an Old World monkey from the Cercopithecini tribe...
November 14, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27836923/single-nucleotide-polymorphism-array-snp-a-improves-the-identification-of-chromosomal-abnormalities-by-metaphase-cytogenetics-in-myelodysplastic-syndrome
#17
Fernanda Borges da Silva, João Agostinho Machado-Neto, Virginia Helena Leira Lipoli Bertini, Elvira Deolinda Rodrigues Pereira Velloso, Cristina Alonso Ratis, Rodrigo T Calado, Belinda Pinto Simões, Eduardo Magalhães Rego, Fabiola Traina
AIMS: The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal haematopoietic stem cell disorders characterised by inefficient haematopoiesis and risk of progression to acute myeloid leukaemia. Metaphase cytogenetics is an extremely valuable clinical tool in the management of haematological malignancies. However, metaphase cytogenetics requires cellular proliferation, its sensitivity and resolution depends on the proportion of clonal cells in the sample and size of the lesion, respectively...
November 11, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27821535/copy-number-variation-as-a-genetic-basis-for-heterotaxy-and-heterotaxy-spectrum-congenital-heart-defects
#18
Jason R Cowan, Muhammad Tariq, Chad Shaw, Mitchell Rao, John W Belmont, Seema R Lalani, Teresa A Smolarek, Stephanie M Ware
Genomic disorders and rare copy number abnormalities are identified in 15-25% of patients with syndromic conditions, but their prevalence in individuals with isolated birth defects is less clear. A spectrum of congenital heart defects (CHDs) is seen in heterotaxy, a highly heritable and genetically heterogeneous multiple congenital anomaly syndrome resulting from failure to properly establish left-right (L-R) organ asymmetry during early embryonic development. To identify novel genetic causes of heterotaxy, we analysed copy number variants (CNVs) in 225 patients with heterotaxy and heterotaxy-spectrum CHDs using array-based genotyping methods...
December 19, 2016: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/27811013/characteristics-of-a-thyroid-carcinoma-cell-line-derived-from-spinal-metastasis
#19
Zhenhua Zhou, Yan Li, Xu Yan, Xudong Wang, Su Chen, Jianru Xiao
A thyroid carcinoma cell line named THY28 was established through primary culture of the surgical specimens, which were derived from a Chinese patient with spinal metastasis. The cell morphology, growth kinetics, cell cycle, chromosome number, cell capability of migration, tumorigenicity, cytogenetic features of the cell line were investigated. THY28 cells were  subcultured in vitro for more than 50 passages with a human karyotype. The modal number of its chromosomes was mainly from 67 to 85. The doubling time of THY28 cells was 56 hours...
November 3, 2016: Bioscience Reports
https://www.readbyqxmd.com/read/27790464/cytogenetic-analysis-for-suspected-chromosomal-abnormalities-a-five-years-experience
#20
Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor
INTRODUCTION: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. AIM: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
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