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A karyotype of a normal female (46,XX) (Reproduced courtesy of Human Genome Centre, Universiti Sains Malaysia, Malaysia) Blood is collected in sterile tubes containing sodium heparin. Whole blood, leucocytes separated from red blood cells or purified lymphocytes are put in culture medium supplemented with serum and antibiotics. Then, mitogen is added to induce mitosis. Once the cultures are set, they are incubated at 37oC for 72 hours in a CO 2 incubator. The cultures
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... X-chromosome is maternally derived and the Y-chromosome is paternally derived. The karyotypes of a normal male (Figure 1) and female (Figure 2) are presented. Except in the case of mosaic individuals (where they have two or more populations of cells which differ in chromosome number), all the cells of an individual have the same chromosome complement in their diploid cells. ...
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Citations
... There are many applications of cytogenetic methods, e.g., (1) identification of chromosomes (karyotyping), (2) diagnosis of genetic disorders (deletion, translocation of chromosomal matter, fragmentation, missing chromosomes) [1,2]. One application involves the quantification of the amount of radiation absorbed by a living organism by counting the number of centromeres and chromosomes [3][4][5][6]. ...
... There are many applications of cytogenetic methods, e.g., (1) identification of chromosomes (karyotyping), (2) diagnosis of genetic disorders (deletion, translocation of chromosomal matter, fragmentation, missing chromosomes) [1,2]. One application involves the quantification of the amount of radiation absorbed by a living organism by counting the number of centromeres and chromosomes [3][4][5][6]. ...
... Many novel techniques have been developed over the years, that increase the contrast of the chromosomes vs. the background of their substrates, as well as the contrast of the centromeres within. the chromosomes [1]. ...
Many chromosome assays rely on the quantification of chromosome abnormalities in cells, and one important abnormality is the existence of more than one centromere for each chromosome. The quantification of such abnormalities has been studied before. However, this process is labor-intensive and time consuming. Thus, this assay is challenging for ex-laboratory applications, where speed is required. We present a visualization method that uses a cheap stain—DAPI, long (e.g., high-resolution) chromosomes and our modified C-banding method for labeling chromosomes. The labeled chromosomes can then be easily seen with a conventional and readily available fluorescence microscopy system. This method achieves an acceleration of the detection of the presence of constitutive heterochromatin in chromosomal centromeres by more than 10 times, to ~2 h, in Human lymphocyte cells and in cells of the human Jurkat line. This new procedure will ultimately provide an easier and cheaper alternative to FISH/PNA probes, or the classic Giemsa staining method. Simplification and reduction in time of the overall procedure will enable the utilization of centromere-counting assays in laboratory and ex-laboratory applications, including in emergency response.
... The emergence of new technologies of molecular cytogenetics, based mainly on in-situ hybridization of nucleic acids, has significantly expanded the possibilities of chromosomal diagnostics. The method of fluorescent in-situ hybridization makes it possible to objectively identify individual chromosomes and their individual sections on metaphase plates (chromosomes in a state of maximum condensation and visualization) or interphase nuclei (decondensed chromosomes, without a clear morphological structure) based on the characteristics of their molecular genetic structure (Ponnuraj, 2011). Cytogenetic analysis makes it possible to assess the degree of genetic risk of the influence of mutagenic environmental factors on the health of the population consuming food products grown in contaminated areas (Obe et al., 2002;Bonassi et al., 2005;Mateuca et al., 2006;Norppa et al., 2006). ...
This chapter provides an overview of assessing the risk of pesticide exposure to the environment and public health using various in vitro and in vivo model systems, methods for assessing pesticide genotoxicity using cytogenetic markers, and procedures and principles for evaluating acute and chronic risk of pesticide exposure.
Analysis of the results of studying the genotoxic activity of pesticides in model test systems showed that many of them have mutagenic and carcinogenic effects. The classical methods for assessing genotoxicity by cytogenetic markers include micronucleus test and DNA comet method taking into account chromosomal aberrations. Determining the accumulation of pesticides in certain foods allows you to determine the effect of pesticides on components of the food chain and to assess the short and long-term risks of pesticide exposure to human health. The priority factor for assessing short-term and long-term risks is food safety monitoring based on determining the accumulation of pesticides in food of plant and animal origin.
It is extremely important to control pesticide residues both in products grown in areas contaminated with pesticides and in the retail network. Using an integrated assessment, from model system to population studies, will provide more complete information on the mechanisms of exposure to pesticides and their hazards. The results of a comprehensive risk assessment potentially serve to better inform resource managers and others about the nature and extent of the adverse effects of pesticides on humans (e.g., residents, workers) and flora and fauna. Risk information will enable you to make the right decisions to protect people and the environment from pesticides.
... 7 Morphology, structure, pathology, function, and behavioral study of chromosomes during somatic cell division (mitosis) and germ cell division (meiosis) and their influence on phenotype is known as cytogenetics. 8,9 Cytogenetic techniques are mainly categorized into conventional (karyotyping) and molecular cytogenetics. 7,10 The history of cytogenetics goes back to the era of the 1840s where Nageli first described transitory cytoblasts, Waldeyer coined the term "chromosome", 9 and Mendel's laws explained the behavior of chromosomes in germ cells. ...
Aim:
To evaluate the application of cytogenetic techniques in determining the diagnosis, prognosis, and therapeutics in oral cancer.
Background:
Genetic aberrations that play an important role in oral oncogenesis demand substantial research for in-depth characterization of the tumor. Cytogenetic techniques have the potential to detect these aberrations. This review highlights about various cytogenetic approaches in cancer and how these findings support its application in the field of oral oncology.
Methods:
Google scholar search was done for articles on cancer cytogenetics, and in particular, PubMed database was queried for articles published from 2015 to 2020 using keywords cytogenetics, chromosomal aberrations, conventional cytogenetics, karyotyping, banding techniques, molecular cytogenetics, fluorescent in situ hybridization, spectral karyotyping, comparative genomic hybridization, multiplex ligation probe analysis, and next-generation sequencing (NGS) in oral cancer. Abstracts were reviewed, and relevant full text was accessed to extract the cytogenetic findings in oral cancer.
Results:
Data regarding various cytogenetic approaches from conventional to molecular techniques have been published in oral cancer. They convey a highly complex cytogenetic finding from gross chromosomal aberrations to specific gene mutations in oral cancer.
Conclusion:
Crucial information in the development and progression of oral cancer is achieved through cytogenetic findings in particular with the molecular cytogenetic techniques. Novel technologies like NGS have emerged in recent years that hold promise in the detection of these alterations more efficiently.
Clinical significance:
An appraisal of cytogenetic analysis in oral cancer helps to determine the diagnosis and the most important prognosticators. It assists in building targeted therapies for patient benefit.
... Then, suitable medium supplemented with fetal bovine serum, L-glutamine, and antibiotics are added and the cultures are incubated at 37ºC in 5% CO 2 incubator. The cells are harvested at 8-10 days after culture, subjected to routine hypotonic and fixative treatments as for whole blood culture, and then the chromosomes are analyzed [61]. ...
Despite the significant advances in understanding the molecular basis of hearing loss, precise identification of genetic cause still presents some difficulties, owing to phenotypical variation. Gene discovery efforts for hearing disorders are complicated by extreme heterogeneity. Mutations in some of these genes, such as GJB2, MYO7A, CDH23, OTOF, SLC26A4, TMC1, are quite common and responsible for hearing loss. Clinical exome sequencing is a highly complex molecular test that analyzes the exons or coding regions of thousands of genes simultaneously, using next-generation sequencing techniques. The development of a biological method for the repair, regeneration, and replacement of hair cells of the damaged cochlea has the potential to restore normal hearing. At present, gene therapy and stem cells are two promising therapeutic applications for hearing disorders. Gene therapy and stem cell treatment have still a long way to go before these treatments will be available to use in humans. Therefore, existing measures must focus on the prevention of hearing loss to decrease the frequency of genetic hearing loss. Over time, genetic diagnostic tests will become available most rapidly, followed by targeted gene therapy or various permutations of progenitor cell transplantation, and eventually, the preventive interventions for a wider range of hearing impaired patients.
... Various Specialized Cytogenetic methods for chromosome analysis: [3] 1. Whole blood -culture: It is one of the most easily accessible with good growth potential after mitogenic stimulation. 2. Short-term culture: It is used for preparation of chromosomes by the peripheral blood culture. ...
In this modern era, oral health practice has become evidence-based dentistry. Genes are hereditary blueprints of human
beings. Studies at the molecular levels have revolutionized maxillofacial disorders, and genomic information has done wonders
to the cause. This article reviews the previous and current application of human genetics in craniofacial development and
disorders, which may lead to individualized treatment and prevention plans in the future.
Background: The diagnosis of hematopoietic neoplasms is one of the more challenging areas of pathology, requiring correlation of clinical, morphologic, immunophenotypic and cytogenetic data for meaningful classification. The rational classification of hematopoietic neoplasms is based on the separation of diseases with distinct clinicopathologic features. Recurrent chromosomal abnormalities that correlate with morphologic, clinical and/or immunophenotypic subsets of hematologic maaignancies provide further objective criteria for distinction.
This review will discuss about cytogenetic itself, both conventional and molecular methods and its application on hematologic malignancies.
Discussion: Cytogenetics is the study of the structure and properties of chromosomes, chromosomal behaviour during somatic cell division in growth and development (mitosis) and germ cell division in reproduction (meiosis), chromosomal influence on the phenotype and the factors that cause chromosomal changes. In Cytogenetics, there are two main methods; classical methods like karyotyping using GTG banding technique and molecular methods like fluorescent in situ hybridization (FISH).
Recognizing the association between certain cytogenetic abnormalities and specific morphologic and clinical features, the World Health Organization (WHO) has re-classified tumour of hematopoeitic and limphoid tissues based on cytogenetics. Some cytogenetic abnormalities are not specific to either morphologic subsets of disease or associated with specific clinical features; however, they remain valuable independent prognostic variables. Such findings have been used to stratify patients with MDS, chronic lymphocytic leukemia (CLL) and precursor B -cell acute lymphoblastic leukemia (ALL) into favorable and unfavorable prognostic categories, thus allowing for varied intensities of therapy.
Conclusion: Application of cytogenetic analysis for the identification of specific lesions and insurance of products specific for given type of hematologic malignancies, could move us to a period of personalised, molecularly targeted therapy against malignant molecules of each single patient.
Keywords: cytogenetics – FISH – kariotyping – chromosome – hematologic malignancies - leukemia
