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Hradilová</title> <meta name="description" content="Search results for: Šárka Hradilová"> <meta name="keywords" content="Šárka Hradilová"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg navbar-light"> <a class="navbar-brand" href="https://waset.org"> <img src="https://cdn.waset.org/static/images/wasetc.png" alt="Open Science Research Excellence" title="Open Science Research Excellence" /> </a> <button class="d-block d-lg-none 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action="https://publications.waset.org/abstracts/search"> <div id="custom-search-input"> <div class="input-group"> <i class="fas fa-search"></i> <input type="text" class="search-query" name="q" placeholder="Author, Title, Abstract, Keywords" value="Šárka Hradilová"> <input type="submit" class="btn_search" value="Search"> </div> </div> </form> </div> </div> <div class="row mt-3"> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Commenced</strong> in January 2007</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Frequency:</strong> Monthly</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Edition:</strong> International</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Paper Count:</strong> 8</div> </div> </div> </div> <h1 class="mt-3 mb-3 text-center" style="font-size:1.6rem;">Search results for: Šárka Hradilová</h1> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">8</span> Comparison of the Toxicity of Silver and Gold Nanoparticles in Murine Fibroblasts</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=%C5%A0%C3%A1rka%20Hradilov%C3%A1">Šárka Hradilová</a>, <a href="https://publications.waset.org/abstracts/search?q=Ale%C5%A1%20Pan%C3%A1%C4%8Dek"> Aleš Panáček</a>, <a href="https://publications.waset.org/abstracts/search?q=Radek%20Zbo%C5%99il"> Radek Zbořil</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Nanotechnologies are considered the most promising fields with high added value, brings new possibilities in various sectors from industry to medicine. With the growing of interest in nanomaterials and their applications, increasing nanoparticle production leads to increased exposure of people and environment with ‘human made’ nanoparticles. Nanoparticles (NPs) are clusters of atoms in the size range of 1–100 nm. Metal nanoparticles represent one of the most important and frequently used types of NPs due to their unique physical, chemical and biological properties, which significantly differ from those of bulk material. Biological properties including toxicity of metal nanoparticles are generally determined by their size, size distribution, shape, surface area, surface charge, surface chemistry, stability in the environment and ability to release metal ions. Therefore, the biological behavior of NPs and their possible adverse effect cannot be derived from the bulk form of material because nanoparticles show unique properties and interactions with biological systems just due to their nanodimensions. Silver and gold NPs are intensively studied and used. Both can be used for instance in surface enhanced Raman spectroscopy, a considerable number of applications of silver NPs is associated with antibacterial effects, while gold NPs are associated with cancer treatment and bio imaging. Antibacterial effects of silver ions are known for centuries. Silver ions and silver-based compounds are highly toxic to microorganisms. Toxic properties of silver NPs are intensively studied, but the mechanism of cytoxicity is not fully understood. While silver NPs are considered toxic, gold NPs are referred to as toxic but also innocuous for eukaryotic cells. Therefore, gold NPs are used in various biological applications without a risk of cell damaging, even when we want to suppress the growth of cancer cells. Thus, gold NPs are toxic or harmless. Because most studies comparing particles of various sizes prepared in various ways, and testing is performed on different cell lines, it is very difficult to generalize. The novelty and significance of our research is focused to the complex biological effects of silver and gold NPs prepared by the same method, have the same parameters and the same stabilizer. That is why we can compare the biological effects of pure nanometals themselves based on their chemical nature without the influence of other variable. Aim of our study therefore is to compare the cytotoxic effect of two types of noble metal NPs focusing on the mechanisms that contribute to cytotoxicity. The study was conducted on murine fibroblasts by selected common used tests. Each of these tests monitors the selected area related to toxicity and together provides a comprehensive view on the issue of interactions of nanoparticles and living cells. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=cytotoxicity" title="cytotoxicity">cytotoxicity</a>, <a href="https://publications.waset.org/abstracts/search?q=gold%20nanoparticles" title=" gold nanoparticles"> gold nanoparticles</a>, <a href="https://publications.waset.org/abstracts/search?q=mechanism%20of%20cytotoxicity" title=" mechanism of cytotoxicity"> mechanism of cytotoxicity</a>, <a href="https://publications.waset.org/abstracts/search?q=silver%20nanoparticles" title=" silver nanoparticles"> silver nanoparticles</a> </p> <a href="https://publications.waset.org/abstracts/41976/comparison-of-the-toxicity-of-silver-and-gold-nanoparticles-in-murine-fibroblasts" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/41976.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">254</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">7</span> Lightweight Materials for Building Finishing</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Sarka%20Keprdova">Sarka Keprdova</a>, <a href="https://publications.waset.org/abstracts/search?q=Nikol%20Zizkova"> Nikol Zizkova</a> </p> <p class="card-text"><strong>Abstract:</strong></p> This paper focuses on the presentation of results which were obtained as a part of the project FR-TI 3/742: “System of Lightweight Materials for Finishing of Buildings with Waste Raw Materials”. Attention was paid to the lightweighting of polymer-modified mortars applicable as adhesives, screeds and repair mortars. In terms of repair mortars, they were ones intended for the sanitation of aerated concrete. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=additives" title="additives">additives</a>, <a href="https://publications.waset.org/abstracts/search?q=light%20aggregates" title=" light aggregates"> light aggregates</a>, <a href="https://publications.waset.org/abstracts/search?q=lightweight%20materials" title=" lightweight materials"> lightweight materials</a>, <a href="https://publications.waset.org/abstracts/search?q=lightweight%20mortars" title=" lightweight mortars"> lightweight mortars</a>, <a href="https://publications.waset.org/abstracts/search?q=polymer-modified%20mortars" title=" polymer-modified mortars"> polymer-modified mortars</a> </p> <a href="https://publications.waset.org/abstracts/18439/lightweight-materials-for-building-finishing" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/18439.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">412</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">6</span> The Use of Secondary Crystallization in Cement-Based Composites</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Nikol%20%C5%BDi%C5%BEkov%C3%A1">Nikol Žižková</a>, <a href="https://publications.waset.org/abstracts/search?q=%C5%A0%C3%A1rka%20Keprdov%C3%A1"> Šárka Keprdová</a>, <a href="https://publications.waset.org/abstracts/search?q=Rostislav%20Drochytka"> Rostislav Drochytka</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The paper focuses on the study of the properties of cement-based composites produced using secondary crystallization (crystalline additive). In this study, cement mortar made with secondary crystallization was exposed to an aggressive environment and the influence of secondary crystallization on the degradation of the cementitious composite was investigated. The results indicate that the crystalline additive contributed to increasing the resistance of the cement-based composite to the attack of the selected environments (sodium sulphate solution and ammonium chloride solution). <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=secondary%20crystallization" title="secondary crystallization">secondary crystallization</a>, <a href="https://publications.waset.org/abstracts/search?q=cement-based%20composites" title=" cement-based composites"> cement-based composites</a>, <a href="https://publications.waset.org/abstracts/search?q=durability" title=" durability"> durability</a>, <a href="https://publications.waset.org/abstracts/search?q=degradation%20of%20the%20cementitious%20composite" title=" degradation of the cementitious composite"> degradation of the cementitious composite</a> </p> <a href="https://publications.waset.org/abstracts/58594/the-use-of-secondary-crystallization-in-cement-based-composites" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/58594.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">399</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">5</span> The Influence of Physical-Mechanical and Thermal Properties of Hemp Filling Materials by the Addition of Energy Byproducts</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Sarka%20Keprdova">Sarka Keprdova</a>, <a href="https://publications.waset.org/abstracts/search?q=Jiri%20Bydzovsky"> Jiri Bydzovsky</a> </p> <p class="card-text"><strong>Abstract:</strong></p> This article describes to what extent the addition of energy by-products into the structures of the technical hemp filling materials influence their properties. The article focuses on the changes in physical-mechanical and thermal technical properties of materials after the addition of ash or FBC ash or slag in the binding component of material. Technical hemp filling materials are made of technical hemp shives bonded by the mixture of cement and dry hydrate lime. They are applicable as fillers of vertical or horizontal structures or roofs. The research used eight types of energy by-products of power or heating plants in the Czech Republic. Secondary energy products were dispensed in three different percentage ratios as a replacement of cement in the binding component. Density, compressive strength and determination of the coefficient of thermal conductivity after 28, 60 and 90 days of curing in a laboratory environment were determined and subsequently evaluated on the specimens produced. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=ash" title="ash">ash</a>, <a href="https://publications.waset.org/abstracts/search?q=binder" title=" binder"> binder</a>, <a href="https://publications.waset.org/abstracts/search?q=cement" title=" cement"> cement</a>, <a href="https://publications.waset.org/abstracts/search?q=energy%20by-product" title=" energy by-product"> energy by-product</a>, <a href="https://publications.waset.org/abstracts/search?q=FBC%20ash%20%28fluidized%20bed%20combustion%20ash%29" title=" FBC ash (fluidized bed combustion ash)"> FBC ash (fluidized bed combustion ash)</a>, <a href="https://publications.waset.org/abstracts/search?q=filling%20materials" title=" filling materials"> filling materials</a>, <a href="https://publications.waset.org/abstracts/search?q=shives" title=" shives"> shives</a>, <a href="https://publications.waset.org/abstracts/search?q=slag" title=" slag"> slag</a>, <a href="https://publications.waset.org/abstracts/search?q=technical%20hemp" title=" technical hemp"> technical hemp</a> </p> <a href="https://publications.waset.org/abstracts/9190/the-influence-of-physical-mechanical-and-thermal-properties-of-hemp-filling-materials-by-the-addition-of-energy-byproducts" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/9190.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">406</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">4</span> Interaction of Histone H1 with Chromatin-associated Protein HMGB1 Studied by Microscale Thermophoresis</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Michal%20%C5%A0tros">Michal Štros</a>, <a href="https://publications.waset.org/abstracts/search?q=Eva%20Polansk%C3%A1"> Eva Polanská</a>, <a href="https://publications.waset.org/abstracts/search?q=%C5%A0%C3%A1rka%20Posp%C3%AD%C5%A1ilov%C3%A1"> Šárka Pospíšilová</a> </p> <p class="card-text"><strong>Abstract:</strong></p> HMGB1 is an architectural protein in chromatin, acting also as a signaling molecule outside the cell. Recent reports from several laboratories provided evidence that a number of both the intracellular and extracellular functions of HMGB1 may depend on redox-sensitive cysteine residues of the protein. MALDI-TOF analysis revealed that mild oxidization of HMGB1 resulted in a conformational change of the protein due to formation of an intramolecular disulphide bond by opposing Cys23 and Cys45 residues. We have demonstrated that redox state of HMGB1 could significantly modulate the ability of the protein to bind and bend DNA. We have also shown that reduced HMGB1 could easily displace histone H1 from DNA, while oxidized HMGB1 had limited capacity for H1 displacement. Using microscale thermophoresis (MST) we have further studied mechanism of HMGB1 interaction with histone H1 in free solution or when histone H1 was bound to DNA. Our MST analysis indicated that reduced HMGB1 exhibited in free solution > 1000 higher affinity of for H1 (KD ~ 4.5 nM) than oxidized HMGB1 (KD <10 M). Finally, we present a novel mechanism for the HMGB1-mediated modulation of histone H1 binding to DNA. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=HMGB1" title="HMGB1">HMGB1</a>, <a href="https://publications.waset.org/abstracts/search?q=histone%20H1" title=" histone H1"> histone H1</a>, <a href="https://publications.waset.org/abstracts/search?q=redox%20state" title=" redox state"> redox state</a>, <a href="https://publications.waset.org/abstracts/search?q=interaction" title=" interaction"> interaction</a>, <a href="https://publications.waset.org/abstracts/search?q=cross-linking" title=" cross-linking"> cross-linking</a>, <a href="https://publications.waset.org/abstracts/search?q=DNA%20bending" title=" DNA bending"> DNA bending</a>, <a href="https://publications.waset.org/abstracts/search?q=DNA%20end-joining" title=" DNA end-joining"> DNA end-joining</a>, <a href="https://publications.waset.org/abstracts/search?q=microscale%20thermophoresis" title=" microscale thermophoresis"> microscale thermophoresis</a> </p> <a href="https://publications.waset.org/abstracts/17609/interaction-of-histone-h1-with-chromatin-associated-protein-hmgb1-studied-by-microscale-thermophoresis" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/17609.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">335</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">3</span> Comparison of Efficient Production of Small Module Gears</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Vaclav%20Musil">Vaclav Musil</a>, <a href="https://publications.waset.org/abstracts/search?q=Robert%20Cep"> Robert Cep</a>, <a href="https://publications.waset.org/abstracts/search?q=Sarka%20Malotova"> Sarka Malotova</a>, <a href="https://publications.waset.org/abstracts/search?q=Jiri%20Hajnys"> Jiri Hajnys</a>, <a href="https://publications.waset.org/abstracts/search?q=Frantisek%20Spalek"> Frantisek Spalek</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The new designs of satellite gears comprising a number of small gears pose high requirements on the precise production of small module gears. The objective of the experimental activity stated in this article was to compare the conventional rolling gear cutting technology with the modern wire electrical discharge machining (WEDM) technology for the production of small module gear m=0.6 mm (thickness of 2.5 mm and material 30CrMoV9). The WEDM technology lies in copying the profile of gearing from the rendered trajectory which is then transferred to the track of a wire electrode. During the experiment, we focused on the comparison of these production methods. Main measured parameters which significantly influence the lifetime and noise was chosen. The first parameter was to compare the precision of gearing profile in respect to the mathematic model. The second monitored parameter was the roughness and surface topology of the gear tooth side. The experiment demonstrated high accuracy of WEDM technology, but a low quality of machined surface. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=precision%20of%20gearing" title="precision of gearing">precision of gearing</a>, <a href="https://publications.waset.org/abstracts/search?q=small%20module%20gears" title=" small module gears"> small module gears</a>, <a href="https://publications.waset.org/abstracts/search?q=surface%20topology" title=" surface topology"> surface topology</a>, <a href="https://publications.waset.org/abstracts/search?q=WEDM%20technology" title=" WEDM technology"> WEDM technology</a> </p> <a href="https://publications.waset.org/abstracts/82952/comparison-of-efficient-production-of-small-module-gears" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/82952.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">233</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">2</span> Impact of Ventilation Systems on Indoor Air Quality in Swedish Primary School Classrooms</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Sarka%20Langer">Sarka Langer</a>, <a href="https://publications.waset.org/abstracts/search?q=Despoina%20Teli"> Despoina Teli</a>, <a href="https://publications.waset.org/abstracts/search?q=Blanka%20Cabovska"> Blanka Cabovska</a>, <a href="https://publications.waset.org/abstracts/search?q=Jan-Olof%20Dalenb%C3%A4ck"> Jan-Olof Dalenbäck</a>, <a href="https://publications.waset.org/abstracts/search?q=Lars%20Ekberg"> Lars Ekberg</a>, <a href="https://publications.waset.org/abstracts/search?q=Gabriel%20Bek%C3%B6"> Gabriel Bekö</a>, <a href="https://publications.waset.org/abstracts/search?q=Pawel%20Wargocki"> Pawel Wargocki</a>, <a href="https://publications.waset.org/abstracts/search?q=Natalia%20Giraldo%20Vasquez"> Natalia Giraldo Vasquez</a> </p> <p class="card-text"><strong>Abstract:</strong></p> The aim of the study was to investigate the impact of various ventilation systems on indoor climate, air pollution, chemistry, and perception. Measurements of thermal environment and indoor air quality were performed in 45 primary school classrooms in Gothenburg, Sweden. The classrooms were grouped into three categories according to their ventilation system: category A) natural or exhaust ventilation or automated window opening; category B) balanced mechanical ventilation systems with constant air volume (CAV); and category C) balanced mechanical ventilation systems with variable air volume (VAV). A questionnaire survey about indoor air quality, perception of temperature, odour, noise and light, and sensation of well-being, alertness focus, etc., was distributed among the 10-12 years old children attending the classrooms. The results (medians) showed statistically significant differences between ventilation category A and categories B and C, but not between categories B and C in air change rates, median concentrations of carbon dioxide, individual volatile organic compounds formaldehyde and isoprene, in-door-to-outdoor ozone ratios and products of ozonolysis of squalene, a constituent of human skin oils, 6-methyl-5-hepten-2-one and decanal. Median ozone concentration, ozone loss -a difference between outdoor and indoor ozone concentrations- were different only between categories A and C. Median concentration of total VOCs and a perception index based on survey responses on perceptions and sensations indoors were not significantly different. In conclusion, ventilation systems have an impact on air change rates, indoor air quality, and chemistry, but the Swedish primary school children’s perception did not differ with the ventilation systems of the classrooms. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=indoor%20air%20pollutants" title="indoor air pollutants">indoor air pollutants</a>, <a href="https://publications.waset.org/abstracts/search?q=indoor%20climate" title=" indoor climate"> indoor climate</a>, <a href="https://publications.waset.org/abstracts/search?q=indoor%20chemistry" title=" indoor chemistry"> indoor chemistry</a>, <a href="https://publications.waset.org/abstracts/search?q=air%20change%20rate" title=" air change rate"> air change rate</a>, <a href="https://publications.waset.org/abstracts/search?q=perception" title=" perception"> perception</a> </p> <a href="https://publications.waset.org/abstracts/177851/impact-of-ventilation-systems-on-indoor-air-quality-in-swedish-primary-school-classrooms" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/177851.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">62</span> </span> </div> </div> <div class="card paper-listing mb-3 mt-3"> <h5 class="card-header" style="font-size:.9rem"><span class="badge badge-info">1</span> Detection, Analysis and Determination of the Origin of Copy Number Variants (CNVs) in Intellectual Disability/Developmental Delay (ID/DD) Patients and Autistic Spectrum Disorders (ASD) Patients by Molecular and Cytogenetic Methods</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Pavlina%20Capkova">Pavlina Capkova</a>, <a href="https://publications.waset.org/abstracts/search?q=Josef%20Srovnal"> Josef Srovnal</a>, <a href="https://publications.waset.org/abstracts/search?q=Vera%20Becvarova"> Vera Becvarova</a>, <a href="https://publications.waset.org/abstracts/search?q=Marie%20Trkova"> Marie Trkova</a>, <a href="https://publications.waset.org/abstracts/search?q=Zuzana%20Capkova"> Zuzana Capkova</a>, <a href="https://publications.waset.org/abstracts/search?q=Andrea%20Stefekova"> Andrea Stefekova</a>, <a href="https://publications.waset.org/abstracts/search?q=Vaclava%20Curtisova"> Vaclava Curtisova</a>, <a href="https://publications.waset.org/abstracts/search?q=Alena%20Santava"> Alena Santava</a>, <a href="https://publications.waset.org/abstracts/search?q=Sarka%20Vejvalkova"> Sarka Vejvalkova</a>, <a href="https://publications.waset.org/abstracts/search?q=Katerina%20Adamova"> Katerina Adamova</a>, <a href="https://publications.waset.org/abstracts/search?q=Radek%20Vodicka"> Radek Vodicka</a> </p> <p class="card-text"><strong>Abstract:</strong></p> ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304. <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=autistic%20spectrum%20disorders" title="autistic spectrum disorders">autistic spectrum disorders</a>, <a href="https://publications.waset.org/abstracts/search?q=copy%20number%20variant" title=" copy number variant"> copy number variant</a>, <a href="https://publications.waset.org/abstracts/search?q=chromosomal%20microarray" title=" chromosomal microarray"> chromosomal microarray</a>, <a href="https://publications.waset.org/abstracts/search?q=intellectual%20disability" title=" intellectual disability"> intellectual disability</a>, <a href="https://publications.waset.org/abstracts/search?q=karyotyping" title=" karyotyping"> karyotyping</a>, <a href="https://publications.waset.org/abstracts/search?q=MLPA" title=" MLPA"> MLPA</a>, <a href="https://publications.waset.org/abstracts/search?q=multiplex%20ligation-dependent%20probe%20amplification" title=" multiplex ligation-dependent probe amplification"> multiplex ligation-dependent probe amplification</a> </p> <a href="https://publications.waset.org/abstracts/56691/detection-analysis-and-determination-of-the-origin-of-copy-number-variants-cnvs-in-intellectual-disabilitydevelopmental-delay-iddd-patients-and-autistic-spectrum-disorders-asd-patients-by-molecular-and-cytogenetic-methods" class="btn btn-primary btn-sm">Procedia</a> <a href="https://publications.waset.org/abstracts/56691.pdf" target="_blank" class="btn btn-primary btn-sm">PDF</a> <span class="bg-info text-light px-1 py-1 float-right rounded"> Downloads <span class="badge badge-light">350</span> </span> </div> </div> </div> </main> <footer> <div id="infolinks" class="pt-3 pb-2"> <div class="container"> <div style="background-color:#f5f5f5;" class="p-3"> <div class="row"> <div class="col-md-2"> <ul 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