Дисертації з теми "Polymorphic control"
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Kaewgun, Sujaree. "Synthesis and polymorphic control for visible light active titania nanoparticles." Connect to this title online, 2009. http://etd.lib.clemson.edu/documents/1252423855/.
Повний текст джерелаTurp, Sarah Ann. "Chemical control of the polymorphic phase boundaries in doped barium titanate." Thesis, University of St Andrews, 2013. http://hdl.handle.net/10023/3817.
Повний текст джерелаMcLure, Craig Anthony. "Duplication and polymorphism with particular reference to regulators of complement activation." University of Western Australia. Centre for Molecular Immunology and Instrumentation, 2005. http://theses.library.uwa.edu.au/adt-WU2005.0103.
Повний текст джерелаAbu, Bakar Mohd R. "Process analytical technology based approaches for the monitoring and control of size and polymorphic form in pharmaceutical crystallisation processes." Thesis, Loughborough University, 2010. https://dspace.lboro.ac.uk/2134/6436.
Повний текст джерелаSimone, Elena. "Application of process analytical technology (PAT) tools for the better understanding and control of the crystallization of polymorphic and impure systems." Thesis, Loughborough University, 2015. https://dspace.lboro.ac.uk/2134/20098.
Повний текст джерелаDonahue, Michael J. "Polymorph characterization and control /." View online ; access limited to URI, 2007. http://0-digitalcommons.uri.edu.helin.uri.edu/dissertations/AAI3276988.
Повний текст джерелаLai, Tsai-Ta Christopher. "Control of polymorphism in continuous crystallization." Thesis, Massachusetts Institute of Technology, 2016. http://hdl.handle.net/1721.1/104203.
Повний текст джерелаCataloged from PDF version of thesis.
Includes bibliographical references.
Continuous manufacturing has gained significant interest in recent years as the ultra-lean mode of pharmaceutical production. Albeit the increasing number of studies on the process dynamics in continuous crystallization, in particular in yield improvement and impurity separation, the research community lacks the systematic understanding of the control of polymorphism in continuous crystallization. Variations in the polymorphism of the active pharmaceutical ingredient can undermine the bioavailability and the downstream processability of the drug substance. Thus, precise control of the drug polymorphism is pivotal for delivering quality drug products to the patients. In this thesis work, we aimed to develop a series of steps forward in understanding the polymorph dynamics in continuous crystallization, notably in mixed-suspension, mixed-product removal (MSMPR) crystallization. We first elucidated the major intrinsic and extrinsic factors which govern the process polymorphism in both monotropic and enantiotropic polymorphic compounds. Using the monotropic L-glutamic acid as the model compound, two temperature regimes each with distinctive kinetic and thermodynamic characteristics were identified. It is found that at high temperatures, the polymorph dynamics is mediated by the relative thermodynamics of the polymorphs. The most stable form is likely to be the dominant form at steady state. On the other hand, at low temperatures, the interplay of the crystal growth and nucleation kinetics is found to play an important role in determining the final polymorphism. Similar results were identified in the enantiotropic p-aminobenzoic acid system where three temperature regimes were identified. The additional regime is located near to the transition temperature where the chemical potential of the two polymorphs are identical. The steady state polymorphism is thereby determined by the kinetic energy barriers for the crystallization of the polymorphs. The study of polymorphism was also conducted in cooling-antisolvent crystallization and the effect of solvent composition on the polymorph dynamics was studied. In addition, the dynamic pathways connecting the startup states to the metastable steady states and the stable steady states were determined. The polymorphic transition between these steady states was observed and analyzed. The fundamental understanding of the kinetic competition and the governing dynamics in polymorphic crystallization forms the backbone for developing the polymorph control strategies in this thesis. Based on the polymorph dynamic studies, we designed MSMPR cascade systems to control the process polymorphism. In addition, systematic procedures are established to facilitate the design and optimization of continuous crystallization with the objectives to control polymorphism, optimize process yield and achieve the target crystal size distribution. The operational window is determined within which these control objectives are achieved. As there are increasing interests in transitioning pharmaceutical manufacturing from batch to continuous processing, the results in this thesis should develop a substantial position in the body of scientific literature.
by Tsai-Ta Christopher Lai.
Ph. D.
Hahn, Patrick Daniel. "Social control of polymorphism in Zootermopsis." Diss., The University of Arizona, 1992. http://hdl.handle.net/10150/185916.
Повний текст джерелаYang, Xiaochuan Ph D. Massachusetts Institute of Technology. "Polymorphism control and the formation of organic molecular nanocrystals." Thesis, Massachusetts Institute of Technology, 2014. http://hdl.handle.net/1721.1/91067.
Повний текст джерелаCataloged from PDF version of thesis.
Includes bibliographical references.
The formation of organic molecular nanocrystals is a topic of great interest in the pharmaceutical industry because of the potential increase in dissolution rate and solubility of organic crystals below 1 ptm and their potential use in drug products. Previous investigators have developed various methods to produce them; however, breakage, high supersaturation and high intensity mixing are often involved in those methods, producing amorphous solids and if crystalline solid is obtained making control of desired polymorphs difficult. The aim of this thesis is to: (1) Evaluate practical methods to produce organic molecular nano-crystals of the desired form; (2) determine the change in crystal solid properties with size; (3) develop a better fundamental understanding of nucleation kinetics during concomitant nucleation of polymorphs. The first approach tried used bi-functional Self-Assembled Monolayers (SAMs) substrates. Using mefenamic acid as the model compound, micro-sized and nano-sized crystals were obtained with controlled polymorphs and narrow size distributions. By tuning experimental conditions and surface chemistry, exclusive production of one polymorph was demonstrated as well. On the 1 ptm gold islands a single crystal was obtained on each of the islands with a crystal size of ~ 300 nm. The second approach is crystallization under nano-sized confinement. Using soft confinement (porous polymer membranes), we reported the use of a novel solution impregnation method to form nanocrystals in polymer matrices with various microstructures to systemically study the role of soft confinement and polymer chemistry on the nucleation process of nano-sized crystals. We obtained 100% crystalline materials of four compounds in all experiments and in most cases nanocrystals were the most stable form. The smallest nanocrystals produced were ~ 100 nm. In the rigid confinement (porous silica particles of ~ 40nm pores), we explored the polymorphic outcome of four different compounds using solid state NMR. We found that three out of the four compounds can crystallize in the pores although one showed two polymorphs concomitantly crystallized the same time and another one produces a mixture of two polymorphs and amorphous states. All these nanocrystals under soft and rigid confinement showed significant enhancement of dissolution profiles. These results help advance the fundamental understanding of nucleation under rigid confinement and may lead to potential applications in developing new formulations in the pharmaceutical industry. The third approach is the use of nano spray drying. We used glycine as the model compound and compare this approach with the first one we developed, and the results suggest that the nanocrystals produced by spraying exhibit wider size distribution and worse surface structures. These defects existing on crystal surface may improve mobility of molecules and cause "crystal-bridging" to form big crystals. To explore the change in crystal solid properties regarding size, we also measured the solubility vs size curves of two polymorphs of glycine. Both polymorphs showed 20%-30% increase of solubility when crystal size goes down to -300 nm. Although the curves did not cross in the range that we measured, the extended trends suggested that p-glycine solubility could be lower than [beta]-glycine when the crystal size is smaller than ~100 nm.
by Xiaochuan Yang.
Ph. D.
Parmar, Manish M. "Polymorph selection with morphology control using solvents and additives." Thesis, Liverpool John Moores University, 2016. http://researchonline.ljmu.ac.uk/4399/.
Повний текст джерелаBriggs, Naomi Elizabeth Barbara. "Polymorph control of pharmaceuticals within a continuous oscillatory baffled crystalliser." Thesis, University of Strathclyde, 2015. http://oleg.lib.strath.ac.uk:80/R/?func=dbin-jump-full&object_id=26054.
Повний текст джерелаJones, Victor Arnold Shivas. "The genetic control of rhizoid development in the liverwort Marchantia polymorpha." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:fd764164-55da-4b71-8397-f5a9e0f6ac4c.
Повний текст джерелаNewby, Adam Franklin. "Liverwort control in container-grown nursery crops." Auburn, Ala., 2006. http://repo.lib.auburn.edu/2006%20Summer/Theses/NEWBY_ADAM_48.pdf.
Повний текст джерелаNavarro, Alexandre Khae Wu. "Cristalização preferencial de polimorfo do ácido Lglutâmico : uma abordagem por controle ótimo." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/266749.
Повний текст джерелаDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Engenharia Química
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Resumo: O controle de distribuições de cristais é de grande importância para a indústria química de alta tecnologia, encontrando especial aplicação na produção de fármacos e alimentos. Nestas indústrias, outra característica é igualmente importante: polimorfismo. Legislações específicas comumente requerem a presença de um determinado tipo de polimorfo. Como o controle para obtenção destas características é de relevância industrial e tipicamente de difícil realização, neste trabalho, foi estudado o controle da cristalização do ácido L-glutâmico por resfriamento visando obter um único polimorfo e maximizar o tamanho dos cristais ao final da batelada. Este tema foi abordado utilizando controle ótimo através de três estratégias diferentes: controle ótimo em malha aberta, controle ótimo em malha aberta com rastreamento de temperatura e concentração e controle ótimo em malha fechada. As otimizações foram realizadas no software Scilab através de um método quasi-newton em esquema sequencial, de forma que os momentos da distribuição de cristais eram simulados e a curva de resfriamento ajustadas com base na simulação. Para lidar com o efeito de dissolução total de um dos polimorfos, característica que não é capturados pelos momentos populacionais, foi utilizado um loop de integração baseado na interpretação física dos valores dos momentos populacionais. Ao final do trabalho, verificou-se que a estratégia de controle ótimo em malha fechada obteve melhores resultados
Abstract: Crystal size distribution control is of great importance to high-end chemical industry, especially in applications to the production of pharmaceuticals and foods. In these industries, another crystal characteristic is equally important: polymorphism. Strict regulations often require that only an specific type of polymorph may be present in a determined product. As controlling these factors is both of industrial relevance and typically difficult, in this work, the control of batch L-glutamic acid crystallization by cooling aiming to obtain one specific polymorph while maximizing crystal size at the end of the operation. This theme was approached by using optimal control and three different strategies: open-loop optimal control, open-loop optimal control with temperature and concentration tracking, and closed-loop optimal control. The optimizations were performed in Scilab through a quasi-newton method in a sequential process so that the moments of the crystal size distribution were simulated and the cooling curves adjusted based on the simulation and the objective. To deal with the total dissolution of one of the polymorphs, a feature not captured by the populational momentts, a special integration loop was used based on the physical interpretation of the moment values. Finalluy, at the end of the study, it was found that the closed-loop optimal control approach provided better results
Mestrado
Sistemas de Processos Quimicos e Informatica
Mestre em Engenharia Química
Freitas, Fabiana Cristina de [UNESP]. "Caracterização e comparação de Cotesia flavipes (Hymenoptera: braconidae) em situação de criação massal utilizando microssatélites e morfologia." Universidade Estadual Paulista (UNESP), 2016. http://hdl.handle.net/11449/138304.
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O parasitoide larval Cotesia flavipes (Cameron) (Hymenoptera: Braconidae) é um importante agente de controle biológico da broca-do-colmo, Diatraea saccharalis (Fabricius) (Lepidoptera: Crambidae), na cultura da cana-de-açúcar. Este parasitoide é criado em biofábricas para liberação no campo; porém indicadores de parasitismo e capacidade de vôo sugerem que este parasitoide não está apresentando os mesmos níveis de controle que foram observados logo após a sua introdução. Insetos criados em laboratórios ou de campo são introduzidos na criação, porém sem estudos básicos ou critério. Insetos de oito biofabricas de 6 estados brasileiros (São Paulo, Minas Gerais, Paraná, Goiás, Maranhão e Alagoas) foram caracterizados e comparados com a utilização de microssatélites. Análise de quatro loci utilizando pelo menos 22 fêmeas de cada localidade foi realizada. A tíbia posterior direita de cada fêmea utilizada na extração de DNA também foi medida. Os resultados mostraram que o tamanho da tíbia dos insetos do Paraná foi significativamente maior do que o das demais regiões e, dessa forma, dando indicação de mais vigorosos. Com a análise molecular verificou-se que os quatro loci foram polimórficos. As frequências alélicas de três loci estavam de acordo com o Equilíbrio de Hardy-Weinberg para todas as populações de todas as regiões. Foi observada a presença de cinco alelos exclusivos em apenas dois loci. Os maiores valores de Ho e He foram encontrados para os indivíduos da biofábrica no estado de São Paulo (Ho= 0,6055 e He=0,4342). A porcentagem de variação entre e dentro das populações foi 24,65% e 75,34%, respectivamente. A estimativa de compartilhamento de genótipos entre os indivíduos de C. flavipes mostrou K = 2 como número de grupos genéticos mais provável que tenha originado a variação atual e alto compartilhamento de genótipos entre eles. Levando em consideração todos os loci analisados, a diferenciação genética foi moderada (Fst = 0,1656; IC=95%). Ainda é proposta uma mistura de materiais biológicos levando em consideração as distâncias genéticas e o grau de estruturação apresentado.
O parasitoide larval Cotesia flavipes (Cameron) (Hymenoptera: Braconidae) é um importante agente de controle biológico da broca-do-colmo, Diatraea saccharalis (Fabricius) (Lepidoptera: Crambidae), na cultura da cana-de-açúcar. Este parasitoide é criado em biofábricas para liberação no campo; porém indicadores de parasitismo e capacidade de vôo sugerem que este parasitoide não está apresentando os mesmos níveis de controle que foram observados logo após a sua introdução. Insetos criados em laboratórios ou de campo são introduzidos na criação, porém sem estudos básicos ou critério. Insetos de oito biofabricas de 6 estados brasileiros (São Paulo, Minas Gerais, Paraná, Goiás, Maranhão e Alagoas) foram caracterizados e comparados com a utilização de microssatélites. Análise de quatro loci utilizando pelo menos 22 fêmeas de cada localidade foi realizada. A tíbia posterior direita de cada fêmea utilizada na extração de DNA também foi medida. Os resultados mostraram que o tamanho da tíbia dos insetos do Paraná foi significativamente maior do que o das demais regiões e, dessa forma, dando indicação de mais vigorosos. Com a análise molecular verificou-se que os quatro loci foram polimórficos. As frequências alélicas de três loci estavam de acordo com o Equilíbrio de Hardy-Weinberg para todas as populações de todas as regiões. Foi observada a presença de cinco alelos exclusivos em apenas dois loci. Os maiores valores de Ho e He foram encontrados para os indivíduos da biofábrica no estado de São Paulo (Ho= 0,6055 e He=0,4342). A porcentagem de variação entre e dentro das populações foi 24,65% e 75,34%, respectivamente. A estimativa de compartilhamento de genótipos entre os indivíduos de C. flavipes mostrou K = 2 como número de grupos genéticos mais provável que tenha originado a variação atual e alto compartilhamento de genótipos entre eles. Levando em consideração todos os loci analisados, a diferenciação genética foi moderada (Fst = 0,1656; IC=95%). Ainda é proposta uma mistura de materiais biológicos levando em consideração as distâncias genéticas e o grau de estruturação apresentado.
Salman, Esin Bayraktar Oğuz. "Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in Turkish alcohololic people and control group/." [s.l.]: [s.n.], 2007. http://library.iyte.edu.tr/tezlerengelli/master/biyoteknoloji/T000650.pdf.
Повний текст джерелаChampion, Clement Henry Martin. "The genetic control of microtubule-mediated tip-growth stability in the liverwort Marchantia polymorpha." Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:c693ef49-3733-4577-bf6a-86429248467b.
Повний текст джерелаZhao, Xiaoyan. "Genetic and immunological control of human myasthenia gravis /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-494-5/.
Повний текст джерелаLobo, Daniela Sabbatini da Silva. "Características de personalidade de jogo patológico: análise comparativa de jogadores patológicos e seus irmãos." Universidade de São Paulo, 2005. http://www.teses.usp.br/teses/disponiveis/5/5142/tde-02092005-150159/.
Повний текст джерелаPathological Gambling is a psychiatric disorder in which personality characteristics and genetic factors significantly account for its development. This study compared clinical and personality features, and genes involved in dopaminergic transmission in discordant sib-pairs for the diagnosis of Pathological Gambling. Discriminant analysis revealed that the personality dimensions of extravagance, persistence, second nature, attachment and the total score on the Barrat Impulsiveness Scale were able to correctly classify 90,7% of the subjects, suggesting that this model could be useful in identifying vulnerable subjects in families with prior history of Pathological Gambling. The DRD1 gene polymorphism -800 T/C was associated to the diagnosis of Pathological Gambling
Bidwell, Joseph R. "Control strategies for the zebra mussel, Dreissena polymorpha, and the Asian clam, Corbicula fluminea comparative stress responses and nontarget impact /." Diss., Connect to this title online, 1993. http://scholar.lib.vt.edu/theses/available/etd-10212005-122959/.
Повний текст джерелаПриступа, Людмила Никодимівна, Людмила Никодимовна Приступа, Liudmyla Nykodymivna Prystupa, Анна Миколаївна Бондаркова, Анна Николаевна Бондаркова та Anna Mykolaivna Bondarkova. "Level of bronchial asthma control with regard to GLN27GLU polymorphism in the β2-adrenergic receptor gene". Thesis, Sumy State University, 2017. http://essuir.sumdu.edu.ua/handle/123456789/64795.
Повний текст джерелаTso, Ko-Chiang Tim. "Insulin-dependent diabetes mellitus and atherosclerosis : the effects of apolipoprotein e polymorphism, lipoprotein (A) polymorphism, and glycemic control on atherogenic factors in children with insulin-dependent diabetes mellitus /." The Ohio State University, 1997. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487948807587274.
Повний текст джерелаMazal, Ctibor. "LabVIEW instrument control toolbox." Master's thesis, Vysoké učení technické v Brně. Fakulta elektrotechniky a komunikačních technologií, 2015. http://www.nusl.cz/ntk/nusl-221273.
Повний текст джерелаSilva, Ana Paula Cappra. "Controle de qualidade e avaliação das propriedades tecnológicas das formas polimórficas de talidomida." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2011. http://hdl.handle.net/10183/60980.
Повний текст джерелаThalidomide was widely prescribed between 1950 and 1960, in nearly 50 countries, as sedative and antiemetic for morning sickness during pregnancy. After the occurrence of serious problems of teratogenicity it was heavily controlled. Growing interest has been observed in recent years to identify and elucidate the anti-inflammatory, immunomodulatory and anti-angiogenic properties of thalidomide. In the same direction, clinical investigations have been conducted in patients with various diseases such as myeloma, renal carcinoma, and prostate cancer, among others. Thalidomide possesses a chiral center and two amide rings in its structure and is synthesized as racemate, consisting of two active enantiomers: (+)-(R)- and (+)-(S)-thalidomide. It is known that the racemic thalidomide has two polymorphic forms, alpha ( ) and beta ( ). Thus, the observed variability in relation to the polymorphism represents a critical point considering the potential of changes in biopharmaceutical properties due to the predominance of one of them. In Brazil thalidomide tablets are manufactured exclusively by FUNED – Fundação Ezequiel Dias, the public laboratory of the State of Minas Gerais, which integrates the Country's Official System of drug production. In this context, the objectives of this work are the assessment of physical characteristics, physicalchemical and technological properties of polymorphic forms of thalidomide, with emphasis on crystallization, dissolution, degradation and compression. The results of this work contributed to a better understanding of the relationship between characteristic crystallographic properties and pharmaceutical properties, aggregating a scientific basis to assess the differences of these polymorphs and ensure the appropriate quality control of the final product produced in an official laboratory. These studies contributed to compliance with regulatory requirements.
Faria, Victor Genu. "Estudo do circuito regulatorio que controla a expressão do gene MOX (metanol oxidase) na levedura Hansenula Polymorpha." [s.n.], 2002. http://repositorio.unicamp.br/jspui/handle/REPOSIP/314285.
Повний текст джерелаDissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia
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Resumo: A expressão de genes da classe II (codificadores de proteínas) em organismos eucariotos é regulada de uma maneira altamente complexa, de modo a assegurar que genes específicos sejam adequadamente "ligados" ou "desligados" em resposta a estímulos ambientais (por exemplo, disponibilidade de nutrientes ou temperatura) ou a estágios do desenvolvimento do organismo (por exemplo, diferenciação em metazoários). De maneira geral, apenas os genes cujos produtos são requeridos em uma determinada condição são expressos, permanecendo aqueles "supérfluos" silenciados. Essa é uma forma comum de economia de energia, pois evita o dispêndio com a transcrição de genes que não são necessários de imediato. Um modelo interessante de estudos sobre regulação gênica em eucariotos é derivado do metabolismo de metanol (metabolismo C1) de leveduras metilotróficas, como Hansenula polymorpha (sinônimo: Pichia angusta). A utilização de metanol como fonte única de carbono e energia depende basicamente dos produtos de quatro genes (MOX, CAT, DAS, FMD) , que são fortemente reprimidos na presença de glicose e intensamente ativados quando as células entram em contato com metanol. Nesse trabalho, foram estudados diferentes aspectos da regulação do metabolismo C1, em especial, da expressão do gene MOX, codificador da primeira enzima dessa via metabólica, Metanol Oxidase (MOXp). Será descrita a existência de dois Pontos de Iniciação da Transcrição alternativos controlando a expressão do gene MOX em diferentes condições metabólicas, e também a dependência da atividade mitocondrial para a ativação gênica. Possíveis relações evolutivas desse processo com o metabolismo C1 serão apontadas. A dinâmica de posicionamento de nucleossomos em situações de repressão e indução também foi estudada e importantes implicações para a regulação gênica foram detectadas. Em uma busca por fatores adicionais que controlam a expressão de MOX, foram clonados fragmentos de genes homólogos a SW/2/SNF2 e SW/3, que codificam subunidades do complexo remodelador de cromatina SWI/SNF, envolvido com a ativação de uma série de genes regulados por glicose em Saccharomyces cerevisiae. Em H. polymorpha, mutações swi2 e swi3 levaram a deficiências na utilização de metanol (e de outras fontes de carbono) e também a uma redução drástica do nível de expressão normal de MOX. Finalmente, foi detectada a restauração da habilidade de células de H.polymorpha crescerem em galactose, como decorrência das mutações swi2 e swi3 introduzidas
Abstract: The expression of protein-coding genes in eukaryotic organisms is regulated in a highly orchestrated and elaborated fashion to ensure that specific genes are turned on and off in response to different environmental stimuli (e.g. food availability or temperature) or to temporal and developmental requirements (e.g. differentiation in metazoans). Generally, only the genes whose products are required under a certain circumstance are expressed, while those "unneeded" are kept silent. This is an ordinary way of saving energy, since it avoids useless wasting with the expression of genes unessential in a given metabolic situation. An interesting model for studies on eukaryotic gene regulation is derived from the methanol metabolism (C1 metabolism) of methylotrophic yeasts, as Hansenula polymorpha (synonym: Pichia angusta). The utilization of methanol as a sole carbon and energy source depends mainly of the products of four genes (MOX, CA T, DAS, FMD), which are strongly repressed by glucose and fully activated when the cells are grown in methanol. In this work, different issues on the regulation of C1 metabolism in H. polymorpha were studied, specially on the transcriptional regulation of the MOX gene encoding the first enzyme of this particular metabolic pathway, Methanol Oxidase (MOXp). It will be described the existence of two alternative Transcription Starting Points controlling MOX expression under different physiological conditions and also the dependence on mitochondrial activity for gene activation. Possible evolutionary implications of this process with C1 metabolism will be considered. The dynamics of nucleosome positioning on the MOX promoter under repressing and derepressíng conditions was also studied and important implications on gene regulation were detected. In a search for additional factors controlling the MOX gene expression in H. polymorpha, gene fragments homologous to the Saccharomyces cerevisiae SW/2ISNF2 and SW/3 genes encoding subunits of the SWI/SNF chromatin-remodeling complex were cloned. In H. po/ymorpha,swi2 and swi3 mutations led to a deficiency on the utilization of methanol (as of other carbon sources) and also to a drastic reduction of the normal levels of MOX expression on cells growing on methanol. At last, the restoration of the ability of H. po/ymorpha cells to grow on galactose was detected, as a consequence of the swi2 and swi3 mutations introduced. Possible evolutionary considerations and also the repressive role played by the SWI/SNF complex on the galactose utilization pathway in normal cells will be discussed.
Mestrado
Bioquimica
Mestre em Biologia Funcional e Molecular
Catarino, Bruno. "Evolution of bHLH transcription factors that control epidermal cell development in plants." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:88f764a3-dfe9-432f-a33a-3db3981c21d9.
Повний текст джерелаVenancio, Bárbara Rocha [UNESP]. "Chain of custody control of ipe timber (Handroanthus sp.) from the Amazon rainforest, using DNA fingerprinting." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/150808.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
A presente dissertação de mestrado é composta por uma seção introdutória, seguida de uma revisão da literatura a qual antecede os três capítulos subsequentes. O primeiro capítulo aborda um conjunto de revisões de conhecimentos científicos contemporâneos sobre os efeitos da exploração madeireira em florestas tropicais e as práticas madeireiras utilizadas no Brasil, quais têm se demonstrado insuficientes para garantir a sustentabilidade tanto na produção genética quanto na produção madeireira. O segundo capítulo é um “primer note” descrevendo a identificação de 402 loci putativos (polimorfismos de nucleotídeo único – SNPs, inserções / deleções - INDELs) para Ipe (Handroanthus sp.), destinado à estudos de genética de populações, filogeografia e DNA fingerprinting. O último capítulo discute a viabilidade de DNA fingerprinting para espécies do gênero Handroanthus. Esse traz a análise da diversidade genética, diferenciação genética de populações de Handroanthus sp., bem como entre os países de origem das amostras, análises de auto atribuição de genótipos e testes de atribuição de madeira ao local de origem.
The present master dissertation is composed by an introductory section, followed by a review of literature, which prefaces the three subsequent chapters. The first chapter of this dissertation is a review assembly contemporary scientific knowledge about the effects of the forest logging in tropical rainforests and the actual logging practices used in Brazil, which seems insufficient to ensure sustainability in both genetic and timber production aspects. The second chapter is a primer note describing the identification of 402 putative loci (single nucleotide polymorphisms –SNPs; and insertion/deletions- INDELs) for Ipe (Handroanthus sp.), intended to help population genetics, phylogeography and DNA fingerprinting studies. The last chapter discuss the feasibility of DNA fingerprinting for Handroanthus species. It brings genetic diversity analysis, genetic differentiation of Handroanthus sp. sample-populations, as well as among countries, self-assignment and timber assignment tests analysis.
Гарбузова, Вікторія Юріївна, Виктория Юрьевна Гарбузова, Viktoriia Yuriivna Harbuzova, Inna Oleksandrivna Rozumenko, I. A. Forkert, Інна Олександрівна Розуменко, and Инна Александровна Розуменко. "The distribution of genotypes for the À69314G polymorphism TNAP gene in the control group and in patients with acute coronary syndrome." Thesis, Sumy State University, 2015. http://essuir.sumdu.edu.ua/handle/123456789/41294.
Повний текст джерелаSantos, Larissa Ferreira dos. "Controle neurovascular do fluxo sanguíneo muscular e da atividade nervosa simpática durante o exercício em pacientes após síndrome isquêmica miocárdica instável com polimorfismos do receptor \'beta\'2-adrenérgico Gln27Glu." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/39/39132/tde-07042015-144133/.
Повний текст джерелаAcute coronary syndrome (ACS) leads to important neurovascular abnormalities such as sympathetic hyperactivity and decreased forearm blood flow (FBF) at rest and during physiological maneuvers as exercise. The presence of some polymorphisms in human genetics, as the β2-adrenoceptor Gln27Glu, presents a significant association with cardiovascular functionality in healthy subjects. However, it is not known whether in patients with ACS, the presence of polymorphisms of the β2-adrenoceptor leads to distinct neurovascular responses during exercise, and if the exercise training can modify this response. OBJECTIVES: To study the influence of Gln27Glu \'beta\'2-adrenoceptor polymorphisms on neurovascular control of muscle sympathetic nerve activity (MSNA) and FBF at rest and during handgrip exercise, in patients with ACS; and to evaluate the effect of exercise training on neurovascular responses during exercise in these patients. METHODS: Initially, were selected 78 patients with ACS with ejection fraction >= 45% at the time of hospitalization. One month after the ischemic event, 61 patients returned for the initial assessments. Patients were genotyped and then divided into two groups according to the Gln27Glu \'beta\'2-adrenoceptor polymorphisms: 1-Gln27Gln (CC, n=35) and 2-Gln27Glu + Glu27Glu (CG +GG, n=26). Of these, 29 patients agreed to participate in an exercise training protocol for a period of 8 weeks, but only 25 patients completed the protocol (CC, n=17; CG+GG, n=8). The evaluation of neurovascular control was performed at rest and during a handgrip exercise at 30% of the maximum voluntary contraction. We evaluated the MSNA, by the direct technique of microneurography, the FBF, by venous occlusion plethysmography technique, blood pressure (BP), by indirect oscillometric device and heart rate, by electrocardiogram. All evaluations were performed one month after the ischemic event and, for those patients subjected to the exercise training protocol the same evaluations were repeated after 8 weeks of intervention. RESULTS: One month after the ischemic event, the MSNA (P=0.26) and mean arterial pressure (MAP, P=0.14) at rest were similar between groups with genotype CC and CG+GG. However, during exercise, the response of MSNA was higher in the CC group compared with the CG+GG group (\'delta\'=11±2 vs. 4±2 bursts/100HB, P=0.02). In addition, BP response during exercise was higher in the CC group compared to the CG + GG group (\'delta\' =24 ±2 vs. 18±2 mmHg, P=0.04). The forearm vascular conductance (FVC) response during exercise was similar in both groups. After exercise training, baseline MSNA decreased in the group with CC genotype (63± 3vs. 48±5 bursts/100HB, P <0.001) but not in the group with CG+GG genotypes (70±4 vs. 55±5 bursts/100HB, P =0.06). Similarly, exercise training decreases the level (P= 0.007) and the response of MSNA (\'delta\'= 12±2 vs. 5±2 bursts/100HB, P= 0.02) during exercise in the group with CC genotype but not in the CG+GG group (P= 0.10) and (\'delta\'=7±3 vs 7±3 bursts/100HB, P= 0.96), respectively. Exercise training did not change the levels of MAP and FVC, during exercise in both groups. However, in the post exercise training period, the CG+GG group had lower MAP response (P =0.01) and higher FVC (P =0.03) during exercise compared to the CC group. CONCLUSION: Patients with ACS, carrying the CC genotype of the \'beta\'2-adrenoceptor have increased MSNA response during physiological maneuver as exercise when compared with patients carrying the CG+GG genotype. Exercise training reverses this exacerbated response of MSNA in patients with CC genotype. These results suggest an increased cardiovascular risk in patients with ACS with CC genotype of the \'beta\'2-adrenoceptor. Furthermore, exercise training should be strongly recommended for patients with ACS, especially for those with the CC genotype
Miguita, Karen. "Estudo de associação de genes candidatos no transtorno obsessivo-compulsivo: investigação dos loci SLC6A4, HTR1B, HTR2A, SLC6A3, COMT e SLC6A2." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5142/tde-23102007-110042/.
Повний текст джерелаObsessive-compulsive disorder (OCD) is a common and heterogeneous psychiatric disorder characterized by obsessions (intrusive and recurrent thoughts, images or impulses) and compulsions (repetitive behaviors or mental acts performed to relive obsessions). OCD prevalence range from 2 to 3% in general population and has approximately equal sex distributions, however men tend to have an earlier age at onset of obsessive-compulsive symptoms comparing to women. Epidemiologic studies have demonstrated that genetic factor is an important component in the etiology of OCD. The aim of this study was to investigate participation of some candidate genes in the susceptibility to OCD and also their effects on clomipramine treatment. We performed a candidate gene study in a total of 215 OCD patients and 865 controls. The loci investigated were: SLC6A4, HTR1B, HTR2A, SLC6A3, COMT and SLC6A2. The same polymorphisms were investigated in a sub-sample of 41 patients treated with clomipramine, and analyzed according to therapeutic response. There were considered good responders to the drug those patients who presented a reduction of 40% or more in Y-BOCS scale. According to this, 27 patients were good responders and 14 poor responders. Genotypic and allelic differences were observed in some results for patients and controls. However, no association was observed in the analyses for clomipramine response. Our results suggest that some polymorphisms investigated may be related to the increase of risk to develop OCD, but they are not associated to therapeutic response to clomipramine.
Bahia, Valéria Santoro. ""Polimorfismos da região promotora e codificadora do gene APOE e do gene LRP na doença de Alzheimer em indivíduos brasileiros"." Universidade de São Paulo, 2003. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-18042006-143140/.
Повний текст джерелаOBJETIVE: To investigate the role of polymorphisms APOE,-491 and -219 and LRP patients with Alzheimer's disease (AD) and controls in Brazilian individuals.METHODS: One hundred twenty patients and 120 controls were selected for the assessment. RESULTS: The frequency of the e4 allele was 0.31 in patients and 0.10 in controls. The presence of allele e2 was protective factor. No significant difference emerged for the polymorphisms of the localization -219 and -491 of APOE and of the LRP gene. CONCLUSION: These results confirm the relevance of the e4 allele like genetic risk factor and the protective role of the e2 allele in AD. We did not notice any difference in patients and controls for polymorphisms of the LRP and APOE promoter region polymorphism in this study
Torkko, Kathleen Carroll. "Vitamin D receptor gene polymorphisms and prostate cancer /." Connect to full text via ProQuest. IP filtered, 2005.
Знайти повний текст джерелаTypescript. Includes bibliographical references (leaves 95-118). Free to UCDHSC affiliates. Online version available via ProQuest Digital Dissertations;
Felipe, Aledson Vitor [UNIFESP]. "O polimorfismo –251 A/T na região promotora do gene da interleucina 8 e o risco de câncer gástrico: estudo caso-controle." Universidade Federal de São Paulo (UNIFESP), 2010. http://repositorio.unifesp.br/handle/11600/9863.
Повний текст джерелаFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Introdução: A infecção por Helicobacter pylori está associada ao câncer gástrico (CG) não localizado na região da cárdia, no entanto, apenas uma pequena proporção das pessoas infectadas desenvolvem esta neoplasia. Estudos sobre cepas específicas dessa bactéria demonstram que os fatores genéticos e ambientais estão associados a esta carcinogênese. A Interleucina-8 (IL-8) desempenha um papel importante na inflamação da mucosa do estômago após a infecção por H. pylori. Estudos têm demonstrado que o polimorfismo da IL-8 pode aumentar o risco de CG. Objetivo: Investigar a associação entre o polimorfismo da IL-8, infecção por H. pylori, hábitos de vida e risco de CG. Casuística e métodos: Estudo caso-controle feito em pacientes com CG não-cárdia em comparação com indivíduos saudáveis na proporção de 1:2, respectivamente. O DNA foi extraído de leucócitos, purificado e a análise do polimorfismo foi feita pela técnica de PCR-RFLP e visualizado por eletroforese em gel de agarose a 5%. Infecção por H. pylori foi investigada pelos níveis séricos de anticorpos anti-H.pylori. Aspectos ambientais como tabagismo, etilismo e dieta foram investigados por questionário. Resultados: Um total de 312 indivíduos foi estudado, sendo 208 controles e 104 pacientes com câncer. Não houve diferença significante entre sexo ou idade, entre o grupo controle e os pacientes com CG. A proporção de pacientes infectados pelo H. pylori foi semelhante (p=0,15) entre os grupos controle (53,8%) e caso (45,2%). Menor frequência do genótipo AA foi encontrada no grupo com câncer (p = 0,01), sem diferença entre os alelos A e T. O tabagismo (p=0,001), acentuada ingestão de gordura (p=0,003) e baixa ingestão de legumes (p=0,02), foram mais frequentes no grupo caso. A análise de regressão logística multivariada demonstrou maior risco de CG em indivíduos com o genótipo heterozigoto AT (OR: 2,28 95%IC 1,16-4,49; p=0,02) e consumo excessivo de gordura (OR: 1,77 95%IC 1,12-2,92; p=0,03). Fumantes e ex-fumantes também demonstraram maior risco de CG quando comparados ao grupo controle (OR: 1,89 95%IC 1,41-3,11; p=0,01). Conclusões: A presença do genótipo AT está associada à elevação do risco de CG em aproximadamente duas vezes. O percentual de pacientes com CG infectados pelo H. pylori, diagnosticado pelos níveis de anticorpos séricos, não foi diferente do grupo controle na população estudada. Não observamos correlação entre a frequência alélica e o risco de CG. Indivíduos que consomem gorduras em excesso, ex-fumantes e fumantes têm maior risco de CG.
Background: Helicobacter pylori infection is associated with gastric cancer (GC) non-cardia, however, only a small proportion of infected people develop this cancer. Studies on specific strains of bacteria showed that the genetic and environmental factors are associated with this carcinogenesis. Interleukin-8 (IL-8) plays an important role in inflammation of the stomach mucosa after infection with H. pylori. Studies have shown that the polymorphism of IL-8 may increase the risk of GC. Objective: To investigate the association between polymorphism of IL-8, infection with H. pylori, lifestyle and risk of GC. Patients and methods: Case-control study done in patients with non-cardia GC compared with healthy subjects in the ratio 1:2, respectively. DNA was extracted from white blood cells, purified and polymorphism analysis was performed by PCR-RFLP and visualized by agarose gel electrophoresis to 5%. Infection with H. pylori was investigated by serum antibodies to H. pylori. Environmental issues such as smoking, alcohol consumption and diet were investigated by questionnaire. Results: A total of 312 individuals was studied, and 208 controls and 104 cancer patients. No significant differences between sex or age between the control group and patients with CG. The proportion of patients infected by H. pylori was similar (p=0.15) between the control group (53.8%) and case (45.2%). Lower frequency of AA genotype was found in the cancer group (p=0.01), however, no difference between alleles A and T. Cigarette smoking (p=0.001), sharp intake of fat (p=0.003) and low intake of vegetables (p=0.02) were more frequent in case group. A multivariate logistic regression analysis demonstrated a higher risk of GC in subjects with the heterozygous genotype AT (OR: 2.28 95% IC 1,16-4,49, p=0.02) and excessive consumption of fat (OR: 1 77 95% CI 1,12-2,92, p = 0.03). Smokers and former smokers also showed increased risk of GC compared to the control group (OR: 1.89 95% CI 1,41-3,11, p=0.01). Conclusions: The presence of the AT genotype is associated with increased risk of GC in about two times. The percentage of patients with GC infected with H. pylori, diagnosed by serum antibody levels was not different from the control group in the population. No correlations between allele frequency and risk of GC. Individuals who consume too much fat, ex-smokers and smokers have a higher risk of GC.
FAPESP: 08/05763
TEDE
BV UNIFESP: Teses e dissertações
Bunt, Thomas Michael. "Reproductive Isolation and Genetic Divergence in a Young "Species Flock" of Pupfishes (Cyprinodon sp.) from San Salvador Island, Bahamas." Thesis, Virginia Tech, 2001. http://hdl.handle.net/10919/31212.
Повний текст джерелаMaster of Science
Bourgeault, Adeline. "Bioaccumulation par Dreissena polymorpha: quel reflet de la contamination chimique du milieu ? : Expérimentation – Observation – Modélisation." Phd thesis, Université Pierre et Marie Curie - Paris VI, 2010. http://tel.archives-ouvertes.fr/tel-00546985.
Повний текст джерелаOliveira, Rafael Nepomuceno. "Investigação de polimorfismos genéticos e metabolismo lipídico com doença periodontal crônica : metanálise e estudo caso-controle /." Araraquara, 2018. http://hdl.handle.net/11449/153851.
Повний текст джерелаResumo: Diversos fatores relacionados ao hospedeiro, como fatores ambientais (tabagismo), doenças sistêmicas (diabetes e dislipidemia) e herança genética vêm sendo estudados quanto à influência no início e progressão da doença periodontal. Embora muitos estudos tenham investigado a relação entre dislipidemia e periodontite crônica (PC), examinando os níveis séricos de lipídeos, os resultados ainda são contraditórios, indicando a demanda da realização de uma metanálise. Alguns Genome-Wide Association Studies (GWAS), estudos de bioinformática e diversos estudos caso-controle evidenciaram variantes genéticas associadas à suscetibilidade à periodontite, mas os resultados para alguns desses polimorfismos são escassos ou contraditórios entre as diferentes populações. Assim, nota-se a importância de realizar metanálises e estudos caso-controle para buscar validar ou identificar a associação de polimorfismos com a PC na população brasileira. O objetivo deste estudo foi dividido em 3 capítulos: (1) investigar se os pacientes com PC apresentam diferentes níveis séricos de parâmetros lipídicos (HDL, LDL, colesterol total e triglicérides) em comparação com indivíduos saudáveis; (2) avaliar se polimorfismos de base única (SNPs, single nucleotide polymorphisms) nos genes LDLR (rs5925 e rs688) e APOB (rs676210 e rs693) contribuem para a suscetibilidade à PC, uma vez que PC está associada a níveis plasmáticos de LDL mais elevados, e os polimorfismos nestes genes podem aumentar as concentrações plasm... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Several factors related to the host, such as environmental factors (smoking), systemic diseases (diabetes and dyslipidemia) and genetic inheritance have been studied regarding the influence on the onset and progression of periodontal disease. Although several studies have investigated the relationship between dyslipidemia and chronic periodontitis (CP), focusing on serum lipid levels, the results are still contradictory, indicating the necessity of a meta-analysis. Some genome-wide association studies (GWAS), bioinformatics studies and several case-control studies have shown genetic variants associated with susceptibility to CP, but the results of some of these polymorphisms are sparse and contradictory among different populations. Thus, it is important to conduct meta-analysis and case-control studies in order to validate or identify an association of polymorphisms with CP in a Brazilian population. The objective of this study was divided into three chapters: (1) to investigate whether patients with CP present different serum levels of lipid parameters (HDL, LDL, total cholesterol and triglycerides) compared to healthy individuals; (2) to assess whether single nucleotide polymorphisms (SNPs) in the LDLR (rs5925 and rs688) and APOB (rs676210 and rs693) genes contribute to CP susceptibility, since CP is associated with higher plasma LDL levels and the polymorphisms of these genes may increase plasma LDL concentration; (3) to validate, in the Brazilian population, the associati... (Complete abstract click electronic access below)
Doutor
Barbosa, Keila Cardoso. "Estudo de polimorfismos dos genes EGF e EGFR em astrocitomas difusamente infiltrativos." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-24062008-150231/.
Повний текст джерелаINTRODUCTION: Diffusely infiltrative astrocytomas are the most frequent tumors of the Central Nervous System (CNS) with a rate of 5-7 new cases in 100,000 individuals per year. They are highly invasive, and they are associated to alterations in some genes as EGF (epidermal growth factor) and EGFR (epidermal growth factor receptor), which may increase mitogenic activity, leading to increase of proliferation, cellular maturation, apoptosis, angiogenesis, and metastasis. Genetic alterations, as presence of polymorphisms of single nucleotide change (SNP) could influence their expression level, and thus could be associated to increased risk in developing astrocytomas. In the present study, two SNP of non-coding region (c.-191C>A and c.-216G>T) and one SNP in exon 16 (c.2073A>T) of EGFR, and another SNP of non-coding region of EGF (c.61A>G) were analyzed. The SNPs were associated to EGFR expression level and to survival time. METHOD: a case-control study of 193 of diffusely infiltrative astrocytomas and 200 controls was carried out, with PCR amplification and enzymatic digestion, which products were analyzed in agarose gel or polyacrylamide gel electrophoresis stained by ethidium bromide. EGFR expression level was studied by real time PCR after RNA extraction followed by reverse transcription of tumor tissues compared to epileptic non-neoplastic brain tissues. Stastistical analysis were performed by chi-square, odds ratio (OR), 95% confidence interval (95% CI), Student-t test and Kaplan Meier. RESULTS: The polymorphic genotype frequency was different between case and controls for the polymorphism c.2073A>T. Patients with TT genotype presented lower risk to develop astrocytoma when compared to genotype AA (OR=0.51, CI95%=0.29- 0.99). No other correlation was observed for the remaining studied polymorphisms. There was neither correlation between the polymorphic genotypes and the EGFR expression levels nor with survival time. CONCLUSION: The present study showed a possible protection factor in developing astrocytomas for the patients harboring the genotype TT of c.2073A>T polymorphism of EFGR, thus the patients presenting TT genotype have lower risk to develop diffusely infiltrative astrocytoma than patients presenting the genotype AA.
Guirado, Marluci Monteiro [UNESP]. "Padrões de esterases em populações resistentes e suscetíveis de Aedes aegypti (Diptera, Culicidae)." Universidade Estadual Paulista (UNESP), 2008. http://hdl.handle.net/11449/102721.
Повний текст джерелаCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Hoje se sabe que as enzimas esterásicas estão relacionadas com o desenvolvimento de resistência a inseticidas, em muitos organismos. Em Aedes aegypti, a dedução desse envolvimento tem resultado mais de testes que permitem a avaliação da atividade das esterases no extrato total dos mosquitos (mostrando valores maiores nas populações resistentes) do que de estudos mais profundos de padrões e bandas individualizadas e sua relação com a resistência. Com o objetivo básico de contribuir para o conhecimento desse aspecto, no presente trabalho 11 populações geográficas daquele vetor, sendo seis classificadas como resistentes, três como suscetíveis e duas como tendo suscetibilidade diminuída, foram analisadas quanto ao polimorfismo de esterases, por eletroforese em géis de poliacrilamida. O resultado do estudo de cerca de 30 amostras de larvas e adultos de cada população mostrou 24 bandas que foram tentativamente associadas com oito loci genéticos. Considerando também os dados de Lima-Catelani et al. (2004) e de Sousa-Polezzi & Bicudo (2005), temos o total de 25 bandas esterásicas, incluídas em 12 supostos loci, em 15 populações daquele vetor, até a presente data. A população de São José do Rio Preto, analisada em intervalos de cinco anos entre aqueles dois estudos, e sete anos entre Sousa-Polezzi & Bicudo (2005) e o presente trabalho, mostrou modificações no padrão de esterases, que ocorreram ao longo do tempo paralelamente ao surgimento e aumento da resistência aos inseticidas utilizados no controle, nessa população. Essas modificações abrangeram, basicamente, aumento ou diminuição da freqüência de algumas bandas e ausência de bandas previamente detectadas. De modo geral, a busca por padrões esterásicos específicos, relacionados ao desenvolvimento da resistência, indicou algumas bandas ou combinações de bandas para um estudo mais aprofundado. Essas bandas são: EST-1, sozinha, devido à sua alta freqüência em cinco das seis populações classificadas como resistentes, a combinação de EST-1 com EST-4, ambas ocorrendo simultaneamente, de forma predominante nas populações resistentes, e as colinesterases , detectadas nas 11 populações, mas apresentando freqüências mais altas em quatro das seis populações consideradas resistentes. Diante do conhecimento atual sobre as esterases e sua relação com a resistência a inseticidas, em A. aegypti, no presente trabalho é discutida a possibilidade de que a quantidade total de esterases (principalmente das carboxilesterases) produzidas por um grupo de genes possa ser mais importante em gerar resistência do que o grau de expressão de genes individuais que codificam para bandas específicas. Contudo, entendemos que as bandas destacadas neste trabalho devem ser alvo de um estudo mais detalhado, antes que essa hipótese ganhe maior força.
It is presently known that the esterases are involved in the process of resistance to insecticides, in several organisms. In Aedes aegypti, the conclusion about such involvement resulted rather from tests in which the total amount of esterases is computed in extracts of the mosquitoes (showing greater quantities in the resistant ones) than from deeper studies of esterase patterns or particular esterase bands and their relationship with resistance. With the basic aim to contribute to the knowledge of this relationship, in the present study the esterase polymorphism of 11 geographic populations of that vector, being six classified as resistant, three as susceptible and two as presenting decreased susceptibility, was studied by electrophoresis in polyacrylamide gels. The results of the analysis of about 30 individual samples of larvae and adults of each population showed 24 esterase bands which were tentatively associated to eight loci. Considering also the data from Lima-Catelani et al. (2004) and Sousa-Polezzi & Bicudo (2005), a total of 25 bands and 12 loci, in 15 populations, was obtained. The population from São José do Rio Preto, analyzed at intervals of five years between those two studies and seven years between Sousa-Polezzi & Bicudo (2005) and the present study, showed changes in the esterase pattern, which occurred along time concomitant to the increase of insecticide resistance in that population, including frequency increase or decrease of some bands and absence of bands previously detected. The search for specific esterase patterns related to the resistance development indicated some bands and combinations of bands as deserving a deeper study. They are EST-1 alone, due to high frequency in five of the six resistant populations, or the combination of EST-1 with EST-4, both occurring simultaneously, with high frequency, mainly in the resistant populations, and the cholinesterases, which although present in the 11 populations, showed higher frequencies in four of the six resistant ones. In front of the present knowledge on esterases related with resistance, in A. aegypti, we discuss the possibility that the total amount of esterases (mainly carboxilesterases) produced by a group of genes might be more important in the generation of resistance than the degree of expression of genes codifying particular bands. However, we understand that the bands stood out in the present study must be the target of a more detailed analysis, before this hypothesis gains a greater consideration.
FAPESP: 05/59219-5
Markkanen, P. (Piia). "Human δ opioid receptor:the effect of Phe27Cys polymorphism, N-linked glycosylation and SERCA2b interaction on receptor processing and trafficking". Doctoral thesis, Oulun yliopisto, 2012. http://urn.fi/urn:isbn:9789514298219.
Повний текст джерелаTiivistelmä δ-opioidireseptori kuuluu G-proteiinikytkentäisiin reseptoreihin, ja sillä on tärkeä rooli kivun säätelyssä. Ihmisen δ-opioidireseptoria koodaavassa OPRD1 geenissä on havaittu ainakin 11 yhden nukleotidin polymorfiaa. Vain yksi tunnetuista polymorfioista aiheuttaa muutoksen proteiinin aminohapposekvenssiin. Se sijaitsee reseptorin aminoterminaalisessa osassa ja se muuttaa fenyylialaniinin (Phe) kohdassa 27 kysteiiniksi (Cys), joka on pariton. Cys27-variantin yleisyys eurooppalaisessa väestössä on noin 10 %. Polymorfisen kohdan molemmilla puolilla on N-glykosylaatiokohdat asparagiineissa Asn18 ja Asn33. Tämän työn tavoitteena oli tutkia δ-opioidireseptorin laskostumista, maturaatiota ja kuljetusta heterologisessa solumallissa käyttämällä Phe27- ja Cys27-variantteja sekä Cys27-variantin N-glykosyloimatonta mutanttia. Cys27-polymorfian ja N-glykosylaation vaikutuksia tutkittiin useilla biokemiallisilla, farmakologisilla sekä solubiologisilla menetelmillä. Lisäksi työssä tutkittiin solunsisäisen δ-opioidireseptorin esiasteen vuorovaikutusta muiden proteiinien kanssa. Phe27- ja Cys27-varianttien sijainti solun sisällä ja maturaatiotehokkuus eroavat toisistaan merkittävästi. Vastasyntetisoitu Cys27-variantti kerääntyy endoplasmakalvostoon, josta se ohjautuu proteasomihajoitukseen. Molemmat variantit kulkeutuvat solun pintaan hitaasti. Cys27-variantin prosessointi on huomattavasti tehottomampaa ja sen määrää solun pinnalla vähentää myös lisääntynyt ohjaaminen solunsisäiseen lysosomihajotukseen. N-glykosylaatiolla ei havaittu olevan vaikutusta reseptorin toimintaan tai ligandin sitomiseen, mutta sillä on tärkeä merkitys oikein laskostuneiden reseptorien kuljetukselle solun pinnalle, koska osa pintaan päässeistä N-glykosyloimattomista reseptoreista on muodossa, johon reseptorispesifinen ligandi ei sitoudu. Vaikka mutanttireseptori kulkeutuukin solun pintaan nopeammin, sen määrä solun pinnalla on alhaisempi, koska mutanttireseptori ohjataan huomattavan nopeasti solun pinnalta lysosomihajotukseen. Phe27- ja Cys27-varianttien havaittiin olevan myös vuorovaikutuksessa eräiden endosomaalisen kalvoston proteiinien kanssa, kuten kalneksiinin, proteiinidisulfidi-isomeraasin ja ERp72-proteiinin. Kumpikin reseptori havaittiin yhteisessä rakenteessa sarko(endo)plasmakalvoston kalsium-ATPaasi 2b -pumpun (SERCA2b) kanssa N-glykosylaatiosta riippumattomalla tavalla. Nämä proteiiniryhmät muodostuvat, kun reseptori liitetään synteesin aikana endoplasmakalvostoon tai heti sen jälkeen. Vuorovaikutus toiminnallisen SERCA2b:n kanssa havaittiin tärkeäksi toimintakykyisen δ-opioidireseptorin esiintymiselle solun pinnassa
Franz, Juliana Pires Marafon. "Estudo de polimorfismos dos genes CXCR2 e IL-8 em pacientes com câncer de próstata e grupo controle." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2015. http://hdl.handle.net/10183/139982.
Повний текст джерелаInterleukin-8 (IL-8) is an angiogenic CXC chemokine that plays an important role in both the development and progression of several human malignancies including prostate cancer (PC). A single nucleotide polymorphism (SNP) at -251 upstream of the transcriptional start site of the IL-8 gene has been shown to influence its production. The effects of IL-8 are mediated by two highly related chemokine receptors, CXCR1 and CXCR2. The present study investigated the influence of the IL-8 and CXCR2 gene variation on susceptibility and clinicopathological characteristics of PC in a group of Brazilian subjects. Two hundred and one patients and 185 healthy controls were enrolled in a case-control study. Blood was collected for DNA extraction; typing of IL-8 -251 T/A and CXCR2 +1208 C/T genes was performed by polymerase chain reaction with sequence-specific primers (PCR-SSP), followed by agarose gel electrophoresis. Risk association between the genotypes, PC susceptibility and tumor characteristics was estimated by odds ratio (OR) and 95% confidence intervals (95% CI) using logistic regression analysis, after adjusting for age at diagnosis. A significant association was found between the heterozygous CXCR2 +1208 CT genotype and PC. The CXCR2 +1208 CT genotype was significantly less frequent in patients with clinical stage T3-T4 compared to T1-T2 (56.7 versus 80.5%). Our findings suggest that carriers of the CXCR2 +1208 CT genotype had a protective effect for advanced PC (CT versus CC: adjusted OR = 0.25; P = 0.02). No association was observed between the SNP for IL-8 -251 T/A and clinicopathological parameters of PC. These results indicated that the CXCR2 +1208 CT genotype is less frequent in advanced stages of PC, suggesting that this chemokine receptor plays a role in the pathogenesis of this disease.
Gelmetti, Adriana Peixoto. "Polimorfismo do receptor IgG FcyRIIa em pacientes com nefrite lúpica e glomerulopatias." Universidade de São Paulo, 2004. http://www.teses.usp.br/teses/disponiveis/5/5148/tde-19032007-085120/.
Повний текст джерелаSystemic lupus erythematosus (SLE) is an autoimmune disease characterized by tissue deposition of immune complexes. Immune complex clearance is impaired in SLE, contributing to the pathogenesis of lupus nephritis. Fcg receptors (FcgR) participate in the clearance of the immune complexes containing immunoglobulin G, because they bind the Fc domain of this molecule. The FcgRIIa receptor has two co dominant alleles, R131 and H131. They differ in their efficiency to bind IgG subclasses. Cells expressing the homozygote FcgRIIa-H/H131 are the only ones, which bind efficiently immune complexes containing IgG2, whereas those expressing FcgRIIa-R/R131 do not. This polymorphism has been described as a risk factor for lupus nephritis. However, reports are still controversial. This study aims to establish the role of FcgRIIa polymorphism in the severity and prognosis of lupus nephritis compared to primary glomerulopathies, and whether it is related to histological findings or not. In 76 patients with lupus nephritis and 63 patients with primary glomerulopathies, genotyping of the FcgRIIa receptor was performed with standard PCR, followed by nested PCR using specific primers. The same patients were assessed according to clinical and laboratory patterns. Seventy-one patients with lupus nephritis underwent biopsy, while five did not since they were already under dialysis. Patients diagnosed as membranoproliferative glomerulonephritis, IgA glomerulonephritis and mesangial proliferative glomerulonephritis were grouped as proliferative glomerulopathies, while those with focal segmental glomerulosclerosis, membranous glomerulonephritis and minimal change disease were grouped as nonproliferative glomerulopathies. The homozygous FcgRIIa-R/R131 was more prevalent in lupus nephritis (42,1% being R/R131 and 14,5% H/H131) than in glomerulopathies (23,8% being R/R131 and 23,8% H/H131). These data were statistically significant (p<0.05). A segregation of the FcgRIIa-R/R131 genotype was found in patients with lupus nephritis compared to nonproliferative glomerulopathies, but not when compared to proliferative glomerulopathies (p<0.05). No relation was found between genotype distribution and histological class or renal insufficiency (end-study serum creatinine = 1.4 mg/dl). The genotype R/R131 was more prevalent in lupus nephritis patients presenting complement 3 (C3) consumption and higher antinuclear factor (ANF) titers, but not in those with antidouble- stranded DNA or antiphospholipid antibodies (p>0.05). We concluded that a skewed distribution of the FcgRIIa genotypes with R/R131 predominance may contribute to the development of lupus nephritis and proliferative glomerulopathy. In Brazilian patients, this polymorphism is also related to more intense lupus activity (ANF > 1/100 and C3 consumption).
Carmine, Andrea. "On Parkinson's disease and schizophrenia : case control studies, cellular localization and modelling of candidate genes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-671-5.
Повний текст джерелаMuñoz, Camarillo Gloria. "La colonización del mejillón cebra, Drcissena polymorpha (Bivalvia: Dreisscnidae) en el tramo final del río Ebro: factores que controlan su distribución y abundancia." Doctoral thesis, Universitat de Barcelona, 2013. http://hdl.handle.net/10803/111332.
Повний текст джерелаThe zebra mussel, Dreissena polymorpha (Pallas, 1771), is known to be one of the worst freshwater invasive species worldwide. This successful invasive bivalve is native to the Ponto-Caspian region and has been introduced throughout Europe and North America. It was first discovered in the Iberian Peninsula in the lower Ebro River in 2001. Since its invasion the zebra mussel has spread throughout most of the Ebro river basin and other catchments of the Iberian Peninsula. The high ecological and economical impacts caused by the zebra mussel have promoted the study of this specie. In the case of the Ebro river basin studies are still scarce. The present PhD thesis focuses on the study of zebra mussel populations established in the lower Ebro River, between the Mequinenza reservoir (Zaragoza) and the beginning of the estuarine area (Tarragona). Throughout the present study information on the structure, distribution patterns and population dynamics of the zebra mussel present in the Mequinenza, Ribarroja and Flix reservoirs, was obtained for a full year. Planktonic and sessile larval stages were studied, and their relationship with reservoirs’ environmental variables were analyzed. Most studies on the zebra mussel are focused on lentic systems, such as reservoirs or lakes, where populations reach higher densities. However, the habitat preferences of this species in lotic systems are poorly known. Therefore, in this PhD thesis the relationship between environmental and water physicochemical parameters and the abundance and distribution of the zebra mussel in the lower Ebro River, from the Flix reservoir to the limit of the salt wedge was assessed. Moreover, the filtration rate of the zebra mussel inhabiting this river stretch was calculated. This parameter was determined because of its importance in both the zebra mussel populations’ auto regulation and the potential effects on colonized water bodies. Finally, a population dynamics model to simulate the zebra mussel abundance over time was developed. The construction of this model was performed with both bibliographic information and own data generated in the present PhD thesis.
Reis, Samara Marques dos. "Correlação estatística entre os dados de freqüências genéticas e dados de prevalência de doença podem complementar os estudos de caso-controle para identificar loci susceptibilidade em estudos de associação genética." Universidade Federal do Pampa, 2015. http://dspace.unipampa.edu.br:8080/xmlui/handle/riu/280.
Повний текст джерелаMade available in DSpace on 2016-04-04T15:05:19Z (GMT). No. of bitstreams: 1 SAMARA MARQUES DOS REIS .pdf: 1152921 bytes, checksum: 30f5b5e9c3afbab29666da7f6e7c9033 (MD5) Previous issue date: 2015-03-04
Estudos de associação gene-doença mostraram uma relação entre TPH2 e a depressão em diferentes populações, estudos, no entanto, têm sido produzidos resultados contraditórios, sendo a Triptofano hidroxilase-2 (TPH2) uma enzima limitante da taxa na via sintética para a serotonina do cérebro, vários estudos relatam os polimorfismos da enzima TPH2. Dois grandes projetos, o HapMap e o 1000 genomas, organizaram a maioria dos polimorfismos a partir do estudo de várias populações disponibilizando estes dados. Este trabalho tem como objetivo desenvolver um método de estudo para obtenção de possíveis marcadores de predisposição a doença a partir da correlação entre os dados epidemiológicos e frequências populacionais de polimorfismos, baseado na hipótese de que se numa população existe maior frequência de uma determinada patologia determinada geneticamente, então as variantes envolvidas deveriam estar em maior frequência e vice-versa. O modelo usado foi o envolvimento de variantes do gene TPH2 na predisposição à depressão. Os dados obtidos com correlação positiva em um dos genótipos homozigotos e também no alelo deste homozigoto sugeriram a presença de 10 polimorfismos (14,49% do total) possivelmente envolvidos no desenvolvimento do processo depressivo. Estes dados foram comparados com dados da literatura envolvendo estudos do tipo caso controle. Nestes trabalhos foram estudados 20 dos 69 polimorfismos descritos para o gene TPH2. Com exceção de um único polimorfismo, todos os dados obtidos com a nossa estratégia apresentaram-se iguais aos dados da literatura, inclusive quanto ao alelo que determinaria predisposição à depressão quando demonstrada associação. Portanto, propomos esta estratégia como uma forma alternativa de se realizar estudos do tipo Genome-Wide Association sem a necessidade de estudos caso-controle, apenas usando dados epidemiológicos da doença, diminuindo o tempo e custo destes estudos.
Disease-gene association studies reported a relation between the TPH2 and depression in different populations, however some studies have produced contradictory results, being the tryptophan hydroxylase-2 (TPH2) a limiting enzyme in the rate of synthetic route of serotonin in the brain, many studies reported the polymorphisms of the TPH2 enzyme. Two big projects, HapMap and 1000 genomes, organized the major part of these polymorphisms from the study of several populations becoming these data available. This work is aimed to develop a system to obtain possible predisposition markers of a disease from the correlation between epidemiological data and population frequencies of polymorphism, based in the hypothesis that if in a population there is more frequency of a certain kind of pathology genetically determined, the variables involved should be more frequent and vice-versa. The model used was the involvement of variables of the TPH2 gene in the predisposition of depression. The data obtained with positive correlation in one of homozygous genotypes and in the allele of this homozygous suggested the presence of 10 polymorphisms (total 14,49%) possibly related to the development of depression. These data were compared to literature data involving case control studies. In these work were studied 20 from 69 polymorphisms described to the TPH2 gene. With the exception of only one polymorphism, all the data obtained through the strategy proposed in this work have been equals to the literature data, including the allele that is determinant to the predisposition of depression when it is demonstrated the association. Therefore, it is proposed this strategy as an alternative to realize this kind of Genome-Wide Association studies without the necessity of a case control study, only using the epidemiological data from the disease, decreasing the time and the cost of this study.
Rodrigues, Danitsa Marcos. "Efeito do polimorfismo A3669G do gene do receptor de glicocorticoide sobre o controle metabólico, comportamento alimentar e neuroimagem funcional em uma amostra de adolescentes." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2015. http://hdl.handle.net/10183/139572.
Повний текст джерелаIntroduction: Glucocorticoids are involved in regulation and adaptation of the stress response, exerting effects through its receptors. Variations on the glucocorticoid receptors genes have been characterized functionally. The A3669G polymorphism of the glucocorticoid receptor gene is related to a change in the tissue sensitivity to glucocorticoids and altered metabolic profile. Physiological concentrations of glucocorticoids stimulate food intake and in the presence of insulin affect food preferences. The G variant of the A3669G polymorphism appears to lead to a lower risk for diabetes, in patients with Cushing's syndrome, and smoking, when associated with a polymorphism of the mineralocorticoid receptor gene, suggesting a modulation in reward pathways. The objective of this study is to evaluate the association of A3669G polymorphism variants with feeding behavior and metabolic parameters in a sample of students correlating with functional neuroimaging data. Methods: The sample includes students of 6 schools in Porto Alegre, evaluated at two occasions 2008 and in 2013. In 2008, 131 individuals had complete protocol assessment and, from these, 74 returned in for re- evaluation in 2013. The evaluation included genotyping, anthropometry, laboratory tests, feeding behavior and a functional MRI paradigm to verify brain activation in response to the visualization of palatable, non- palatable foods and neutral items. The association with phenotypes was performed using Student's t test and Chi-square; longitudinal study data were evaluated using Generalized Estimating Equations. Results: The variant of the A3669G polymorphism was found in 17.6% of the students in 2008 and 14.9% of the sample in 2013. There was no difference between groups in the sample composition; the comparison between groups of the mean caloric intake originating from proteins, carbohydrates and fats in 2008 revealed no significant differences; at this time, analysis showed lower consumption of sugars and total calories in the G carrier group. In 2013, these individuals showed a reduction in insulin level and resistance, with no differences in food intake. The fMRI data indicated that viewing a food palatable image by the wild-type allele carrier group activated a region involved in visual processing (middle occipital gyrus) and deactivated an area related to motor planning and sensitivity to taste (pre central gyrus). Conclusion: The results showed that G carriers of the A3669G polymorphism of glucocorticoid receptor gene had lower insulin resistance levels, preceded by modulation of their food preference. The findings in functional neuroimaging showed increased incentive salience on viewing palatable food images and a predisposition for impulsivity in noncarriers. Data suggest that reduction in glucocorticoids sensitivity at a cellular level affects food intake, by reducing consumption of palatable foods, possibly decreasing the risk for metabolic diseases.
Couldrick, Jonathan Stuart Aerospace Civil & Mechanical Engineering Australian Defence Force Academy UNSW. "A study of swept and unswept normal shock wave/turbulent boundary layer interaction and control by piezoelectric flap actuation." Awarded by:University of New South Wales - Australian Defence Force Academy. School of Aerospace, Civil and Mechanical Engineering, 2006. http://handle.unsw.edu.au/1959.4/38672.
Повний текст джерелаClarimón, Echavarria Jordi. "Factors genètics de risc en la malaltia d'Alzheimer." Doctoral thesis, Universitat Pompeu Fabra, 2003. http://hdl.handle.net/10803/7068.
Повний текст джерелаEs va trobar una associació estadísticament significativa entre l'al·lel e4 del gen APOE i la MA (OR ajustada per sexe i edat de 7.8), així com una altre associació positiva entre el polimofisme *159C/T del gen Neprilysin i la MA (OR del subgrup menor de 75 anys i homozigots CC = 2.87). Finalment, es va trobar una sobre representació significativa del genotip GG, situat en l'exó 5 del gen BACE1, en els pacients d'Alzheimer (OR = 2.14 ). També es va obtenir una associació significativa entre el polimorfisme analitzat en el gen HSP70-2 i la presència de simptomatologia no cognitiva en els pacients que havien estat avaluats amb test neuropsiquiàtric (NPI).
Tots aquests estudis confirmen la base genètica de la forma tardana de la MA i demostren la importància de l'epidemiologia genètica i dels estudis de tipus cas-control en aquelles malalties complexes com la MA.
En la presente tesis doctoral se establecieron y calcularon los factores genéticos de riesgo para la forma tardía de la enfermedad de Alzheimer (EA). Para ello se analizaron un total de 15 variantes génicas (polimorfismos) que se encuentran en algunos de los genes candidatos que codifican proteínas involucradas en la fisiopatología de la EA. Las frecuencias génicas y genotípicas de todos los polimorfismos, así como las frecuencias haplotípicas de aquellos polimorfismos que se encontraron en desequilibrio de ligamiento, fueron comparadas entre una población de 136 individuos con diagnóstico clínico de EA y una población de 91 individuos sin deterioro cognitivo (todos con edades superiores a los 65 años y sin relación de parentesco).
Se halló una asociación estadísticamente significativa entre el alelo e4 del gen APOE y la EA (OR ajustada por sexo y edad de 7.8), así como otra asociación positiva entre el polimofismo *159C/T del gen Neprilysin y la EA (OR del subgrupo menor de 75 años y homocigotos CC = 2.87). Finalmente, se encontró una sobre representación significativa del genotipo GG, situado en el exón 5 del gen BACE1, en los pacientes de Alzheimer (OR = 2.14 ). También se obtuvo una asociación significativa entre el polimorfismo analizado en el gen HSP70-2 y la presencia de sintomatología no cognitiva en los pacientes que habían sido evaluados con test neuropsiquiátrico (NPI).
Todos estos estudios confirman la base genética de la forma tardía de la EA y demuestran la importancia de la epidemiología genética y de los estudios de tipo caso-control en aquellas enfermedades complejas como la EA.
In the present thesis, genetic risk factors for late onset Alzheimer's disease (AD) have been evaluated. A total of 15 polymorphisms located in several candidate genes involved in AD pathophysiology were analysed in a sample set comprising 136 AD patients and 91 non-demented elderly control individuals. A statistically significant association was found between the e4 allele of the APOE gene and AD (age- and sex-adjusted OR = 7.8). An association was also found between the *159C/T polymorphism located at the Nerprilysin gene (the OR for those individuals younger than 75 years old and homozygous for the C allele was 2.87). Finally, an over representation of the GG genotype of the BACE1 exon 5 was found in AD patients compared to controls (OR = 2.14). An elevated propensity to develop non-cognitive alterations in AD patients was found to be associated with the A2 allele of the HSP70-2 gene.
All of these results confirm the genetic susceptibility to AD and clearly demonstrate the usefulness of genetic epidemiology tools as well as the case-control approaches in identifying genes related to complex disorders such as AD.
Aguiar, Pamella Kelly Farias de. "Análise da influência do polimorfismo rs1801133 (677c>t) no gene mthfr em fissuras labiais com ou sem fissura palatina não sindrômicas: estudo de base familiar e populacional pareado por ancestralidade no Brasil." Universidade Federal da Paraíba, 2014. http://tede.biblioteca.ufpb.br:8080/handle/tede/3658.
Повний текст джерелаCoordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES
The MTHFR 677C>T variant (rs1801133) has been analysed as a putative genetic risk factor for oral clefts within various populations worldwide. To test the role of the MTHFR 677C>T variant in nonsyndromic cleft lip with or without cleft palate (NSCL/P) predisposition in the Brazilian population, we conducted a study combining a family-based association test (transmission disequilibrium test-TDT) and a structured association analysis (case-control study) based on the individual ancestry proportions. The rs1801133 polimorphism was genotyped in 197 trios with NSCL/P, 318 isolated samples of NSCL/P and 598 healthy controls using the TaqMan 5′- exonuclease allelic discrimination assay. Genomic ancestry was characterized by a set of 40 biallelic short insertion/deletion markers. TDT revealed a strong association of rs1801133 polymorphism with case-parent trios of NSCL/P (p=0.002) and non-syndromic cleft lip and palate (NSCLP, p=0.001), but not with non-syndromic cleft lip (NSCL). Analyses of parent-oforigin effects demonstrated modest excess transmission of the risk allele from mothers of NSCLP (OR: 1.47, 95% CI: 1.10-2.14, p=0.04). The structured case-control analysis supported these findings, revealing that the risk T allele was significantly more frequent in NSCL/P group (OR: 1.37, 95% CI: 1.12-1.69, p=0.002) and NSCLP (OR: 1.41, 95% CI: 1.12-1.79, p=0.01) than the control group. Our findings provide evidence for the involvement of rs1801133 in the development of NSCL/P in the Brazilian population, and reinforce the importance of genetic screening in populations at risk in order to optimize the implementation of preventive strategies.
Entre os prováveis fatores de risco genético para as fissuras orais, está o polimorfismo rs1801133 do gene MTHFR (677C>T). O papel desse polimorfismo com relação à predisposição para fissuras não-sindrômicas do lábio com ou sem o envolvimento do palato (FL/P) foi analisado na população Brasileira. Utilizou-se duas abordagens, um teste de associação de base familiar (teste de desequilíbrio de transmissão TDT) e um estudo casocontrole baseado nas proporções individuais de ancestralidade. Na análise TDT o polimorfismo rs1801133 foi genotipado em 197 trios (o afetado e seus respectivos pais). No estudo casocontrole foram incluídos 318 indivíduos fissurados e 598 controles não portadores de fissuras ou qualquer outra anomalia. Realizou-se ensaio de discriminação alélica TaqMan 5′- exonuclease. A ancestralidade genômica foi caracterizada por um conjunto de 40 marcadores bialélicos de curta inserção / deleção. O TDT revelou uma forte associação entre o polimorfismo rs1801133 nos trios de portadores de FL/P (p=0,002) como também nos trios de fissuras labiopalatinas (FLP, p=0,001), mas não apresentou associação com fissuras labiais isoladas (FL). A análise da origem parental do alelo T mostrou excesso de transmissão, por parte das mães, nos trios de portadores de FLP (OR: 1.47, 95%CI: 1.10-2.14, p=0,04). O estudo caso-controle corroborou com os resultados obtidos no TDT, demonstrando que o alelo polimórfico 677T foi significantemente mais frequente no grupo de portadores de FL/P (OR: 1.37, 95% CI: 1.12-1.69, p=0,002) e de FLP (OR: 1.41, 95% CI 1.12-1.79, p=0,01) quando comparada ao grupo controle. Em conclusão, o presente estudo sugere correlação entre o polimorfismo rs1801133 e o desenvolvimento de FL/P na população brasileira, e reforça a importância da triagem genética nas famílias dos afetados para otimizar a aplicação de medidas preventivas.
Khuseyinova, Natalie. "Association between plasma levels of the soluble CD14 receptor of lipopolysaccharide and the C(-260)T polymorphism in the promoter of the CD14 gene and coronary artery disease: investigations in a large case-control study." Ulm : Universität Ulm, Medizinische Fakultät, 2002. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB9967025.
Повний текст джерелаHalilovic, Amina. "SÄKERSTÄLLNING AV SÄLLSYNTA DNA-KONTROLLER MED HELGENOMAMPLIFIERING I KLINISKT SYFTE." Thesis, Malmö högskola, Fakulteten för hälsa och samhälle (HS), 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-24387.
Повний текст джерелаClinical single nucleotide polymorphisms (SNP) analysis includes DNA controls with known genotypes in each run to ensure the accuracy of the analysis results. DNA controls have a central role for the credibility of the results in the genotyping process. Some of the used control samples are rare and can be very difficult to obtain. This work was carried out to investigate whether it is possible to obtain DNA from samples with a rare genotype using whole genome amplification and as a result ensure access to these samples. In this work the whole genome amplification method was tested by two different kits. The quantity and quality of the whole genome amplification products were analyzed and compared with the original DNA, with the intention to describe the most advantageous kit for clinical SNP analysis. Both tested kits demonstrated a good ability to amplify genomic DNA with high quality. Whole genome amplified DNA from the best kit was sequenced and the difference between the original DNA and whole genome amplified DNA was negligible. Sequence analysis of 464 base pairs of the factor II gene and 585 base pairs of the ApoE gene in five whole genome amplified DNA samples indicated only one possible discrepancy.