896 resultados para Growth disorders -- Genetic aspects
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In industrial polymer and synthetic rubber production facilities, workers are exposed to 1,3-butadiene. This compound is converted in vivo to 1,2,3,4-diepoxybutane (DEB) and has been linked to increased incidences of cancer in these individuals. Carcinogenesis has been attributed to formation of DEB induced DNA interstrand cross-links. Previous studies have demonstrated that DEB cross-links deoxyguanosine residues within 5'-GNC sequences in synthetic DNA, in restriction fragments, and in defined sequence nucleosomes. The current study utilized the polymerase chain reaction (PCR) to examine DEB damage frequencies within nuclear genes, found within "open" regions of chromatin, as compared to regions of unexpressed sequence that reside in tightly packed, "closed" chromatin, to more closely model DEB reactivity in vivo. These initial studies have been performed in chicken liver homogenates. Preliminarily, we have found a dose-dependent DEB lesion-forming response within "open" chromatin. DEB appears to have little-to-no effect upon regions of "closed" chromatin.
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Perciformes are dominant in the marine environment, characterized as the largest and most diverse fish group. Some families, as Gerreidae, popularly known as silver jennies, carapebas, or mojarras have a high economic potential to marine fish farming, natural explotation and game fishing. Genetic information of these species are of fundamental importance for their management and production. Despite exist over 13,000 marine fish species described, only 2% were cytogenetically analyzed and less than 1% have some reproductive characteristics known. Induced breeding, cytogenetic characterization and cryopreservation of gametes, represent important areas in applied fish studies. In this project cytogenetic analyzes were performed to acess genetic aspects of Gerreidae species, distributed in coastal and estuarine regions of Northeast Brazil. Different methods for identifying chromosomal regions were employed using conventional techniques (Ag-NORs, C-banding), staining with base-specific fluorochromes (DAPI-CMA3), and physical mapping of ribosomal genes 18S and 5S rDNA, through hybridization in situ with fluorescent probes (FISH). The six species analyzed showed remarkable chromosome conservatism. The 18S and 5S ribosomal genes when analyzed in phylogenetic perspective demonstrate varied evolutionary dynamics, suggesting ocurrence of stasis process in some groups and greater dynamism in others. Double FISH with 18S and 5S probes showed both how efficient cytotaxonomic markers in the homogeneous karyotypes of this group of species. The karyotypic pattern identified in addition to the evolutionary aspects of karyotype, are suggestive of existence of low potential of post-zygotic barrier, prompting further research to prospect for artificial interspecific hybridization of these species of commercial importance
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The obtainment of transgenic edible plants carrying recombinant antigens is a desired issue in search for economic alternatives viewing vaccine production. Here we report a strategy for genetic transformation of lettuce plants (Lactuca sativa L.) using the surface antigen HBsAg of hepatitis B virus. Transgenic lettuce seedlings were obtained through the application of a regulated balance of plant growth regulators. Genetic transformation process was acquired by cocultivation of cotyledons with Agrobacterium tumefaciens harboring the recombinant plasmid. It is the first description of a lettuce Brazilian variety Vitória de Verão genetically modified.
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In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.
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Cytogenetic studies have been revealing a great diversity not detected, until then, in several families of fishes. Many of these groups, especially those that exhibit great diversity, like Perciformes and Siluriformes, possess species with difficult morphologic characterization, called cryptic species, commonly detected through karyotypic analyses, which reveals outstanding interespecific variations with relationship to the number and its chromosomal structures. Thus, the present work intends to contribute for the cytogenetic knowledge of marine and brackish fish species, because they peculiar life habits and by lack of cytogenetic data of your genetic aspects. Therefore, cytogenetic studies were developed in a species of Apogonidae (Perciformes), two species of sea catfishes of the family Ariidae (Siluriformes) and brackish fish Paurachenipterus galeatus (Siluriformes, Auchenipteridae), through C banding, Ag-NOR, use of base-specific flourochromes (DAPI and CMA3), as well as FISH (Fluorescent in situ hybridization) using ribosomal DNA probes 5S and 18S. The present results contribute to a better understanding of the processes of differentiation patterns and chromosome evolution in these groups. The use of other approaches (the morphology and molecular tools) will allow a larger understanding of the genetic and biological diversity of the Brazilian ichthyofauna.
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O objetivo deste trabalho foi verificar a incidência de ascite em avós, matrizes e frangos de corte, de uma mesma linhagem comercial, alimentados com ração de alto nível energético, de um dia a 39 dias de idade. Todas as aves foram criadas como frangos de corte, recebendo ração ad libitum com 3.050 kcal/EM; foram utilizadas aves da linha fêmea e linha macho e frangos de corte. Um total de 2.700 aves foram usadas, alojadas ao acaso em um galpão experimental de 8x76 m, utilizando-se 27 boxes de 3x3,5 m, com 100 aves por divisão, sendo três repetições por tratamento, em esquema fatorial. A incidência de ascite não dependeu da categoria genética das aves.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Informações de genealogia e produção, cedidas pela Associação Brasileira de Criadores da Raça Simental (ABCRS), relativas aos pesos desde o nascimento até um ano de idade, foram utilizadas para estimar, sob modelos alternativos, os componentes de variância e os parâmetros genéticos em animais da raça Simental no Brasil. A matriz de parentesco incluiu 25.812 animais dos quais 7587 com dados de produção. O modelo 1 contém, além do erro, o efeito genético direto. Os modelos seguintes contêm os componentes do modelo 1, mais o efeito permanente de ambiente materno (modelo 2), ou o componente genético materno (modelo 3), ambos os componentes (modelo 5), os componentes do modelo 3 mais a covariância entre os efeitos genéticos direto e materno (modelo 4) e todos os componentes citados (modelo 6). Os modelos foram comparados pelo teste de razão de verossimilhança pelo chi² (P<0,01). Os componentes de variância e os valores de herdabilidades, estimados para os efeitos direto e materno, foram decrescentes, desde o modelo 1 até o modelo 6, na razão direta em que o modelo incorpora mais efeitos aleatórios. Para a fase de aleitamento foi encontrada variância genética nula, entretanto, alto valor para a variância de ambiente permanente. Os efeitos maternos, genético e de ambiente permanente são importantes para a raça Simental no Brasil e devem ser considerados em programas de seleção. Entretanto, os valores mais elevados de herdabilidade materna, encontrados com modelos sem efeito de ambiente permanente, sugerem que o método utilizado não discrimina apropriadamente esses efeitos, oriundos de mesma fonte de variação.
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The objective of this study was to estimate the relative effects of genetic and phenotypic factors on the efficacy and efficiency of superovulation for Holstein-Friesian cows reared in Brazil. A database, established by the Associacao Brasileira de Criadores de Bovinos da Raca Holandesa, consisting of a total of 5387 superovulations of 2941 cows distributed over 473 herds and sired by 690 bulls was used for the analysis. The records were analyzed by MTDFREML (Multiple Trait Derivative-Free Restricted Maximum Likelihood), using a repeatability animal model. The fixed effects included in the model were contemporaneous group (veterinarian, herd, year and season of the superovulation); number of semen doses; cow age; and superovulation order. The estimated repeatability of the number of the transferable embryos was low (0.13), and the estimated heritability was 0.03. These results indicate that environmental factors play a critical role in the response of a cow to a superovulation treatment. There is little evidence that future responses to superovulation by individual females can be predicted by previous treatment(s) or that superovulation response is an heritable trait.
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This paper aims to present the results of systematic survey on clastic dykes in the Corumbataí Formation (Permian), in the northeast region of the State of São Paulo. Besides this, the paper analyses genetic aspects of those features as well as their stratigraphic and sedimentologic implications in terms of geologic evolution of the northeastern Paraná Sedimentary Basin during Permian times. The field works had been developed in 3 main Corumbataí Formation outcrops (2 road cuts and a quarry) supposed to show the most important clastic dikes occurrences in the studied area. Basically, the sedimentary intrusions are formed by fine sand or silt size particles and had penetrated host rocks as near-vertical, centimeter thick, dykes (most common form) or as horizontal sheets, forming clastic sills (subsidiary form), both with variable geometric forms and dimensions. A lot of dyke walls show undulations suggesting pre-diagenetic clastic intrusions, probably near the ancient depositional surface. Almost all intrusions occur in the superior third portion of the Corumbataí Formation and some similar features seem to appear in the adjoining superposed Pirambóia Formation base. In this article the authors defend a seismic origin hypothesis for the clastic intrusions. It is important to mention that clastic intrusions tend to occur linked to expressive seismic events, with magnitude upper to 5. The analysis of isopach maps of the Permian and Mesozoic units of the Paraná Sedimentary Basin in the study area suggests a depositional system changing, from epicontinental sea conditions to shallow platform and, finally, to coastal deserts. Probably, this environmental change was driven by regional uplift accompanied by seismic events. It is possible that ancient seismicity triggered liquefaction processes and the resulting clastic intrusions. In this sense, those clastic features might be properly namedseismites.
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Includes bibliography
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Pós-graduação em Agronomia (Ciência do Solo) - FCAV
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Pós-graduação em Genética - IBILCE