935 resultados para Dogs -- Diseases -- Genetic aspects


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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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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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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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Pós-graduação em Medicina Veterinária - FMVZ

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Pós-graduação em Genética - IBILCE

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Agronomia (Proteção de Plantas) - FCA

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Pós-graduação em Agronomia (Proteção de Plantas) - FCA

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)