953 resultados para Polygenic inheritance
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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O objetivo deste trabalho foi estudar o controle genético da formação de embriões somáticos da cultivar IAS-5 de soja. O experimento foi conduzido em casa de vegetação, cultivando-se quatro plantas por vaso, sob fotoperíodo de 14 horas e temperatura em torno de 28°C. Efetuaram-se cruzamentos entre os parentais não-embriogênicos (cultivares IAC-6, Paraná e IAC-15) e embriogênico (cultivar IAS-5) e retrocruzamentos para obtenção das gerações F1, F2,RC1P1 e RC1P2. Cotilédones imaturos, com 4-6 mm de comprimento, derivados dos parentais das gerações F1, F2, RC1P1 e RC1P2 foram cultivados em placas de Petri contendo meio N10, por um período de 90 dias, em câmara de crescimento. Os embriões somáticos derivados da indução foram contados, e os números, usados para obtenção dos parâmetros genéticos. Os resultados obtidos mostraram que o caráter capacidade de produção de embriões somáticos da cultivar IAS-5 é de natureza quantitativa e controlado por, aproximadamente, 20 genes.
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Os objetivos deste trabalho foram confirmar a herança da resistência da PI 459025 (Rpp4) à ferrugem-asiática-da-soja e identificar marcadores moleculares do tipo RAPD, ligados a este gene de resistência, em populações de soja. Pelo cruzamento dos genitores contrastantes PI 459025 x Coodetec 208 obteve-se uma população, cujas populações das gerações F2 e F2:3 foram artificialmente infectadas e avaliadas quanto à reação ao fungo Phakopsora pachyrhizi, pelo tipo de lesão (RB - resistente e TAN - suscetível). Com os resultados da avaliação fenotípica, dois bulks foram obtidos com DNA de plantas homozigóticas resistentes e suscetíveis, respectivamente, pela análise de bulks segregantes. de 600 iniciadores RAPD aleatórios, foram identificados três com fragmentos polimórficos entre os bulks e parentais contrastantes quanto à resistência. Pela análise do qui-quadrado, confirmaram-se: a herança monogênica, com dominância completa quanto à resistência ao patógeno, e a segregação 3:1 para a presença de banda dos três marcadores. Os três marcadores são ligados respectivamente a 5,1, 6,3 e 14,7 cM de distância do loco de resistência, em fase de repulsão no grupo de ligação G, o que foi confirmado pela utilização do marcador microssatélite Satt288. Estes marcadores são promissores na seleção assistida para resistência à ferrugem-asiática-da-soja.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.
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The objective of this work is to understand some of the modifications caused for the phenomenon of the westernization in the hinterland of the Capitania do Rio Grande e in the life of the indians populations that inhabited there during the Colonial Period. We break of the quarrel of Serge Gruzinski concerning the westernization, understood while immersed phenomenon in the context of the expansion of the commercial capitalism and that, for the imposition of the culture occidental person to the alteridades of the New World, emprende the conquest of its territories, bodies and souls. The space clipping has covered the hinterland of the Capitania do Rio Grande, specifically the colonial territory of the Freguesia da Gloriosa Senhora Santa Ana do Seridó. The chosen chronological limit for the research corresponds to the Colonial Period and part of the Imperial one. However, the emphasis falls again on the period that it initiates in 1670, year of the oldest concession of would sesmaria known until the moment in the hinterland of the Rio Grande, extending itself until the decade of 1840. Sources of written by hand nature, cartographic printed and compose the used document roll: official correspondence and legislation, petitions of would sesmaria, inventories post-mortem, justifications of debt, registers of parish, maps, action civil court jurisdiction, notes of notary's office, land landmarks. We take the method, analyzed for Carlo Ginzburg, to cross these sources between itself and to detect its implied particularitities and ideas in the space between lineses, but, attributing it status to they of a colonial speech, fruit of the bureaucracy of where it was originated and of the social place of who produced it. We look for to demonstrate, throughout the work, that the phenomenon of the westernization desestruturou the aboriginal societies and its habitat, constructing, over its rubbles, a colonial territory that found in the cartography of the Freguesia de Santa Ana an efficient instrument of control of the space and the population. On the other hand, if the imposition of the culture occidental person exterminou great part of the native population that inhabited the hinterland of the Rio Grande, the remainders of these indians and the mestizos of descending them had survived in diverse ways in the freguesia: in the condition of captives of war or in regimen of servile work, as living or assistants in the farms, populations and village; rambling without route in the fields and the population spots; as mediating agents between the world occidental person and the native, exerting military or civil positions and still appealing to Justice in search of its rights of inheritance. Experiences of slavery, servitude, errância and mediation, but, also of resistance, adaptation, mestization in the Freguesia de Santa Ana
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Place Attachment is a positive affective bond between people and environments, and its main characteristic is the desire to maintain closeness to the place of attachment. Neighborhoods, in turn, are spaces close to the dwelling, which varies according to environmental, social and cultural characteristics. Facing the contemporary scenario of diminishment of neighborhood relations and its importance to the understanding of cities social-environmental context, the present work aimed to investigate the attachment to neighborhoods at the city of Natal-RN. This study had two stages. The first stage consisted on investigating, through an experts panel, the main characteristics of attached neighborhoods, aspects that contributes to the development of these neighborhoods, the ones that difficult, as well as look for indications of neighborhoods at the city of Natal that may be identified by these elements. In the following stage I interviewed 11 residents of two indicated neighborhoods at the district of Alecrim, to better comprehend the main characteristics of this attachment and the elements of the context that enable its development. The content of the interviews, categorized and evaluated by judges, indicated that, due to the 10 participant experts, the main characteristics of attached neighborhoods encompass elements of socialization, cooperation, physical space usage, intimacy and identity. According to them, these are characteristics enabled by temporal and rootedness aspects, by spatial contact, familiarity between neighbors, and cultural inheritance. The interviews with residents showed that attachment to the studied neighborhoods is specially grounded on support and cooperation networks between neighbors, on satisfaction with the proximity of services, and on the bond to symbolic aspects and local traditions. In addition to be enabled by spatial organization, by low displacement of residents, and by the district s history, relations at these neighborhoods are fostered by an intention to establish this kind of ties, carried by cultural values
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Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance. (C) 2007 Wiley-Liss, Inc.
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The Borborema Province (BP) is a geologic domain located in Northeastern Brazil. The BP is limited at the south by the São Francisco craton, at the west by the Parnaíba basin, and both at the north and east by coastal sedimentary basins. Nonetheless the BP surface geology is well known, several key aspects of its evolution are still open, notably: i)its tectonic compartmentalization established after the Brasiliano orogenesis, ii) the architecture of its cretaceous continental margin, iii) the elastic properties of its lithosphere, and iv) the causes of magmatism and uplifting which occurred in the Cenozoic. In this thesis, a regional coverage of geophysical data (elevation, gravity, magnetic, geoid height, and surface wave global tomography) were integrated with surface geologic information aiming to attain a better understanding of the above questions. In the Riacho do Pontal belt and in the western sector of the Sergipano belt, the neoproterozoic suture of the collision of the Sul domain of the BP with the Sanfranciscana plate (SFP) is correlated with an expressive dipolar gravity anomaly. The positive lobule of this anomaly is due to the BP lower continental crust uplifting whilst the negative lobule is due to the supracrustal nappes overthrusting the SFP. In the eastern sector of the Sergipano belt, this dipolar gravity anomaly does not exist. However the suture still can be identified at the southern sector of the Marancó complex arc, alongside of the Porto da Folha shear zone, where the SFP N-S geophysical alignments are truncated. The boundary associated to the collision of the Ceará domain of the BP with the West African craton is also correlated with a dipolar gravity anomaly. The positive lobule of this anomaly coincides with the Sobral-Pedro II shear zone whilst the negative lobule is associated with the Santa Quitéria magmatic arc. Judging by their geophysical signatures, the major BP internal boundaries are: i)the western sector of the Pernambuco shear zone and the eastern continuation of this shear zone as the Congo shear zone, ii) the Patos shear zone, and iii) the Jaguaribe shear zone and its southwestern continuation as the Tatajuba shear zone. These boundaries divide the BP in five tectonic domains in the geophysical criteria: Sul, Transversal, Rio Grande do Norte, Ceará, and Médio Coreaú. The Sul domain is characterized by geophysical signatures associated with the BP and SFP collision. The fact that Congo shear zone is now proposed as part of the Transversal domain boundary implies an important change in the original definition of this domain. The Rio Grande do Norte domain presents a highly magnetized crust resulted from the superposition of precambrian and phanerozoic events. The Ceará domain is divided by the Senador Pompeu shear zone in two subdomains: the eastern one corresponds to the Orós-Jaguaribe belt and the western one to the Ceará-Central subdomain. The latter subdomain exhibits a positive ENE-W SW gravity anomaly which was associated to a crustal discontinuity. This discontinuity would have acted as a rampart against to the N-S Brasiliano orogenic nappes. The Médio Coreaú domain also presents a dipolar gravity anomaly. Its positive lobule is due to granulitic rocks whereas the negative one is caused by supracrustal rocks. The boundary between Médio Coreaú and Ceará domains can be traced below the Parnaíba basin sediments by its geophysical signature. The joint analysis of free air anomalies, free air admittances, and effective elastic thickness estimates (Te) revealed that the Brazilian East and Equatorial continental margins have quite different elastic properties. In the first one 10 km < Te < 20 km whereas in the second one Te ≤ 10 km. The weakness of the Equatorial margin lithosphere was caused by the cenozoic magmatism. The BP continental margin presents segmentations; some of them have inheritance from precambrian structures and domains. The segmentations conform markedly with some sedimentary basin features which are below described from south to north. The limit between Sergipe and Alagoas subbasins coincides with the suture between BP and SFP. Te estimates indicates concordantly that in Sergipe subbasin Te is around 20 km while Alagoas subbasin has Te around 10 km, thus revealing that the lithosphere in the Sergipe subbasin has a greater rigidity than the lithosphere in the Alagoas subbasin. Additionally inside the crust beneath Sergipe subbasin occurs a very dense body (underplating or crustal heritage?) which is not present in the crust beneath Alagoas subbasin. The continental margin of the Pernambuco basin (15 < Te < 25 km) presents a very distinct free air edge effect displaying two anomalies. This fact indicates the existence in the Pernambuco plateau of a relatively thick crust. In the Paraíba basin the free air edge effect is quite uniform, Te ≈ 15 km, and the lower crust is abnormally dense probably due to its alteration by a magmatic underplating in the Cenozoic. The Potiguar basin segmentation in three parts was corroborated by the Te estimates: in the Potiguar rift Te ≅ 5 km, in the Aracati platform Te ≅ 25 km, and in the Touros platform Te ≅ 10 km. The observed weakness of the lithosphere in the Potiguar rift segment is due to the high heat flux while the relatively high strength of the lithosphere in the Touros platform may be due to the existence of an archaean crust. The Ceará basin, in the region of Mundaú and Icaraí subbasins, presents a quite uniform free air edge effect and Te ranges from 10 to 15 km. The analysis of the Bouguer admittance revealed that isostasy in BP can be explained with an isostatic model where combined surface and buried loadings are present. The estimated ratio of the buried loading relative to the surface loading is equal to 15. In addition, the lower crust in BP is abnormally dense. These affirmations are particularly adequate to the northern portion of BP where adherence of the observed data to the isostatic model is quite good. Using the same above described isostatic model to calculate the coherence function, it was obtained that a single Te estimate for the entire BP must be lower than 60 km; in addition, the BP north portion has Te around 20 km. Using the conventional elastic flexural model to isostasy, an inversion of crust thickness was performed. It was identified two regions in BP where the crust is thickened: one below the Borborema plateau (associated to an uplifting in the Cenozoic) and the other one in the Ceará domain beneath the Santa Quitéria magmatic arc (a residue associated to the Brasiliano orogenesis). On the other hand, along the Cariri-Potiguar trend, the crust is thinned due to an aborted rifting in the Cretaceous. Based on the interpretation of free air anomalies, it was inferred the existence of a large magmatism in the oceanic crust surrounding the BP, in contrast with the incipient magmatism in the continent as shown by surface geology. In BP a quite important positive geoid anomaly exists. This anomaly is spatially correlated with the Borborema plateau and the Macaú-Queimadas volcanic lineament. The integrated interpretation of geoid height anomaly data, global shear velocity model, and geologic data allow to propose that and Edge Driven Convection (EDC) may have caused the Cenozoic magmatism. The EDC is an instability that presumably occurs at the boundary between thick stable lithosphere and oceanic thin lithosphere. In the BP lithosphere, the EDC mechanism would have dragged the cold lithospheric mantle into the hot asthenospheric mantle thus causing a positive density contrast that would have generated the main component of the geoid height anomaly. In addition, the compatibility of the gravity data with the isostatic model, where combined surface and buried loadings are present, together with the temporal correlation between the Cenozoic magmatism and the Borborema plateau uplifting allow to propose that this uplifting would have been caused by the buoyancy effect of a crustal root generated by a magmatic underplating in the Cenozoic
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A morpho-structural analysis was performed in the uplifted siliciclastic deposits of the Serra do Martins Formation along the Portalegre, Martins and Santana plateaux, in the southeastern and central regions of Rio Grande do Norte State. Due to the lack of biostratigraphic records, this formation has a disputable age.The adopted approach was based on the analysis of the drainage patterns and in the recognition of topographic surfaces and regional structures, subjected to neotectonic deformation and rejuvenation the present stress field. These events are recorded in the lineament arrays and as anomalous features of the landscape, such as the uplifted plateaux.The morpho-sculptural evolution of the studied blocks is expressed as erosive and accumulative processes. The former ones include erosional scarpments, cuestas and amphitheaters as the most characteristic features, while debris slopes represent acumulative examples. Such elements attest to the recent disequilibrium of the plateaux, and the absence of well developed alluvium terraces suggest an accelerated uplift process. The directions of the linear features observed in remote sensing products evidence the control of the basement structural trends, inherited from the pre-Cenozoic evolution. The NNE-SSW direction controls the main erosional features of the plateaux, while the N-S direction is a major drainage control, being also recognized in the Potiguar Basin. An E-W trend occurs as a less developed direction, reflecting either a system of mesozoic basic dykes or precambrian brittle structures. As regards to the drainage arrays, an arborescent, varying to a roughly N-S rectangular pattern, was identified in the Portalegre-Martins block. The Santana plateau displays rectilinear (northern border) and dendritic arborescent (southern border) patterns. In the sedimentary cover, the drainage pattern varies from rectangular to angular, reflecting inheritance from the crystaline basement. The most significative directions, N, NE and NW, mark the erosional fronts of the plateaux. Drainage anomalies, characterized by elbows or paralell confluencies, reinforce the arguments mentioned above. The data sets evidence the relationships between endogenous (lithology, structures) and exogenous features as the main controls of terrain dissecation, associated to vertical (epirogenesis) movements and horizontal tectonics. A final discussion addresses the relationships of the Serra do Martins Formation with the sedimentary record of Potiguar Basin, trying to establish chronostratigraphic links with the main evolutionary steps of this part of the Borborema Province, and possible mechanisms involved in the uplift of the plateaux and other stratigraphic units in the region
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Este estudo se reporta às funções de células natural killer (NK), como adesão, lise e citotoxicidade e de subpopulações de células T em uma família com alta prevalência de pacientes com câncer e que apresentaram: glioblastoma, leucemia mielóide crônica, osteoblastoma, melanoma e carcinomas gástrico, pancreático e cólon retal. Quinze membros dessa família foram estudados, sendo 13 sadios, acompanhados por 5 anos e dois com câncer: glioblastoma e leucemia mielóide crônica. Duas pessoas sadias, no momento da avaliação, desenvolveram posteriormente osteoblastoma mandibular ou melanoma maligno. Como controle, foram avaliados 19 indivíduos saudáveis de faixa etária equivalente. A determinação de linfócitos T CD3+ e de suas subpopulações CD4+ e CD8+ foi realizada empregando-se anticorpos monoclonais e a atividade citotóxica de células NK, avaliada pelo teste de single-cell contra células alvo da linhagem eritroleucêmica K562. Os resultados mostraram que as percentagens de células T totais (CD3+), da subpopulação CD4+ e da relação CD4/CD8 foram significativamente menores nos indivíduos da família estudada em comparação aos valores observados no grupo controle. em todos os membros dessa família a percentagem de formação de conjugados entre células NK-células alvo foi inferior ao valor mínimo observado nos controles. Essa alteração poderia estar relacionada a defeito na expressão de moléculas de adesão, presentes na membrana de células NK, como provável causa das alterações funcionais dessas células. A herança dos mecanismos determinantes desta deficiência pode ser um fator de risco, com valor prognóstico para o desenvolvimento de cancer.
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Background: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species.Results: Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were photophobia and a lack of pigmentation of the hair, skin, horns, hooves, mucosa, and iris. The results of segregation analysis suggest that this disease is acquired through recessive inheritance. In the OCA buffalo, a single-base substitution was detected at nucleotide 1,431 (G to A), which leads to the conversion of tryptophan into a stop codon at residue 477.Conclusion: This premature stop codon produces an inactive protein, which is responsible for the OCA buffalo phenotype. These findings will be useful for future studies of albinism in buffalo and as a possible model to study diseases caused by a premature stop codon.
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The cleidocranial dysplasia is a rare disease which can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of genre or ethnic group. The odontologist is, most of the times, the first professional who patients look for to solve the problem, since there is a delay in the eruption and/or an absence of permanent teeth. In the case related in this work, this was the reason why the patient looked for treatment. Many others odontological problems are also present in this syndrome, such as, supernumerary teeth, retained teeth, with shape deviation and absence of deciduous teeth resorption. The premature diagnosis allows a proper orientation for the treatment, offering a better life quality for the patient.
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A manutenção e/ou a ampliação da terra compõem o eixo central em torno do qual os produtores familiares organizam sua vida e seu trabalho. Este artigo analisa as estratégias desses produtores em relação à divisão de herança e à sucessão, e as formas que utilizam para aquisição de novas áreas. O levantamento das características das famílias e da propriedade foi realizado por meio de um questionário aplicado junto a 89 produtores familiares de três municípios da mesorregião de São José do Rio Preto (SP). Posteriormente foi entrevistado um terço dos produtores de cada município que havia respondido ao questionário. A análise das estratégias fundiárias mostrou uma grande diversidade na forma de partilhar a herança e de conduzir a sucessão, sendo que ambos os processos são apoiados, basicamente, em regras tradicionais, embora mantenham uma fachada de adequação às normas legais. Quanto às estratégias de aquisição de mais terras, observou-se que os produtores são capazes de organizar complexas formas de capitalização, centradas em maiores esforços no trabalho e na contenção de gastos, além da utilização de políticas públicas favoráveis e de práticas costumeiras. Os arranjos intra-familiares e as formas de cooperação ligadas ao parentesco mais amplo também se mostraram importantes para a ampliação da propriedade.