893 resultados para DIFFERENT GENETIC MODELS


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Alzheimer's disease (AD) and age-related macular degeneration (AMD) are both neurodegenerative disorders which share common pathological and biochemical features of the complement pathway. The aim of this study was to investigate whether there is an association between well replicated AMD genetic risk factors and AD. A large cohort of AD (n = 3898) patients and controls were genotyped for single nucleotide polymorphisms (SNPs) in the complement factor H (CFH), the Age-related maculopathy susceptibility protein 2 (ARMS2) the complement component 2 (C2), the complement factor B (CFB), and the complement component 3 (C3) genes. While significant but modest associations were identified between the complement factor H, the age-related maculopathy susceptibility protein 2, and the complement component 3 single nucleotide polymorphisms and AD, these were different in direction or genetic model to that observed in AMD. In addition the multilocus genetic model that predicts around a half of the sibling risk for AMD does not predict risk for AD. Our study provides further support to the hypothesis that while activation of the alternative complement pathway is central to AMD pathogenesis, it is less involved in AD.

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Additive and nonadditive genetic effects on preweaning weight gain (PWG) of a commercial crossbred population were estimated using different genetic models and estimation methods. The data set consisted of 103,445 records on purebred and crossbred Nelore-Hereford calves raised under pasture conditions on farms located in south, southeast, and middle west Brazilian regions. In addition to breed additive and dominance effects, the models including different epistasis covariables were tested. Models considering joint additive and environment (latitude) by genetic effects interactions were also applied. In a first step, analyses were carried out under animal models. In a second step, preadjusted records were analyzed using ordinary least squares (OLS) and ridge regression (RR). The results reinforced evidence that breed additive and dominance effects are not sufficient to explain the observed variability in preweaning traits of Bos taurus x Bos indicus calves, and that genotype x environment interaction plays an important role in the evaluation of crossbred calves. Data were ill-conditioned to estimate the effects of genotype x environment interactions. Models including these effects presented multicolinearity problems. In this case, RR seemed to be a powerful tool for obtaining more plausible and stable estimates. Estimated prediction error variances and variance inflation factors were drastically reduced, and many effects that were not significant under ordinary least squares became significant under RR. Predictions of PWG based on RR estimates were more acceptable from a biological perspective. In temperate and subtropical regions, calves with intermediate genetic compositions (close to 1/2 Nelore) exhibited greater predicted PWG. In the tropics, predicted PWG increased linearly as genotype got closer to Nelore. ©2006 American Society of Animal Science. All rights reserved.

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An example of the evolution of the interacting behaviours of parents and progeny is studied using iterative equations linking the frequencies of the gametes produced by the progeny to the frequencies of the gametes in the parental generation. This population genetics approach shows that a model in which both behaviours are determined by a single locus can lead to a stable equilibrium in which the two behaviours continue to segregate. A model in which the behaviours are determined by genes at two separate loci leads eventually to fixation of the alleles at both loci but this can take many generations of selection. Models of the type described in this paper will be needed to understand the evolution of complex behaviour when genomic or experimental information is available about the genetic determinants of behaviour and the selective values of different genomes. (c) 2007 Elsevier Inc. All rights reserved.

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Competition between seeds within a fruit for parental resources is described using one-locus-two-allele models. While a �normal� allele leads to an equitable distribution of resources between seeds (a situation which also corresponds to the parental optimum), the �selfish� allele is assumed to cause the seed carrying it to usurp a higher proportion of the resources. The outcome of competition between �selfish� alleles is also assumed to lead to an asymmetric distribution of resources, the �winner� being chosen randomly. Conditions for the spread of an initially rare selfish allele and the optimal resource allocation corresponding to the evolutionarily stable strategy, derived for species with n-seeded fruits, are in accordance with expectations based on Hamilton�s inclusive fitness criteria. Competition between seeds is seen to be most intense when there are only two seeds, and decreases with increasing number of seeds, suggesting that two-seeded fruits would be rarer than one-seeded or many-seeded ones. Available data from a large number of plant species are consistent with this prediction of the model.

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OBJECTIVE: To examine the role of androgens on birth weight in genetic models of altered androgen signalling. SETTING: Cambridge Disorders of Sex Development (DSD) database and the Swedish national screening programme for congenital adrenal hyperplasia (CAH). PATIENTS: (1) 29 girls with XY karyotype and mutation positive complete androgen insensitivity syndrome (CAIS); (2) 43 girls and 30 boys with genotype confirmed CAH. MAIN OUTCOME MEASURES: Birth weight, birth weight-for-gestational-age (birth weight standard deviation score (SDS)) calculated by comparison with national references. RESULTS: Mean birth weight SDS in CAIS XY infants was higher than the reference for girls (mean, 95% CI: 0.4, 0.1 to 0.7; p=0.02) and was similar to the national reference for boys (0.1, -0.2 to 0.4). Birth weight SDS in CAH girls was similar to the national reference for girls (0.0, -0.2 to 0.2) and did not vary by severity of gene mutation. Birth weight SDS in CAH boys was also similar to the national reference for boys (0.2, -0.2 to 0.6). CONCLUSION: CAIS XY infants have a birth weight distribution similar to normal male infants and birth weight is not increased in infants with CAH. Alterations in androgen signalling have little impact on birth weight. Sex dimorphism in birth size is unrelated to prenatal androgen exposure.

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The transitions between the different contact models which include the Hertz, Bradley, Johnson-Kendall-Roberts (JKR), Derjaguin-Muller-Toporov (DMT) and Maugis-Dugdale (MD) models are revealed by analyzing their contact pressure profiles and surface interactions. Inside the contact area, surface interaction/adhesion induces tensile contact pressure around the contact edge. Outside the contact area, whether or not to consider the surface interaction has a significant influence on the contact system equilibrium. The difference in contact pressure due to the surface interaction inside the contact area and the equilibrium influenced by the surface interaction outside the contact area are physically responsible for the different results of the different models. A systematic study on the transitions between different models is shown by analyzing the contact pressure profiles and the surface interactions both inside and outside the contact area. The definitions of contact radius and the flatness of contact surfaces are also discussed. (C) Koninklijke Brill NV, Leiden, 2008.

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Performance of any continuous speech recognition system is dependent on the accuracy of its acoustic model. Hence, preparation of a robust and accurate acoustic model lead to satisfactory recognition performance for a speech recognizer. In acoustic modeling of phonetic unit, context information is of prime importance as the phonemes are found to vary according to the place of occurrence in a word. In this paper we compare and evaluate the effect of context dependent tied (CD tied) models, context dependent (CD) and context independent (CI) models in the perspective of continuous speech recognition of Malayalam language. The database for the speech recognition system has utterance from 21 speakers including 11 female and 10 males. Our evaluation results show that CD tied models outperforms CI models over 21%.

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The effect of variation of the water model on the temperature dependence of protein and hydration water dynamics is examined by performing molecular dynamics simulations of myoglobin with the TIP3P, TIP4P, and TIP5P water models and the CHARMM protein force field at temperatures between 20 and 300 K. The atomic mean-square displacements, solvent reorientational relaxation times, pair angular correlations between surface water molecules, and time-averaged structures of the protein are all found to be similar, and the protein dynamical transition is described almost indistinguishably for the three water potentials. The results provide evidence that for some purposes changing the water model in protein simulations without a loss of accuracy may be possible.

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In order to evaluate the effect of energy intake and broiler genotype on performance, carcass yield, and fat deposition, 600 one-day-old male chicks from two different genetic groups (AgRoss 308 - commercial line and PCLC - Empresa Brasileira de Pesquisa Agropecuária (EMBRAPA) non-improved line) were fed diets with different metabolizable energy level (2950, 3200 and 3450 kcal/kg). A completely randomized experimental design in a 2X3 factorial arrangement with four replications of 25 birds per treatment was applied. In order to ensure different energy intake among treatments within each strain, feed intake was daily adjusted by pair-feeding schemes. AgRoss 308 broilers had better performance and carcass yield, and presented lower abdominal fat deposition rate. In both genetic groups, the highest dietary energy level increased weight gain, heart relative weight, and fat deposition. However, it reduced the difference between AgRoss 308 and PCLC for feed conversion ratio and carcass protein deposition. These findings allow concluding that genetic improvement had a significant effect on broiler energy metabolism, and that the highest performance differences between genetic groups are found when low-energy intake is imposed.

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Resistance to natural infection by gastrointestinal nematodes was compared in 67 female calves of the following genetic groups: Nelore (NX); 1/2 Senepol + 1/2 Nelore (SN); and 1/2 Aberdeen Angus + 1/2 Nelore (AN). The NX (n = 26), SN (n = 23) and AN (n = 18) animals were monitored for 14 months, during which they remained without treatment, allowed to graze in a tropical environment. Eggs per gram of feces (EPG), coprocultures and packed cell volume (PCV) were carried out monthly. No significant effects of the interaction between the genetic groups and month/year of collection and the genetic group on the EPG were found, but there was a significant influence of the month of collection (P < 0.01). The monthly PCV measurements did not differ for the animals of the three genetic groups and there was no association found between the EPG and PCV. The animals of the SN and NX groups showed similar numbers of EPG with results zero, while for the AN group these numbers were significantly lower (P < 0.05). Although the NX group had a large number of EPG with results zero, it also contained many animals with high counts, meaning this group had higher averages during the entire study period. The following nematode genera were found in the coprocultures: Haemonchus, Cooperia, Oesophagostomum and Trichostrongylus, the latter in smallest proportion. There was no significant difference between the genetic groups for averages of all parasites identified, except Cooperia, which were present in higher numbers in the animals of the NX group (P < 0.05). The results obtained in this experiment suggest that the use of Bos taurus x Bos indicus crossbreeds can be a good strategy to reduce the use of chemical control in Brazil. (C) 2009 Elsevier B.V. All rights reserved.

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

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Babesia bigemina infections were investigated in four genetic groups of beef cattle and in Rhipicephalus (Boophilus) microplus engorged female ticks. Blood samples and engorged female ticks were collected from 15 cows and 15 calves from each of the following genetic groups: Nelore, Angus x Nelore, Canchim x Nelore, and Simmental x Nelore. Microscopic examination of blood smears and tick hemolymph revealed that merozoites of B. bigemina (6/60) as well as kinetes of Babesia spp. (9/549) were only detected in samples (blood and ticks, respectively) originated from calves. PCR-based methods using primers for specific detection of B. bigemina revealed 100% infection in both calves and cows, regardless the genetic group. Tick infection was detected by nested-PCR amplifications showing that the frequency of B. bigemina was higher (P 0.01) in female ticks collected from calves (134/549) than in those collected from cows (52/553). The frequency of B. bigemina was similar in ticks collected from animals, either cows or calves, of the four genetic groups (P > 0.05). (C) 2008 Elsevier B.V. All rights reserved.