946 resultados para genetic relationship


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Scrotal circumference (SC) is a simple, non-invasive measurement commonly used to evaluate bull breeding potential although its validity as a predictor of fertility is questionable (Holroyd, 1998). SC is highly heritable but varies with breed and animal factors such as condition, live weight and age. As an indicator of fertility, recommended SC values range broadly from 30cm to 38cm (Miller, 1992). It is assumed that SC accurately reflects testes mass (TM) which may be related to direct measures of fertility such as spermatogenesis (Entwistle, 1992). The SC measurements made here test the assumption that SC, used to estimate testes volume (TV), is directly related to TM. Miller (1992) reported a value of 261mm as the SC threshold for puberty. We have studied serial SC measurements so as to devise a more accurate means of using SC to determine puberty.

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Estimates of genetic parameters are presented for staple length and staple strength for 15 month old, medium Peppin sheep at Longreach and Julia Creek Queensland. The effects of birth type, sex and year of birth are shown. There were significant interactions for sex by site and for sex by year of birth. Heritability of staple length and strength were respectively 0.75 and 0.37 for the Longreach flock and 0.70 and 0.23 for the Julia Creek flock. The heritability of staple strength agrees with other published data however the estimate for staple length is very high. Phenotypic and genetic correlations with greasy fleece weight, yield, clean fleece weight, average fibre diameter and liveweight are in general agreement with other published estimates. Animal production for a consuming world : proceedings of 9th Congress of the Asian-Australasian Association of Animal Production Societies [AAAP] and 23rd Biennial Conference of the Australian Society of Animal Production [ASAP] and 17th Annual Symposium of the University of Sydney, Dairy Research Foundation, [DRF]. 2-7 July 2000 University of New South Wales, Sydney, Australia.

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A molecular marker-based map of perennial ryegrass (Lolium perenne L.) has been constructed through the use of polymorphisms associated with expressed sequence tags (ESTs). A pair-cross between genotypes from a North African ecotype and the cultivar Aurora was used to generate a two-way pseudo-testcross population. A selection of 157 cDNAs assigned to eight different functional categories associated with agronomically important biological processes was used to detect polymorphic EST–RFLP loci in the F1(NA6 × AU6) population. A comprehensive set of EST–SSR markers was developed from the analysis of 14,767 unigenes, with 310 primer pairs showing efficient amplification and detecting 113 polymorphic loci. Two parental genetic maps were produced: the NA6 genetic map contains 88 EST–RFLP and 71 EST–SSR loci with a total map length of 963 cM, while the AU6 genetic map contains 67 EST–RFLP and 58 EST–SSR loci with a total map length of 757 cM. Bridging loci permitted the alignment of homologous chromosomes between the parental maps, and a sub-set of genomic DNA-derived SSRs was used to relate linkage groups to the perennial ryegrass reference map. Regions of segregation distortion were identified, in some instances in common with other perennial ryegrass maps. The EST-derived marker-based map provides the basis for in silico comparative genetic mapping, as well as the evaluation of co-location between QTLs and functionally associated genetic loci.

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New antiretroviral drugs that offer large genetic barriers to resistance, such as the recently approved inhibitors of HIV-1 protease, tipranavir and darunavir, present promising weapons to avert the failure of current therapies for HIV infection. Optimal treatment strategies with the new drugs, however, are yet to be established. A key limitation is the poor understanding of the process by which HIV surmounts large genetic barriers to resistance. Extant models of HIV dynamics are predicated on the predominance of deterministic forces underlying the emergence of resistant genomes. In contrast, stochastic forces may dominate, especially when the genetic barrier is large, and delay the emergence of resistant genomes. We develop a mathematical model of HIV dynamics under the influence of an antiretroviral drug to predict the waiting time for the emergence of genomes that carry the requisite mutations to overcome the genetic barrier of the drug. We apply our model to describe the development of resistance to tipranavir in in vitro serial passage experiments. Model predictions of the times of emergence of different mutant genomes with increasing resistance to tipranavir are in quantitative agreement with experiments, indicating that our model captures the dynamics of the development of resistance to antiretroviral drugs accurately. Further, model predictions provide insights into the influence of underlying evolutionary processes such as recombination on the development of resistance, and suggest guidelines for drug design: drugs that offer large genetic barriers to resistance with resistance sites tightly localized on the viral genome and exhibiting positive epistatic interactions maximally inhibit the emergence of resistant genomes.

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Using computer modeling of three-dimensional structures and structural information available on the crystal structures of HIV-1 protease, we investigated the structural effects of mutations, in treatment-naive and treatment-exposed individuals from India and postulated mechanisms of resistance in clade C variants. A large number of models (14) have been generated by computational mutation of the available crystal structures of drug bound proteases. Localized energy minimization was carried out in and around the sites of mutation in order to optimize the geometry of interactions present. Most of the mutations result in structural differences at the flap that favors the semiopen state of the enzyme. Some of the mutations were also found to confer resistance by affecting the geometry of the active site. The E35D mutation affects the flap structure in clade B strains and E35N and E35K mutation, seen in our modeled strains, have a more profound effect. Common polymorphisms at positions 36 and 63 in clade C also affected flap structure. Apart from a few other residues Gln-58, Asn-83, Asn-88, and Gln-92 and their interactions are important for the transition from the closed to the open state. Development of protease inhibitors by structure-based design requires investigation of mechanisms operative for clade C to improve the efficacy of therapy.

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Genetic and phenotypic parameters are presented for production traits, greasy fleece weight (GFW), yield (YLD), clean fleece weight (CFW), average fibre diameter (DIAM) and liveweight (LWT), in 15 month old medium Peppin Merino sheep at Longreach and Julia Creek, Queensland. Heritabilities for GFW, YLD, CFW, DIAM and LWT were respectively 0.35, 0.62, 0.34, 0.74, and 0.37 for Longreach and 0.23, 0.52, 0.20, 0.67 and 0.56 for Julia Creek. Most estimates were consistent with other reported values. AAABG 13th Conference; Proceedings of the Association for the Advancement of Animal Breeding and Genetics.

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Genetic and phenotypic parameters for respiration rate (RR) and rectal temperature (RT) are presented for weaner and hogget Merino rams, at Longreach and Julia Creek, Queensland. Heritability estimates for RT and RR at both sites and at both ages ranged from moderate to very high. Phenotypic and genetic correlations between these characters are also reported. AAABG 14th Conference; Proceedings of the Association for the Advancement of Animal Breeding and Genetics. AAABG

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Background MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic variants studied in relation to breast cancer. Studies aimed at identifying miRNA SNPs (miR-SNPs) associated with breast malignancies could lead towards further understanding of the disease and to develop clinical applications for early diagnosis and treatment. Methods We genotyped a panel of 24 miR-SNPs using multiplex PCR and chip-based matrix assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry (MS) analysis in two Caucasian breast cancer case control populations (Primary population: 173 cases and 187 controls and secondary population: 679 cases and 301 controls). Association to breast cancer susceptibility was determined using chi-square (X 2 ) and odds ratio (OR) analysis. Results Statistical analysis showed six miR-SNPs to be non-polymorphic and twelve of our selected miR-SNPs to have no association with breast cancer risk. However, we were able to show association between rs353291 (located in MIR145) and the risk of developing breast cancer in two independent case control cohorts (p = 0.041 and p = 0.023). Conclusions Our study is the first to report an association between a miR-SNP in MIR145 and breast cancer risk in individuals of Caucasian background. This finding requires further validation through genotyping of larger cohorts or in individuals of different ethnicities to determine the potential significance of this finding as well as studies aimed to determine functional significance. Keywords: Association analysis; Breast cancer; microRNA; miR-SNPs; MIR145

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Multiphenotype genome-wide association studies (GWAS) may reveal pleiotropic genes, which would remain undetected using single phenotype analyses. Analysis of large pedigrees offers the added advantage of more accurately assessing trait heritability, which can help prioritise genetically influenced phenotypes for GWAS analysis. In this study we performed a principal component analysis (PCA), heritability (h2) estimation and pedigree-based GWAS of 37 cardiovascular disease -related phenotypes in 330 related individuals forming a large pedigree from the Norfolk Island genetic isolate. PCA revealed 13 components explaining >75% of the total variance. Nine components yielded statistically significant h2 values ranging from 0.22 to 0.54 (P<0.05). The most heritable component was loaded with 7 phenotypic measures reflecting metabolic and renal dysfunction. A GWAS of this composite phenotype revealed statistically significant associations for 3 adjacent SNPs on chromosome 1p22.2 (P<1x10-8). These SNPs form a 42kb haplotype block and explain 11% of the genetic variance for this renal function phenotype. Replication analysis of the tagging SNP (rs1396315) in an independent US cohort supports the association (P = 0.000011). Blood transcript analysis showed 35 genes were associated with rs1396315 (P<0.05). Gene set enrichment analysis of these genes revealed the most enriched pathway was purine metabolism (P = 0.0015). Overall, our findings provide convincing evidence for a major pleiotropic effect locus on chromosome 1p22.2 influencing risk of renal dysfunction via purine metabolism pathways in the Norfolk Island population. Further studies are now warranted to interrogate the functional relevance of this locus in terms of renal pathology and cardiovascular disease risk.

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Aim: The purpose of this study was to determine the percentage of patients assessed as malnourished using the Subjective Global Assessment in two hospitals in Ho Chi Minh City and Can Tho across multiple wards; and to investigate the association with factors including gender, age, days since admission, medical diagnosis and number of medications used. Methods: This cross-sectional study involved 205 inpatients from a hospital in Ho Chi Minh City and 78 inpatients and 89 outpatients from a hospital in Can Tho. Malnutrition status was assessed using Subjective Global Assessment. Ward, gender, age, medical diagnosis, time since admission and medication number were extracted from medical records. Results: 35.6% of inpatients and 9.0% of outpatients were malnourished. Multivariate analysis revealed factors predicting malnutrition status within inpatients (OR (95%CI)) were: age (OR = 1.03 (1.01-1.06)); cancer diagnosis (OR = 34.25 (3.16-370.89)); respiratory ward (11.49 (1.05-125.92)); or general medicine ward (20.34 (2.10-196.88)). Conclusions: Results indicate that malnutrition is a common problem in hospitals in Vietnam. Further research is needed to confirm this finding across a wider range of hospitals and to investigate the feasibility and efficacy of implementation of nutrition interventions in hospital settings.

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This work offers a systematic phenomenological investigation of the constitutive significance of embodiment. It provides detailed analyses of subjectivity in relation to itself, to others, and to objective reality, and it argues that these basic structures cannot be made intelligible unless one takes into account how they are correlated with an embodied subject. The methodological and conceptual starting point of the treatise is the philosophy of Edmund Husserl. The investigation employs the phenomenological method and uses the descriptions and analyses provided by Husserl and his successors. The treatise is motivated and outlined systematically, and textual exegesis serves as a means for the systematic phenomenological investigation. The structure of the work conforms to the basic relations of subjectivity. The first part of the thesis explores the intimate relation between lived-body and selfhood, analyzes the phenomena of localization, and argues that self-awareness is necessarily and fundamentally embodied self-awareness. The second part examines the intersubjective dimensions of embodiment, investigates the corporal foundations of empathy, and unravels the bodily aspects of transcendental intersubjectivity. The third part scrutinizes the role of embodiment in the constitution of the surrounding objective reality: it focuses on the complex relationship between transcendental subjectivity and transcendental intersubjectivity, carefully examines the normative aspects of genetic and generative self-constitution, and argues eventually that what Husserl calls the paradox of subjectivity originates in a tension between primordial and intersubjective normativity. The work thus reinterprets the paradox of subjectivity in terms of a normative tension, and claims that the paradox is ultimately rooted in the structures of embodiment. In this manner, as a whole, the work discloses the constitutive significance of embodiment, and argues that transcendental subjectivity must be fundamentally embodied.

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The potential for large-scale use of a sensitive real time reverse transcription polymerase chain reaction (RT-PCR) assay was evaluated for the detection of Tomato spotted wilt virus (TSWV) in single and bulked leaf samples by comparing its sensitivity with that of DAS-ELISA. Using total RNA extracted with RNeasy® or leaf soak methods, real time RT-PCR detected TSWV in all infected samples collected from 16 horticultural crop species (including flowers, herbs and vegetables), two arable crop species, and four weed species by both assays. In samples in which DAS-ELISA had previously detected TSWV, real time RT-PCR was effective at detecting it in leaf tissues of all 22 plant species tested at a wide range of concentrations. Bulk samples required more robust and extensive extraction methods with real time RT-PCR, but it generally detected one infected sample in 1000 uninfected ones. By contrast, ELISA was less sensitive when used to test bulked samples, once detecting up to 1 infected in 800 samples with pepper but never detecting more than 1 infected in 200 samples in tomato and lettuce. It was also less reliable than real time RT-PCR when used to test samples from parts of the leaf where the virus concentration was low. The genetic variability among Australian isolates of TSWV was small. Direct sequencing of a 587 bp region of the nucleoprotein gene (S RNA) of 29 isolates from diverse crops and geographical locations yielded a maximum of only 4.3% nucleotide sequence difference. Phylogenetic analysis revealed no obvious groupings of isolates according to geographic origin or host species. TSWV isolates, that break TSWV resistance genes in tomato or pepper did not differ significantly in the N gene region studied, indicating that a different region of the virus genome is responsible for this trait.

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The aim of this study is to examine the relationship of the Roman villa to its environment. The villa was an important feature of the countryside intended both for agricultural production and for leisure. Manuals of Roman agriculture give instructions on how to select a location for an estate. The ideal location was a moderate slope facing east or south in a healthy area and good neighborhood, near good water resources and fertile soils. A road or a navigable river or the sea was needed for transportation of produce. A market for selling the produce, a town or a village, should have been nearby. The research area is the surroundings of the city of Rome, a key area for the development of the villa. The materials used consist of archaeological settlement sites, literary and epigraphical evidence as well as environmental data. The sites include all settlement sites from the 7th century BC to 5th century AD to examine changes in the tradition of site selection. Geographical Information Systems were used to analyze the data. Six aspects of location were examined: geology, soils, water resources, terrain, visibility/viewability and relationship to roads and habitation centers. Geology was important for finding building materials and the large villas from the 2nd century BC onwards are close to sources of building stones. Fertile soils were sought even in the period of the densest settlement. The area is rich in water, both rainfall and groundwater, and finding a water supply was fairly easy. A certain kind of terrain was sought over very long periods: a small spur or ridge shoulder facing preferably south with an open area in front of the site. The most popular villa resorts are located on the slopes visible from almost the entire Roman region. A visible villa served the social and political aspirations of the owner, whereas being in the villa created a sense of privacy. The area has a very dense road network ensuring good connectivity from almost anywhere in the region. The best visibility/viewability, dense settlement and most burials by roads coincide, creating a good neighborhood. The locations featuring the most qualities cover nearly a quarter of the area and more than half of the settlement sites are located in them. The ideal location was based on centuries of practical experience and rationalized by the literary tradition.

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Over the past decades, universities have increasingly become involved in entrepreneurial activities. Despite efforts to embrace their 'third mission', universities still demonstrate great heterogeneity in terms of their involvement in academic entrepreneurship. This chapter adopts an institutional perspective to understand how organizational characteristics affect research scientists' entrepreneurial intentions. We study the impact of university culture and climate on entrepreneurial intentions, thereby specifically focusing on intentions to spin off a company. Using a sample of 437 research scientists from Swedish and German universities, our results reveal that the extent to which universities articulate entrepreneurship as a fundamental element of their mission fosters research scientists' spin-off intentions. Furthermore, the presence of university role models positively affects research scientists' propensity to engage in entrepreneurial activities, both directly and indirectly through entrepreneurial self-efficacy. Finally, research scientists working at universities which explicitly reward people for 'third mission' related output show higher levels of spin-off intentions. This study has implications for both academics and practitioners, including university managers and policy makers.

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The development of innovative methods of stock assessment is a priority for State and Commonwealth fisheries agencies. It is driven by the need to facilitate sustainable exploitation of naturally occurring fisheries resources for the current and future economic, social and environmental well being of Australia. This project was initiated in this context and took advantage of considerable recent achievements in genomics that are shaping our comprehension of the DNA of humans and animals. The basic idea behind this project was that genetic estimates of effective population size, which can be made from empirical measurements of genetic drift, were equivalent to estimates of the successful number of spawners that is an important parameter in process of fisheries stock assessment. The broad objectives of this study were to 1. Critically evaluate a variety of mathematical methods of calculating effective spawner numbers (Ne) by a. conducting comprehensive computer simulations, and by b. analysis of empirical data collected from the Moreton Bay population of tiger prawns (P. esculentus). 2. Lay the groundwork for the application of the technology in the northern prawn fishery (NPF). 3. Produce software for the calculation of Ne, and to make it widely available. The project pulled together a range of mathematical models for estimating current effective population size from diverse sources. Some of them had been recently implemented with the latest statistical methods (eg. Bayesian framework Berthier, Beaumont et al. 2002), while others had lower profiles (eg. Pudovkin, Zaykin et al. 1996; Rousset and Raymond 1995). Computer code and later software with a user-friendly interface (NeEstimator) was produced to implement the methods. This was used as a basis for simulation experiments to evaluate the performance of the methods with an individual-based model of a prawn population. Following the guidelines suggested by computer simulations, the tiger prawn population in Moreton Bay (south-east Queensland) was sampled for genetic analysis with eight microsatellite loci in three successive spring spawning seasons in 2001, 2002 and 2003. As predicted by the simulations, the estimates had non-infinite upper confidence limits, which is a major achievement for the application of the method to a naturally-occurring, short generation, highly fecund invertebrate species. The genetic estimate of the number of successful spawners was around 1000 individuals in two consecutive years. This contrasts with about 500,000 prawns participating in spawning. It is not possible to distinguish successful from non-successful spawners so we suggest a high level of protection for the entire spawning population. We interpret the difference in numbers between successful and non-successful spawners as a large variation in the number of offspring per family that survive – a large number of families have no surviving offspring, while a few have a large number. We explored various ways in which Ne can be useful in fisheries management. It can be a surrogate for spawning population size, assuming the ratio between Ne and spawning population size has been previously calculated for that species. Alternatively, it can be a surrogate for recruitment, again assuming that the ratio between Ne and recruitment has been previously determined. The number of species that can be analysed in this way, however, is likely to be small because of species-specific life history requirements that need to be satisfied for accuracy. The most universal approach would be to integrate Ne with spawning stock-recruitment models, so that these models are more accurate when applied to fisheries populations. A pathway to achieve this was established in this project, which we predict will significantly improve fisheries sustainability in the future. Regardless of the success of integrating Ne into spawning stock-recruitment models, Ne could be used as a fisheries monitoring tool. Declines in spawning stock size or increases in natural or harvest mortality would be reflected by a decline in Ne. This would be good for data-poor fisheries and provides fishery independent information, however, we suggest a species-by-species approach. Some species may be too numerous or experiencing too much migration for the method to work. During the project two important theoretical studies of the simultaneous estimation of effective population size and migration were published (Vitalis and Couvet 2001b; Wang and Whitlock 2003). These methods, combined with collection of preliminary genetic data from the tiger prawn population in southern Gulf of Carpentaria population and a computer simulation study that evaluated the effect of differing reproductive strategies on genetic estimates, suggest that this technology could make an important contribution to the stock assessment process in the northern prawn fishery (NPF). Advances in the genomics world are rapid and already a cheaper, more reliable substitute for microsatellite loci in this technology is available. Digital data from single nucleotide polymorphisms (SNPs) are likely to super cede ‘analogue’ microsatellite data, making it cheaper and easier to apply the method to species with large population sizes.