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Risely, Melissa. "The politics of precaution : an eco-political investigation of agricultural gene technology policy in Australia, 1992-2000." Title page, contents and abstract only, 2003. http://web4.library.adelaide.edu.au/theses/09PH/09phr5953.pdf.
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Leite, Marcelo. "Biologia total : hegemonia e informação no genoma humano." [s.n.], 2005. http://repositorio.unicamp.br/jspui/handle/REPOSIP/280489.
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Orientador: Laymert Garcia dos SantosTese (doutorado) - Universidade Estadual de Campinas, Instituto de Filosofia e Ciencias Humanas
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Resumo: A tese central deste trabalho é que a aceitação pública despertada pelo Projeto Genoma Humano só se explica pelo uso político e retórico de um determinismo genético crescentemente irreconciliável com os resultados empíricos da pesquisa genômica atual. A complexidade verificada no genoma humano e em suas interações com o meio desautoriza a manutenção de uma noção simples e unidirecional de causalidade, contrariamente ao pressuposto na idéia de gene como único portador de informação, esteio da doutrina do determinismo genético. Um complexo de metáforas informacionais e/ou lingüísticas continuo vivo nos textos publicados por biólogos moleculares na literatura científica, notadamente nos artigos veiculados nos periódicos de alto impacto Nature e Science de 15 e 16 fevereiro de 2001, respectivamente. Tais metáforas inspiram um tipo de discurso ambíguo que modula nuances variadas de retórica determinista, conforme se dirija aos próprios pares ou ao público leigo" O campo da genômica ainda está longe de rejeitar a conjunção problemática das noções de gene pré-formacionista e de gene como recurso desenvo/vimenta/ na base da metáfora do gene como informação. Essa fusão inspirada pela terminologia cibernética propicia uma versão asséptica de gene, distanciada da natureza, puramente sintática, móvel e virtual o bastante para circular desimpedida nos circuitos de produção de valor como recurso genético passível de garimpagem e de patenteamento. Críticos dã tecnociência devem desafiar o campo da genômica a reformular drasticamente as metáforas que dão suporte a seu programa hegemônico de pesquisa
Abstract: The central thesis of this work is that the public support generated for the Human Genome Project and the hype surrounding it can be explained only by the political and rhetorical uses of genetic determinism, a notion which increasingly cannot be reconciled with the empirical results of on-going genomic research. The complexity that has been uncovered in the human genome and in its interactions with the environment implies that a simple and unidirectional notion of causality cannot be maintained, contrary to a presupposition of the idea of the gene as the sole carrier of iliformation, an idea that contributes to sustain the doctrine of genetic determinism. A complex of informational and/or linguistic metaphors lives on in the texts published by molecular biologists in the scientific press, most notably in the issues published February 15thand 16thof 2001 ofthe high impact journals Nature and Science, respectively. These metaphors generate an ambiguous type of discourse that modulates various nuances of deterministic rhetoric, depending on whether it addresses peers or the lay publico The field of genomics is still a long way ITom rejecting the questionable conflation of the notions of gene as preformation and gene as developmental resource which underpins the metaphor of gene as information. This conflation inspired by cybernetics terminology enables an aseptic version of the gene, separated ITom nature, portable and virtual enough to flow unimpeded through the channels ofvalue production as genetic resource suitable for mining and patenting. Critics of technoscience should challenge the field of genomics to drastically reshape the metaphors which have supported its hegemonic research agenda
Doutorado
Doutor em Ciências Sociais
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Parahitiyawa, Nipuna Bandara. "Phylogenetic aspects of oral bacterial microbiome." Thesis, Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B43278486.
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Mellon, F. M. "Aspects of interspecific hybridization in penicillium." Thesis, University of Nottingham, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.374813.
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Cookson, William Osmond Charles Michael. "The genetics of atopy and atopic asthma." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.670273.
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Shearman, Jeremy David. "The molecular genetics of haemochromatosis." Thesis, University of Oxford, 1996. http://ora.ox.ac.uk/objects/uuid:ecb03d17-3cbf-4147-91aa-f252a2e5137e.
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Haemochromatosis is the most common single gene disorder to afflict North- West European populations. It is probably the most common genetic disorder of iron metabolism worldwide. As many as 1 in 250 people in the UK are affected and although the phenotype causes only a mild increase in gastrointestinal iron absorption a proportion of affected individuals will accumulate sufficient iron over their life-time to cause cirrhosis and hepatocellular carcinoma. Venesection treatment instituted before cirrhosis has established ensures a normal life expectancy, but clinical presentation is often late in life after irreversible organ injury has occurred. Identification of people at risk in the early, asymptomatic stage by measurements of iron status is unreliable. The genetic defect responsible for haemochromatosis has been sought in the hope that its identification might facilitate early diagnosis and that studies on the gene product would lead to a greater understanding of the mechanisms of mammalian iron absorption. Genetic linkage to HLA-A3 placed the gene responsible for haemchromatosis in, or close to, the major histocompatibilty complex (MHC) on the short arm of chromosome 6 and a positional cloning strategy has been adopted. This thesis describes work directed to the identification of the haemochromatosis gene by positional cloning. The region telomeric to the MHC was mapped using yeast artificial chromosomes, from which new microsatellites were isolated. These markers were used in linkage disequilibrium analyses and the mapping of a recombination breakpoint that defined a haemochromatosis gene region. This region was physically mapped in fine detail and positional candidates sought by EST database analysis. Before a systematic search for genes in the region began a strong positional candidate was reported (Feder et al 1996). Analysis of this mutation in patients from the UK confirmed this to be the ancestral haemochromatosis mutation.
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Jassim, Sabah A. A. "Aspects of Staphylococcal growth, haemolysis and phagocytosis." Thesis, Loughborough University, 1989. https://dspace.lboro.ac.uk/2134/31917.
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The effects of medium composition on the growth, biochemical and biological activities of selected coagulase positive and negative Staphylococci have been investigated. The study concentrated on four major points, namely: nutrient requirements; haemolysin and enzyme production; their antigenic properties; and phagocytosis of the cells. The nutrient requirements for adequate growth of Staphylococci was investigated in a chemically defined medium (CDM) for each strain to determine the supplemental, required and essential amino acids. It was found that strain/species specific differences in amino acid requirements occur amongst the six Staphylococci. The growth of Staphylococcus epidermidis showed complete biotin-independence. Additionally, media derived from fish waste extract (FE) were prepared after developing a simple rapid method to digest the fish waste. FE was found a good substitute for beef extract in culture media.
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Ivlevs, Artjoms. "Economic and political economy aspects of migration." Aix-Marseille 2, 2006. http://www.theses.fr/2006AIX24009.
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L’objectif de cette thèse est d’explorer plusieurs phénomènes liés à la migration en prenant en considération différents aspects de la réalité économique contemporaine : l’importance du secteur non-échangeable, l’asymétrie entre les flux migratoires et les flux des investissements, ainsi que les problèmes persistants entre différentes communautés ethniques. Dans le premier chapitre introductif, nous explorons la littérature sur la politique économique de l’immigration et nous étudions les différentes voies par lesquelles les immigrés peuvent affecter le bien-être des résidents domestiques. Dans la deuxième partie, nous développons un cadre théorique afin d’analyser les effets de l’immigration sur le bien-être individuel dans une petite économie ouverte avec le secteur non-échangeable. Nos résultats expliquent pourquoi les résidents domestiques sont généralement opposés à l’immigration peu qualifiée et favorisent l’influx des immigrés hautement qualifiés. Dans le chapitre trois, nous faisons une extension du modèle élaboré dans le chapitre deux, en prenant en compte les flux internationaux du capital. D’abord nous cherchons à décrire le lien entre la migration peu et hautement qualifiée et les investissements directs à l’étranger. Puis, nous analysons le changement dans les attitudes envers l’immigration suite à l’introduction de la mobilité internationale du capital. Dans le quatrième chapitre, nous démontrons comment la diversité ethnique peut affecter les intentions d’émigrer. Nous traitons le cas de la Lettonie où les minorités ethniques constituent 40% de la population. Nous pouvons constater que les individus appartenant aux minorités ethniques sont plus probables d’émigrer et que cette probabilité augmente avec le revenu. Les individus appartenant à la majorité ethnique, au contraire, sont plus probables d’émigrer si leurs revenus sont plus basThe objective of this thesis is to contribute to a better understanding of migration-related economic issues in the world today. We concentrate both on immigration and emigration and at various stages of our work address all three parties involved in migration process : people hosting immigrants, people left behind and the migrants themselves. We account for several important features of today’s rapidly globalising life : the importance of the non-traded sector, asymmetry between capital and labour flows, and persisting problems between ethnic communities. The first chapter in an overview of the political economy of immigration literature and addresses the multiple ways in which immigrants may affect natives’ welfare. In particular, we discuss the role of economic and non-economic arguments in shaping immigration attitudes and summarise main labour market and welfare-state effects of immigration. Chapter two develops open economy with a non-traded sector. Our finding provide additional understanding of why native population is generally opposed to low-skilled immigrants and favouring high-skilled foreign workers. The third chapter extends the model developed in chapter two to accommodate internationally mobile capital. First, we investigate whether immigration of high-skilled and low-skilled labour leads to positive or negative FDI. Then, we find out how would immigration attitudes change if a country allows international capital movements. Chapter four investigates how ethnic diversity at home may influence emigration intentions of an individual. We explore the case of Latvia where ethnic minorities constitute 40% of the population. We find that ethnic minorities are more likely to emigrate and are positively self-selected on the basis of income, while the opposite is true for ethnic majority population
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Standen, Graeme N. "Some aspects of genetic recombination in Drosophila melanogaster." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282210.
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Affenzeller, Michael. "Population genetics and evolutionary computation : theoretical and practical aspects /." Linz : Trauner, 2005. http://www.gbv.de/dms/ilmenau/toc/490631479affen.PDF.
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Rogers, Alex David. "Aspects of the genetics and taxonomy of marine nemerteans." Thesis, University of Liverpool, 1992. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.386867.
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Kaivorinne, A. L. (Anna-Lotta). "Frontotemporal lobar degeneration in Finland:molecular genetics and clinical aspects." Doctoral thesis, Oulun yliopisto, 2012. http://urn.fi/urn:isbn:9789526200132.
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Abstract Frontotemporal lobar degeneration (FTLD) is the second most common neurodegenerative disease leading to early-onset dementia (< 65 years), next to Alzheimer’s disease. FTLD is substantially a genetic disorder with up to 50% of cases having a positive family history. Mutations in the genes microtubule-associated protein tau (MAPT) and progranulin (PGRN) account for about 10–20% of all cases of FTLD. Hexanucleotide repeat expansion mutation within the gene C9ORF72 has recently been identified as the major cause of FTLD, FTLD with amyotrophic lateral sclerosis (ALS) and pure ALS. During this study, hexanucleotide repeat expansion within the C9ORF72 gene was shown to explain nearly 50% of familial and 30% of all FTLD cases in the Finnish population. Otherwise, the genetic background of Finnish FTLD is largely unknown. The object of the present work was to disentangle the genetic aetiology of FTLD in the Finnish population. We studied a cohort of patients with a clinical diagnosis of FTLD from the province of Northern Ostrobothnia, Finland. Sequencing analysis of the genes MAPT, charged multi-vesicular body protein 2B (CHMP2B) and TAR DNA binding protein (TARDBP) were performed and the MAPT haplotypes were analysed. Correlations between genotype and phenotype were studied in patients with C9ORF72 repeat expansion mutation. C9ORF72 expansion mutation explained nearly 30% of cases of FTLD in our cohort. Concomitant ALS and positive family history of the disease increased the possibility of carrying expanded C9ORF72. The clinical phenotype of C9ORF72 expansion carriers varied at presentation: both behavioural and language variants were detected with or without ALS. The behavioural presentations included prominent psychotic features, although psychiatric presentations were not overrepresented in expansion carriers. No pathogenic mutations were identified in the MAPT, CHMP2B and TARDBP genes in our series of FTLD patients. The H2 MAPT haplotype was associated with FTLD in the series. Our findings emphasise the importance of C9ORF72 expansion mutation in FTLD. While mutations in MAPT and PGRN cause a significant proportion of cases of FTLD worldwide, they seem to be rare causes of FTLD in the Finnish population. Besides being infrequent in other populations, mutations in CHMP2B and TARDBP are rare causes of FTLD in the Finnish population as well. Our findings have clinical implications for recognising phenotypic features characteristic of expanded C9ORF72 as well as for genetic counselling of Finnish patients with FTLD. Even though a considerable proportion of our cases of familial FTLD is caused by the C9ORF72 expansion, over 50 % of our familial cases are without a molecular genetic diagnosis, suggesting that there are other unidentified causal genes to be foundTiivistelmä Otsa-ohimolohkorappeumat on toiseksi yleisin työikäisten dementiaa aiheuttava etenevä aivojen rappeumasairaus. Toisinaan otsa-ohimolohkorappeumat esiintyvät yhdessä liikehermorappeuman, amyotrofisen lateraaliskleroosin (ALS), kanssa. Perinnöllisillä tekijöillä on todennäköisesti keskeinen merkitys taudin taustalla. Mutaatiot microtubule-associated protein tau (MAPT)- ja progranulin (PGRN) geeneissä aiheuttavat yhteensä 10–20 % otsa-ohimolohkorappeumista maailmalla. C9ORF72-geenissä sijaitsevan toistojaksomonistuman on vastikään todettu olevan yleisin otsa-ohimolohkorappeumia ja ALS:a aiheuttava mutaatio. Mutaatio on erityisen yleinen suomalaisessa väestössä selittäen lähes 50 % suvuittaisista ja 30 % kaikista otsa-ohimolohkorappeumista. Oireyhtymän perinnöllisyys on muutoin huonosti tunnettu suomalaisessa väestössä. Tutkimuksen tavoitteena oli selvittää otsa-ohimolohkorappeumien geneettisiä syitä aineistossa, joka koostui vuosina 1999–2010 Oulun yliopistollisessa sairaalassa tutkituista potilaista. Tutkimuksessa selvitettiin MAPT-, charged multi-vesicular body protein 2B (CHMP2B)- ja TAR DNA-binding protein (TARDBP) geenien mutaatioiden esiintyvyyttä ja määritettiin MAPT-geenin haplotyypit. Lisäksi tutkittiin taudin kliinisiä erityispiirteitä C9ORF72-mutaation kantajilla. C9ORF72-mutaatio selitti lähes 30 % otsa-ohimolohkorappeumista aineistossamme. Tutkimuksessa havaittiin, että suvuittain esiintyvä tautimuoto ja ALS yhdistyneenä otsa-ohimolohkorappeumaan liittyivät merkittävästi C9ORF72-mutaatioon. Monistuman kantajien fenotyyppi oli moninainen – ensioireina oli sekä käytösongelmia että kielellisiä vaikeuksia. Vaikka C9ORF72-mutaation kantajilla on kuvattu runsaasti psykoottisia oireita, psykoottiset oireet eivät olleet selvästi yliedustettuna mutaation kantajilla aineistossamme. Tutkimuksessa ei löydetty tautia aiheuttavia mutaatioita MAPT-, CHMP2B- tai TARDBP-geeneistä. Havaitsimme kuitenkin tilastollisesti merkittävän yhteyden MAPT-geenin H2-haplotyypin ja otsa-ohimolohkorappeumien välillä. Tuloksemme antavat uutta tietoa C9ORF72-mutaation kantajien kliinisistä erityispiirteistä. MAPT-geenin mutaatioiden merkitys otsa-ohimolohkorappeumien synnyssä ei näyttäisi olevan suomalaisessa väestössä niin merkittävä kuin muissa väestöissä. CHMP2B- ja TARDBP-mutaatiot ovat harvinainen oireyhtymän syy myös suomalaisessa väestössä. Tuloksiamme voidaan hyödyntää suomalaisten otsa-ohimolohkorappeumapotilaiden perinnöllisessä neuvonnassa. Huomattavista edistysaskelista huolimatta yli puolet suvuittain esiintyvistä tautitapauksistamme on vailla geneettistä diagnoosia, mikä antaa aihetta jatkotutkimuksille
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Law, Bic-fai Fian, and 羅璧輝. "Molecular genetics of esophageal squamous cell carcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B3660446X.
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Willcox, Benjamin Ernest. "Structural and functional aspects of T-cell antigen recognition." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312540.
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Kozlowski, Ryszard E. "Aspects of blast cell proliferation in acute myeloblastic leukaemia." Thesis, Nottingham Trent University, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.293853.
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Pickett, M. A. "Regulatory aspects of the gua operon of Escherichia coli." Thesis, University of Southampton, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.381272.
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Russinova, Eugenia Tzvetanova. "Molecular aspects of direct somatic embryogenesis in alfalfa (Medicago)." Thesis, De Montfort University, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.391204.
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Sheehan, Susan. "Exploring the Genetics Regulating Kidney Function." Fogler Library, University of Maine, 2007. http://www.library.umaine.edu/theses/pdf/SheehanS2007.pdf.
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Jim, Jin-to, and 詹展韜. "Genetics and molecular characterization of degenerative disc disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B35720189.
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Pradhan, Pradnya Avinash. "Political monetary cycles in Mexico." Thesis, Georgia Institute of Technology, 1998. http://hdl.handle.net/1853/28929.
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Rossaak, Jeremy Ian, and n/a. "The genetics of abdominal aortic aneurysms." University of Otago. Dunedin School of Medicine, 2004. http://adt.otago.ac.nz./public/adt-NZDU20070502.143818.
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Abdominal Aortic Aneurysms (AAA) are amongst the top ten most common cause of death in those over 55 years of age. The disease is usually asymptomatic, often being diagnosed incidentally. Once diagnosed, elective repair of an AAA results in excellent long-term survival with a 3-5% operative mortality. However, up to one half of patients present with ruptured aneurysms, a complication that carries an 80% mortality in the community, and of those reaching hospital, a 50% mortality. Clearly early diagnosis and treatment results in improved survival.
Screening for AAA, with ultrasound, would detect aneurysms early, prior to rupture. However, debate continues over the cost effectiveness of population based screening programmes. The identification of a sub-population at a higher risk of developing AAA would increase the yield of a screening prograrmne. A number of populations have been examined, none of which have received international acceptance.
About 20% of patients with an AAA have a family history of an aneurysm. The disease is also considered to be a disease of Caucasians, both facts suggesting a strong genetic component to the disease. Perhaps a genetically identified sub-population at a high risk of developing an AAA would prove to be an ideal population for screening.
This thesis examines the incidence of aneurysms and the family histories of patients with AAA in the Otago region of New Zealand. Almost twenty percent of the population has a family history of AAA. DNA was collected from each of these patients for genetic analysis. The population was divided into familial AAA and non-familial AAA for the purpose of genetic analysis and compared to a control population.
AAA is believed to be a disease of Caucasians; a non-Caucasian population with a low incidence of AAA may prove to be a good control population for genetic studies. A literature review demonstrated a higher incidence of AAA in Caucasians than other ethnic groups and within Caucasians a higher incidence in patients of Northern European origin. The incidence was low in Asian communities, even in studies involving of migrant Asian populations. The New Zealand Maori are believed to have originated from South East Asia, therefore could be expected to have a low incidence of AAA and would make an ideal control population for genetic studies. A pilot study was undertaken to examine the incidence of AAA in the New Zealand Maori. The age standardised incidence of AAA proved to be at least equal in Maori to non-Maori, with a more aggressive form of the disease in Maori, manifesting with a younger age at presentation and a higher incidence of ruptured aneurysms at diagnosis.
It is well known that at the time of surgery, an AAA is at the end stage in its life. At this time, inflammation and matrix metalloproteinases (MMP) enzymes are prevalent within the aneurysm wall and have destroyed the wall of the aorta. One of the most important genetic pathways regulating these enzymes is the plasminogen activator inhibiter 1-Tissue plasminogen activator-plasmin pathway.
Genetic analysis of this pathway demonstrated an association of the 4G5G polymorphism in the promoter of the PAl-1 gene with familial AAA. In this insertion:deletion polymorphism, the 5G variant binds an activator and repressor, resulting in reduced PAI-1 expression and ultimately increased MMP activation. This allele was associated with familial aneurysms, 47% versus 62% non-familial AAA and 61% controls (p=0.024).
A polymorphism within the tissue plasminogen activator gene was also examined and no association was found with AAA.
Another way the MMPs expression could be increased is from mutations or polymorphisms in their own genetic structure. Stromelysin 3 is itself a MMP capable of destroying the aortic wall and it has a role in activating other MMPs. A 5A6A insertion:deletion polymorphism exists in the promoter of this gene. The 5A allele variant results in increased stromelysin expression and is associated with AAA 46% versus 33% in controls p=0. 0006.
The actions of the MMPs are themselves inhibited by the tissue inhibitors of matrix metalloproteinases. The TIMP genes have been sequenced; two polymorphisms have been identified in the non-coding promoter area of the TIMP 1 gene. Further studies are necessary to examine the effect of these polymorphisms.
Inflammation has been implicated in aneurysm progression. One of the roles of the inflammatory cells found in an aneurysm is to deliver the MMP�s to the AAA. The HLA system is integral in controlling this inflammation and was therefore examined.
From this series of studies it is concluded that there is a genetic component to AAA. This thesis presents the first genetic polymorphism associated with familial AAA and explores the role of a genetic pathway in the formation of AAA.
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Lucassen, Anneke M. "Molecular genetic aspects of susceptibility to Type 1 diabetes mellitus." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.259885.
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Quinn, Julian Michael Warner. "Immunophenotypic and functional aspects of cells in bone and synovium." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305463.
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Kudina, Alina. "Policy and political aspects of foreign direct investment." Thesis, University of Oxford, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.422460.
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Maume, Patrick. "Aspects of Irish nationalist political culture 1900-18." Thesis, Queen's University Belfast, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286776.
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Smellie, R. L. "Political and governmental aspects of major technological risks." Thesis, University of Manchester, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.234228.
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au, dweston@ncwa com, and Delys Eleanor Weston. "Democracy and political economy of genetic engineering." Murdoch University, 2007. http://wwwlib.murdoch.edu.au/adt/browse/view/adt-MU20070327.143205.
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This thesis aims to provide a more critical framework for the assessment of future technologies and therefore social directions and to help to bring an understanding to the relationship between global political economy, corporate power, ideology, science and technology. This is essential given the many issues facing contemporary society issues of sustainability and humanitys place in the broad ecology, of the need for a diversity of economies, societies and cultures, of the need for greater economic equality and equity across the globe.
The relationship between globalisation, science and technology, democratic governance and citizens is explored using the case of genetic engineering technologies. The thesis draws on a conceptual framework provided by the theory of political economy to facilitate the assessment of the impact of a technology on society . It provides a critical framework for looking at individualised, sectoral and short term interests versus the often conflicting interests of what is termed the common good. The juxtaposition of the neo-liberal, conservative and contemporarily dominant world view with that of the more radical, political economy stance exposes the tension between these two ways of viewing human history and the future of humankind.
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Dobson-Stone, Carol N. M. "Molecular genetics of chorea-acanthocytosis." Thesis, University of Oxford, 2004. http://ora.ox.ac.uk/objects/uuid:3992386d-7d0d-4b88-bcf6-7170e2ba98cc.
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Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. The disorder shares features with Huntington's disease and McLeod syndrome (MLS), and can sometimes be difficult to distinguish clinically from the latter. In 1997, ChAc was linked to a 6-cM region on chromosome 9q21-22. A novel gene, >em>CHAC, was identified in the critical region. CHAC (now renamed VPS13A) encodes a large protein called chorein, with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in VPS13A were screened for mutations in 83 unrelated ChAc patients. We identified 88 different VPS13A mutations in 72 probands, comprising six deletions of entire exons, 22 nonsense, 36 frameshift, 19 splice-site and five missense mutations. This disorder therefore shows substantial allelic heterogeneity: however, evidence for common inheritance of the EX70_73del mutation in four French Canadian pedigrees indicates a possible founder effect in this population. Expression of VPS13A appears to be ubiquitous, as determined by tissue-specific analysis of mRNA and chorein distribution. However, chorein expression was markedly reduced or undetectable in lymphoblasts, fibroblasts and erythrocyte membranes from 14 ChAc patients. In contrast, MLS cells showed chorein expression similar to control levels, suggesting that loss of chorein expression is a diagnostic feature of ChAc. Yeast two-hybrid analysis of six different -600 amino-acid chorein fragments was used to screen a human brain cDNA library for proteins that may interact with chorein. One fragment interacted weakly with constructs derived from transcription factor NF-κB, putative protein phosphatase PP2Cη and TAB2, a protein implicated in the mitogen-activated kinase cascade. Although exogenously expressed chorein and TAB2 did not appear to colocalise, co-immunoprecipitation experiments supported an interaction between the two proteins, suggesting an avenue for future research into chorein function.
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Horsfield, Giles Frederick. "Behavioural aspects of the population genetics of the domestic cat." Thesis, University of Southampton, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.284672.
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Perrin, Marcus Clive. "Aspects of the ecology and genetics of Actinia colour morphs." Thesis, University of Liverpool, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.385227.
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Mendonca, A. P. A. "Some aspects of the host involvement in cowpea mosaic virus replication." Thesis, University of East Anglia, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.370391.
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Eastwood, I. M. "Some aspects of the phenotype of Methylophilus methylotrophus and preliminary genetics." Thesis, University of Kent, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.304141.
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Hart, Karen Ruth. "Aspects of determination and morphogenesis during imaginal disc development of Drosophila." Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.339502.
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Jenkins, Andrew John. "Aspects of the initiation of DNA replication in gram-negative bacteria." Thesis, University of Edinburgh, 1985. http://hdl.handle.net/1842/12288.
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Tsunekawa, Hitomi. "The interaction between humanitarian assistance and politics in complex humanitarian emergencies /." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=33939.
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This thesis examines how humanitarian assistance and political aspects interact in complex humanitarian emergencies (CHEs) in both negative and positive ways, how to minimize negative outcomes, and how humanitarian assistance can contribute to conflict resolution. Although humanitarian assistance has long been considered to be separate from politics, the division between the two has posed serious difficulties for humanitarian aid agencies responding to disasters and even has resulted in negative impacts on political and humanitarian aspects. In order to confront CHEs today, humanitarians need to collaborate conceptually and practically with political actors, while political actors need to be sensitive to humanitarian needs. A priority is considered the minimalist position, aiming at "doing no harm." Under the right circumstances, the maximalist approach can be viewed as an opportunity for maximizing the effects of humanitarian efforts to alleviate people's suffering and contributing to conflict resolution by employing humanitarian assistance as a powerful instrument.
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Smith, Samantha Gillian. "An investigation of aspects of oxidative stress in Xanthomonas campestris pathovar campestris." Thesis, University of East Anglia, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296866.
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Plant, Kathryn E. "Aspects of transcription elongation and the control of gene expression in Xenopus." Thesis, University of Nottingham, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338537.
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Bielanska, Magdalena M. "Telomeric probes for FISH, technical aspects and clinical applications." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape16/PQDD_0026/MQ37095.pdf.
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Léon, Del Rio Alfonso. "Molecular genetics of holocarboxylase synthetase deficiency." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=29074.
Full textAbstract:
The objective of this thesis was to determine the molecular basis of neonatal multiple carboxylase deficiency (MCD) produced by an impairment in holocarboxylase synthetase (HCS) activity and the origin of the biotin-responsiveness that characterizes this disease. To determine HCS activity, I developed a peptide substrate and used the biotinylation system of E: coli to determine its properties. C-terminal fragments of the $ alpha$ subunit of human propionyl-CoA carboxylase (PCC-$ alpha$) were expressed in E. coli and site-directed mutagenesis was used to define the residues required for biotinylation by the bacterial biotin ligase, BirA. These experiments showed that the biotin region of PCC-$ alpha$ can act as an autonomous domain for biotinylation and suggested its use as substrate for human HCS. For the molecular characterization of MCD, I isolated several cDNA clones encoding human HCS by functional complementation of an E. coli mutant with a temperature-sensitive BirA. Comparison of the predicted amino acid sequence of HCS with bacterial biotin ligases allowed the identification of the putative biotin-binding domain of this protein. Mutation analysis of DNA from HCS deficient patients showed that most of the changes in the HCS sequence are clustered in the biotin-binding domain. All the patients tested in this study showed deficiency of HCS activity as determined using the PCC-$ alpha$ peptide as substrate for biotinylation. The biotin-responsiveness was demonstrated by obtaining a stimulation of HCS activity of MCD cells at high biotin concentrations while remaining unstimulated in extracts of normal cells. Together with the mutation studies, these results showed that neonatal MCD is caused by mutations in the biotin binding domain of HCS which reduce the affinity of the enzyme towards biotin. This change in the kinetic properties of HCS results in the inefficient biotinylation of carboxylases at physiological concentrations of biotin. The defect can be over
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Willis, Ken. "Making sense of humor : some pragmatic and political aspects." Thesis, London Metropolitan University, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.425921.
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Thampanishvong, Kannika. "Sovereign debt crises : game theoretical and political economy aspects." Thesis, University of Warwick, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.437703.
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Mazraani, Nathalie. "Aspects of language variation in Arabic political speech-making." Thesis, University of Cambridge, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.284199.
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Cordiner, Tom Stuart. "Zionism and aspects of British political culture since 1945." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648164.
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Roth, Richard A. "Sustainable development: political/ideological aspects and implications for planning." Diss., Virginia Tech, 1993. http://hdl.handle.net/10919/39119.
Full textAbstract:
Recent evidence of widespread environmental degradation and global changes resulting from human activities have revived a debate about the sustainability of the progress of human welfare that began at least 200 years ago. In this renewed debate, the seriousness and causes of environmental degradation are subject to widely divergent interpretations. There are many conceivable sustainable futures; the most important differences among them are not technical but political and ideological.
The practice of environmental planning is concerned with a wide variety of contexts and situations at the human-environment interface. Because land use is at the root of many of the problems of environmental degradation (e.g., habitat destruction, air pollution, water pollution), land use planning is an appropriate focus for consideration of the role of environmental planning in sustainable development.
Planning as a profession, with its inherent future orientation and focus on public values, is well situated to deal with the kinds of problems raised in the discourse regarding sustainability. Examination of mainstream land use planning practices, however, reveals a reactive, reformist incrementalism that responds to environmental degradation caused by growth, but that addresses neither its causes nor its dynamics. Mainstream land use planning approaches have attempted to resolve conflicts between development and environment through spatial solutions at various scales. The need to plan for ecological sustainability is difficult to reconcile with the democratic ideal of local self-determination.
Many alternative approaches to land use planning for sustainable development focus on design solutions. The requirements of sustainability are not merely technical, however. There are both emancipatory possibilities and their opposite in sustainability. Implementing sustainability offers planners a number of choices.
They can act as mediators, demystifyers of technical information, exposers of hidden ideological assumptions, and advocates. They can strengthen existing authority, or work towards an enlightened self-determination at the local level.Ph. D.
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Ahram, Dina. "The characterization of clinical, genetic and molecular aspects of primary angle closure glaucoma in a canine genetic model." Diss., University of Iowa, 2014. https://ir.uiowa.edu/etd/1283.
Full textAbstract:
Primary angle closure glaucoma (PACG) is a chronic optic neuropathy that results in retinal ganglion cell (RGC) degeneration, cupping of the optic nerve head (ONH) and subsequent loss of vision. In humans, PACG occurs as a result of a plateau iris or more commonly, a pupillary block. Increased Intraocular pressure and reduced axial length are some of the predisposing factors to PACG. The condition occurs in several breeds of dogs and the prognosis for affected animals is typically poor. Unlike PACG in humans, the mechanism of PACG in canines involves the gradual collapse of the ciliary cleft with or without complete collapse of the irido-corneal angle. We have identified and examined several Basset Hound (BH) pedigrees with clinically confirmed PACG that segregates in an autosomal recessive manner. The goal of this proposal is to utilize the Basset Hound PACG model in order to characterize the genetics of PACG. In addition to investigating the underlying genetic mechanisms of PACG, a series of functional studies aimed at improving our understanding of the pathophysiology of PACG, were also performed to investigate the disease.
Extensive clinical phenotyping of all pedigree members was conducted by a veterinary ophthalmologist. We performed a genome-wide logistic regression test for association using 37 PACG cases and 41 unaffected controls. Population stratification and cryptic relatedness were assessed using a multidimensional scaling analysis. The expression of two candidate genes within the target tissues of the Basset Hound eye was assessed by immunohistochemistry. SNP-chip genotyping was additionally conducted in 9 affected and 15 unaffected pedigree members. Two-point and multipoint linkage analyses of genome-wide SNP data were performed using Superlink-Online SNP-1.1. Targeted exome capture was performed using the Agilent SureSelect exon kit.
A primary fibroblast cell culture was established from the sclera of three PACG, two wild type and two obligatory carrier Bassets. Total RNA extracted from fibroblast cells was assayed using the Affymetrix GeneChip Canine Genome 2.0 Array. The Robust Multichip Average expression summary method was used for background adjustment and normalization. A two class, unpaired, Wilcoxon statistical test was conducted to identify differentially expressed genes. qRT-PCR was performed to validate significantly expressed genes. Furthermore, a primary fibroblast cell culture was established from the skin of a PACG and an obligatory carrier BH. Microscope images and cell counts from all cell cultures were established at various time points.
Our findings reveal significant associations at two novel loci: BICF2P31912 in COL1A2 on chromosome 14 with a per-allele odds ratio OR(95% CI) 8.95(1.73-6.51); Pgenome = 3.6 x 10-4 and BICF2P893476 residing in proximity to RAB22A on chromosome 24 with a per-allele odds ratio OR(95% CI) = 12.03(1.78-8.66); Pgenome = 4.9 x 10-4. COL1A2 and RAB22A demonstrated wide-spread localization throughout the eye and were prominently noted in the ciliary body, trabecular meshwork and iris. A 1.82Mbp locus was additionally mapped to chromosome 19 with a maximum LOD score of 3.24. The locus contains 12 Ensemble predicted canine genes and shares synteny to a region on chromosome 2 in the human genome. Using exome-sequencing analysis, a possibly damaging, nonsynonymous variant was found to segregate with PACG in the gene Nebulin (NEB) (g.55885214 A->G, p.2051 K->R), which alters a conserved Lysine. Nebulin, a protein that promotes the contractile function of sarcomeres was found to be prominently expressed in the ciliary muscles of the anterior segment. Primary scleral fibroblast cells derived from PACG animals were found to exhibit severely reduced growth rates when compared to wild type derived cells. Genes with sharply reduced expression levels are of particular interest due to the possible involvement of a loss of- function mutation in PACG. More than 600 genes were found to be significantly under expressed in PACG derived cells. In contrast to unaffected-derived cell, PACG derived cells display significantly altered gene expression patterns for a number of possibly important candidate genes. Furthermore, PACG derived cells display aberrant and reduced motility in PACG versus wild type derived cell cultures.
The identification of two genetic associations supports the potential segregation of PACG risk-conferring variants in the Basset Hound. The genetic associations identified may contribute to mechanisms underlying the pathogenesis of PACG, which remain to be elucidated. Moreover, our studies provide the first evidence of a gene directly linked to PACG in the Basset Hound. Our findings may provide insight into the molecular mechanisms that underlie PACG. The phenotypic similarities of disease presentation in dogs and humans may enable the translation of findings made in this study to patients with PACG. The findings of our functional studies suggest that cellular dysfunction is an important aspect in the pathophysiology of PACG in the dog. The identification of genes with significantly altered expression levels may provide insight into the molecular pathways associated with the development of the disease and aid in the identification of the genetic defect underlying PACG.
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Latham, Oliver Martin. "The political economy of mass media and intelligence." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648202.
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Arnold, Thomas Clay. "Political theory and language." Diss., The University of Arizona, 1988. http://hdl.handle.net/10150/184561.
Full textAbstract:
The relationship of language to the study and practice of political theory is the subject of the following analysis. Though by no means a "new" or even overlooked topic, it has experienced keen and lively debate. This was especially the case in the 1960s and 1970s, when advocates of political theory's "demise" and/or "rebirth" as a field of inquiry both took recourse in what they deemed to be the "lessons" of language. Today, however, debate has focused on the question of whether or not a more directly linguistic approach to the study and practice of political theory (as is exhibited, for example, in the works of, among others, Habermas, Flathman, and Shapiro) is in fact "political." Increasingly, the position is today that it is not. Some (Baumgold, 1981; Gunnell, 1979) even claim language a threat to theory's properly political foundations (Chapter One). I argue the contrary. Building from both the Wittgensteinian and Habermasian schools of thought (Chapters Two and Three) and, even more importantly, from the linguistic practices of Hobbes and Tocqueville (Chapter Four), study reveals language not only relevant but central to the discipline as even Baumgold and Gunnell understand it. As will be shown below, language's significance is grounded in its value as both a unit for political analysis and as a medium for political participation.
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Guilloux, Alain. "Humanitarianism in national and global governance: a study of Taiwan's responses to diseases anddisasters." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B37894237.
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au, K. Warren@murdoch edu, and Kristin Shannon Warren. "Orang-utan conservation : epidemiological aspects of health management and population genetics." Murdoch University, 2001. http://wwwlib.murdoch.edu.au/adt/browse/view/adt-MU20070824.94929.
Full textAbstract:
This research addressed two important issues concerning conservation of orang-utans in
Indonesia, the prevalence of diseases in orang-utans at reintroduction centres and the
extent of intra-subspecific genetic variation between isolated populations of Bornean
orang-utans. The research was conducted at the Wanariset Orang-utan Reintroduction
Centre in East Kalirnantan fiom 1994 to 1997, during which time extensive field
excursions were made throughout Borneo, and at the Biomedical Primate Research
Centre in the Netherlands in 1998.
Analysis of clinical records fiom 1991 to 1997 showed that during this period 339
orang-utans were admitted to Wanariset, of which 96 (28.3%) died and 108 (31.8%)
were released. Studies were designed to identify and determine the prevalence of
diseases, specifically gastro-intestinal parasites, tuberculosis and certain viral diseases.
Further studies defined the factors associated with mortalities of orang-utans at the
reintroduction centre.
Gastro-intestinal parasites, in particular Strongyloides spp. and Balantidium coli, posed
health problems for rehabilitant orang-utans. Strongyloides spp. and Strongyle sp. eggs
and B. coli were detected in faecal samples from new arrivals, rehabilitant, released and
wild individuals. Trichuris trichura was present in new arrivals, released and rehabilitant
orang-utans, whereas Ascaris sp., and Cyclospora sp. were present only in rehabilitants.
There was a high prevalence of B. coli in new arrivals (41.6%), rehabilitants (100%) and
released individuals (100%) and a low prevalence in wild individuals (12.5%). Faecal egg counts of individuals infected with Strongyloides spp. showed that 47.8% of
rehabilitants and 14.3% of new arrivals had egg counts over 1000 eggs/gm, 81.8% of
released individuals had egg counts less than 500 eggslgm and all wild individuals had egg
counts less than 100 eggs/mg. Strongyloidosis was the primary cause of death (21.9%)
of rehabilitant orang-utans, prior to the incorporation of oral ivermectin into the parasite
control program.
There was a low prevalence of tuberculosis, which was detected in one individual
(0.8%) and suspected to have caused the death of two others (2.1% of deaths).
Diagnosis of tuberculosis in orang-utans was complicated by inaccuracies and
difficulties in interpreting the diagnostic tests commonly used in humans and nonhuman
primates. Further research is required to develop more reliable and accurate tests
for the diagnosis of tuberculosis in orang-utans.
A study of the serological prevalence of a number of viral infections in captive orangutans
showed evidence of exposure to hepatitis B virus (42.6%), hepatitis A virus
(34.9%), herpes simplex viruses (14.7%), simian D-type retroviruses (11.2%) and
human T-lymphotrogic viruses (1.4%). There was no evidence of exposure to simian or
human immunodeficiency viruses.
Molecular studies to determine the origin of the hepatitis B virus, showed the virus was
not of human origin as has been generally assumed, but was an indigenous virus which
also occurred naturally in wild populations. The virus was subsequently named Orangutan
Hepadnavirus.
A molecular study using mitochondrial DNA was undertaken to determine whether
there was significant genetic diversity between six isolated populations of wild orangutans
within Borneo. It was concluded that there are at least four genetically distinct
populations located in East Kalimantan, southwest Kalirnantdcentral Kalirnantan,
northwest KalimantdSarawak, and Sabah.
The findings of this research are discussed in terms of the implications for management
policies for reintroduction centres, as well as for the conservation of wild populations.
They will also be of relevance to zoos and primate centres.
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Warren, Kristin Shannon. "Orang-utan conservation : epidemiological aspects of health management and population genetics /." Warren, Kristin Shannon (2001) Orang-utan conservation: epidemiological aspects of health management and population genetics. PhD thesis, Murdoch University, 2001. http://researchrepository.murdoch.edu.au/392/.
Full textAbstract:
This research addressed two important issues concerning conservation of orang-utans in Indonesia, the prevalence of diseases in orang-utans at reintroduction centres and the extent of intra-subspecific genetic variation between isolated populations of Bornean orang-utans. The research was conducted at the Wanariset Orang-utan Reintroduction Centre in East Kalirnantan fiom 1994 to 1997, during which time extensive field excursions were made throughout Borneo, and at the Biomedical Primate Research Centre in the Netherlands in 1998.
Analysis of clinical records fiom 1991 to 1997 showed that during this period 339 orang-utans were admitted to Wanariset, of which 96 (28.3%) died and 108 (31.8%) were released. Studies were designed to identify and determine the prevalence of diseases, specifically gastro-intestinal parasites, tuberculosis and certain viral diseases. Further studies defined the factors associated with mortalities of orang-utans at the reintroduction centre.
Gastro-intestinal parasites, in particular Strongyloides spp. and Balantidium coli, posed health problems for rehabilitant orang-utans. Strongyloides spp. and Strongyle sp. eggs and B. coli were detected in faecal samples from new arrivals, rehabilitant, released and wild individuals. Trichuris trichura was present in new arrivals, released and rehabilitant orang-utans, whereas Ascaris sp., and Cyclospora sp. were present only in rehabilitants. There was a high prevalence of B. coli in new arrivals (41.6%), rehabilitants (100%) and released individuals (100%) and a low prevalence in wild individuals (12.5%). Faecal egg counts of individuals infected with Strongyloides spp. showed that 47.8% of rehabilitants and 14.3% of new arrivals had egg counts over 1000 eggs/gm, 81.8% of released individuals had egg counts less than 500 eggslgm and all wild individuals had egg counts less than 100 eggs/mg. Strongyloidosis was the primary cause of death (21.9%) of rehabilitant orang-utans, prior to the incorporation of oral ivermectin into the parasite control program.
There was a low prevalence of tuberculosis, which was detected in one individual (0.8%) and suspected to have caused the death of two others (2.1% of deaths). Diagnosis of tuberculosis in orang-utans was complicated by inaccuracies and difficulties in interpreting the diagnostic tests commonly used in humans and nonhuman primates. Further research is required to develop more reliable and accurate tests for the diagnosis of tuberculosis in orang-utans.
A study of the serological prevalence of a number of viral infections in captive orangutans showed evidence of exposure to hepatitis B virus (42.6%), hepatitis A virus (34.9%), herpes simplex viruses (14.7%), simian D-type retroviruses (11.2%) and human T-lymphotrogic viruses (1.4%). There was no evidence of exposure to simian or human immunodeficiency viruses.
Molecular studies to determine the origin of the hepatitis B virus, showed the virus was not of human origin as has been generally assumed, but was an indigenous virus which also occurred naturally in wild populations. The virus was subsequently named Orangutan Hepadnavirus.
A molecular study using mitochondrial DNA was undertaken to determine whether there was significant genetic diversity between six isolated populations of wild orangutans within Borneo. It was concluded that there are at least four genetically distinct populations located in East Kalimantan, southwest Kalirnantdcentral Kalirnantan, northwest KalimantdSarawak, and Sabah.
The findings of this research are discussed in terms of the implications for management policies for reintroduction centres, as well as for the conservation of wild populations. They will also be of relevance to zoos and primate centres.