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Leppäkoski, Julia. "Forensisk genetisk genealogi : En etisk diskussion av polisens samarbete med genetisk släktforskning för att lösa ouppklarade fall". Thesis, Södertörns högskola, Arkivvetenskap, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:sh:diva-45673.
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During the past couple of years, genetic genealogy has been used as an instrument for law enforcement to identify and catch criminals of unsolved cases. The method has created an ethical discussion concerning individual integrity and the potential risks an implementation of a method like this could cause. The purpose of this essay is to examine this method from an ethical perspective and discuss aspects like personal integrity, legislation and in what way people who send in their DNA to genealogy companies can affect their genetic data. Five different DNA testing genealogy companies have been selected to study and discuss in this essay. By examining their terms of conditions and privacy policies, the study will investigate how these companies act regarding the potential use from law enforcement of their DNA-databases to solve crimes. Parts of the current ethical debate regarding the method will also be presented and discussed to show potential advantages and disadvantages using a method like this could lead to. The results from the study show that forensic genetic genealogy could have both its advantages and disadvantages. Using the method has shown to be successful in capturing perpetrators behind unsolved crimes but it has also led to innocent people getting involved into criminal investigations. There are multiple ethical aspects concerning the method and the results show that there is a lack of research about the method and these aspects. There is also a lack of legislation or other forms of regulations regarding the method. The conclusion that therefore has been made is that there needs to be more research made about the ethical aspects of the method and that there needs to be more regulations to avoid the disadvantages using the method potentially could bring.
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Petersson, Rebecka y Cecilia Persson. "Blodspår i arkiven : Om integritet, personuppgifter och DNA-släktforskning i brottsutredningar". Thesis, Uppsala universitet, Institutionen för ABM, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-448093.
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In 2004 there was a double homicide in a Swedish town called Linköping, a small amount of DNA was found at the scene. Despite a largescale investigation, this murder would go unsolved for 16 years. In 2020 a Swedish genealogist was hired by the Swedish police and through an American commercial DNA database he was able to find the man that had gone unfound for so long. This was made possible through a change of Swedish laws in connection with the European Union’s Data Protection Regulation (GDPR), a regulation that protect the integrity of the personal data of Europeans. We have investigated how the evolution of these two legal frameworks coincides with each other, making this rather paradoxical situation possible. We have also investigated how this rather invasive technology is viewed by Swedish genealogists. These websites with their immense databases, and the technological developments in DNA technology, have changed genealogy. But they have also changed the genealogist, the foremost user of the archives today. We wanted to find out how.The investigation was conducted on three analytical levels: the legal/political, the medial and the individual level. On the legal/political level the material consists of legal texts, transcribed protocols from the Swedish Riksdag, but also two different reports on the legal status of using genetic genealogy as a method of criminal investigation. On the medial level the material consists of commercials for genealogy databases, documentaries and talk shows concerning the investigation of the murder in Linköping. On the individual level the material consists of surveys and interviews with genealogists. Follow us as we alongside police and genetic genealogists follow the bloodlines running through the archives. This is a two years master's thesis in Archival science.
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Herbots, Hilde Maria Jozefa Dominiek. "Stochastic models in population genetics : genealogy and genetic differentiation in structured populations". Thesis, Queen Mary, University of London, 1994. http://qmro.qmul.ac.uk/xmlui/handle/123456789/1482.
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The theory of probability and stochastic processes is applied to a current issue in population genetics, namely that of genealogy and genetic differentiation in subdivided populations. It is proved that under a reasonable model for reproduction and migration, the ancestral process of a sample from a subdivided population converges weakly, as the subpopulation sizes tend to infinity, to a continuous-time Markov chain called the "structured coalescent". The moment-generating function, the mean and the cond moment of the time since the most recent common ancestor (called the "coalescence time") of a pair of genes are calculated explicitly for a range of models of population structure. The value of Wright's coefficient FST, which serves as a measure of the subpopulation differentiation and which can be related to the coalescence times of pairs of genes sampled within or among subpopulations, is calculated explicitly for various models of population structure. It is shown that the dependence of FST on the mutation rate may be more marked than is generally believed, particularly when gene flow is restricted to an essentially one-dimensional habitat with a large number of subpopulations. Several more general results about genealogy and subpopulation differentiation are proved. Simple relationships are found between moments of within and between population coalescence times. Weighting each subpopulation by its relative size, the asymptotic behaviour of FST at large mutation rates is independent of the details of population structure. Two sets of symmetry conditions on the population structure are found for which the mean coalescence time of a pair of genes from a single subpopulation is independent of the migration rate and equal to that of two individuals from a panmictic population of the same total size. Under graph-theoretic conditions on the population structure, there is a uniform relationship between the FST value of a pair of neighbouring subpopulations, in the limit of zero mutation rate, and the migration rate
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Svensson, Kerstin. "Genetic genealogy and epidemiology of Francisella". Doctoral thesis, Umeå universitet, Infektionssjukdomar, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22452.
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This thesis is about analyzing genetic differences among isolates of Francisella tularensis – the tularemia-causing bacterium. To elucidate how these bacterial isolates are related, and their geographical and genetic origins, I have developed typing assays for Francisella and used them to study the epidemiology of tularemia. Tularemia is an infectious disease of humans and other mammals found throughout the Northern Hemisphere. The severity of the disease depends on the type of F. tularensis causing the infection. In Sweden, as in other countries of Europe and Eurasia, tularemia is caused by F. tularensis subsp. holarctica, while other varieties of the bacterium occur in Middle Asia and North America. It is important to identify a tularemia infection promptly in order to initiate the correct antibiotic treatment. A rapid identification of the causative F. tularensis variety gives additional clinical information. In recent years, several genomes of various Francisella strains have been sequenced, and in this thesis, I have utilized these genomes to identify genetic markers. In studies reported in the first paper (I) appended to the thesis, we identified and analyzed insertion/deletion mutations (INDELs) inferred to have resulted from a sequence repeat-mediated excision mechanism. We found eight new Regions of Difference (RDs) among Francisella strains. Using RDs together with single nucleotide polymorphisms (SNPs), we were able to predict an evolutionary scenario for F. tularensis in which Francisella novicida was the oldest variety while F. tularensis subsp. holarctica was the youngest. We also found that all virulence-attenuated isolates analyzed had deletions at two specific genetic regions - denoted RD18 and RD19 – suggesting that repeat-mediated excision is a mechanism of attenuation in F. tularensis. In subsequent studies (presented in paper II), we developed a combined analysis of INDELs lacking flanking repeats and variable number of tandem repeats (VNTRs). Both markers could be assayed using the same analytical equipment. The inclusion of INDELs provided increased phylogenetic robustness compared with the use of VNTRs alone, while still maintaining a high level of genetic resolution. In analyses described in the next paper (III), we selected INDELs from paper (II) and discovered novel SNPs by DNA comparisons of multiple Francisella strains. Thirty-four phylogenetically informative genetic markers were included in a hierarchical real-time PCR array for rapid and robust characterization of Francisella. We successfully used the assay to genotype 14 F. tularensis isolates from tularemia patients and DNA in six clinical ulcer specimens. Finally, in paper (IV) we demonstrated a strategy to enhance epidemiological investigations of tularemia by combining GIS-mapping of disease-transmission place collected from patient interviews, with high-resolution genotyping of F. tularensis subsp. holarctica isolates recovered from tularemia patients. We found the geographic distributions of specific F. tularensis subsp. holarctica sub-populations to be highly localized during outbreaks (infections by some genotypes being restricted to areas as small as 2 km2), indicative of a landscape epidemiology of tularemia with distinct point sources of infection. In conclusion, the results acquired during the studies underlying this thesis contribute to our understanding of the genetic genealogy of tularemia at both global and local outbreak scales.
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Sheehan, Nuala A. "Genetic restoration on complex pedigrees /". Thesis, Connect to this title online; UW restricted, 1990. http://hdl.handle.net/1773/8946.
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Jiang, Hongyu. "Population genetics genealogies under selection". Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:141f4e19-d13a-409e-a7c7-aeaabd6b9b88.
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In the presence of selection and mutation, the genealogy of a given sample configuration can be described by two classes of ancestral processes, namely the coalescent-in-a-random-background model of Kaplan et al. (1988) and the dual process with typed lines of Etheridge and Griffiths (2009). These two processes are based on the same forwards population genetics model. However, in the former model, selection is reflected in the ancestral frequencies in the population, while in the latter model, there are branching events that generate virtual ancestral lines. We simulate the dual processes with typed lines and derive the limits of the two ancestral processes under strong selection and under selection-mutation balance to address the question of to what extent the genealogy is distorted. The two ancestral processes generate the same limiting genealogy. In a two-allele population under strong selection, the disfavoured individuals in the sample are instantaneously converted to a random number of favoured individuals, and the limiting genealogy is governed by the usual Kingman’s coalescent. Under selection-mutation balance, all disfavoured individuals in the sample are instantaneously converted to the favoured type, and the limiting genealogy is determined by a time-changed Kingman’s coalescent. The proofs of these limiting processes are based on the convergence result of Mohle (1998, Lemma 1). The studies of selection-mutation balance are then extended to an additive selection model, where each individual is composed of L diallelic loci. In the corresponding dual process with typed lines, the evolution of the virtual lines on a faster timescale can be approximated by a deterministic process, while the evolution of the real lines is independent of the virtual lines. The structure in the limiting genealogy collapses to Kingman’s coalescent. We also let L tend to infinity, and obtain a full description of the limiting genealogy in the background selection model.
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Childerhose, Janet Elizabeth. "Genetic discrimination: genealogy of an American problem". Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=86665.
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Genetic discrimination has been transformed from an isolated concern of a handful of professionals into a pressing civil rights and public policy problem in the United States over the last twenty years. My dissertation is a genealogical account of how genetic discrimination has been shaped into a problem of this stature. It answers two questions: Where did the problem come from? How has the problem changed over time?In Part One, I trace the history of concerns about discrimination from the 1970s to the present. Drawing from oral histories with key actors and organizations that shaped early public understanding of the problem, I show that concerns about genetic discrimination originated in diverse practices. These practices include workplace genetic screening, insurer discrimination against individuals with AIDS, the rapid commercialization of genetic tests in the 1980s, and health care reform.
In Part Two, I present findings from a three-year ethnographic study of public policy hearings on genomic medicine in the United States that illustrate how new actors have been defining the problem of genetic discrimination since 1995. The hearings of the Secretary's Advisory Committee on Genetics, Health and Society were a site where participants legitimized genetic discrimination as a civil rights problem and developed lobbying tools to persuade Congress to pass federal nondiscrimination legislation. Participants framed fear of discrimination as a barrier to the nation's scientific progress and a significant threat to the lives of Americans.
I use the construct of genomic citizenship to draw out claims about the rights and duties of Americans in contemporary discourse on genetic discrimination. Passing federal nondiscrimination legislation is one way in which the civil rights of Americans appear to be expanding, while their responsibilities to act genetically are increasing. Advocates of nondiscrimination legislation, who use the language of genetic defect to argue that everyone is vulnerable to discrimination, geneticize all Americans by enrolling them into the biosociality of the flawed, transparent genome, with attendant duties. What these advocates do not also champion is the right of Americans to refuse to think or act genetically.
La discrimination génétique est passée du statut de préoccupation isolée parmi un petit nombre de professionnels à celui d'un urgent problème de droits civils et de politique publique aux État-Unis, depuis les vingt dernières années. Ma thèse est un compte rendu généalogique de la transformation de la discrimination génétique en un problème d'une telle envergure. Elle répond à deux questions : Quelle est l'origine du problème? Comment le problème a-t-il changé avec les années?
Dans la première partie, je retrace l'histoire des préoccupations au sujet de la discrimination, des années 70 à aujourd'hui. Je puise dans la tradition orale chez des acteurs clés et des organismes de premier plan qui ont informé la compréhension initiale du problème par le public. Je montre comment les préoccupations entourant la discrimination génétique sont issues de différentes pratiques.
Dans la deuxième partie, je présente les résultats d'une étude ethnographique d'une durée de trois ans, traitant des audiences publiques sur la médecine génomique aux États-Unis, et illustrant comment de nouveaux acteurs ont défini le problème de la discrimination génétique depuis 1995. Dans le cadre des audiences du Secretary's Advisory Committee on Genetics, Health and Society, les participants ont identifié la peur de la discrimination comme un obstacle au progrès scientifique de la nation, de même qu'une menace significative pour la vie des Américains et des Américaines.
J'ai recours à la construction de citoyenneté génomique dans le but de dégager des revendications au sujet des droits et devoirs des Américains et des Américaines, en rapport avec le discours actuel sur la discrimination génétique. L'adoption d'une législation de non discrimination semble contribuer à l'élargissement des droits civils des Américains et des Américaines, tandis que s'accroît leur responsabilité d'agir sur le plan génétique. Les défenseurs de la législation de non discrimination emploient le langage des défaut génétiques pour soutenir que toute la population est sujette à la discrimination. Selon ces mêmes défenseurs, les Américains et Américaines n'ont pas le droit de refuser de penser ou d'agir en termes génétiques.
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Panneerselvam, Madhumalar. "Pedigree tool /". Online version of thesis, 2008. http://hdl.handle.net/1850/11185.
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Nicolaisen, Lauren Elisabeth. "Distortions in Genealogies due to Purifying Selection". Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11357.
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As deleterious variants continually arise in a population, they tend to be purged via purifying selection, leading to distortions in the shapes of genealogies relative to neutral expectations. In recent years, a mounting body of evidence has arisen suggesting that this can have significant implications for the patterns of diversity seen in natural populations. However, existing theory has not yet fully characterized the effects of these distortions on the structure of genealogies. The focus of this thesis is on exploring this gap, and developing an analytical description of the distortions that arise in genealogies due to purifying selection.Physics
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Wyeth, Emma Hana y n/a. "Hauhaketia to wahia i mua i te takurua : Maori and genetic health research : a case study". University of Otago. Department of Biochemistry, 2008. http://adt.otago.ac.nz./public/adt-NZDU20080319.114119.
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This project was carried out under a broad theme of Maori health and investigates the genetics of rheumatoid arthritis (RA) and gout within two Maori case-control cohorts. In addition, it reports on the developmental stages of a whanau project focussing on the compilation of our whakapapa and collation of information relating to type 2 diabetes within the Parata whanau, which I whakapapa to. My conducting this research in light of me being Maori is also considered: much of the prevailing literature on Maori and science describes science as the handmaid of colonisation, and singles out genetic research as being "neo-colonial". I reject those that would label me a "sell-out" and show how my research is shaped by, and consistent with, the history of my immediate tipuna, and my iwi more generally, since European contact.
RA is an autoimmune disease of the joints and affects approximately 1% of the general population. There is currently very little data available on its prevalence in New Zealand although it is thought that it is similar to those of the rest of the world. Gout is the most common form of inflammatory arthritis in Caucasian males and recent data suggests a worldwide increase in prevalence in many populations. Gout is characterised by the deposition of monosodium urate or uric acid crystals in the joints, which produces an inflammatory response. In New Zealand, the prevalence of gout is estimated to be 3% in Caucasians and twice this in Maori. Both RA and gout are complex arthritic diseases and are influenced by a combination of genetic and environmental factors. It is likely that numerous genetic susceptibility loci are responsible for the genetic components of these diseases.
This project tests various genetic regions for susceptibility to or protection against both RA and gout in two separate Maori case cohorts and a common control cohort. To do this, the confounding factor of population stratification, resulting from population admixture, was overcome via developing a method specific for these Maori cohorts. This tool utilised genotype data from a set of unlinked genome-wide markers and the structure and STRAT software packages, allowing valid case-control studies to be carried out in the presence of population stratification. These data showed that four sub-populations exist in the Maori RA case-control cohort and three in the Maori gout case-control cohort.
A number of studies have confirmed the HLA region as the major genetic determinant of autoimmunity and recently, PTPN22 and CTLA-4 variants have been shown to be common to the onset of a number of autoimmune phenotypes. The IDDM6 region on chromosome 18 has also been implicated in type 1 diabetes, RA and autoimmune thyroiditis and contains a number of candidate genes for a role in RA, many of which were investigated in this thesis. Polymorphisms within the PTPN22, CTLA-4, BCL2, SMAD4, DCC, TNFRSF11A, PADI4, CCR5 and CCL3L1 genes were tested for association with RA in the Maori cohort (98 cases and 109 controls) with some significant association results obtained. The HLA-DRB1*02 and HLA-DRB1*08 loci were associated with the protection against and susceptibility for RA, respectively (P = 0.004 and 0.017). The deviation of CCL3L1 copy-number from the cohort mean (two copies) was also associated with the RA development. Copy-number <2 indicated association with protection against RA (P = 0.012) and copy-number >2 indicated association with susceptibility to RA (P = 0.002). However, it must be stressed that these results were obtained without accounting for the presence of population stratification.
The organic anion transporter (OAT) and the urate transporter 1 (URAT1) genes, involved in the regulation of blood urate levels, are members of the solute carrier transporter (SLC) family and provide good candidates for a role in gout. A number of polymorphisms within the OAT, URAT1 and the SLC5A8 genes were tested for association with gout in the Maori cohort (72 cases and 109 controls) with some success. The SLC5A8 rs1709189 SNP was significantly associated with gout in this cohort (P = 0.004). Polymorphisms within two alcohol dehydrogenase (ADH) genes were also tested for association due to their role in alcohol metabolism and the association between alcohol consumption and gout. The ADH2 rs1229984 SNP was also significantly associated with gout in this cohort (P = 0.012). These significant results were obtained after population stratification was taken into account.
The data presented in this thesis confirm the presence of population stratification in the two Maori case-control cohorts and demonstrate some association of the HLA-DRB1 region and CCL3L1 with RA and the SLC5A8 and ADH2 genes with gout. An extensive whakapapa of our whanau has also been compiled and associated type 2 diabetes information collected. However, this is by no means a completed task and work will continue on this project under the guidance of the Parata whanau.
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Nukaga, Yoshio. "A genealogy of genealogical practices : the development and use of medical pedigrees in the case of Huntington's disease". Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=37800.
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The purpose of this dissertation is to examine the use, role and function of medical pedigrees as part of extended networks of genetic practices. Integral to my argument is a description of geneticisation (i.e., the redefinition of family problems as genetic in origin), grounded in a set of detailed case studies of the development and use of visual tools in genetic practices.In recent years, medical sociologists have tended to link geneticisation to medicalisation (i.e., the social control by doctors over patients accompanied by the translation of social problems into medical issues). I argue that the twin notions of geneticisation and medicalisation are problematic, insofar as they embody a simplistic and negative understanding of medical activities and they prevent a sociological inquiry into the technical content of genetic practices.
Medical pedigrees are visual tools used to translate family problems into visual inscriptions, in order to show the genetic nature of a given disease. The use of medical pedigrees in genetic counselling and research rests on a chain of genetic practices including the inscription of family trees, the standardisation of medical pedigrees, the combination of specialised forms of medical pedigrees with other diagnostic inscriptions, and the circulation of published pedigrees. The analysis is based on a genealogical approach, as built on a combination of historical and ethnographic methods. The genealogical approach was applied to the analysis of a long network of genetic practices centred on Huntington's disease. The analysis spans over 120 years and compares two different international settings (North America and Japan).
The thesis examines how lay support group members and family members collect family narratives, family inscriptions and family trees, which were first translated by genetic counsellors into various forms of medical pedigrees, and then circulated as educational material among lay and medical practitioners. On the basis of these case studies, the conclusion is reached that the notion of geneticisation should be understood as a specific process resulting from an emerging cooperative practice between medical practitioners and lay support group members, rather than as a process of medicalisation.
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Braun, Birgit [Verfasser]. "Perusinis II. Fall: Der Alzheimer Patient R. M. : Geschichte, Genealogie und Genetik eines psychiatriehistorischen Falls / Birgit Braun". Saarbrücken : Südwestdeutscher Verlag für Hochschulschriften, 2012. https://www.svh-verlag.de.
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Zhang, Qing. "The genealogy of Apple in China: towards a genetic phenomenological sociology of culture, media and technology". HKBU Institutional Repository, 2017. https://repository.hkbu.edu.hk/etd_oa/401.
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The state of cultural and social theories is not satisfactory though they seem to flourish in terms of quantity. Scholars successfully describe most of the cultural and social phenomena but propose wildly different, sometime even opposite, interpretations of these phenomena. This thesis offers genetic phenomenological sociology as an alternative interpretation that goes beyond structure oriented theories and construction (agency) oriented theories. It proposes to interpret cultural and social phenomena in the process of their emergence and transformation, and argues that this process or genealogy is the social ontology of culture and society. This thesis develops genetic phenomenological sociology through exploring the genetic side of phenomenology and social theories, and through examining the emergence and transformation of Apple in China. Genealogy is not only method and critique, but also social ontology. This is a main theoretical argument and objective of empirical analysis of the thesis. Theoretically, this thesis explores the genetic side of Husserlian phenomenology, phenomenological sociology as well as the genetic side of social theories. These theories fully develop genealogy as method and critique and imply genealogy as social ontology. But they do not fully develop the idea of genealogy as social ontology. This underdevelopment leads to theoretical problems of subject and normativity, such as Husserlian phenomenology and Foucault's theory. Genealogy, as social ontology, is a way out of the dichotomy of structure and construction, a way out of the philosophy of subject, and a solution to the problems of subject and normativity. This theoretical argument is further developed through theoretical investigation of meaning context, social ontology, genealogy, practice, encountering and embodiment from the perspective of genetic phenomenological sociology in the substantive chapters. Empirically, the genetic phenomenological sociology of Apple answers the question how Apple culture emerges and transforms in China. It examines Apple in genesis in China from the 1980s to 2015. First, the meaning context of this period can be largely described as a transformation of electronic culture from modernization in the 1980s to individualism and consumerism after 2000 through marketization. Second, Apple store exemplifies the social ontology and epistemology of genetic phenomenological sociology. Third, the genealogy of Apple advertisements, media practices and media ritualization concerning Steve Jobs and the cultural encountering of Apple in the meaning context of China's reform era illustrate how Apple culture emerges and transforms. Finally, the genetic phenomenological sociology of Apple technology further reveals the relation between people and thing, which is embodiment. This thesis develops genetic phenomenological sociology as an alternative approach in the study of culture, media and technology that goes beyond structure and construction oriented theories. The ontological root of genetic phenomenological sociology, which is the non-subject philosophy, needs to be further developed.
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Dionne, Carole. "La déficience en lipoprotéine lipase chez les canadiens français : étude spatiale, génétique et généalogique /". Thèse, Québec : Université Laval, École des gradués, 1991. http://theses.uqac.ca.
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Mémoire (M.Sc.)-- Université du Québec à Chicoutimi, 1991."Mémoire présenté pour l'obtention du grade de maître en sciences (M.Sc.)" Ce mémoire a été réalisé à l'UQAC dans le cadre du programme de maîtrise en médecine expérimentale (volet génétique) extensionné de l'Un. Laval à l'UQAC. CaQCU CaQCU Bibliogr.: f. 82-86. Document électronique également accessible en format PDF. CaQCU
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Cauvier, Katy. "Étude comparative des caractéristiques généalogiques et génétiques de quatre populations fondatrices de la Gaspésie /". Thèse, Chicoutimi : Ste-Foy : Université du Québec à Chicoutimi. Université Laval, 2006. http://theses.uqac.ca.
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Thèse (M.Med.Exp.) -- Université du Québec à Chicoutimi, programme en extension de l'Université Laval, 2006.La p. de t. porte en outre: Mémoire présenté à la Faculté des études supérieures de l'Université Laval comme exigence partielle du programme de maîtrise en médecine expérimentale offert à l'Université du Québec à Chicoutimi en vertu d'un protocole d'entente avec l'Université Laval pour l'obtention du grade de maître ès sciences (M.Sc.). CaQCU Bibliogr.: f. 120-125. Document électronique également accessible en format PDF. CaQCU
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Gomez, Guillermo Marcelo [UNESP]. "Abordagem genética e multivariada na performance agronômica de genótipos de soja oriundos de diferentes genealogias". Universidade Estadual Paulista (UNESP), 2014. http://hdl.handle.net/11449/110322.
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000794477.pdf: 939253 bytes, checksum: 0a2e35c225f548f5f46b35af3f42fd58 (MD5)Os objetivos do presente estudo foram: (i) avaliar as performances genotípicas de 45 genótipos de soja com a finalidade futura de recomendação de cultivares para o Estado de São Paulo, Brasil, (ii) determinar a estabilidade e a adaptabilidade dos 45 genótipos por meio dos métodos de ecovalência de Wricke, AMMI (efeitos principais aditivos e análise da interação multiplicativa), GGE-Biplot e MHPRVG (média harmônica da performance relativa do valore genotípico), (iii) avaliar as correlações fenotípicas, genotípicas e ambientais entre as características de 45 genótipos em três ambientes. A exploração da interação genótipo x ambiente (IGE) permitiu a identificação de 21 genótipos com altos rendimentos de grãos, de diferentes grupos de maturidade relativa e níveis de estabilidade para os ambientes. Esse grupo foi subdividido por ciclo de cultivo, genótipos de ciclos curtos (108 dias - 125 dias) 18, 36, 20, 34 e 33, genótipos de ciclos médios (126 dias - 135 dias) 11, 22, 44 (CD 219), 24, 23, 14, 32, 1, 12, 39, 30, 38, 7 e 26 e genótipos de ciclos tardios (≥ 136 dias) 25 e 37. Interpretações similares foram obtidas dos métodos de ecovalência, AMMI e GGE-Biplot. Enquanto que as interpretações obtidas da análise MHPRVG foram diferentes. Isso foi devido às propriedades do método, que da maior peso à produtividade de grãos e pouco peso aos estatísticos de adaptabilidade e estabilidade. A análise de correlações genéticas e ambientais entre as variáveis dos genótipos e ambientes avaliados reforçou as interpretações da exploração da interação genótipos x ambientes
The objectives of the present study were to: (i) evaluate the genotypic performances of 45 soybean genotypes with the future finality of recommendation of varieties for the State of São Paulo, Brazil; (ii) determine the stability and adaptability of the 45 genotypes utilizing the Wricke’s ecovalence, AMMI (additive main effects and multiplicative interaction analysis), GGE-Biplot and MHPRVG (harmonic mean of the relative performance of genotypic values) methods; (iii) evaluate the phenotypic, genotypic and environmental correlations among the traits of 45 genotypes in three environments. The exploration of genotype-byenvironment interaction (GEI) allowed the identification of 21 genotypes with high mean grain yield, representing different relative maturity groups and stability levels to the environments. This group was subdivided by crop cycle, in which the genotypes 18, 36, 20, 34 and 33 were early cycles (108 days – 125 days), while genotypes 11, 22, 44 (CD 219), 24, 23, 14, 32, 1, 12, 39, 30, 38, 7 and 26 were medium cycles (126 days – 135 days) and genotypes 25 and 37 were late cycles (≥ 136 days). The interpretations obtained from the ecovalence, AMMI and GGE-biplot methods were more similar than the interpretations obtained from the MHPRVG method. This was due to the method’s properties, which give more weight to grain yield and little weight to the adaptability and stability parameters. The genotypic and environmental correlations among traits enhanced the interpretations of the genotype x environmental interactions
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Tino, Camila Renata de Souza. "Estrutura populacional e análise de variabilidade genética em rebanhos ovinos brasileiros". Dracena, 2016. http://hdl.handle.net/11449/138932.
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Orientador: Ricardo da FonsecaResumo: As raças ovinas deslanadas são parte do patrimônio genético do Brasil, formado por animais adaptados ao semiárido nordestino e com potencial de produção de carne e pele. No entanto tratam-se de raças de recente formação, ainda com poucos programas de melhoramento genético, e consequentemente, carente de estudos da estrutura populacional, variabilidade genética, endogamia e grau de conservação. Diante disso este trabalho teve dois objetivos: 1) analisar a variabilidade genética da raça Santa Inês no Brasil com base em informações de pedigree utilizando registros de animais da raça Santa Inês, provenientes da Associação Sergipana de Criadores de Caprinos e Ovinos (ASCCO) criados na Região Nordeste do Brasil e 2) avaliar a estrutura genética e variabilidade genética do núcleo de conservação da Embrapa Caprinos e Ovinos, localizada na cidade de Sobral, região do norte do estado do Ceará, controlado pelo Sistema de Gerenciamento de rebanho (SGR) dentro do dentro do programa de melhoramento genético de caprinos e ovinos de corte – GENECOC®. O arquivo de pedigree da raça Santa Inês (ASCCO) continha 29080 animais e os arquivos de dados genealógicos pertencentes ao GENECOC 904 indivíduos da raça Santa Inês, 972 indivíduos da raça Somalis e 1372 indivíduos da raça Morada Nova. Para a primeira análise dos animais Santa Inês a média da integridade do pedigree nas últimas quatro gerações foi maior que 50% e o número de gerações completas equivalente foi igual a 4,89. O valor do coeficient... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: The wooless sheep breeds are part of the genetic heritage of Brazil, formed by animals highly adapted to semi-arid Northeast and high capacity of production of meat and skin. However it is of recent formation breeds, still few breeding programs, and consequently lacking in studies of population structure, genetic variability, inbreeding and degree of conservation. Therefore this study had two objectives: 1) to analyze the genetic variability of Santa Ines in Brazil based on pedigree information using animal records Santa Ines, from the Goat Breeders of Sergipana Association and Sheep (ASCCO) created in Northeast of Brazil and 2) evaluate the genetic structure and genetic variability conservation nucleus of Embrapa goats and sheep, located in Sobral, northern region of the state of Ceará, compiled by Management System for Livestock, part of the within the Breeding Program of Goats and sheep - GENECOC® . Santa Inês breed pedigree file (ASCCO) contained 29080 animals and genealogical data files belonging to GENECOC 904 individuals Santa Ines, 972 individuals of Somalis breed and 1372 individuals of Morada Nova breed. For the first analysis of animal Santa Inês the average pedigree integrity in the last four generations was greater than 50% and the number of full generations equivalent was equal to 4.89. The value of endogamic coefficient (F) was 0.32% and the obtained relationship coefficient was 3.1%. The generation interval was 5.75 years. For the results of the parameters bas... (Complete abstract click electronic access below)
Mestre
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Braun, Birgit [Verfasser] y Hans H. [Akademischer Betreuer] Klünemann. "Perusinis II. Fall: Der Alzheimer Patient R. M. - Geschichte, Genealogie und Genetik eines psychiatriehistorischen Falls / Birgit Braun. Betreuer: Hans H. Klünemann". Regensburg : Universitätsbibliothek Regensburg, 2012. http://d-nb.info/1023398850/34.
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Westerlin, Jens y Simon Olsson. "Strategier för en interkulturell historieundervisning". Thesis, Malmö universitet, Fakulteten för lärande och samhälle (LS), 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-28737.
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Ett av skolans uppdrag är att bedriva en interkulturell undervisning som främjar ett mångkulturellt klassrum och samhälle. Trots detta finns omfattande forskning som tyder på att ämnesinnehåll och läromedel har en eurocentrisk utgångspunkt. Vårt syfte är att finna strategier för hur historielärare kan genomföra en identitetsskapande interkulturell undervisning utifrån styrning och tillgängliga läromedel. Genom studien finner vi användbara strategier för att bedriva en undervisning som matchar skolans interkulturella uppdrag. Kvalitativa intervjuer med fyra historielärare i två olika högstadieskolor, i två olika kommuner, användes för att se hur det interkulturella uppdraget kunde genomföras i praktiken. Intervjuerna analyserades med hjälp av Johanssons teorier om interkulturell historisk kompetens och Johanssons modell om interkulturell undervisning med teorier från Dunn, Nordgren, LaSpina och Banks. Resultaten har analyserats utifrån den orienterande kompetensen i historiemedvetandet, kopplat till en genetisk eller genealogisk utgångspunkt för undervisningen. Resultatet visar att lärarna har en vilja att bedriva en interkulturell historieundervisning och studien finner flera möjliga strategier som utifrån de teoretiska ramverken klassas som interkulturella. Studien finner även att lärarna upplever svårigheter för detta, kopplat till deras tillgängliga läromedel, tid och centrala styrningar.
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Kumbier, Alana. "Ephemeral Material: Developing a Critical Archival Practice". Columbus, Ohio : Ohio State University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1236198205.
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Saadi, Habib. "Lambda-Fleming-Viot processes and their spatial extensions". Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:5e069206-e124-4b21-aec2-df7a69393038.
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The subject of this thesis is the study of certain stochastic models arising in Population Genetics. The study of biological evolution naturally motivates the construction and use of sometimes sophisticated mathematical models. We contribute to the study of the so-called Lambda models. Our work is divided into two parts. In Part I, we study non-spatial models, introduced in 1999. Although there is a very rich literature concerning the description of genetic diversity thanks to the genealogies arising in these models, we obtain new results by considering the dynamics of the full population. We also contribute by presenting the first Bayesian method that allows us to reconstruct the genealogies generated by these models from data. In Part II, we study a recent extension of these models to the spatial setting. In particular, we prove a non trivial result concerning the geographical dispersal of a new mutant under this model.
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Bilginer, Onur. "Control And Manipulation Of Life: A Critical Assessment Of Genetics Through The Perspectives Of Hans Jonas, Martin Heidegger And Michel Foucault". Master's thesis, METU, 2006. http://etd.lib.metu.edu.tr/upload/12607453/index.pdf.
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This study is on the political and ethical aspects of recent advances in genetics. Its aim is to explicate the scientific and technological premises of genetics along historical, philosophical and political axes by employing the critical perspectives of Jonas, Heidegger and Foucault. Starting the discussion from a brief account of scientific and technological revolutions initiated in the 16th and 17th centuries, I defend the thesis that the idea of control and manipulation of life is not a novelty introduced by genetics, but a historical orientation underlying modern man&rsquos metaphysical reasoning. That is to say, &lsquo
the idea of control and manipulation of life&rsquo
is not an unintended technological excess of genetic practices, and hence a transgression of our moral principles. Rather, this endeavour is a scientific and technological &lsquo
project&rsquo
which has been at the very core of modern man&rsquo
s rational political agenda. Therefore, any attempts to understand genetics from a naï
ve Baconian utilitarianism and optimism fails to grasp its complicated political nature. For the ethical concerns to become more comprehensive, three genetic cases (prenatal screening tests, cloning, and genetic engineering) are examined in the light of the philosophical reflections of Jonas and Heidegger. Besides, following Foucault&rsquo
s critical assessments of medicine and bio-power, a &lsquo
fourth spatialization of disease&rsquo
is proposed at the end of the study in order to evaluate the transformations with the introduction of genetics into medicine. Consequently, it is argued that geneticized medicine might sign a new regime of bio-power &ndash
a reconfiguration of knowledge, power and subjectivity.
23
Artz, Matthew. "An Ethnography of Direct-to-Consumer Genomics [DTCG]: Design Anthropology Insights for the Product Management of a Disruptive Innovation". Thesis, University of North Texas, 2018. https://digital.library.unt.edu/ark:/67531/metadc1248393/.
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Direct-to-consumer genomics (DTCG) health testing offers great promise to humanity, however to date adoption has lagged as a result of consumer awareness, understanding, and previous government regulations restricting DTCG companies from providing information on an individual's genetic predispositions. But in 2017 the broader DTCG market which also includes genealogical testing demonstrated exponential growth, implying that DTCG is starting to diffuse as an innovation. To better understand the sociocultural forces affecting diffusion, adoption, and satisfaction, qualitative ethnographic research was conducted with DTCG genealogy and health consumers. The data was qualitatively analyzed using thematic analysis to understand the similarities and differences in beliefs, attitudes, intentions, and mediating factors that have influenced consumers. Design anthropology theory and methods were used to produce ethnographically informed insights. The insights were then translated into actionable product management and business strategy recommendations.
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Hultkrantz, Catharina. "Playtime! : en studie av lärares syn på film som pedagogiskt hjälpmedel i historieämnet på gymnasiet". Licentiate thesis, Umeå universitet, Institutionen för idé- och samhällsstudier, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-94422.
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Showing movies to pupils is hardly a new, innovative teaching method. However, knowledge about how film is used and why, as well as what kind of film is used is scarce. In the present licentiate thesis, eight active teachers have been interviewed on their experiences with and approached to using film as a pedagogic tool in high school history lessons. The purpose of the study is to analyze the respective teachers´ use and understanding of history, based on their opinion of film as a didactic alternative. Why do teachers to use film in class? How do they describe the way in which they work with it in concrete teaching situations? What films do they use and what makes them suitable for classroom viewing? The teachers emphasize five primary ways in which they use movies as teaching tools and the advantages in doing so: to present facts; as an example of multiperspectivism; to promote ethics and empathy; to discuss source criticism; and to arouse interest. The teachers see documentary film as an accurate, reliable form of presenting facts while considering drama more complicated and important to address in class. The study shows that the teachers feel they are left to their own devices to discover film´s potential as creators of meaning but that they rarely have the educational background or time to engage colleagues in didactic reasoning on the subject. The type of films they consider as having the most favorable effect in the classroom generally deal with war and other conflicts from a Western perspective. Most see film as an effective secondary source but a few also see it as a useful primary source. Analyzing their statements as a whole, the informants articulate that while film is widely used in high school history classes, it is done so for very different reasons.
25
Lloyd-Jones, Glyn Francis Michael. "Britain after the Romans : an interdisciplinary approach to the possibilities of an Adventus Saxonum". Thesis, Rhodes University, 2015. http://hdl.handle.net/10962/d1019806.
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In the fifth century, after the departure of the Romans, according to tradition, which is based on the ancient written sources, Britain was invaded by the Angles and Saxons. This view has been questioned in the last century. The size of the ‘invasion’, and indeed its very existence, have come into doubt. However, this doubting school of thought does not seem to take into account all of the evidence. An interdisciplinary, nuanced approach has been taken in this thesis. Firstly, the question of Germanic raiding has been examined, with reference to the Saxon Shore defences. It is argued that these defences, in their geographical context, point to the likelihood of raiding. Then the written sources have been re-examined, as well as physical artefacts. In addition to geography, literature and archaeology (the disciplines which are most commonly used when the coming of the Angles and Saxons is investigated), linguistic and genetic data have been examined. The fields of linguistics and genetics, which have not often both been taken into consideration with previous approaches, add a number of valuable insights. This nuanced approach yields a picture of events that rules out the ‘traditional view’ in some ways, such as the idea that the Saxons exterminated the Britons altogether, but corroborates it in other ways. There was an invasion of a kind (of Angles – not Saxons), who came in comparatively small numbers, but found in Britain a society already mixed and comprising Celtic and Germanic-speaking peoples: a society implied by Caesar and Tacitus and corroborated by linguistic and genetic data.
26
Pellen, Nadine. "Hasard, coïncidence, prédestination… et s’il fallait plutôt regarder du côté de nos aïeux ? : analyse démographique et historique des réseaux généalogiques et des structures familiales des patients atteints de mucoviscidose en Bretagne". Versailles-St Quentin en Yvelines, 2012. http://www.theses.fr/2012VERS004S.
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La population à la base de l’étude est constituée de malades atteints de mucoviscidose, diagnostiqués au plan clinique et ayant vécu en Bretagne au cours de ces cinquante dernières années. Leurs ascendances, reconstruites avec le soutien des centres de généalogie, rassemblent plus de 250 000 apparentés. Les caractéristiques génétiques et généalogiques des patients étant ainsi connues, l’objectif de la thèse était de prendre appui sur cette base de données généalogiques afin d’examiner si les comportements démographiques du passé peuvent expliquer la fréquence et la répartition de la mucoviscidose observées aujourd’hui en Bretagne. Les porteurs partageant une mutation identique sont apparentés. Les lieux de vie de leurs ancêtres communs ont été cartographiés. Ils indiquent une répartition différentielle selon les mutations portées. Ces apparentements génétiques permettent de tracer le chemin emprunté par le gène pour arriver jusqu’à nous. Au niveau des ancêtres, l’examen des unions a révélé des âges au mariage précoces, notamment pour les femmes, des remariages fréquents, notamment pour les hommes, révélateurs de pratiques matrimoniales fécondes augmentant la probabilité de transmission génétique. De plus, la stabilité géographique constatée au moment des noces ne semble pas avoir favorisé la diversité génétique. De plus nous avons calculé qu’il existerait un avantage sélectif à être porteur sain en termes d’espérance de vie. La consanguinité, souvent évoquée pour expliquer la fréquence du nombre de malades atteints de mucoviscidose en Bretagne, n’a pas été un élément déterminant dans la présente étude. En effet, seulement 0,8 % des malades sont nés d’une union entre parents cousins ou petits-cousins. Au niveau des ancêtres, c’est à partir de la 7e génération que la proportion de paires d’individus apparentés augmente. Ainsi, plus que la consanguinité, c’est l’endogamie qui tend à perpétuer le degré d’homogénéité génétique. La présence d’un gène délétère associé à une forte fécondité, une population peu mobile au marché matrimonial restreint ainsi qu’un avantage sélectif des porteurs sains, permettent d’expliquer la fréquence et la répartition de la mucoviscidose à la pointe de la Bretagne aujourd’hui. Cette étude participe au développement de la connaissance historique, géographique et sociale de la maladie au travers de la succession des générations. Elle présente une approche collective de la mutation et non plus individuelle ; elle a aussi un effet de prospective en tant qu’outil pour le dépistage et les soignantsThe population at the root of this study is composed of patients clinically diagnosed as suffering from cystic fibrosis and having lived in Brittany some time in the course of the past fifty years. Their ancestry was traced back with the help of genealogy centres and brought together more than 250 000 kinspeople. The resulting data base, built up from these patients’ genetic and genealogical characteristics, was then used to study how the demographic patterns of the past could explain the frequency and geographical distribution of cystic fibrosis as it appears in today’s Brittany. The carriers who share the same CF mutation are kindreds. The mapping of their common ancestors’ living places shows a differential distribution, depending on specific CF mutations. These genetic relatednesses enable us to trace back the route followed by the CF gene. At the ancestors’ level, we observed marital unions at an early age, particularly for women, and frequent remarriage, particularly for men. As a consequence, married couples were prolific, thus allowing more genetic transmissions. And the geographical stability that prevailed at the time of the wedding does not seem to produce genetic diversity. Moreover, we reckoned that in terms of life expectancy there might be some selective advantage to being a healthy carrier. Inbreeding - a cause frequently referred to as an explanation for the large number of CF affected patients in Brittany - was in no way a key factor in this study. Only 0,8 % were born from first or second cousin unions. At the ancestors’ level, we must go back to the 7th generation to see a higher proportion of close kinship. Therefore, more often than consanguinity, endogamy tends to carry on a certain degree of genetic homogeneity. CF frequency of occurrence and its Breton distribution today can be accounted for by the presence of a harmful gene combined with high fertility, a relatively settled population with a limited availability of possible partners, and the selective advantage this harmful gene was for healthy carriers. This study helps to increase historical, geographical and social knowledge of CF throughout successive generations. Lt enables us to have a collective more than individual approach of the CF mutation. Lt also has t a prospective effect as a tool for the testing center and the staff
27
Pokorná, Ročňáková Lucie. "Genetická genealogie a komunity vzniklé okolo ní". Master's thesis, 2018. http://www.nusl.cz/ntk/nusl-384325.
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The aim of the thesis is to introduce genetic genealogy (the genealogical DNA test analyzes samples of genetic material for genealogy purposes, mostly does not serve as a tool for health diagnostics, or it does not detect genetic predisposition or disorder) and to analyze the online communities around it. The thesis answers the question of the extent to which these groups differ from groups of supporters of the traditional approach (whose main focus lies mainly in archival research). On the example of several specific communities, the author tries to show what aspects are dominant in this new kind of online activities and critically evaluate them.
28
ŠTEFKA, Jan. "Host specificity, genetic variability and genealogy in populations of model parasite species". Doctoral thesis, 2008. http://www.nusl.cz/ntk/nusl-49458.
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MARTINŮ, Jana. "Host specificity, genetic variability and genealogy in populations of model parasite species". Doctoral thesis, 2019. http://www.nusl.cz/ntk/nusl-403666.
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Parasites represent one of the most common ecological strategies and host-parasite coevolution belongs among the major processes governing evolution of biodiversity on the global scale. Genetic structure and diversity of populations of parasites and their hosts, and their genetic connectivity are the key elements in long-term population survival and evolution. Host switches often disturb the parallel evolution of interacting taxa, even in highly host-specific parasites. Evaluation of importance of the degree of intimacy between parasites and hosts is not a trivial task, because evolutionary patterns observed today were formed by an interplay of many (sometimes previously unforeseen) historical and ecological factors. To reveal the mechanisms of coevolution between parasites and their hosts, inter- and intra-specific genealogical structures in three model systems were analyzed: namely, the sucking lice Polyplax serrata and Apodemus hosts, chewing lice of the genus Menacanthus and endoparasitic coccidean genus Eimeria from Apodemus mice.
30
Heuer, Benjamin. "Convergence of the Genealogy of the Spatial Cannings Model". Doctoral thesis, 2016. http://hdl.handle.net/11858/00-1735-0000-002B-7CA9-7.
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Bhérer, Claude. "Ramifications génétiques et démographiques de l'effet fondateur québécois". Thèse, 2014. http://hdl.handle.net/1866/11846.
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Les événements fondateurs et les expansions territoriales peuvent promouvoir une cascade de changements génétiques et ont ainsi pu jouer un rôle important au cours de l’histoire évolutive de l’Homme moderne. Or, chez les populations humaines, les conséquences évolutives et la dynamique démographique des processus de colonisation demeurent largement méconnues et difficiles à étudier. Dans cette thèse, nous avons utilisé les généalogies de la population fondatrice canadienne-française ainsi que des données génomiques pour étudier ces questions. Les analyses génomiques et généalogiques, remarquablement concordantes, ont dévoilé un nouveau portrait détaillé de la structure de la population du Québec, incluant un continuum de diversité génétique dans l’axe ouest/est et des sous-populations significativement différenciées. L’analyse de l’immigration fondatrice a montré que virtuellement tous les Canadiens français sont métissés. Allant à l’encontre d’une prétendue homogénéité génétique de la population, nos résultats démontrent que le peuplement des régions a engendré une rapide différentiation génétique et expliquent certaines signatures régionales de l’effet fondateur. De plus, en suivant les changements évolutifs dans les généalogies, nous avons montré que les caractéristiques des peuplements fondateurs peuvent affecter les traits liés à la fécondité et au succès reproducteur. Cette thèse offre une meilleure compréhension du patrimoine génétique du Québec et apporte des éléments de réponse sur les conséquences évolutives des événements fondateurs.Founding events and range expansions can promote a cascade of genetic changes and may have played an important role in the evolutionary history of modern humans. Yet the evolutionary consequences and demographic dynamics of these colonization processes remain poorly documented and challenging to study in human populations. In this thesis, we used deep-rooted genealogies from the French Canadian founder population in addition to genomic data to address these questions. Genomic and genealogical analyses were remarkably concordant and revealed a new portrait of Quebec fine-scale population structure, including a continuum of genetic diversity in the west/east axis and sub-populations significantly differentiated. The analysis of the founding immigration showed that virtually all French Canadians are admixed. Contrary to the idea of homogeneity of the population, our results demonstrate that the regional settlement histories led to a rapid genetic differentiation and explain some regional signatures of the founder effect. By monitoring evolutionary changes in real genealogies, we show that founding events impact fertility traits and reproductive success. This thesis leads to a better understanding of the genetic heritage of Quebec and provides insights on how peopling of new territories shaped human evolution.