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Literatura académica sobre el tema "Genetisk genealogi"

Autor: Grafiati

Publicado: 3 de julio de 2021

Última modificación: 1 de febrero de 2022

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Artículos de revistas sobre el tema "Genetisk genealogi"

Uyenoyama, Marcy K. "Genealogical Structure Among Alleles Regulating Self-Incompatibility in Natural Populations of Flowering Plants". Genetics 147, n.º 3 (1 de noviembre de 1997): 1389–400. http://dx.doi.org/10.1093/genetics/147.3.1389.

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A method is proposed for characterizing the structure of genealogies among alleles that regulate self-incompatibility in flowering plants. Expected distributions of ratios of divergence times among alleles, scaled by functions of allele number, were generated by numerical simulation. These distributions appeared relatively insensitive to the particular parameter values assigned in the simulations over a fourfold range in effective population size and a 100-fold range in mutation rate. Generalized least-squares estimates of the scaled indices were obtained from genealogies reconstructed from nucleotide sequences of self-incompatibility alleles from natural populations of two solanaceous species. Comparison of the observed indices to the expected distributions generated by numerical simulation indicated that the allelic genealogy of one species appeared consistent with the symmetric balancing selection generated by self-incompatibility. However, the allelic genealogy of the second species showed unusually long terminal branches, suggesting the operation of additional evolutionary processes.

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Schierup, Mikkel H., Anders M. Mikkelsen y Jotun Hein. "Recombination, Balancing Selection and Phylogenies in MHC and Self-Incompatibility Genes". Genetics 159, n.º 4 (1 de diciembre de 2001): 1833–44. http://dx.doi.org/10.1093/genetics/159.4.1833.

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AbstractUsing a coalescent model of multiallelic balancing selection with recombination, the genealogical process as a function of recombinational distance from a site under selection is investigated. We find that the shape of the phylogenetic tree is independent of the distance to the site under selection. Only the timescale changes from the value predicted by Takahata's allelic genealogy at the site under selection, converging with increasing recombination to the timescale of the neutral coalescent. However, if nucleotide sequences are simulated over a recombining region containing a site under balancing selection, a phylogenetic tree constructed while ignoring such recombination is strongly affected. This is true even for small rates of recombination. Published studies of multiallelic balancing selection, i.e., the major histocompatibility complex (MHC) of vertebrates, gametophytic and sporophytic self-incompatibility of plants, and incompatibility of fungi, all observe allelic genealogies with unexpected shapes. We conclude that small absolute levels of recombination are compatible with these observed distortions of the shape of the allelic genealogy, suggesting a possible cause of these observations. Furthermore, we illustrate that the variance in the coalescent with recombination process makes it difficult to locate sites under selection and to estimate the selection coefficient from levels of variability.

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Schierup, Mikkel H., Xavier Vekemans y Freddy B. Christiansen. "Allelic Genealogies in Sporophytic Self-Incompatibility Systems in Plants". Genetics 150, n.º 3 (1 de noviembre de 1998): 1187–98. http://dx.doi.org/10.1093/genetics/150.3.1187.

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Abstract Expectations for the time scale and structure of allelic genealogies in finite populations are formed under three models of sporophytic self-incompatibility. The models differ in the dominance interactions among the alleles that determine the self-incompatibility phenotype: In the SSIcod model, alleles act codominantly in both pollen and style, in the SSIdom model, alleles form a dominance hierarchy, and in SSIdomcod, alleles are codominant in the style and show a dominance hierarchy in the pollen. Coalescence times of alleles rarely differ more than threefold from those under gametophytic self-incompatibility, and transspecific polymorphism is therefore expected to be equally common. The previously reported directional turnover process of alleles in the SSIdomcod model results in coalescence times lower and substitution rates higher than those in the other models. The SSIdom model assumes strong asymmetries in allelic action, and the most recessive extant allele is likely to be the most recent common ancestor. Despite these asymmetries, the expected shape of the allele genealogies does not deviate markedly from the shape of a neutral gene genealogy. The application of the results to sequence surveys of alleles, including interspecific comparisons, is discussed.

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EVANS, DONALD. "WHAKAPAPA, GENEALOGY AND GENETICS". Bioethics 26, n.º 4 (7 de diciembre de 2010): 182–90. http://dx.doi.org/10.1111/j.1467-8519.2010.01850.x.

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Slatkin, Montgomery. "Gene Genealogies Within Mutant Allelic Classes". Genetics 143, n.º 1 (1 de mayo de 1996): 579–87. http://dx.doi.org/10.1093/genetics/143.1.579.

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Abstract A coalescent theory of the gene genealogy within an allelic class that arises by a unique mutational event is developed and analyzed. To interpret this theory it was necessary to expand on existing theory for populations of varying size. Two features of the gene genealogy—the average pairwise distance and the total tree length—within the mutant class and within the nonmutant class are found. An index, I, is proposed that describes the extent to which a genealogy is similar to one from a population of constant size (for which I = 0) or to a star genealogy (for which I = 1). The value of I is positive in growing populations and is generally positive for the gene genealogy for the mutant class. The value of lis negative for a population decreasing in size and for the nonmutant class, if the mutant arose recently. The results are discussed in the context of the infinite sites model of mutation, which is appropriate for nucleotide sequence data, and the generalized stepwise mutation model, which is appropriate for microsatellite loci. The same genealogical methods are used to find the probability of at least one recombination event between a nucleotide that defines an allelic class and a marker at a nearby linked site.

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Neuhauser, Claudia y Stephen M. Krone. "The Genealogy of Samples in Models With Selection". Genetics 145, n.º 2 (1 de febrero de 1997): 519–34. http://dx.doi.org/10.1093/genetics/145.2.519.

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We introduce the genealogy of a random sample of genes taken from a large haploid population that evolves according to random reproduction with selection and mutation. Without selection, the genealogy is described by Kingman's well-known coalescent process. In the selective case, the genealogy of the sample is embedded in a graph with a coalescing and branching structure. We describe this graph, called the ancestral selection graph, and point out differences and similarities with Kingman's coalescent. We present simulations for a two-allele model with symmetric mutation in which one of the alleles has a selective advantage over the other. We find that when the allele frequencies in the population are already in equilibrium, then the genealogy does not differ much from the neutral case. This is supported by rigorous results. Furthermore, we describe the ancestral selection graph for other selective models with finitely many selection classes, such as the K-allele models, infinitely-many-alleles models, DNA sequence models, and infinitely-many-sites models, and briefly discuss the diploid case.

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Velasco Martín, Marta. "Women and Partnership Genealogies in Drosophila Population Genetics". Perspectives on Science 28, n.º 2 (abril de 2020): 277–317. http://dx.doi.org/10.1162/posc_a_00341.

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Drosophila flies began to be used in the study of species evolution during the late 1930s. The geneticists Natasha Sivertzeva-Dobzhansky and Elizabeth Reed pioneered this work in the United States, and María Monclús conducted similar studies in Spain. The research they carried out with their husbands enabled Drosophila population genetics to take off and reveals a genealogy of women geneticists grounded in mutual inspiration. Their work also shows that women were present in population genetics from the beginning, although their contributions have previously remained unacknowledged. The similarities between their research biographies also illustrate their position in a genealogy of partnerships working on Drosophila genetics.

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Johnston, Josephine y Mark Thomas. "Summary: The Science of Genealogy by Genetics". Developing World Bioethics 3, n.º 2 (diciembre de 2003): 103–8. http://dx.doi.org/10.1046/j.1471-8731.2003.00064.x.

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Tyler, Katharine. "Ethnographic Approaches to Race, Genetics and Genealogy". Sociology Compass 2, n.º 6 (noviembre de 2008): 1860–77. http://dx.doi.org/10.1111/j.1751-9020.2008.00168.x.

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Zhang, Kangyu y Noah A. Rosenberg. "On the Genealogy of a Duplicated Microsatellite". Genetics 177, n.º 4 (18 de octubre de 2007): 2109–22. http://dx.doi.org/10.1534/genetics.106.063131.

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Tesis sobre el tema "Genetisk genealogi"

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.
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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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Más fuentes

Libros sobre el tema "Genetisk genealogi"

H, Schierup Mikkel y Wiuf Carsten, eds. Gene genealogies, variation and evolution: A primer in coalescent theory. Oxford: Oxford University Press, 2005.

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Pomery, Chris. DNA and family history: How genetic testing can advance your genealogical research. Toronto: Dundurn Group, 2004.

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DNA: Window to the past. Edina, Minn: ABDO Pub. Co., 2011.

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Berry, Brian Joe Lobley. Berry redux: Genetics, genealogy and ancient history. [United States]: Brian J.L. Berry, 2010.

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Smolenyak, Megan. Trace your roots with DNA: Using genetic tests to explore your family tree. [Emmaus, Pa.]: Rodale, 2004.

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Smolenyak, Megan. Trace your roots with DNA: Using genetic tests to explore your family tree. [Emmaus, Pa.]: Rodale, 2004.

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Dowell, David R. NextGen genealogy: The DNA connection. Santa Barbara, California: LIBRARIES UNLIMITED, an imprint of ABC-CLIO, LLC, 2015.

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Gormley, Myra Vanderpool. Family diseases: Are you at risk? Baltimore, MD: Genealogical Pub. Co., 1989.

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Morant, Guillaume de. Retrouver ses ancêtres par l'ADN. Paris: Autrement, 2009.

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Morant, Guillaume de. Retrouver ses ancêtres par l'ADN. Paris: Autrement, 2009.

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Capítulos de libros sobre el tema "Genetisk genealogi"

Cannings, C. y A. Thomas. "Inference, Simulation and Enumeration of Genealogies". En Handbook of Statistical Genetics, 781–807. Chichester, UK: John Wiley & Sons, Ltd, 2008. http://dx.doi.org/10.1002/9780470061619.ch23.

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Kuhner, Mary K., Jon Yamato y Joseph Felsenstein. "Applications of Metropolis-Hastings Genealogy Sampling". En Progress in Population Genetics and Human Evolution, 183–92. New York, NY: Springer New York, 1997. http://dx.doi.org/10.1007/978-1-4757-2609-1_11.

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Wozniak, Thomas. "Zum Stand der Genealogie und Genetik in den Geschichtswissenschaften". En Archiv für Diplomatik, Schriftgeschichte, Siegel- und Wappenkunde, 295–330. Köln: Böhlau Verlag, 2021. http://dx.doi.org/10.7788/9783412520571.295.

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Golding, G. Brian. "The Effect of Purifying Selection on Genealogies". En Progress in Population Genetics and Human Evolution, 271–85. New York, NY: Springer New York, 1997. http://dx.doi.org/10.1007/978-1-4757-2609-1_17.

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Beerli, Peter, Nicholas C. Grassly, Mary K. Kuhner, £David Nickle, Oliver Pybus, Matthew Rain, Andrew Rambaut, Alien G. Rodrigo y Yang Wang. "Population Genetics of HIV: Parameter Estimation Using Genealogy-based Methods". En Computational and Evolutionary Analysis of HIV Molecular Sequences, 217–52. Boston, MA: Springer US, 2002. http://dx.doi.org/10.1007/0-306-46900-6_10.

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Burlacu, Bogdan, Michael Affenzeller, Stephan Winkler, Michael Kommenda y Gabriel Kronberger. "Methods for Genealogy and Building Block Analysis in Genetic Programming". En Studies in Computational Intelligence, 61–74. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-15720-7_5.

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Hamann, Paul. "Genealogies of Genetics: Historicising Contemporary Science in Simon Mawer’s Mendel’s Dwarf and A.S. Byatt’s A Whistling Woman". En Representations of Science in Twenty-First-Century Fiction, 113–31. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-19490-1_7.

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McHughen, Alan. "Genetic Genealogy". En DNA Demystified, 231–60. Oxford University Press, 2020. http://dx.doi.org/10.1093/oso/9780190092962.003.0010.

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We discussed genealogy DNA tests in Chapter 8. Here we focus on some practical matters to aid your engagement with genetic genealogy. We’ll survey which company you might choose for conducting your DNA test(s), explain how to interpret your results, and answer some common questions posed by genetic genealogy beginners (and even by some more advanced practitioners, too). Before seeking a company, identify what you hope to achieve. Different companies offer different types of tests, which reveal different genetic features and answer different questions, so knowing what you want to get from a DNA test will then allow you to choose from a list of companies offering that feature. Once you have a short list of suitable companies, you can choose based on practical criteria—price, convenience, appeal of website and presentation of data, privacy policy, and other factors. When you receive the results, you may want some help in interpreting the data and in identifying “matches,” your close and distant DNA relatives. We’ll also discuss a recommended free site, Gedmatch, and offer help for adoptees and others lacking known biological connections. In the latter half of the chapter we’ll explain some of the arcane terminology and address some common misconceptions encountered in the genetic genealogy community.

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"GENETIC GENEALOGY". En The Genealogical Sublime, 119–43. University of Massachusetts Press, 2020. http://dx.doi.org/10.2307/j.ctvxkn6xk.9.

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Queloz, Matthieu. "A Genetic History of Thought". En The Practical Origins of Ideas, 100–131. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780198868705.003.0005.

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This chapter moves into the nineteenth century and brings Friedrich Nietzsche into the fold of the pragmatic genealogical tradition. It is argued that in his Basel years, Nietzsche sketches primarily fictional and vindicatory genealogies of justice and truthfulness which bring him closer to the ‘English’ genealogists than he later cared to admit. Nietzsche’s significance for pragmatic genealogy is shown to be threefold: he diagnoses philosophers’ tendencies to dehistoricize and denaturalize their objects, and envisages, as a remedy for these failings, a systematic application of genealogy across our conceptual practices; he views concepts as growing out of needs, but, under the influence of Darwinism and historicism, he indexes needs to socio-historical perspectives and invites genealogists to think more historically; and he highlights that what has a point under some circumstances might become pointless or dysfunctional once it takes more demanding forms or comes to be applied beyond those circumstances.

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Actas de conferencias sobre el tema "Genetisk genealogi"

Hara, Akira, Takuya Mototsuka, Jun-ichi Kushida y Tetsuyuki Takahama. "Genetic Programming Using the Best Individuals of Genealogies for Maintaining Population Diversity". En 2015 IEEE International Conference on Systems, Man, and Cybernetics (SMC). IEEE, 2015. http://dx.doi.org/10.1109/smc.2015.470.

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Ney, Peter, Luis Ceze y Tadayoshi Kohno. "Genotype Extraction and False Relative Attacks: Security Risks to Third-Party Genetic Genealogy Services Beyond Identity Inference". En Network and Distributed System Security Symposium. Reston, VA: Internet Society, 2020. http://dx.doi.org/10.14722/ndss.2020.23049.

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Carbone, Michele, Erin G. Flores, Mitsuru Emi, Giovanni Gaudino, Sandra Pastorino, Haining Yang, Todd Johnson, Tatsuhiko Tsunoda, Mary Hesdorffer y Harvey I. Pass. "Abstract 1179: Combined genetic and genealogic studies uncover a large BAP1 cancer syndrome kindred, tracing back nine generations to a common ancestor from the 1700s". En Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-1179.

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