Dissertations / Theses: 'Human genetics'

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Ingman, Max. "Mitochondria and Human Evolution." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3580.

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Mitochondrial DNA (mtDNA) has been a potent tool in studies of the evolution of modern humans, human migrations and the dynamics of human populations over time. The popularity of this cytoplasmic genome has largely been due to its clonal inheritance (in Man) allowing the tracing of a direct genetic line. In addition, a comparatively high rate of nucleotide substitution facilitates phylogenetic resolution among relatively closely related individuals of the same species.

In this thesis, a statistically supported phylogeny based on complete mitochondrial genome sequences is presented which, for the first time, unambiguously places the root of modern human mitochondrial lineages in Africa in the last 200 thousand years. This conclusion provides strong support for the “recent African origin” hypothesis. Also, the complete genome data underline the problematic nature of traditional approaches to analyses of mitochondrial phylogenies.

The dispersal of anatomically modern humans from the African continent is examined through single nucleotide polymorphism (SNP) and sequence data. These data imply an expansion from Africa about 57 thousand years ago and a subsequent population dispersal into Asia. The dispersal coincides with a major population division that may be the result of multiple migratory routes to East Asia.

Also investigated is the question of a common origin for the indigenous peoples of Australia and New Guinea. Previous studies have been equivocal on this question with some presenting evidence for a common genetic origin and other proposing separate histories. Our data reveals an ancient genetic link between Australian Aborigines and the peoples of the New Guinea highlands.

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Whitmore, Scott Anthony. "Positional cloning of genes associated with human disease /." Title page, contents and summary only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phw616.pdf.

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Thesis (Ph.D.) -- University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1999.
Copies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.

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Dubé, Marie-Pierre. "New approaches in human genetic analysis." Thesis, McGill University, 1999. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36581.

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The present thesis covers two aspects of statistical analysis applied to the genetics of human diseases. First, the significance of LOD-score results for the confirmation of linkage is addressed, with special emphasis on small pedigrees. A new analytical approach is presented for the linkage analysis of heterogenetic traits, using hereditary spastic paraplegia as a model, a disease well suited for the analyses. The critical significance values for confirmation of linkage are evaluated using Bayesian statistics, and empirical P-values for LOD score results are calculated using computer simulation methods. The presented analytical approach resulted in conclusive linkage analyses on small to medium-size families, under the restrictions of genetic heterogeneity.
The second part addresses linkage-disequilibrium based fine mapping in the French Canadian population. The performance of five linkage-disequilibrium based fine-mapping methods is evaluated using French Canadian chromosomes with one of three diseases found in this population: oculopharyngeal muscular dystrophy (OPMD), hidrotic ectodermal dysplasia (HED), and sensorimotor polyneuropathy with or without agenesis of the corpus callosum (ACCPN). The gene for OPMD was recently mapped and cloned, allowing us to evaluate the performance of the methods with the OPMD results, and to make predictions about the ACCPN and HED putative gene positions. In addition, a new approach to linkage-disequilibrium based fine mapping is presented using FrenchCanadian ascending genealogies. The method involves two steps. First, the likely founding couple of a mutation-bearing chromosome is identified using a computerised randomisation statistic. Then, using a delete-d jackknife resampling scheme, the distribution of gene mapping estimates is calculated from the count of ancestral recombinants and ancestral meioses joining the identified founding couple to the disease gene carriers. Gene mapping estimates are calculated from each marker individually, and confidence intervals of the estimates are derived from the jackknife distributions. The method, when applied to French Canadian families with OPMD, successfully confirmed the localisation of PABP2 responsible for OPMD and performed better than other linkage disequilibrium-based mapping models.

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De, Bustos Cecilia. "Genetic and Epigenetic Variation in the Human Genome : Analysis of Phenotypically Normal Individuals and Patients Affected with Brain Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6629.

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Heilbronn, Leonie Kaye. "Gene/environment interactions in human obesity." Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.

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6

Bell, Christopher Graeme. "The genetics of human obesity." Thesis, Imperial College London, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433662.

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Jennings, Michael William. "Developmental genetics of human haemoglobin." Thesis, University of Oxford, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.236131.

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Bell, Jordana Tzenova. "Epistasis in complex human traits." Thesis, University of Oxford, 2006. http://ora.ox.ac.uk/objects/uuid:547db446-c84c-4a6c-8b5c-ce960f7765c5.

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Melin, Malin. "Identification of Candidate Genes in Four Human Disorders." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7344.

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Nelki, Daniel S. "The ownership of human genes and human tissue." Thesis, City University London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301178.

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Daskalaki, Evangelia. "Archaeological Genetics - Approaching Human History through DNA Analysis." Doctoral thesis, Uppsala universitet, Evolutionsbiologi, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-211156.

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There are a variety of archaeological questions, which are difficult to assess by traditional archaeological methods. Similarly, there are genetic and population genetic questions about human evolution and migration that are difficult to assess by studying modern day genetic variation. Archaeological genetics can directly study the archaeological remains, allowing human history to be explored by means of genetics, and genetics to be expanded into historical and pre-historical times. Examples of archaeological questions that can be resolved by genetics are determining biological sex on archaeological remains and exploring the kinship or groups buried in close proximity. Another example is one of the most important events in human prehistory – the transition from a hunter-gatherer lifestyle to farming - was driven through the diffusion of ideas or with migrating farmers. Molecular genetics has the potential to contribute in answering all these questions as well as others of similar nature. However, it is essential that the pitfalls of ancient DNA, namely fragmentation, damage and contamination are handled during data collection and data analysis. Analyses of ancient DNA presented in this thesis are based on both mitochondrial DNA and nuclear DNA through the study of single nuclear polymorphisms (SNPs). I used pyrosequencing assays in order to identify the biological sex of archaeological remains as well as verifying if fragmented remains were human or from animal sources. I used a clonal assay approach in order to retrieve sequences for the HVRI of a small family-like burial constellation from the Viking age. By the use of low coverage shotgun sequencing I retrieved sequence data from 13 crew members from the 17th century Swedish man-of-war Kronan. This data was used to determine the ancestry of the crew, which in some cases was speculated to be of non-Scandinavian or non-European origin. However, I demonstrate that all individuals were of European ancestry. Finally, I retrieved sequence data from a Neolithic farmer from the Iberian Peninsula, which added one more facet of information in exploring the Neolithization process of Europe. The Neolithic Iberian individual was genetically similar to Scandinavian Neolithic farmers, indicating that the genetic variation of prehistoric Europe correlated with subsistence mode rather than with geography.

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Balciuniene, Jorune. "Genetic studies of two inherited human phenotypes : Hearing loss and monoamine oxidase activity." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2001. http://publications.uu.se/theses/91-554-4917-4/.

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Cooke, Graham Stephen. "Human genetics and susceptibility to tuberculosis." Thesis, University of Oxford, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.410623.

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Murphy, Morna J. "Molecular genetics of human ovarian cancer." Thesis, Queen's University Belfast, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317465.

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Sharpe, C. R. "Genes for human apolipoproteins." Thesis, University of Oxford, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.355777.

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Tai, Lai-shan, and 戴麗珊. "Molecular genetic characterizations of human non-small cell lung cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375315.

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Youd, Heather Yvonne. "Investigation of the human hybridoma system for the production of human monclonal antibodies." Thesis, University of Liverpool, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.316602.

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Olsson, Anna-Karin. "Ras-MAPK signaling in differentiating SH-SY5Y human neuroblastoma cells." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2000. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1251.

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Neuroblastoma is a malignant childhood cancer, originating from sympathetic neuroblasts of the peripheral nervous system. Neuroblastoma is a heterogenous group of tumours, while some are highly malignant others can spontaneosly mature into a more benign form or regress. Less than half of the patients survive and this statistics has improved only modestly over the past 20 years.

SH-SY5Y is a human neuroblastoma cell line established from a highly malignant tumour. The cells have retained a capacity to differentiate in vitro in response to low concentrations of the phorbolester 12-O-tetradecanoylphorbol-13-acetate (TPA) in the presence of serum or defined growth factors. Differentiated cells are characterised by neurite formation and upregulation of neuronal marker genes. SH-SY5Y are unresponsive to nerve growth factor (NGF), but when transfected to express the NGF-receptor TrkA, they differentiate in response to NGF. Protein kinase C (PKC) is pivotal for the differentiation response to take place.

We have investigated the role of signaling through the Ras-MAPK pathway in differentiating SH-SY5Y, with respect to neurite formation, expression of neuronal marker genes and growth control. Our results show that differentiation-promoting treatment induced a sustained activation and nuclear accumulation of the MAPK ERK in SH-SY5Y. The nuclear accumulation of ERK was PKC-dependent. However, nuclear accumulation of ERK was not sufficient for a differentiation response to take place in these cells, but ERK activity was needed for the characteristic upregulation of NPY and GAP-43 induced by TPA. ERK activity did not induce neurite formation, neither was it necessary for TPA-induced neurite formation. Instead, stimulation of a pathway distinct from MEK/ERK, but downstream of Ras, was needed for morphological differentiation. We could also show that differentiated cells still entered S-phase and that there was no correlation between expression of the CKI p21_cip1 (an ERK target), BrdU-incorporation or neurite formation.

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Behbehani, M. J. "Genetics, development and psychophysiology." Thesis, University of York, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.374162.

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Proença, Marcela Alcântara [UNESP]. "Associação de polimorfismos nos genes TLR2 e TLR4 com risco de câncer colorretal esporádico e influência na expressão gênica." Universidade Estadual Paulista (UNESP), 2013. http://hdl.handle.net/11449/92527.

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O câncer colorretal (CCR) é um dos modelos da associação inflamação-câncer. Assim, polimorfismos em genes que desempenham um papel importante na suscetibilidade a doenças inflamatórias, como os receptores Toll-like (TLR2 e TLR4), podem ser alvos interessantes para estudos de possíveis marcadores moleculares para CCR. Objetivos: Avaliar a associação dos polimorfismos TLR2 -196 a -174del, TLR4 -1607 T/C (rs10759932) e TLR4 +896 A/G (rs4986790), e de fatores de risco (gênero, idade, tabagismo e etilismo) com o desenvolvimento de CCR; assim como determinar os níveis de expressão relativa desses genes no tecido tumoral e a influência dos polimorfismos funcionais sobre os níveis de expressão do RNAm. Materiais e Métodos: Foram genotipadas 434 amostras (194 de pacientes com CCR e 240 de indivíduos saudáveis) de DNA de leucócitos de sangue periférico ou de células de tecido tumoral (DNA e RNA), por meio das técnicas de PCR alelo-específico e PCR-RFLP. A análise de regressão logística múltipla foi utilizada para avaliar a associação dos polimorfismos com risco de CCR, aplicando os modelos log-aditivo, dominante e recessivo, ajustados para os fatores de risco. Para a quantificação relativa (RQ) do RNAm foi utilizada a técnica de PCR quantitativa em tempo real (qPCR) em 40 amostras de tecido tumoral. Resultados: A variante polimórfica TLR2 -196 a -174del foi associada com risco aumentado de desenvolvimento de CCR de acordo com os modelos dominante (OR=1,72, IC95%=1,03-2,89; p=0,038) e log-aditivo (OR=1,59, IC95%=1,02-2,48; p=0,039), porém para os polimorfismos TLR4 -1607 T/C e TLR4 +896 A/G não foi encontrada associação. Idade acima de 60 anos (OR=1,83, IC95%=1,26-2,90; p=0,003) e hábito etilista (OR=2,78, IC95%=1,68-4,60; p=0,000) também estão associados com risco...
Colorectal cancer (CRC) is one of the models of inflammation-cancer association. Thus, polymorphisms in genes that play a role in susceptibility to inflammatory diseases, such as Toll-like receptors (TLR2 and TLR4) may be interesting targets for studies of potential molecular markers for CRC. Objectives: To evaluate the association of polymorphisms TLR2 -196 to -174del, TLR4 -1607 T/C (rs10759932) and TLR4 +896 A/G (rs4986790) and risk factors (gender, age, smoking and drinking habits) with CRC development, as well as to determine the relative expression levels of these genes in tumor tissue and influence of functional polymorphisms on the levels of mRNA expression. Materials and Methods: We genotyped 434 samples (194 patients with CRC and 240 from healthy individuals) of DNA from peripheral blood leukocytes or tumor tissue cells (DNA and RNA), by PCR allele-specific or PCR -RFLP. The multiple logistic regression analysis was performed to evaluate the association between the polymorphisms with risk of CRC, applying the log-additive, dominant and recessive models, adjusted for risk factors. The relative quantification (RQ) of the mRNA was performed by the real time quantitative PCR (qPCR) technique in 40 tumor tissue samples. Results: The polymorphic variant TLR2 -196 to -174del was associated with increased risk of developing CRC according to both dominant (OR=1.72, 95%CI=1.03 to 2.89, p=0.038) and log-additive models (OR=1.59, 95%CI=1.02 to 2.48, p=0.039), but for the TLR4 -1607 T/C and TLR4 +896 A/G polymorphisms no association was found. Age above 60 years old (OR=1.83, 95%CI=1.26 to 2.90, p=0.003) and alcohol consumption (OR=2.78, 95%CI=1.68 to 4.60, p=0.000) are also associated with increased risk for developing of this cancer. Analysis of relative quantification of the mRNA showed a... (Complete abstract click electronic access below)

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Pandya, Arpita. "Human Y-chromosomal DNA variation." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298658.

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Munro, June. "Studies on cloned human DNA." Thesis, University of Glasgow, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305785.

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MacLeod, Ronald. "Gene expression in human neutrophils." Thesis, University of Liverpool, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317206.

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Hempel, Nadine. "Gene regulation of the human SULT1A sulfotransferases /." [St. Lucia, Qld.], 2004. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe18151.pdf.

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Gellatly, Corry. "The genetics of human sex ratio evolution." Thesis, University of Newcastle Upon Tyne, 2010. http://hdl.handle.net/10443/902.

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This study examined the hypothesis that natural selection exerts control of the human sex ratio via allelic variation in an autosomal gene that is phenotypically expressed in the male reproductive system. The hypothesis was supported by results from an analysis of a large genealogical dataset, in which inheritance of sex ratio variation by male but not female offspring was found. A series of simulations with a population genetic model showed that equality of the sex ratio may be maintained in a dynamic equilibrium by frequency dependent selection acting on such a gene. These simulations also suggest that long-term oscillations and autocorrelation between years in annual human sex ratio data may be explained by the hypothesis. A further set of simulations showed that an episode of increased male mortality - in a population with a sex ratio determined by the proposed gene - may result in a sudden increase in male births, provided the mortality is limited to a narrow cohort of males and that families with a greater tendency to have male offspring tend to be larger than those with a tendency to produce equal male and female offspring. To explore whether this could provide an explanation for significant increases in male births observed during periods of war, military service records and genealogical data were examined to determine the age structure of recruits to the British Army in the First World War and the typical age of fatherhood at the time. It was found that the cohort of men lost to the war were younger than men who typically became fathers. It was also found that families with offspring of a single sex tend to be larger than those with both sexes. As such, this work supports the hypothesis that the loss of young men in war results in a relative increase in male births, due to increased fatherhood by men from families with more male offspring (i.e. men with more brothers than sisters), because these men are most likely to have inherited a greater tendency to produce male offspring.

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Ching, Yung-Hao. "Molecular genetics of human atrial septal defects." Thesis, University of Nottingham, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.246413.

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Yelensky, Roman. "Proxy genotypes and phenotypes for human genetics." Thesis, Massachusetts Institute of Technology, 2008. http://hdl.handle.net/1721.1/45913.

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Thesis (Ph. D.)--Harvard-MIT Division of Health Sciences and Technology, 2008.
Includes bibliographical references.
Genetic mapping by association is an unbiased approach to discover genes and pathways influencing disease traits and response to drugs and environmental exposures. There are two key obstacles to mapping in humans: (1) The full sequence of study subjects cannot yet be obtained; and (2) There are substantial limits to the phenotypes that can be safely elicited or measured. Geneticists thus rely on practically measurable sets of genotypes to proxy for the sequence and human in-vitro models that proxy for in-vivo genetics and physiology while allowing for perturbation and characterization in high throughput. This thesis presents the development of one important class of proxy genotypes, those that capture most common genetic variation, as well as an evaluation and refinement of proxy phenotypes offered by one commonly used in-vitro model, the lymphoblastoid cell-line.Capturing common human genetic variation for genome-wide association studies requires genotyping a feasible subset of proxy (or "tag") SNPs. We investigated selection and analysis of tag SNPs, examined the relationship between investment in genotyping and statistical power, and evaluated whether power is compromised when tags are selected from an incomplete resource such as HapMap. We demonstrate an efficient haplotypebased tagging approach and other methods that dramatically increase tagging efficiency. Examining all observed haplotypes for association increases power to detect rare causal alleles, while reducing power for common alleles. Power is robust to completeness of the reference panel and holds across demographically related groups.Lymphoblastoid cell lines (LCLs) are being developed into an in-vitro model where genetics of human gene expression, drug response, and other traits can be studied under controlled conditions. However, the impact of the immortalization process, the relative influence of non-genetic factors, and reproducibility of measured traits are not yet understood.
(cont.) We addressed these questions while mapping loci for response to chemotherapy and found that traits in LCLs are subject to substantial confounders and are only modestly reproducible in independent experiments. Despite this, RNA expression of many genes is affected by genetic variation and predicts response to drugs; integrating SNPs, RNA, and drug response can identify novel pharmacogenetic variation mediated by RNA.
by Roman Yelensky.
Ph.D.

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Turnbough, Meredith A. "Applications of Molecular Genetics to Human Identity." Thesis, University of North Texas, 2008. https://digital.library.unt.edu/ark:/67531/metadc9730/.

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The primary objectives of this project were: 1. to develop improved methods for extraction of DNA from human skeletal remains, 2. to improve STR profiling success of low-copy DNA samples by employing whole genome amplification to amplify the total pool of DNA prior to STR analysis, and 3. to improve STR profiling success of damaged DNA templates by using DNA repair enzymes to reduce the number/severity of lesions that interfere with STR profiling. The data from this study support the following conclusions. Inhibitory compounds must be removed prior to enzymatic amplification; either during bone section pretreatment or by the DNA extraction method. Overall, bleach outperformed UV as a pretreatment and DNA extraction using silica outperformed microconcentration and organic extraction. DNA repair with PreCR A outperformed both whole genome amplification and repair with PreCR T6. Superior DNA extraction results were achieved using the A6 PMB columns (20 ml capacity column with 6 layers of type A glass fiber filter), and DNA repair with PreCR A led to an overall improvement in profile quality in most cases, although whole genome amplification was unsuccessful. Rapid, robust DNA isolation, successful amplification of loci from the sample-derived DNA pool, and an elimination of DNA damage and inhibitors may assist in providing sufficient genetic information from cases that might otherwise lie on the fringe of what is possible to obtain today.

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Turnbough, Meredith A. Benjamin Robert C. "Applications of molecular genetics to human identity." [Denton, Tex.] : University of North Texas, 2008. http://digital.library.unt.edu/permalink/meta-dc-9730.

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Jenkins, Dagan. "The genetics of human renal tract malformations." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1445686/.

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The identification of mechanisms by which congenital renal tract malformations arise is an important area of research given that these defects account for approximately half of all children who progress to end-stage renal failure. Understanding the genetic contribution to this pathogenesis is of particular value, facilitating the counselling of families with a history of disease, serving to highlight the critical window(s) during which the course of development is altered, and aiding in the identification of molecular pathways that might be amenable to therapy in the future. This thesis is focused on furthering our understanding of how non-syndromic renal tract malformations are genetically determined. It was hypothesised that human renal tract malformations may be caused by mutations of genes in the Uroplakin (UP) family and Sonic hedgehog (SHH), and that these genes are expressed at specific sites in tissues during normal human renal tract development. It was shown that UPIIIa, a gene expressed in early human development, is mutated in a subset of patients with severe bilateral renal adysplasia. However, no definitive evidence was found that UPII mutations cause renal tract malformations, although variants in this gene might be a rare predisposing factor. Furthermore, no support was found for SHH mutations in human persistent cloaca, although UPIIIa mutations are occasionally associated with this condition. The expression patterns of SHH signalling proteins in normal human renal tract development is consistent with a variety of signalling modes, namely epithelial-to-epithelium canonical signalling in the cloaca, epithelial-to- mesenchyme canonical signalling in the urogenital sinus and epithelial-to-epithelium non-canonical signalling in kidney medullary collecting ducts. The discovery of mutations in children with renal tract malformations will provide families with long-sought explanations regarding the pathogenesis of disease and may also have implications for genetic counselling. The proposed studies will also shed light on the cell biology of normal human renal tract development.

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Chapman, Nicola H. "Genome descent in isolated populations /." Thesis, Connect to this title online; UW restricted, 2001. http://hdl.handle.net/1773/9583.

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Capobianco, Marcela Petrolini [UNESP]. "Polimorfismos dos Genes CD40, CD40L e BLYS, associados na co-estimulação dos Linfócitos B, em indivíduos naturalmente infectados pelo Plasmodium vivax na Amazônia Brasileira." Universidade Estadual Paulista (UNESP), 2013. http://hdl.handle.net/11449/92537.

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Plasmodium vivax é a espécie mais prevalente de malária no Brasil. O processo co-evolutivo parasita-hospedeiro pode ser visto como uma ferramenta, na qual trocas genéticas adaptativas podem influenciar na diversidade da população. Objetivo: Investigar polimorfismos de genes envolvidos na resposta imune humoral visando identificar possíveis associações com a malária. Material e Métodos: a amostra foi constiuída por 103 pacientes com malária vivax não complicada e como grupo controle 97 indíviduos não-maláricos. A identificação dos SNPs –726T>C no gene CD40L, -1 C>T no gene CD40 e -871C>T no gene BLYS foram efetuadas pelo método de PCR-RFLP. As frequências genotípicas, alélicas e de indivíduos portadores de cada alelo foram estimadas por contagem direta. Também foram comparadas as frequências genotípicas observadas com as esperadas segundo o teorema de Hardy e Weinberg. Resultados: As freqüências genotípicas e alélicas para esses SNPs não diferiram estatisticamente entre pacientes e indivíduos do grupo controle. A combinação dos genótipos entre os genes CD40 e BLYS e entre CD40L e BLYS não revelou interação gênica na população estudada. Não foi observada associação entre resposta imune humoral e parasitemia nos indivíduos maláricos com os polimorfismos dos genes investigados. Ambos os genes se encontram em equilíbrio de Hardy e Weinberg. Conclusões: Os resultados deste estudo sugerem que as variantes genéticas analisadas nos genes CD40, CD40L e BLYS não afetam a funcionalidade das moléculas de modo que possa interferir na susceptibilidade a doença, mas estas variantes podem influenciar o curso clínico em vez de simplesmente aumentar ou diminuir a susceptibilidade
Plasmodium vivax is the most prevalent malaria species in Brazil. The parasite-host coevolutionary process can be viewed as an ‘arms race’, in which adaptive genetic changes in one are eventually matched by alterations in the other. Objectives: following the candidate gene approach we analyzed the CD40, CD40L and BLYS genes that participate in B-cell co-stimulation, for associations with P. vivax malaria. Methods: the study sample included 97 patients and 103 controls. We extracted DNA using the extraction and purification commercial kit and identified the following SNPs: -1C>T in the CD40 gene, –726T>C in the CD40L gene and the -871C>T in the BLyS gene using PCR-RFLP. We analyzed the genotype and allele frequencies by direct counting. We also compared the observed with the expected genotype frequencies using the Hardy-Weinberg Equilibrium. Results: The allele and genotype frequencies for these SNPs did not differ statistically between patient and control groups. Gene-gene interactions were not observed between the CD40 and BLYS and between the CD40L and BLYS genes. Overall, the genes were in Hardy-Weinberg Equilibrium. Significant differences were not observed among the frequencies of antibody responses against P. vivax sporozoite and erythrocytic antigens and the CD40 and BLYS genotypes Conclusions: the results of this study show that, although the investigated CD40, CD40L and BLYS alleles differ functionally, this variation does not alter the functionality of the molecules in a way that would interfere in susceptibility to the disease. Significance: The variants of these genes may influence the clinical course rather than simply increase or decrease susceptibility

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Pauls, David G. "Evangelical attitudes towards human enhancement a survey of the Midwest District of the Evangelical Free Church of America /." Theological Research Exchange Network (TREN) Theological Research Exchange Network (TREN) Access this title online, 2006. http://www.tren.com.

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Norwitz, Errol R. "Prostaglandin production by human decidual cells." Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.314894.

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35

Nicholl, Amanda Jayne. "Volume regulation in human cancer cells." Thesis, University of Huddersfield, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.368311.

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36

Brookes, Anthony Joseph. "Molecular analysis of human collagen genes." Thesis, University College London (University of London), 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.267102.

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37

Daniels, Robert. "Gene expression in human preimplantation embryos." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286315.

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Xu, Xiao. "Human alpha defensin CNV haplotype diversity." Thesis, University of Nottingham, 2018. http://eprints.nottingham.ac.uk/51262/.

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Humans have highly variable number of alpha defensin genes, with between 3-16 diploid copies. Alpha-defensin genes have important roles in human innate immunity and diseases. Recently, GWAS studies reported this locus associated with IgA nephropathy and periodontitis. However, the underlying mechanism of association is not clear. In this Ph.D. thesis, human alpha defensin CNV flanking haplotype diversity in global populations was studied and the association between diseases and haplotype classes was discussed. Then a novo method to detect variants from inside the DEFA1A3 CNV was developed and a list of potential disease-related mutations for further functional studies was generated. The association between CNV internal variants and flanking haplotype classes was studied. Non-allelic homologous recombination was found to be the major mechanism of CNV formation of alpha defensin CNV. Analysis results were verified by PCR and Sanger sequencing-based methods. Additional to that, the haplotype diversity analysis highlighted an unusual haplotype 5T/7C which is only found in European populations but highly diverged from other human haplotypes. Further evidence was provided to suggest that this is an introgressed haplotype from Neanderthals. Furthermore, we used Oxford Nanopore to reconstruct haplotype structure in DEFA1A3 CNV and discussed its advantages and limitations by our analysis results. In brief, this Ph.D. research greatly improved our understanding of DEFA1A3 global diversity, evolutionary history, diseases and haplotype association.

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39

Rootsi, Siiri. "Human Y-chromosomal variation in European populations /." Tartu : Tartu University Press, 2004. http://dspace.utlib.ee/dspace/bitstream/10062/1252/5/rootsi.pdf.

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Haider, Ishita. "Global identification of human modifier genes of alpha-synuclein toxicity." Wright State University / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=wright1598739915162635.

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41

Gao, Ling. "p53 Alterations in Human Skin : A Molecular Study Based on Morphology." Doctoral thesis, Uppsala University, Department of Genetics and Pathology, 2001. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1465.

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Mutation of the p53 gene appears to be an early event in skin cancer development. The present study is based on morphology and represents a cellular and genetic investigation of p53 alterations in normal human skin and basal cell cancer.

Using double immunofluorescent labelling, we have demonstrated an increase in thymine dimers and p53 protein expression in the same keratinocytes following ultraviolet radiation. Large inter-individual differences in the kinetics of thymine dimer repair and subsequent epidermal p53 response were evident in both sunscreen-protected and non-protected skin. The formation of thymine dimers and the epidermal p53 response were partially blocked by topical sunscreen. We have optimized a method to analyze the p53 gene in single cells from frozen tissue sections. In chronically sun-exposed skin there exist clusters of p53 immunoreactive keratinocytes (p53 clones) in addition to scattered p53 immunoreactive cells. Laser assisted microdissection was used to retrieve single keratinocytes from immunostained tissue sections, single cells were amplified and the p53 gene was sequenced. We have shown that p53 mutations are prevalent in normal skin. Furthermore, we detected an epidermal p53 clone which had prevailed despite two months of total protection from ultraviolet light. Loss of heterozygosity in the PTCH and p53 loci as well as in the sequenced p53 gene was determined in basal cell cancer from sporadic cases and in patients with Gorlin syndrome. Allelic loss in the PTCH region was prominent in both sporadic and hereditary tumors, while loss of heterozygosity in the p53 locus was rare in both groups. p53 mutations found in the hereditary tumors differed from the typical mutations found in sporadic cases. In addition, we found genetically linked subclones with partially different p53 and/or PTCH genotypes in individual tumors. Our data show that both genes are important in the development of basal cell cancer.

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42

Warnefors, Anna Maria Linne´a. "Evolution of human gene expression." Thesis, University of Sussex, 2011. http://sro.sussex.ac.uk/id/eprint/6979/.

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During evolution, biological differences between species can arise not only due to structural differences between genes, but also following changes in how, where and when genes are active. However, we know much less about this second aspect, because large-scale comparative transcriptomics only became feasible relatively recently. In this thesis, I will therefore investigate several aspects of gene expression evolution, with emphasis on our own species. A first step to understanding regulatory evolution is to determine how variation in gene expression is created. Transposable elements (TEs) are genomic parasites that can affect their host genome in a number of ways, including gene expression. In Chapter 2, I investigate to what extent transposable elements (TEs) have contributed to expression differences between humans and chimpanzees. Once expression variation has been established, a combination of selection and drift will decide which variants are passed on to future generations. It is of particular interest to identify changes that were established through positive selection, as these are adaptive. In Chapter 3, I describe a new method to detect positive selection acting on gene expression and apply it to data from humans and chimpanzees. Human gene expression is regulated through several mechanisms associated with transcription and post-transcriptional processing. In Chapter 4, I consider the long-term evolution of the human genome and investigate whether genes have reached their maximum capacity in terms of regulatory complexity. Finally, in Chapter 5, I explore the relationship between gene regulation and sequence conservation by identifying and analysing extremely conserved elements in the genome of the fruit fly Drosophila melanogaster.

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Rowell, Jennie Lynn. "GENETIC VARIATION IN THE DOMESTICATED DOG AS A MODEL OF HUMAN DISEASE." The Ohio State University, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=osu1338237356.

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44

Crisci, Jessica L. "On Identifying Signatures of Positive Selection in Human Populations: A Dissertation." eScholarship@UMMS, 2013. https://escholarship.umassmed.edu/gsbs_diss/664.

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As sequencing technology continues to produce better quality genomes at decreasing costs, there has been a recent surge in the variety of data that we are now able to analyze. This is particularly true with regards to our understanding of the human genome—where the last decade has seen data advances in primate epigenomics, ancient hominid genomics, and a proliferation of human polymorphism data from multiple populations. In order to utilize such data however, it has become critical to develop increasingly sophisticated tools spanning both bioinformatics and statistical inference. In population genetics particularly, new statistical approaches for analyzing population data are constantly being developed—unfortunately, often without proper model testing and evaluation of type-I and type-II error. Because the common Wright-Fisher assumptions underlying such models are generally violated in natural populations, this statistical testing is critical. Thus, my dissertation has two distinct but related themes: 1) evaluating methods of statistical inference in population genetics, and 2) utilizing these methods to analyze the evolutionary history of humans and our closest relatives. The resulting collection of work has not only provided important biological insights (including some of the first strong evidence of selection on human-specific epigenetic modifications (Shulha, Crisci, Reshetov, Tushir et al. 2012, PLoS Bio), and a characterization of human-specific genetic changes distinguishing modern humans from Neanderthals (Crisci et al. 2011, GBE)), but also important insights in to the performance of population genetic methodologies which will motivate the future development of improved approaches for statistical inference (Crisci et al, in review).

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45

Crisci, Jessica L. "On Identifying Signatures of Positive Selection in Human Populations: A Dissertation." eScholarship@UMMS, 2006. http://escholarship.umassmed.edu/gsbs_diss/664.

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Abstract:

As sequencing technology continues to produce better quality genomes at decreasing costs, there has been a recent surge in the variety of data that we are now able to analyze. This is particularly true with regards to our understanding of the human genome—where the last decade has seen data advances in primate epigenomics, ancient hominid genomics, and a proliferation of human polymorphism data from multiple populations. In order to utilize such data however, it has become critical to develop increasingly sophisticated tools spanning both bioinformatics and statistical inference. In population genetics particularly, new statistical approaches for analyzing population data are constantly being developed—unfortunately, often without proper model testing and evaluation of type-I and type-II error. Because the common Wright-Fisher assumptions underlying such models are generally violated in natural populations, this statistical testing is critical. Thus, my dissertation has two distinct but related themes: 1) evaluating methods of statistical inference in population genetics, and 2) utilizing these methods to analyze the evolutionary history of humans and our closest relatives. The resulting collection of work has not only provided important biological insights (including some of the first strong evidence of selection on human-specific epigenetic modifications (Shulha, Crisci, Reshetov, Tushir et al. 2012, PLoS Bio), and a characterization of human-specific genetic changes distinguishing modern humans from Neanderthals (Crisci et al. 2011, GBE)), but also important insights in to the performance of population genetic methodologies which will motivate the future development of improved approaches for statistical inference (Crisci et al, in review).

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46

林大偉 and Tai-wai Lam. "Structural organization, transcriptional regulation and chromosomal localization of the human secretin gene." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31224593.

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47

McCann, Jennifer. "Variability of genomic imprinting in human disease." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84294.

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Genomic imprinting is the differential expression of genetic material depending on the parent from which it is transmitted. It is involved in the pathogenesis of many diseases, especially those involved in development, growth abnormalities and cancer. We examined the extent of and the variability of genomic imprinting amongst individuals in three human diseases, Wilms' tumour, Type 1 diabetes and Silver-Russell syndrome.
Wilms' tumour (WT) is a renal embryonal cancer associated with overexpression of the insulin-like growth factor 2 (IGF2). IGF2 is directed to the lysosomes for degradation by the mannose-6-phosphate/insulin-like growth factor two receptor (M6P/IGF2R) encoded by the IGF2R gene, a known tumour suppressor gene on 6826. IGF2R is imprinted in the mouse, with exclusive maternal expression. In humans, however, IGF2R imprinting is a polymorphic phenomenon only being found in a small subset of people. We present results suggesting that IGF2R imprinting provides the first "hit" in IGF2R inactivation in WT, and show the presence of a second "hit" in the form of deletions detectable as loss of heterozygosity.
Another disease investigated in this report is Type 1 diabetes (TID), an autoimmune, polygenic disease. Of the several T1D loci, IDDM8 on 6q, has been found to be subject to parent-of-origin effects and encompasses IGF2R. M6P/IGF2R is involved in immune system regulation. In this study we show an association between TID and IGF2R that is confined to maternally inherited alleles. Our results strongly suggest that IGF2R is a TID susceptibility gene and may be universally imprinted at some tissue or developmental stage not yet studied.
A third disease displaying both tissue-specific and isoform-specific imprinting is Silver-Russell syndrome (SRS), a growth disorder associated with double dose of a maternally expressed gene within 7p11.2--p13, a region in which the imprinted GRB10 gene was a prime candidate. We studied the complex tissue and isoform-dependence of GRB10 imprinting and demonstrated absence of imprinting in growth plate cartilage, the tissue most directly involved in linear growth thus eliminating GRB10 as the gene responsible for SRS.
It is evident that genomic imprinting plays a prominent role in various diseases. Imprinted genes can be expressed in a tissue-specific, isoform-specific or a temporally regulated manner. In addition, there is a wide variability of imprinting between individuals.

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48

Wright, David Jonathan. "Investigating statistical homogeneity of a human chromosome." Thesis, Queen Mary, University of London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338927.

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49

Sarma, Ushasri. "Regulation of human osteoclast formation 17Î² estradiol." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312178.

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50

Fisher, Richard B. "Molecular studies of the human Y chromosome." Thesis, University of Oxford, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.305558.

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Dissertations / Theses on the topic 'Human genetics'

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