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Dissertations / Theses on the topic 'Complex and Mendelian Human Genetic'

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Published: 4 June 2021

Last updated: 2 February 2022

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1

Spataro, Nino 1984. "Human genetic disorders: Mendelian and complex diseases." Doctoral thesis, Universitat Pompeu Fabra, 2016. http://hdl.handle.net/10803/482220.

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From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of disease aetiology. Highly penetrant disorders with Mendelian inheritance are mostly explained by the mutation-selection balance model, which is insufficient to describe the selective pressures acting on the full set of alleles related to diseases. We show in the first two papers that Next Generation Sequencing (NGS) technologies provide a unique opportunity to investigate variat

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2

Lao, Grueso Oscar. "Història natural de les malalties genètiques mendelianes i complexes." Doctoral thesis, Universitat Pompeu Fabra, 2004. http://hdl.handle.net/10803/7210.

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Las enfermedades genéticas se clasifican típicamente en dos grandes grupos: las enfermedades mendelianas y las enfermedades complejas. Mientras que las enfermedades mendelianas se caracterizan por ser de baja frecuencia en la población y estar causadas por mutaciones en un gen particular, las enfermedades complejas son el principal problema sanitario en los países desarrollados y se encuentran producidas por la interacción de factores ambientales y factores genéticos. En este caso no se puede hablar de mutación en un determinado gen, sino de polimorfismo que incrementa en una pequeña fracción

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3

Lao, Grueso Oscar 1976. "Història natural de les malalties genètiques mendelianes i complexes." Doctoral thesis, Universitat Pompeu Fabra, 2004. http://hdl.handle.net/10803/7210.

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Las enfermedades genéticas se clasifican típicamente en dos grandes grupos: las enfermedades mendelianas y las enfermedades complejas. Mientras que las enfermedades mendelianas se caracterizan por ser de baja frecuencia en la población y estar causadas por mutaciones en un gen particular, las enfermedades complejas son el principal problema sanitario en los países desarrollados y se encuentran producidas por la interacción de factores ambientales y factores genéticos. En este caso no se puede hablar de mutación en un determinado gen, sino de polimorfismo que incrementa en una pequeña fracción

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4

Chen, Anlu. "Applying Forward Genetic Approaches to Rare Mendelian Disorders and Complex Traits." Case Western Reserve University School of Graduate Studies / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=case1532522241487661.

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5

Vincent, Quentin. "Epidémiologie et génétique humaine de l’ulcère de Buruli." Thesis, Paris 5, 2014. http://www.theses.fr/2014PA05S019/document.

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L'ulcère de Buruli (UB), infection à Mycobacterium ulcerans, troisième mycobactériose mondiale, connait une émergence rapide depuis 1980, essentiellement dans les pays d'Afrique subsaharienne. Jusqu’ici, les connaissances épidémiologiques sur l’UB étaient fondées sur des séries de cas cliniques non confirmés par laboratoire. Nous avons constitué la plus grande cohorte de cas confirmés à ce jour rassemblant plus de 1200 patients traités au CDTUB de Pobè au Bénin entre 2005 et 2011, afin de décrire l'épidémiologie clinique de la maladie et d'explorer l’architecture génétique de la susceptibilité

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6

Moore, John M. "Using human examples to teach Mendelian genetic concepts : assessing acquisition and retention." Virtual Press, 1989. http://liblink.bsu.edu/uhtbin/catkey/558371.

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This study was designed to investigate whether or not Mendelian genetics instruction using human examples, in contrast to traditional genetic examples, would facilitate the acquisition and retention of four genetic concepts: (1) complete dominance, (2) incomplete dominance, (3) law of segregation, and (4) law of independent assortment. A pre/post/delayed-posttest was designed to assess the acquisition and retention of the concepts and the formation of misconceptions of genetic concepts. A written Piagetian Task Instrument (PTI) was employed to detect cognitive growth toward the formal operatio

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7

Stamm, Demetra Serena North Kari E. "Genetic investigation of both complex and Mendelian disorders neural tube defects and Native American myopathy /." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2007. http://dc.lib.unc.edu/u?/etd,1401.

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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2007.<br>Title from electronic title page (viewed Apr. 25, 2008). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Curriculum of Genetics." Discipline: Genetics and Molecular Biology; Department/School: Medicine.

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8

Sun, Benjamin Boyang. "Genetic determinants of the human plasma proteome and their application in biology and disease." Thesis, University of Cambridge, 2017. https://www.repository.cam.ac.uk/handle/1810/269287.

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Proteins are the primary functional units of biology and the direct targets of most drugs, yet there is limited knowledge of the genetic factors determining inter-individual variation in protein levels (protein quantitative trait loci (pQTLs)). Limitations in high-throughput proteomic measurement technology have meant well-powered genome-wide association studies for large number of proteins so far have lagged behind many of the other "omic" studies such as transcriptomics and metabolomics. This is made more challenging by the complexity of human plasma, characterised by high dynamic range span

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Ying, Dingge, and 应鼎阁. "Identification of shared extended haplotypes in both population-based studies of complex disease and family-based studies of Mendelian disorders." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/205837.

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Recent founder mutations may play important roles in complex diseases and Mendelian disorders. Detecting shared haplotypes of identity by descent (IBD) could facilitate discovery of these mutations. Several programs address this such as threshold-based methods on genetic distance and probabilistic model-based methods, but they are usually limited to only detecting pair-wise shared haplotypes and not providing a comparison between cases and controls. In this study, a novel algorithm and a applied software package (HaploShare)is developed to detect extended haplotypes that are shared by multi

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10

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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11

Lou, Xuemei. "Methods Evaluation and Application in Complex Human Genetic Disease." NCSU, 2008. http://www.lib.ncsu.edu/theses/available/etd-06122008-114358/.

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One of the most important tasks in human genetics is to search for disease susceptibility genes. Linkage and association analyses are two major approaches for disease-gene mapping. Chapter 1 reviewed the development of disease-gene mapping methods in the past decades. Gene mapping of complex human diseases often results in the identification of multiple potential risk variants within a gene and/or in the identification of multiple genes within a linkage peak. Thus a question of interest is to test whether the linkage result can be explained in part or in full by the candidate SNP if it shows e

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12

Alsulaiman, Thamer. "Detecting complex genetic mutations in large human genome data." Diss., University of Iowa, 2019. https://ir.uiowa.edu/etd/6908.

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All cellular forms of life contain Deoxyribonucleic acid (DNA). DNA is a molecule that carries all the information necessary to perform both, basic and complex cellular functions. DNA is replicated to form new tissue/organs, and to pass genetic information to future generations. DNA replication ideally yield an exact copy of the original DNA. While replication generally occurs without error, it may leave DNA vulnerable to accidental changes via mistakes made during the replication process. Those changes are called mutations. Mutations range in magnitude. Yet, mutations of any magnitude range i

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13

Abecasis, G. R. "Methods for fine mapping complex traits in human pedigrees." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365700.

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14

Dunham, Ian. "Molecular mapping of the human major histocompatibility complex." Thesis, University of Oxford, 1988. http://ora.ox.ac.uk/objects/uuid:61559181-d77f-479e-8bfe-2e324d8806bd.

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2. The long range DNA organisation of the class II and class III regions in eight HLA homozygous cell lines has been analysed using PFGE. Comparison of the size of the BssHII restriction fragment observed for these cell lines and five individuals possessing one to three C4 genes, shows that the organisation of the C4 genes on each chromosome can be deduced from a single PFGE experiment. Outside of the C4 and 21-OHase loci the class III region shows a highly invariant structure, with no detectable differences in the amount of DNA present. Moreover the class III region is rich in CpG-islands, on

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15

Rubio, Araúna Lara 1990. "Genetic structure of North African human populations : A complex history of admixture." Doctoral thesis, Universitat Pompeu Fabra, 2017. http://hdl.handle.net/10803/664729.

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North African populations show a complex genetic structure characterized by the admixture of at least four different components: Middle Eastern, sub-Saharan, European and autochthonous North African. However, there are few genome-wide studies focused on North Africa and only two Berber groups have been included in those analyses. In this thesis genotype array data that increases the number of available Berber samples is introduced. This data shows a heterogenous genetic structure of North African populations, including Berbers, and a lack of genetic differentiation between Berber and Arab grou

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16

Wong, Hoi-man Emily, and 黃凱敏. "Genome-wide association analyses on complex diseases: from single-nucleotide polymorphism to copy numbervariation." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50534099.

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Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number

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17

Ndungu, Anne. "Rare genetic variants and susceptibility to severe bacterial diseases." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:9c5745f9-50f9-469a-8771-2e49e75db7ac.

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Infectious diseases are a major cause of morbidity and mortality worldwide. Streptococcus pneumoniae and Neisseria meningitidis are major causes of severe bacterial disease which can manifest as invasive disease such as bacteraemia and meningitis. Exposure to these pathogens is relatively widespread, yet only a minority of individuals develop invasive disease. A host genetic component to infectious disease susceptibility has been implied from twin and adoptee studies. A role for rare large effect genetic variants in predisposition to infection has been demonstrated through the study of individ

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18

Schramm, Heather Elizabeth. "Development of mapping by admixture linkage disequilibrium for understanding human complex genetic diseases /." For electronic version search Digital dissertations database. Restricted to UC campuses. Access is free to UC campus dissertations, 2003. http://uclibs.org/PID/11984.

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19

Tuke, Marcus Aelred. "Exploring the role of low-frequency and structural genetic variation in human complex traits." Thesis, University of Exeter, 2016. http://hdl.handle.net/10871/23687.

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Quantitative traits and disease risk in humans are affected by both genetic and environmental factors. Using genome-wide association studies (GWAS) over the past decade, researchers have been successful in finding common genetic polymorphisms that explain a proportion of the variation in many common phenotypes. Despite these significant leaps forward in our understanding, the heritable components of many traits remain largely unaccounted for. A number of explanations as to the “missing heritability” of complex traits and disease risk have been postulated. This thesis addresses some of the unex

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Racacho, Lemuel Jean. "The Genetic Heterogeneity of Brachydactyly Type A1: Identifying the Molecular Pathways." Thesis, Université d'Ottawa / University of Ottawa, 2015. http://hdl.handle.net/10393/32187.

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Brachydactyly type A1 (BDA1) is a rare autosomal dominant trait characterized by the shortening of the middle phalanges of digits 2-5 and of the proximal phalange of digit 1 in both hands and feet. Many of the brachymesophalangies including BDA1 have been associated with genetic perturbations along the BMP-SMAD signaling pathway. The goal of this thesis is to identify the molecular pathways that are associated with the BDA1 phenotype through the genetic assessment of BDA1-affected families. We identified four missense mutations that are clustered with other reported BDA1 mutations in the ce

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21

Chan, Ying Leong. "Leveraging genetic association data to investigate the polygenic architecture of human traits and diseases." Thesis, Harvard University, 2014. http://dissertations.umi.com/gsas.harvard:11372.

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Many human traits and diseases have a polygenic architecture, where phenotype is partially determined by variation in many genes. These complex traits or diseases can be highly heritable and genome-wide association studies (GWAS) have been relatively successful in the identification of associated variants. However, these variants typically do not account for most of the heritability and thus, the genetic architecture remains uncertain.

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22

Salie, Muneeb. "The role of the major histocompatibility complex and the Leukocyte receptor complex genes in susceptibility to tuberculosis in a South African population." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/86715.

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Thesis (PhD)--Stellenbosch University, 2014.<br>ENGLISH ABSTRACT: Tuberculosis (TB) disease results in approximately 2 million deaths annually and is the leading cause of death due to a single infectious agent. Previous studies have indicated that host genetics play an important role in the development of TB. This together with pathogen and environmental factors intensifies the complexity of this disease. The Major Histocompatibility Complex (MHC) and Leukocyte Receptor Complex (LRC) comprise several genes which are known to be important modulators of the host immune response. The human

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23

Bubb, Kerry Leigh. "The role of balancing selection in maintenance of natural genetic variation /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/10258.

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24

Martínez, Marigorta Urko 1983. "Genetic architecture of complex disease in humans :a cross-population exploration." Doctoral thesis, Universitat Pompeu Fabra, 2012. http://hdl.handle.net/10803/96909.

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The aetiology of common diseases is shaped by the effects of genetic and environmental factors. Big efforts have been devoted to unravel the genetic basis of disease with the hope that it will help to develop new therapeutic treatments and to achieve personalized medicine. With the development of high-throughput genotyping technologies, hundreds of association studies have described many loci associated to disease. However, the depiction of disease architecture remains incomplete. The aim of this work is to perform exhaustive comparisons across human populations to evaluate pressing questions.

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Juko-Pecirep, Ivana. "Analysis of genetic susceptibility to cervical cancer using candidate gene and GWAS approaches." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-248484.

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Cervical cancer is the forth most commonly diagnosed cancer among women worldwide. It is caused by persistent infection with an oncogenic type of Human Papillomavirus (HPV). The HPV is a necessary but not sufficient cause of cervical cancer. Environmental factors such as smoking, high parity and long-term use of oral contraceptives increases the risk of cervical cancer. Genetic factors also affect the risk of developing the disease. The aim of this thesis is to search for and evaluate genetic risk factors for cervical cancer using both a candidate gene approach and a genome-wide association st

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Lie, Hanne Cathrine. "The role of genetic diversity in human sexual selection : is the MHC special?" University of Western Australia. School of Psychology, 2009. http://theses.library.uwa.edu.au/adt-WU2010.0053.

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[Truncated abstract] The assumption that facial attractiveness signals mate quality is central to current evolutionary theories of human sexual selection. Evidence for direct links between attractiveness and mate quality is, however, scarce, and the exact nature of mate quality remains the subject of debate. Mate quality may include genetic diversity, because genome-wide diversity has been linked to individual fitness, and diversity within the Major Histocompatibility Complex (MHC) has been associated with immunocompetence and health in many species. This thesis investigates whether individual

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Trabzuni, D. "The role of genetic variations on gene expression and splicing in control human brain : dissection of the aetiology of complex neurological diseases." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1383780/.

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Over the past two decades there has been a realization of the importance of understanding the underlying molecular mechanism of complex neurological diseases. GWAS studies confirmed a significant association between SNPs and complex neurologic and psychiatric diseases such as Parkinson’s disease and Alzheimer’s disease. In this project, the impact of genetic variations on gene expression and alternative splicing in control post-mortem human brain tissues from twelve different regions were assessed. These are disease associated regions and support different functional roles. They are: frontal c

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Chung, Erwin Kay Wang. "The sophisticated genetic diversities of human complement component C4 and RCCX modules in systemic lupus erythematosus and congenital adrenal hyperplasia." Connect to this title online, 2003. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1054077891.

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Thesis (Ph. D.)--Ohio State University, 2004.<br>Title from first page of PDF file. Document formatted into pages; contains xxxii, 311 p.; also includes graphics (some col.). Includes bibliographical references (p. 287-311). Available online via OhioLINK's ETD Center

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Salfati, Elias Levy Itshak. "Genetic determinants of cardiovascular disease : heritability and genetic risk score." Thesis, Paris 5, 2014. http://www.theses.fr/2014PA05S014/document.

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Les maladies complexes telles que les maladies cardio-Vasculaires (MCV) sont influencées par des facteurs génétiques et environnementaux. L’estimation du risque cardio-Vasculaire chez un individu est généralement évaluée par la sommation des facteurs de risque reconnu des MCV (p. ex. l’âge, le sexe, le tabac, la pression artérielle et le cholestérol). Dernièrement, plusieurs bio-Marqueurs ont été examiné pour leur aptitude à améliorer la prédiction des maladies cardio-Vasculaires au-Delà des facteurs de risques traditionnels. L’intérêt de découvrir de nouveaux loci est incité notamment par les

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Goldberg, Ximena. "Complex Models of Genetic and Environmental Influences on Human Cognition. Implications for Functional Psychoses / Modelos complejos de las influencias genéticas y ambientales en la cognición humana. Implicaciones para las psicosis funcionales." Doctoral thesis, Universitat de Barcelona, 2012. http://hdl.handle.net/10803/83588.

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The general construct of human cognition implies a series of mental processes by means of which human interpret and consequently act on the world that surrounds them (Sternberg y Mio, 2009). During the last decades, the recognition of human diversity and psychological variability among individuals has encouraged challenging questions addressing inter-individual differences that make each subject unique in terms of their cognitive performance (Baddeley, 2003; Botvinick, 2008). In particular, quantitative genetic studies show that both genetic variability and environmental factors are involved i

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Gardner, Michelle. "Genetic diversity of " brain genes" across worldwide." Doctoral thesis, Universitat Pompeu Fabra, 2007. http://hdl.handle.net/10803/7169.

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El treball presentat en aquesta tesi és un estudi de la diversitat genètica en un conjunt de gens implicats en funcions neurològiques ("Gens cerebrals"). Hom ha examinat vint-i-dos gens implicats en els sistemes de neurotransmissió dopaminèrgic, serotoninèrgic i glutamatèrgic.<br/> L'objectiu de l'estudi té dos vessants: per una banda l'anàlisi de la diversitat genètica en un conjunt de gens implicats en malaltia humana, en aquest cas en malaltia psiquiàtrica, en poblacions humanes mundials, amb la intenció d'assentar les bases per propers esforços de mapatge genètic; i per altra banda analitz

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Pitt, Alison Patricia. "Comparison of Middle Eastern Bedouin genotypes with previously studies populations using polymorphic Alu insertions." University of Western Australia. Centre for Forensic Science, 2009. http://theses.library.uwa.edu.au/adt-WU2009.0119.

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[Truncated abstract] Polymorphic Alu insertions (POALINs) are known to contribute to the variation and genetic diversity of the human genome. In this report specific POALINs of the Major Histocompatibility Complex (MHC) were studied. Previous population studies on the MHC POALINs have focused on individuals of African, European and Asian descent. In this study, we expand the research by studying a new and previously uncharacterised population, focusing on the Bedouin from the Middle East. Specifically we report on the individual insertion frequencies of four POALINs within the MHC class I regi

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Kim, Adonia Lee. "The Role of Adaptor Protein Complex-3 Delta-Mediated HIV-1 Gag Trafficking in HIV-1 Replication: A Dissertation." eScholarship@UMMS, 2012. https://escholarship.umassmed.edu/gsbs_diss/612.

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The process of HIV-1 particle production is a multi-step process directed by the viral structural protein Gag. As Gag is the only viral protein required to form virus-like particles, it presents a viable target for anti-viral therapeutics of which there are currently none. Although the functions of Gag during the particle assembly process have been well characterized, one of the least known parts of the assembly process is how Gag is targeted to the site of virus assembly. Two main virus assembly sites have been identified in cells that support HIV-1 replication: the plasma membrane or multive

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Tabuchi, Tomoko M. "Chromosome-Biased Binding and Function of C. elegans DRM Complex, and Its Role in Germline Sex-Silencing: A Dissertation." eScholarship@UMMS, 2011. https://escholarship.umassmed.edu/gsbs_diss/538.

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DRM is a conserved transcription factor complex that includes E2F/DP and pRB family proteins and plays important roles in the cell cycle and cancer. Recent work has unveiled a new aspect of DRM function in regulating genes involved in development and differentiation. These studies, however, were performed with cultured cells and a genome-wide study involving intact organisms undergoing active proliferation and differentiation was lacking. Our goal was to extend the knowledge of the role of DRM in gene regulation through development and in multiple tissues. To accomplish this, we employed genom

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Hanauer, André. "Le chromosome x humain : recherche de sequences exprimees et localisation genique de deux loci correspondanta des maladies." Université Louis Pasteur (Strasbourg) (1971-2008), 1989. http://www.theses.fr/1989STR13010.

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Caracterisation d'expressions geniques liees au chromosome x, de 6 sequences genomiques humaines liees au chromosome x; localisation du syndrome coffin-lowry par analyse de linkage et de la dysplasie ectodermique anhidrotique

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(8126406), Zhipeng Liu. "INTEGRATIVE OMICS REVEALS INSIGHTS INTO HUMAN LIVER DEVELOPMENT, DISEASE ETIOLOGY, AND PRECISION MEDICINE." Thesis, 2019.

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<div><div><div><p>Transcriptomic regulation of human liver is a tightly controlled and highly dynamic process. Genetic and environmental exposures to this process play pivotal roles in the development of multiple liver disorders. Despite accumulating knowledge have gained through large-scale genomics studies in the developed adult livers, the contributing factors to the interindividual variability in the pediatric livers remain largely uninvestigated. In the first two chapters of the present study, we addressed this question through an integrative analysis of both genetic variations and transc

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Heim, Nicole Alexis. "Complex Effects of Human-Impacted Landscapes on the Spatial Patterns of Mammalian Carnivores." Thesis, 2015. http://hdl.handle.net/1828/6116.

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In the face of an expanding global human footprint, mammalian carnivores have become vulnerable to the effects of large-scale landscape change. Throughout North America, wide-ranging terrestrial carnivores have experienced significant species declines and range retractions. Understanding the complex and interacting effects of human-caused habitat disturbance on highly mobile species remains an ongoing challenge for ecologists. To address these challenges, studies commonly select a focal species to examine the adverse effects of human disturbance. Due to the paucity of multi-species study, litt

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Cirulli, Elizabeth Trilby. "Genetic and Environmental Contributions to Baseline Cognitive Ability and Cognitive Response to Topiramate." Diss., 2010. http://hdl.handle.net/10161/3107.

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<p>Although much research has focused on cognitive ability and the genetic and environmental factors that might influence it, this aspect of human nature is still far from being well understood. It has been well-established that certain factors such as age and education have significant impacts on performance on most cognitive tests, but the effects of variables such as cognitive pastimes and strategies used during testing have generally not been assessed. Additionally, no genetic variant has yet been unequivocally shown to influence the normal variation in cognitive ability of healthy indiv

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"EZH2 silences microRNA-218 in human pancreatic ductal adenocarcinoma by inducing formation of heterochromatin." 2013. http://library.cuhk.edu.hk/record=b5884402.

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Li, Chi Han Samson.<br>Thesis (Ph.D.)--Chinese University of Hong Kong, 2013.<br>Includes bibliographical references (leaves 158-175).<br>Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web.<br>Abstract also in Chinese.

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Scarpino, Samuel Vincent. "Applying mathematical and statistical methods to the investigation of complex biological questions." Thesis, 2013. http://hdl.handle.net/2152/25994.

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The research presented in this dissertation integrates data and theory to examine three important topics in biology. In the first chapter, I investigate genetic variation at two loci involved in a genetic incompatibility in the genus Xiphophorus. In this genus, hybrids develop a fatal melanoma due to the interaction of an oncogene and its repressor. Using the genetic variation data from each locus, I fit evolutionary models to test for coevolution between the oncogene and the repressor. The results of this study suggest that the evolutionary trajectory of a microsatellite element in the proxim

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