Dissertations / Theses on the topic 'Genetics – Research'
To see the other types of publications on this topic, follow the link: Genetics – Research.
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 dissertations / theses for your research on the topic 'Genetics – Research.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.
1
Povinelli, Christine Marie. "Genetic analysis of the dihydrofolate reductase and thymidylate synthase genes of bacteriophage T4." Diss., Georgia Institute of Technology, 1987. http://hdl.handle.net/1853/25347.
Full text
2
Hawkins, Naomi. "Human gene patents and translational research in genetics." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.527328.
Full text
3
Chuang, William 1970. "Design of a genetics database for medical research." Thesis, Massachusetts Institute of Technology, 2000. http://hdl.handle.net/1721.1/86291.
Full textAbstract:
Thesis (S.B. and M.Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2000.Includes bibliographical references (leaves 54-57, first group).
by William Chuang.
S.B.and M.Eng.
4
Loh, Yong-Hwee Eddie. "Genetic variation in fast-evolving East African cichlid fishes: an evolutionary perspective." Diss., Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/41148.
Full textAbstract:
Cichlid fishes from the East African Rift lakes Victoria, Tanganyika and Malawi represent a preeminent example of replicated and rapid evolutionary radiation. In this single natural system, numerous morphological (eg. jaw and tooth shape, color patterns, visual sensitivity), behavioral (eg. bower-building) and physiological (eg. development, neural patterning) phenotypes have emerged, much akin to a mutagenic screen. This dissertation encompasses three studies that seek to decipher the underpinnings of such rapid evolutionary diversification, investigated via the genetic variation in East African cichlids.
We generated a valuable cichlid genomic resource of five low-coverage Lake Malawi cichlid genomes, from which the general properties of the genome were characterized. Nucleotide diversity of Malawi cichlids was low at 0.26%, and a sample genotyping study found that biallelic polymorphisms segregate widely throughout the Malawi species flock, making each species a mosaic of ancestrally polymorphic genomes. A second genotyping study expanded our evolutionary analysis to cover the entire East African cichlid radiation, where we found that more than 40% of single nucleotide polymorphisms (SNPs) were ancestral polymorphisms shared across multiple lakes. Bayesian analysis of genetic structure in the data supported the hypothesis that riverine species had contributed significantly to the genomes of Malawi cichlids and that Lake Malawi cichlids are not monophyletic. Both genotyping studies also identified interesting loci involved in important sensory as well as developmental pathways that were well differentiated between species and lineages. We also investigated cichlid genetic variation in relation to the evolution of microRNA regulation, and found that divergent selection on miRNA target sites may have led to differential gene expression, which contributed to the diversification of cichlid species.
Overall, the patterns of cichlid genetic variation seem to be dominated by the phenomena of extensive sharing of ancestral polymorphisms. We thus believe that standing genetic variation in the form of ancestrally inherited polymorphisms, as opposed to variations arising from new mutations, provides much of the genetic diversity on which selection acts, allowing for the rapid and repeated adaptive radiation of East African cichlids.
5
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.
Full text
6
Withgott, Jay. "Genes for Queens: Understanding More About Bee Genetics." College of Agriculture and Life Sciences, University of Arizona (Tucson, AZ), 2000. http://hdl.handle.net/10150/622276.
Full text
7
Aldous, Colleen Michelle. "University level genetics students' competencies in selected science process skills." Diss., Pretoria : [s.n.], 2005. http://upetd.up.ac.za/thesis/available/etd-02092006-120752.
Full text
8
Webb, Sim F. "Cell culture of human lens epithelia in cataract research." Thesis, University of East Anglia, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.320778.
Full text
9
A, Volta. "Genetics of Familial Hypercholesterolemia: new diagnostic and research approaches." Doctoral thesis, Università di Siena, 2019. http://hdl.handle.net/11365/1071514.
Full textAbstract:
Introduction: Familial Hypercholesterolemia (FH, OMIM #143890) is an autosomal dominant disorder of lipoprotein metabolism characterized by high plasma levels of LDL cholesterol (LDL-C) with an estimated prevalence of 1 in 250 individuals in Western Europe. Lifelong exposure to elevated plasma levels of LDL-C leads to atherosclerosis at an early age, and as such FH patients are at a 2.2 to 25.8 fold higher risk for cardiovascular disease (CVD). FH is caused by genetic mutations that affect the structure and/or function of the LDL receptor (LDLR), a cell-surface receptor that removes LDL from the circulation. Variants in LDLR, APOB, and PCSK9 have been shown to result in clinical FH. To date, FH is an underdiagnosed and undertreated disease as exemplified by the fact that less than 1% of the worldwide familial hypercholesterolemia population is detected, diagnosed or treated according to current guidelines.
Aims: The primary aim was to promote a combined clinical and genetic approach for the diagnosis of FH in order to achieve a definitive and early diagnosis in patients, allow a prompt treatment and, thus, prevent the occurrence of CVD. Since a mutation in one of the three FH main genes is found in only 60-80% of patients with a definitive clinical diagnosis, the second aim of this PhD was to exploit genetic data, derived from the use of new DNA high-throughput sequencing (HTS) technologies, to find new molecular pathways (major or modifier genes) causing the disease. In particular, the possible association of genetic variants in ABCG5/ABCG8 and STAP1 with FH-like phenotype was investigated.
Methods and Results: Through a 55 genes targeted HTS, we set out a fast and cost-effective genetic screening for patients with a clinic suspect or a definite diagnosis of FH. In the first 2 years we analysed 32 patients and we were able to make a molecular definitive FH diagnosis in 14 of them. Our HTS design allowed also to obtain information about pharmacogenetics and genetic predisposition to other forms of dyslipidemia. The application of the 12 SNPs gene score in our FH cohort confirmed, as previously shown in literature, that the high LDL-C levels in FH patients could be due to an accumulation of several common genetic variants of small effect supporting the presence of the polygenic form of FH.
Through a lipid profiles evaluation in a big cohort of clinical FH patients and a co-segregation analysis in 4 FH families, it was then demonstrated that heterozygous variants in ABCG5/ABCG8 genes do not cause monogenic FH, although it cannot be ruled out that they can have a role in the regulation of serum cholesterol levels.
Lastly, the screening of plasma lipids and B cell profile of STAP1 variant carriers coupled with in vitro co-culture experiments allowed to demonstrate that variants in STAP1 are not associated with elevated LDL cholesterol in FH patients. Thus, in contrast to the previous literature findings, STAP1 cannot be considered the fourth FH gene.
Conclusions: This PhD thesis provides a large view on familial hypercholesterolemia, a disease with an ever higher estimated worldwide prevalence, and remarks the importance and feasibility of an
early diagnosis supported by a cost-effective genetics diagnosis approach to manage and prevent CVD. Indeed, genetics can definitely help to improve diagnosis efficiency and to quickly identify new patients within the families. Moreover, research of new genetic FH causes and the identification of novel molecular pathways causing the disease may be the groundwork to the development of novel and ever more safety and effective lipid lowering drugs.
10
Ratchford, Cynthia W. "A study of support for genetic research genetic services and education in genetics among African American social workers in metropolitan Atlanta." DigitalCommons@Robert W. Woodruff Library, Atlanta University Center, 2001. http://digitalcommons.auctr.edu/dissertations/2828.
Full textAbstract:
This study examined African American social workers' opinions about genetic research, genetic services, and education in genetics and selected factors associated with their opinions. Those factors were professional/work experience with clients with genetic issues; mass media exposure to genetic information: t.v., movies, newspapers, magazines; graduate social work course/unit in a course in genetics; personal/family experience with genetic issues; and gender.
There are no available studies on the readiness of African American social workers to practice in human genetic service delivery. This study was based on the premise that African American social workers' opinions about human genetics as a discipline would be an indicator of their readiness to practice in genetics.
Frequency analysis, crosstabulation and multiple regression were the statistics employed to analyze the data. The findings indicated that African American social workers were supportive of genetic services and education in genetics, but had mixed opinions about genetic research. Based upon these findings, African American social workers appear to be a group that is ready to fill a unique need for social work practitioners in genetics.
Mass media exposure to genetics and gender were the variables that were most associated with the African American social workers' opinions. Several of the independent variables had a slight relationship to the criterion variables. These relationships indicated an interplay of complex factors that were associated with African
American social workers' support for genetic research, genetic services and education in genetics. Those factors indicated that experience with or exposure to genetics may have influenced African American social workers to support genetics in general. It was recommended that graduate schools of social work and social work professional associations develop educational programming that focuses on exposing African American graduate social work students and social work practitioners to genetics. This study employed convenience sampling to maximize the participation of African American social workers and conclusions apply only to the study sample.
11
Goike, Helena M. "Genetic analysis of human astrocytic gliomas : xenografts as a research tool /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3805-9/.
Full text
12
Pollock, Lana Mary. "Identification and characterization of actin-regulatory proteins in the hair cell's cuticular plate." Case Western Reserve University School of Graduate Studies / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=case1448649914.
Full text
13
Hennessey, Rebecca Coral. "Optimized Mouse Models for the Discovery of Novel Targets and Testing of Melanoma Preventative Agents." The Ohio State University, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=osu1531389152704598.
Full text
14
Hare, Alexander. "A mitotic bookmark containing ubiquitin marks the promoters of active genes." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1587125230387468.
Full text
15
Lindak, Leah Kay. "A Survey to Explore the Perception of Genetic Counseling in Diverse Collegiate Populations." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1587144294784714.
Full text
16
Simpson, Luci N. "Cassette Systems for Creating Intergeneric Hybrid ATCases." Thesis, University of North Texas, 1999. https://digital.library.unt.edu/ark:/67531/metadc2237/.
Full textAbstract:
Cassette systems for creating intergeneric hybrid ATCases were constructed. An MluI restriction enzyme site was introduced at the carbamoylphosphate binding site within the pyrB genes of both Pseudomonas putida and Escherichia coli. Two hybrids, E. coli pyrB polar domain fused with P. putida pyrB equatorial domain and P. putida pyrB polar domain fused with E. coli pyrB equatorial domain, are possible. The intergeneric E. coli-P. putida hybrid pyrB gene was constructed and found to encode an active ATCase which complemented an E. coli Pyr- strain. These hybrids are useful for kinetic and expression studies of ATCase in E. coli.
17
Mbele, Mzwandile. "Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans." Doctoral thesis, University of Cape Town, 2014. http://hdl.handle.net/11427/18611.
Full textAbstract:
Introduction: Little is known about the molecular genetics of cardiomyopathy in Africans. Aims: to (I) determine the prevalence of desmosomal gene mutations in arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) in desmosomal protein genes (i.e., plakophilin 2, desmocollin 2, desmoglein 2, and plakoglobin), (2) establish the presence of a founder effect in families with a recurrent mutation in the plakophilin 2 (PKP2) gene, (3) investigate whether single nucleotide polymorphisms found in desmosomal genes affect gene expression, and (4) search for new candidate genes for ARVC in families where no causal mutation was found in desmosomal protein genes. Methods: 177 participants with cardiomyopathy were screened for desmosomal gene mutations which were confumed by Sanger sequencing. The following methods were used: in the founder effect study we used haplotyping with microsatellite markers; for total gene expression we used real time polymerase chain reaction and allelic expression imbalance and exome sequencing was used for mutation screening in two siblings with severe early onset ARVC. To all novel variants identified prediction tools were used to predict the pathogenicity of the variant in uestion. Results: 21.5% of ARVC pro bands had a disease-causing mutation in one of four desmosomal genes; no disease-causing mutation was found in the 112 OCM index cases. A recurrent PKP2 mutation occurred on a common haplotype background in four white South African probands with cardiomyopathy. Investigation of a common PKP2 polymorphism had no effect on total gene expression nor was there evidence of allelic expression imbalance. Finally, rare mutations were found in PARVA and HMGXB3 by exome sequencing of two siblings.
18
Penniket, Carolyn Renee. "Tissue-specific gene expression and promoter characterization in triticale." Thesis, Lethbridge, Alta. : University of Lethbridge, Dept. of Biological Sciences, c2013, 2013. http://hdl.handle.net/10133/3373.
Full textAbstract:
Triticale (x Triticosecale Whitm.) is a cereal with favorable agronomic traits for a Canadian bioproduction platform crop. Appropriate tissue sampling times were determined and gene expression profiles were evaluated in five triticale seed tissues and eleven vegetative tissues using the Affymetrix Wheat GeneChip®. Genes that were expressed, not expressed, tissue-specific, tissue-enriched and developmentally regulated were identified. The percentage of probe sets on the wheat GeneChip with gene ontology annotations was improved from less than 3% to over 76% using homologous sequence identification and annotation transfer. This information was used to determine functions and processes over-represented within the identified gene lists and provide biological meaning to the results. Expression of candidate genes was further evaluated using qRT-PCR, RNA in situ hybridization and promoter characterization. This study has provided a comprehensive triticale gene expression atlas; knowledge regarding triticale development, gene function, expression and regulation; and tools enabling further triticale research and development.xxiii, 425 leaves : col. ill. ; 29 cm
19
Balmer, Brian L. "Mutations in the research system? The Human Genome Mapping Project as science policy." Thesis, University of Sussex, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.358200.
Full textAbstract:
The way in which scientific research is conceived, organized and practiced in the context of shifting policies and institutional structures is the main focus of this thesis. The empirical component examines the development of the UK Human Genome Mapping Project (HGMP), the British contribution to the international plan to locate all of the genes in the human species. A comparative case-study examines the unsuccessful attem pts by Australian scientists to establish a national genome mapping initiative. Two main sets of research questions are posed. Why was the HGMP set up in the UK at the end of the 1980s when, prima facie, a number of factors suggested that an organized project would not be established? Allied to this question is the comparative one of how and why a project was successfully established in the UK but not in Australia? The second major question asks how policy subsequently developed for the UK programme: what factors shaped policy-making, what aspects of science did the programme shape? Drawing on recent developments in sociology of science and science policy studies, it is argued that in both Australia and the UK debates over whether to have a genome project, and the subsequent developments in UK policy towards the project, were not straightforward administrative choices. In both countries, the question of what was the best science to support was translated into debates over the best way to do science, what scientific knowledge was for and even what was to count as worthwhile knowledge. The implicit and explicit answers to those questions by various groups were embodied in policies and policy recommendations. The thesis concludes that differing expectations concerning the role of science had to be orchestrated together in order to mobilize, and subsequently maintain, support for gene mapping and sequencing.
20
Hu, Liang, and 胡亮. "Application of molecular cytogenetics techniques in cancer research." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B3014890X.
Full text
21
Goddard, Katrina Blouke. "Study design issues in the analysis of complex genetic traits /." Thesis, Connect to this title online; UW restricted, 1999. http://hdl.handle.net/1773/9565.
Full text
22
Efstathiou, Sophia. "The use of 'race' as a variable in biomedical research." Diss., [La Jolla] : University of California, San Diego, 2009. http://wwwlib.umi.com/cr/ucsd/fullcit?p3352326.
Full textAbstract:
Thesis (Ph. D.)--University of California, San Diego, 2009.Title from first page of PDF file (viewed May 8, 2009). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references (p. 240-245).
23
Dohle, Sarah. "Development of Resources for Lima Bean (Phaseolus lunatus ) Breeding and Genetics Research." Thesis, University of California, Davis, 2017. http://pqdtopen.proquest.com/#viewpdf?dispub=10607596.
Full textAbstract:
Lima bean (Phaseolus lunatus) is a semi-perennial, leguminous species characterized by large flat, crescent-moon-shaped pods and trifoliate leaves with generally vigorous growth habit. Lima bean is naturally distributed from the southern United States to northern Argentina, from sea level to over 2,700m and has been grown commercially in California since the late 1800’s. The objective of the University of California Davis Lima bean breeding program is to develop improved large and baby, bush- and vine-type dry bean varieties with lygus (L. hesperus) and nematode (M. incognita ) resistance and to develop breeding tools such as genetic maps and molecular markers linked to important traits to facilitate future breeding efforts. To broaden the genetic base of the California Lima bean breeding program and add novel sources of stress resistance, 313 exotic accessions of Lima beans were field-tested at UC Davis (38.54N, -121.79W). Only nine percent of accessions produced seed and were evaluated for a second season for yield and lygus tolerance relative to ‘UC Haskell’, a leading baby-vine cultivar. Ten accessions outperformed the check for either yield or insect damage and may be good candidates to incorporate into California breeding. To facilitate breeding and research at a genetic level, several tools were developed for this semi-orphan crop, including the first large Recombinant Inbred (RI) population (n ∼300) derived from California cultivars originating from the conspecific Mesoamerican and Andean gene pools which show transgressive segregation for most agronomic traits. Traits including flowering time, inflorescent position, plant height, pod position and pod density showed correlation with yield that varied with and without lygus pressure, indicating potential tolerance mechanisms, which should be studied in more depth. This population was used to create a genetic linkage map containing 515 SNPs spanning 1622 cM across 13 linkage groups with synteny to common bean. This genetic map in combination with two seasons of field phenotypic data were used for composite interval mapping of 27 QTLs for germination rate, plant height, seed weight, yield, flowering time, inflorescence position, growth habit, and hydrogen cyanide potential in Lima bean. Seven of the new Lima bean QTLs for flowering time, plant height and seed weight are in similar locations to common bean QTLs. This research has increased our scientific and agronomic knowledge of Lima bean, a semi-orphan crop that has potential for increased utilization in California and globally.
24
Figueira, Edwin C. Medical Sciences Faculty of Medicine UNSW. "???Stem Cell Pathway??? gene expression in human foetal limbus and cadaveric human limbal epithelium." Awarded by:University of New South Wales. School of Medical Sciences, 2006. http://handle.unsw.edu.au/1959.4/27455.
Full textAbstract:
Stem cells play a vital role in the turn over of permanently self-renewing tissues (e.g. corneal epithelium, epidermis, bone marrow). Stratified cornea epithelia serve, as ideal tissue models for studying ???stemness???, as the site of cells in the different stages of differentiation are anatomically easily identifiable. Studies targeting limbal stem cell maintenance, in-vitro gene expression during storage and differentiation will benefit future therapeutic applications (e.g. corneal transplantation). Knowledge of stem cell behaviour will help explain the pathophysiology of corneal related ocular surface disorders (e.g. idiopathic limbal stem cell deficiency, pterygium and limbal dermoids), establish new treatment modalities (e.g. allogenic cellular transplants) and help promote invivo expansion of residual stem cell populations in deficiency states. The major obstacle in the progress of research on limbal stem cells is the lack of knowledge of phenotypic markers of limbal epithelial stem cells. This project first studied the limbal expression of phenotypic markers that were discovered in other human adult and embryonic stem cell populations using microarray differential expression studies. Gene expression profiles of the relatively primitive human foetal limbus were compared with that of the central cornea. Microarray was also performed to identify the differential gene expression profile of cultured primary human limbal epithelial cells, when compared to the limbal epithelial cell population isolated after 5 serial cultures. 33 genes were upregulated in the human foetal limbus and primary cultured human limbal epithelium, when compared respectively to the central foetal cornea (first experiment) and the limbal epithelial cell population after the 5th trypsin passaged culture (second experiment). Four foetal limbal and primary limbal epithelial upregulated genes (CK15, CK14, Cdh3, and Wnt4) were confirmed to be upregulated by semi quantitative RT-PCR and immunohistochemical experiments on the human foetal cornea, adult human cadaveric cornea and cultured human limbal epithelial cells. The microarray defined phenotypic profile of both the foetal limbus and cultured adult limbal epithelial cells will help identify these cells in in-vitro and in-vivo states. The expression of these 4 selected markers in the limbal dermoid and pterygium suggests that limbal epithelial cells containing a stem cell population are involved in the pathogenesis of these two disorders.
25
Marshall, Jennifer. "The development of contemporary medical genetics research models and the need for scientific responsibility /." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=82289.
Full textAbstract:
Current medical genetics research is dominated by a single theory that supports the Human Genome Project rationale. This thesis investigates this and several alternative hypotheses and the ethical context related to their development. Firstly, the hypotheses are discussed in detail followed by a subsection in which research evidence based on each hypothesis is cited. Secondly, these medical genetics hypotheses are situated within the contemporary medical paradigm. To conclude, the thesis examines in depth the ethical and practical implications of medical genetics research. A framework of analysis of scientific responsibility is used to explore these implications. Scientific responsibility, as presented in this thesis, is a process consisting of three steps: (1) scientific discourse; (2) the development of the nature of scientific responsibility; and, (3) effective criticism. Once scientific responsibility is defined, the term is applied specifically to the field of medical genetics research.
26
Ciciotte, Steven. "Characterization of CRE Recombinase Expression in Erythroid Tissues of Transgenic Mice." Fogler Library, University of Maine, 2005. http://www.library.umaine.edu/theses/pdf/CiciotteS2005.pdf.
Full text
27
Tiwari, Shashank Shekhar. "The ethics and governance of stem cell clinical research in India." Thesis, University of Nottingham, 2013. http://eprints.nottingham.ac.uk/14585/.
Full textAbstract:
India is rapidly becoming established as a major player in the stem cell sector. However, concerns have been raised about the use of unproven stem cell therapies and the exploitation of parents for cord blood banking. This study aims to explore the nature of stem cell activities, how key stakeholders generate expectations around them and frame the ethical issues they raise, and why the biomedical governance system is unable to regulate these emerging practices. The study involved a survey, documentary analysis and qualitative interviews with key scientists, clinicians, representatives of firms and policymakers. The thesis observes that, unlike international commentaries which largely focus on embryonic stem cell treatments, in India it is adult and cord blood stem cells which are dominant in research and clinical settings. Expectations are configured on the basis that stem cells have the potential to: solve the problem of organ shortage; help patients with ailments; provide affordable health care; and establish India as a global player. The creation of expectations is ethically problematic given the potential health risks and economic exploitation of both native and international patients. However, the ethically contested activities are justified by clinicians on the basis that the Helsinki Declaration allows to use an experimental therapy; there are many 'desperate patients' demanding these treatments; and adult stem cells are safe. To date, the government of India appears to be unable to prevent these activities. Contrary to suggestions in previous literature and by some informants that new legislation is needed to address the problem, this thesis finds that state-led mechanisms for biomedical governance lack the ability to implement existing oversight measures. This implementation gap is partly because other forms of governance are not strong enough and partly because there are high expectations at state level aimed at establishing India as a global player in the stem cell sector.
28
Wyeth, Emma Hana, and 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.
Full textAbstract:
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.
29
Vadnal, Jonathan. "Epigenetic Mechanisms in Neurodegenerative Disease." Kent State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=kent1353955013.
Full text
30
Yu, Jingting. "Methods to Evaluate the Effects of Chromatin Organization in eQTL Mapping and the Effects of Design Factors in Cancer Single-cell Studies." Case Western Reserve University School of Graduate Studies / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1554463507829716.
Full text
31
Ashraf, Usman Mohammad. "Novel Regulators of Kidney Homeostasis and Blood Pressure Regulation." University of Toledo Health Science Campus / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=mco1596206028212986.
Full text
32
Ferguson, James. "THE SPATIAL AND TEMPORAL ROLE OF EZH2 IN SKULL BONE FORMATION." Case Western Reserve University School of Graduate Studies / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=case1530898825341447.
Full text
33
Willoughby, Douglas. "Screening the IRRI mutant rice population for mutations that have altered the structure of endosperm starch." Thesis, The University of Sydney, 2008. https://hdl.handle.net/2123/29179.
Full textAbstract:
The International Rice Research Institute (IRRI) maintains a population of mutants based on IR64 one of the most popular varieties throughout Asia. The popularity of IR64 is due to its quality. IR64 is a low yielding relative to newer varieties, and its yield is further compromised by its susceptibility to many biotic stresses. Nevertheless, it has maintained its fame because the grain it produces is of very high quality, and it is difficult to capture this in higher-yielding backgrounds. IR64 produces long, slender, translucent grains, it has intermediate amylase and gelatinisation temperature, and it does not become firm on cooling. These are the traits that are valued by almost every consumer and trader of indica rice.
The key to understanding the quality of IR64, and genetic factors of intermediate amylase and gelatinisation temperature will be to find the genes that confer that quality and develop ways to select for them. The mutant population provides an excellent resource to achieve this. Unravelling genetic processes defining the quality of IR64 is useful to rice improvement programs around the world, since all select for different metrics of the same traits of quality, and many select for intermediate amylase and gelatinisation temperature.
The aims of this project are to (i) screen a subset of the collection of IR64 mutants to determine the structures of starch that associate with the quality of IR64; (ii) identify candidate genes that synthesise directly, or indirectly, the particular structures of starch; and (iii) search for allelic variation in the genes that could explain the phenotype of the mutation.
One IR64 mutant was found with decreased amylase content and gelatinisation temperature, and other cooking properties were significantly different from the IR64 wildtype. The mutant was severely depleted in the long chains of amylase that leach out of the granule in hot water, and was depleted in the long chains of amylopectin that strengthen the molecule by spanning several clusters. Differences in amylase and amylopectin between the various phenotypes of the mutant studied and the wildtype suggest that this mutant carries a mutation in two genes. Candidates for each phenotype are granule bound starch synthase (GBSSI) and starch synthase Illa (SSIIIa). The conserved region of SSIIIa, and exon 2 of GBSSI, where transcription begins, did not carry any mutation, but other regions of each gene were not genotyped. Paradoxically, a high level of GBSSI protein accumulated in the mutant. The other starch synthases are post-translationally regulated by starch phosphorylase. Starch phosphorylase could also be involved in post-translational regulation of GBSSI and SSIIIa activity. In the mutant, starch phosphorylase was found in the soluble fraction, along with many other granule proteins, but it and the other proteins were absent from the soluble fraction of granule proteins, thus the mutation could reside in a gene encoding a protein that regulates the activity of these two starch synthases, both of which elongate relatively long chains on their respective molecules. This mutation changes eating quality enormously, and the structural studies here demonstrate the huge effect of long chains of amylase and long chains of amylopectin on the excellent quality of IR64.
34
Ramasamy, Adaikalavan. "Increasing statistical power and generalizability in genomics microarray research." Thesis, University of Oxford, 2009. http://ora.ox.ac.uk/objects/uuid:81ccede7-a268-4c7a-9bf8-a2b68634846d.
Full textAbstract:
The high-throughput technologies developed in the last decade have revolutionized the speed of data accumulation in the life sciences. As a result we have very rich and complex data that holds great promise to solving many complex biological questions. One such technology that is very well established and widespread is DNA microarrays, which allows one to simultaneously measure the expression levels of tens of thousands of genes in a biological tissue. This thesis aims to contribute to the development of statistics that allow the end users to obtain robust and meaningful results from DNA microarrays for further investigation. The methodology, implementation and pragmatic issues of two important and related topics – sample size estimations for designing new studies and meta-analysis of existing studies – are presented here to achieve this aim. Real life case studies and guided steps are also given. Sample size estimation is important at the design stage to ensure a study has sufficient statistical power to address the stated objective given the financial constraints. The commonly used formula for estimating the number of biological samples, its short-comings and potential amelioration are discussed. The optimal number of biological samples and number of measurements per sample that minimizes the cost is also presented. Meta-analysis or the synthesis of information from existing studies is very attractive because it can increase the statistical power by making comprehensive and inexpensive use of available information. Furthermore, one can also easily test the generalizability of findings (i.e. the extent of results from a particular valid study can be applied to other circumstances). The key issues in conducting a meta-analysis for microarrays studies, a checklist and R codes are presented here. Finally, the poor availability of raw data in microarray studies is discussed here with recommendations for authors, journal editors and funding bodies. Good availability of data is important for meta-analysis in order to avoid biased results and for sample size estimation.
35
Acan, Sinan Can. "Genetic Diversity Of Sheep Breeds Focusing On Conservation Research In Turkey." Phd thesis, METU, 2012. http://etd.lib.metu.edu.tr/upload/12614257/index.pdf.
Full textAbstract:
In the first part of the present study, samples of 13 native Turkish sheep
breeds (n=628) were examined, individually and comparatively, with respect
to their 19 microsatellite loci to characterize them by employing various
statistical analyses. Low FST values, high mean number of alleles and allelic
richness as well as results of Factorial Correspondence Analysis and
Structure analyses showed the degree of admixture between native sheep
breeds of Turkey, IVE and SAK were observed as the most distincts of the
breeds and possible introgressions were detected in other breeds. The 2-
BAD, a software to examine the admixtures, was employed to estimate the
time of the admixtures and the MSVAR software was employed to detect
past demographic histories. In the second part, evaluations based on their
genetic characteristics were made in relation to their prioritization in
conservation studies. By employing four different approaches, it has been
concluded that IVE, SAK, KRY, KIV, HEM and breed from Central Anatolia
should be included in a conservation program for the preservation of
optimum genetic diversity. In the last part of the thesis breeds were also
characterized with respect to their relative risk of extinctions and their merits,
which were used to estimate the utilities of the breeds. Non-genetic factors,
collected based on the existing literature and surveys throughthe
questionnaires filled by the field specialists, were incorporated into genetic
factors to estimate the utilities of the breeds under different scenarios. In this
approach, it is concluded that NOR, AKK, SAK, IVE and HEM should be
included in the conserved set of breeds.
By the present study, it is believed that specific genetic features of the native
Turkish sheep breeds were documented, effects of sampling on the
population genetic studies was discussed, the need for a reliable data
(genetic and nongenetic, for characterizing the risks and merits of the
breeds) for the prioritization of the breeds in the long term sustainable
conservation ofthem was emphasized.
36
Coşkun, Rebekah, and Rebekah Coşkun. "A Novel Mixed-Methods Approach to Examine the Complexities of Reproductive Genetics Decision-Making from the Perspectives of Women and Genetic Counselors." Diss., The University of Arizona, 2017. http://hdl.handle.net/10150/625612.
Full textAbstract:
Background: This mixed-methods dissertation is multi-layered and exploratory in nature. It provides methodological contributions to the fields of evaluation and research methods by demonstrating how the root cause analysis (RCA) method can be utilized to evaluate program improvement and assist in the development of research questions and hypotheses. Additionally, it adds to the literature on reproductive genetics decision-making by contributing to the knowledge of this complex process. Research Aims: This dissertation includes the following three aims: 1) to illustrate how the RCA interview method can be a useful tool to improve programs that have not been implemented with fidelity; 2) to demonstrate how the RCA interview method can be adapted for research by elucidating research questions and hypothesis development processes; and 3) to glean information pertaining to reproductive genetics decision-making knowledge, attitudes, and behaviors among genetic counselors and women who were pregnant and had reproductive genetic counseling. Methods: Mixed-methods research took place over a 13-month period in Arizona and across the U.S. between June 2015 and August 2016 among two separate groups. The qualitative research includes semi-structured, in-depth interviews with genetic counselors (n=22), and RCA interviews (n=9) with genetic counselors sampled from 12 southwestern and western states. The quantitative research comprised of piloting two survey instruments. Survey #1 for genetic counselors (n=22) and Survey #2 for women who had genetic counseling and were pregnant between January 1, 2005 and December 31, 2015 (n=104). Results: The results by manuscript are: 1) RCA is a useful evaluation tool for evaluating program improvement when programs have not been implemented with fidelity; 2) RCA is a beneficial methodological approach for researchers for focusing areas of inquiry, generating research questions, and developing research hypotheses; and 3) Women with a master's degree or higher are more likely to have reproductive genetic testing than women with a bachelor’s degree or under. Women who received reproductive genetic testing had significantly higher genetic testing knowledge scores than women who did not have genetic testing. Women who held a master's degree or higher had significantly higher genetic testing knowledge scores than women with a bachelor’s degree or under. Conclusions: RCA is a flexible and adaptive tool that works well for evaluation and research purposes. Reproductive genetic testing is a complex field that is rapidly changing, and there are significant differences in knowledge among women facing testing decisions calling for tailored interventions around genetic testing literacy. Recommendations: Evaluators and researchers alike should be aware of RCA as a useful methodological tool that they can use to help evaluate program improvement as well as facilitate the process of developing research questions and hypotheses. Genetic literacy interventions and decision-making resources must take into consideration the role education has on genetic testing decisions as well as its part in understanding the appropriateness, benefits, and limitations of specific genetic tests. This research further advocates for women to have access to certified genetic counselors to tailor the information to meet the individuals' needs in order to promote informed, autonomous genetics decision-making.
37
Parnell, Nicholas Francis. "The generation and maintenance of diversity in a rapid adaptive radiation." Diss., Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/42743.
Full textAbstract:
The Lake Malawi cichlid fishes are a pre-eminent example of adaptive evolutionary radiation. The diversity of species (nearly 1000 extant) is mirrored by an array of variation in dozens of phenotypes (e.g. trophic morphology, tooth shape, color patterns, behavior, development). The unique characteristics of this system have produced unparalleled diversity with very little genetic differentiation between species. This dissertation is composed of four studies addressing different aspects of the variation in the LM cichlids and the mechanisms generating and maintaining this level of diversity at multiple biological levels.
Community-level diversity is investigated using null model analysis of species co-occurrence data. We detect signals of non-random community assembly at only the broadest and finest spatial scales. Based on the unique ecological and evolutionary characteristics of this assemblage we suggest that different mechanisms are responsible for these patterns. A core‟ group of species is posited to act as a foundation on which these diverse communities are created as a result of fine-scale species interactions. We identify both positive and negative depth-based correlations between species and suggest these interactions play an important role in species diversity in these fish.
The Lake Malawi cichlids exhibit an array of trophic morphologies which may play a role in the fine-scale species interactions described in chapter one. In the second chapter we build a genetic model to predict the evolution of jaw morphology and a complex functional jaw trait. We use a complex biomechanical system, the 4-bar jaw linkage, to simulate trait evolution during interspecific hybridizations. We find rampant transgression (trait values beyond parental distributions) in jaw function in a large proportion of potential crosses. This result is characterized by a lack of novel morphological components but rather is the result of recombinations of existing component traits thus producing functional novelty. In the third chapter we create a laboratory cross of one of the parental combinations suggested from the genetic model. The results of this study serve as a proof of principle to the simulations as we observe a large proportion of transgressive 4-bar function in the F2. As predicted this diversity is produced in the absence of transgressive morphology. We contrast these results between this complex system and data generated from several simple jaw lever traits and report differences in the patterns. Using quantitative trait locus (QTL) mapping approaches we examine the genetic basis for complex and simple jaw traits and discuss correlative patterns within and between systems.
Finally we examine the genetic architecture of sex-determination and color morphs in this hybrid cross. We find both ZW and XY sex systems segregating as well as linkage to sex-specific color patterns. Several loci and epistatic interactions are associated with sex-determination and color morphs in this cross. The orange-blotch (OB) color is found associated with ZW as predicted from previous work but a previously undescribed (in these species) male nuptial color (blue) is found associated with both ZW and XY genetic systems as well as other loci segregating for sex-determination. These results are discussed in the context of models of sex chromosome evolution as a result of sexual conflict and the potential importance of sexual selection in the diversification of Lake Malawi cichlids.
Overall we observe various mechanisms generating and maintaining diversity at different levels of biological organization. We use community co-occurrence analyses, genetic simulation, and QTL analysis of an F2 hybrid population to examine these mechanisms in this rapidly radiating assemblage. These results bolster our understanding of the origins of diversity and the interplay between variation and aspects of evolution in all biological systems.
38
Adlan, Abdallah Adlan Awad. "The biomedical ethics of donating blood for molecular and genetics research in Saudi Arabia." Thesis, University of Birmingham, 2015. http://etheses.bham.ac.uk//id/eprint/6085/.
Full textAbstract:
My main thesis is that Saudi culture, in the context of the field of Molecular Genetics Epidemiology (MGE) research, poses many challenges to the currently used biomedical research regulations developed by the Saudi National Committee of Bioethics (NCBE). The NCBE regulations are informed by selected international research ethics guidelines, and they are influenced by a set of assumptions about how we ought to think about ethics. The overall focus is on a version of liberalism, where there is a strong commitment to autonomy, there is a significant focus on informed consent, the harm principle guides the justification of action, and paternalism is seen as something that is to be avoided. There are no specific guidelines that regulate MGE research in Saudi Arabia. Therefore, it was important as a first step in the thesis to analyse the relevant regulations (both the Saudi and the selected international ones) and explore the related normative issues. One of the main empirical findings was an observed and reported lack of adherence to the requirements of the NCBE regulations. In this thesis I argued that the problem emerges from a mismatch between the liberal international guidelines and the nature of the Saudi context. One possible way to address this tension is to formulate a set of guidelines and research practices that build upon the nature of Saudi social relations and norms. This may result in a focus on what we can call trust-based, rather than the currently promoted autonomy-based, bioethics.
39
Waters, Victoria Hannah. "The chicken chemokine repertoire." Thesis, Royal Veterinary College (University of London), 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.572437.
Full text
40
Lipworth, Wendy Louise. "Reconfiguring tissue banking consent through enrichment of a restricted debate." University of Sydney. History and Philosophy of Science, 2005. http://hdl.handle.net/2123/683.
Full textAbstract:
Tissue banks are thought to be an essential resource for medical research in the post-genomic age. Collections of tissue, usually removed in the course of diagnostic or therapeutic procedures, enable laboratory-based epidemiological studies to be carried out, linking abnormalities in the tissue to disease aetiology, prognosis and treatment responsiveness. There are, however, a number of technical, regulatory and ethical concerns that challenge those wishing to engage in tissue banking research. It is becoming increasingly apparent that tissue banking research is not without risk of harms, even though there is no direct physical risk to donors. This is because, in order to be most useful, banked specimens need to be linked to personal information about tissue donors and this poses the risk of inadvertent disclosure of personal─ particularly genetic─ information to those who might exploit such information (eg. insurance companies and employers). Furthermore, the long-term storage of specimens, and the impossibility of predicting all potential types of research programs for which they might be useful, raises the possibility that future projects will be carried out that are unacceptable to some (past) tissue donors. The ethical principles of autonomy and respect for persons demand that research subjects be informed of such risks and of the nature of the research, and that they participate willingly. On the other hand, there is a desire for science to progress unhindered by stringent consent requirements. For these reasons, a debate has emerged in the academic (bioethical and biomedical) literature and in the legal (law reform) sphere over what would constitute adequate consent. Despite an extensive discourse, it is still unclear whether it is permissible to carry out research on archival tissue that was originally taken for diagnostic purposes and whether project-specific (as opposed to open-ended) consent is required for research on tissue collected today. This lack of clarity is of concern to researchers, ethics committees and research subjects, all of whom recognise the importance of tissue banking research, yet fear that current consent procedures may be ethically or legally inadequate. Thus it is important that the consent dilemma be resolved as quickly and definitively as possible. Ongoing controversy and regulatory ambiguity are appropriate when morally contentious issues are at stake, and their existence does not, on its own, signal any flaws in the discourse process. There are, however, two reasons to suspect that the current �consent to tissue banking� debate, as portrayed in the academic literature and law reform documentation, is problematic. Firstly, the debate appears to be mired in an intractable conflict between those who want to maximise personal autonomy through stringent consent requirements, and those who want the scientific endeavour to progress in a manner that is unconstrained by what are viewed as arduous consent procedures. Secondly, the possible practical options (consent models) being generated by the debate are all limited because they are underpinned by a restricted notion of consent as an individualistic, legalistic and static activity, without consideration of any alternative conceptualisations of consent. Through a thematic analysis of the current �consent to tissue banking� debate in the academic and law reform literature (Section 3), this thesis shows that debate is essentially occurring between those who see individual autonomy (and stringent consent) as being of primary importance, and those who see unimpeded, market-driven scientific progress as the more important social good, which should not be impeded by unnecessarily stringent consent. Thematic analysis also confirms the existence of the two problems described above, and a failure of those engaged in the debate to reflect on, and challenge, the value-level assumptions underpinning their arguments and those of their opponents. It is argued that this lack of reflection accounts for the two problems: � Firstly, it precludes recognition of the cause of─ and, therefore, ways of resolving─ the intractable conflict at the centre of the debate. Value-level reflection shows that this is a result of the logical and moral conflict within western liberalism, between two modernist goods: individual freedom and scientific progress. � Secondly, it precludes the generation of varied conceptions of consent. Value-level reflection shows that the current range of consent models is restricted to procedures which are individualistic, abstract, static and legalistic, since they are underpinned by western liberal notions of autonomy and scientific progress. This recognition paves the way to consideration of alternative notions of autonomy, scientific progress and, therefore, consent, such as those derived from communitarian and feminist systems of values. A conceptually enriched model of tissue banking consent is then developed (Section 4). This model incorporates dominant (liberal) conceptions of autonomy and scientific progress as well as alternative notions of autonomy and scientific progress espoused by communitarian and feminist systems of values. It is argued that this conceptually-enriched model provides a practical solution to the two problems associated with the standard �consent to tissue banking� debate. In relation to the philosophically intractable conflict─ or what is termed the �modernist dilemma�─ between those privileging autonomy and those privileging scientific progress, it shows how the two apparently conflicting �modernist� goods can both be accommodated at a practical level, thus making the �consent to tissue banking� debate more tractable and fruitful. In relation to the restricted range of consent models being generated by the current debate, it provides new insights into the ways in which consent might be obtained such that a broader range of community values can be accommodated. More specifically, it stimulates the construction of a model that 1) involves communities, as opposed to merely individuals, in all stages of the scientific process; 2) is flexible and able to adapt consent procedures to specific contexts, rather than predefining procedures in abstract terms; and 3) is transactional and relational rather than static and legalistic. This outcome has interesting philosophical as well as practical implications. It shows that despite apparently unresolved, and possibly irresolvable, normative-level conflicts between the two modernist elements of western liberalism (autonomy and scientific progress), and between liberal, feminist and communitarian systems of values, a multi-perspectival, inclusive, model-building approach provides a practical solution that circumvents these normative-level conflicts.
41
Lipworth, W. "Reconfiguring tissue banking consent through enrichment of a restricted debate." Thesis, The University of Sydney, 2005. http://hdl.handle.net/2123/683.
Full textAbstract:
Tissue banks are thought to be an essential resource for medical research in the post-genomic age. Collections of tissue, usually removed in the course of diagnostic or therapeutic procedures, enable laboratory-based epidemiological studies to be carried out, linking abnormalities in the tissue to disease aetiology, prognosis and treatment responsiveness. There are, however, a number of technical, regulatory and ethical concerns that challenge those wishing to engage in tissue banking research. It is becoming increasingly apparent that tissue banking research is not without risk of harms, even though there is no direct physical risk to donors. This is because, in order to be most useful, banked specimens need to be linked to personal information about tissue donors and this poses the risk of inadvertent disclosure of personal─ particularly genetic─ information to those who might exploit such information (eg. insurance companies and employers). Furthermore, the long-term storage of specimens, and the impossibility of predicting all potential types of research programs for which they might be useful, raises the possibility that future projects will be carried out that are unacceptable to some (past) tissue donors. The ethical principles of autonomy and respect for persons demand that research subjects be informed of such risks and of the nature of the research, and that they participate willingly. On the other hand, there is a desire for science to progress unhindered by stringent consent requirements. For these reasons, a debate has emerged in the academic (bioethical and biomedical) literature and in the legal (law reform) sphere over what would constitute adequate consent. Despite an extensive discourse, it is still unclear whether it is permissible to carry out research on archival tissue that was originally taken for diagnostic purposes and whether project-specific (as opposed to open-ended) consent is required for research on tissue collected today. This lack of clarity is of concern to researchers, ethics committees and research subjects, all of whom recognise the importance of tissue banking research, yet fear that current consent procedures may be ethically or legally inadequate. Thus it is important that the consent dilemma be resolved as quickly and definitively as possible. Ongoing controversy and regulatory ambiguity are appropriate when morally contentious issues are at stake, and their existence does not, on its own, signal any flaws in the discourse process. There are, however, two reasons to suspect that the current 'consent to tissue banking' debate, as portrayed in the academic literature and law reform documentation, is problematic. Firstly, the debate appears to be mired in an intractable conflict between those who want to maximise personal autonomy through stringent consent requirements, and those who want the scientific endeavour to progress in a manner that is unconstrained by what are viewed as arduous consent procedures. Secondly, the possible practical options (consent models) being generated by the debate are all limited because they are underpinned by a restricted notion of consent as an individualistic, legalistic and static activity, without consideration of any alternative conceptualisations of consent. Through a thematic analysis of the current 'consent to tissue banking' debate in the academic and law reform literature (Section 3), this thesis shows that debate is essentially occurring between those who see individual autonomy (and stringent consent) as being of primary importance, and those who see unimpeded, market-driven scientific progress as the more important social good, which should not be impeded by unnecessarily stringent consent. Thematic analysis also confirms the existence of the two problems described above, and a failure of those engaged in the debate to reflect on, and challenge, the value-level assumptions underpinning their arguments and those of their opponents. It is argued that this lack of reflection accounts for the two problems: • Firstly, it precludes recognition of the cause of─ and, therefore, ways of resolving─ the intractable conflict at the centre of the debate. Value-level reflection shows that this is a result of the logical and moral conflict within western liberalism, between two modernist goods: individual freedom and scientific progress. • Secondly, it precludes the generation of varied conceptions of consent. Value-level reflection shows that the current range of consent models is restricted to procedures which are individualistic, abstract, static and legalistic, since they are underpinned by western liberal notions of autonomy and scientific progress. This recognition paves the way to consideration of alternative notions of autonomy, scientific progress and, therefore, consent, such as those derived from communitarian and feminist systems of values. A conceptually enriched model of tissue banking consent is then developed (Section 4). This model incorporates dominant (liberal) conceptions of autonomy and scientific progress as well as alternative notions of autonomy and scientific progress espoused by communitarian and feminist systems of values. It is argued that this conceptually-enriched model provides a practical solution to the two problems associated with the standard 'consent to tissue banking' debate. In relation to the philosophically intractable conflict─ or what is termed the 'modernist dilemma'─ between those privileging autonomy and those privileging scientific progress, it shows how the two apparently conflicting 'modernist' goods can both be accommodated at a practical level, thus making the 'consent to tissue banking' debate more tractable and fruitful. In relation to the restricted range of consent models being generated by the current debate, it provides new insights into the ways in which consent might be obtained such that a broader range of community values can be accommodated. More specifically, it stimulates the construction of a model that 1) involves communities, as opposed to merely individuals, in all stages of the scientific process; 2) is flexible and able to adapt consent procedures to specific contexts, rather than predefining procedures in abstract terms; and 3) is transactional and relational rather than static and legalistic. This outcome has interesting philosophical as well as practical implications. It shows that despite apparently unresolved, and possibly irresolvable, normative-level conflicts between the two modernist elements of western liberalism (autonomy and scientific progress), and between liberal, feminist and communitarian systems of values, a multi-perspectival, inclusive, model-building approach provides a practical solution that circumvents these normative-level conflicts.
42
Idleburg, Michaela. "Assessment of a Video on Genome Testing Expectations and Results: Parent and Adolescent Views and Understanding." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525171341700198.
Full text
43
Leichsenring, Falk, Jürgen Hoyer, Manfred Beutel, Sabine Herpertz, Wolfgang Hiller, Eva Irle, Peter Joraschky, et al. "The Social Phobia Psychotherapy Research Network." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-133684.
Full textAbstract:
This paper presents the Social Phobia Psychotherapy Research Network. The research program encompasses a coordinated group of studies adopting a standard protocol and an agreed-on set of standardized measures for the assessment and treatment of social phobia (SP). In the central project (study A), a multicenter randomized controlled trial, refined models of manualized cognitive-behavioral therapy and manualized short-term psychodynamic psychotherapy are compared in the treatment of SP. A sample of 512 outpatients will be randomized to either cognitive-behavioral therapy, short-term psychodynamic psychotherapy or waiting list. Assessments will be made at baseline, at the end of treatment and 6 and 12 months after the end of treatment. For quality assurance and treatment integrity, a specific project using highly elaborated measures has been established (project Q). Study A is complemented by 4 interrelated add-on projects focusing on attachment style (study B1), on cost-effectiveness (study B2), on variation in the serotonin transporter gene in SP (study C1) and on structural and functional deviations of the hippocampus and amygdala (study C2). Thus, the Social Phobia Psychotherapy Research Network program enables a highly interdisciplinary research into SP. The unique sample size achieved by the multicenter approach allows for studies of subgroups (e.g. comorbid disorders, isolated vs. generalized SP), of responders and nonresponders of each treatment approach, for generalization of results and for a sufficient power to detect differences between treatments. Psychological and biological parameters will be related to treatment outcome, and variables for differential treatment indication will be gained. Thus, the results provided by the network may have an important impact on the treatment of SP and on the development of treatment guidelines for SPDieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich
44
Othman, Rashidi. "Biochemistry and genetics of carotenoid composition in potato tubers." Diss., Lincoln University, 2009. http://hdl.handle.net/10182/1336.
Full textAbstract:
Potato cultivars exhibit a wide variation in skin and flesh colour due to the presence of pigments. This study established that potato cultivars differ greatly with respect to types and concentrations of carotenoids in tubers. A total of 46 cultivars were evaluated for quantitative and qualitative carotenoid composition in different growing seasons, locations, storage conditions and disease symptoms. Factors controlling carotenoid accumulation were also tested by developing an in vitro minituber system as a new high-throughput model system for carotenogenesis in potato tubers. Tuber flesh colour was found to correlate with total carotenoid content in potato cultivars grown in both New Zealand and Netherlands. The main carotenoids identified in 32 potato cultivars in New Zealand were lutein, neoxanthin, violaxanthin and β-carotene. The ratio of these carotenoids varies between cultivars. Neoxanthin was detected in only 13 cultivars (10.59 to 69.21µg/g DW); violaxanthin was found only in 1 cultivar (32.76 µg/g DW). Whereas lutein and β-carotene were found in most of the cultivars but the concentration varied from (0.00 to 160.63 µg/g DW) and (0.00 to 13.62 µg/g DW) respectively. The main carotenoids identified in 12 cultivars grown in the Netherlands were neoxanthin, violaxanthin and lutein, whereas zeaxanthin was not found in any of the cultivars analysed. Marked differences were observed between the same potato cultivars grown in New Zealand and the Netherlands. Therefore cultivars were analysed over a second growing season to assess stability in carotenoids composition. The carotenoid profiles of the potato tubers grown for two different seasons showed highly significant differences between the cultivars, the seasons, the carotenoid pigments, and all combinations of interactions, indicating the complex nature of factors influencing carotenoid composition. Reflectance colorimeter measurement of yellow hue component in this study confirmed that the higher the total carotenoid content, the greater the yellow intensity colour. Eight cultivars were grown at three locations in New Zealand and Agria and Desiree were grown at eight locations in the Netherlands to further investigate the stability of carotenoid composition. Highly significant differences were observed between the cultivars, the locations, the carotenoid pigments, and all combinations of interactions, which emphasises that changes in carotenoid composition are complex and the responses are not consistent across cultivars. Reflectance colorimeter measurement of yellow hue component confirmed the relationship between the yellow colour intensity of tuber flesh, as well as confirming the interaction between colour and locations. Disease and post harvest storage conditions markedly influenced the levels of total carotenoid, neoxanthin, violaxanthin, zeaxanthin, lutein and β-carotene in potatoes. The magnitude of these effects depends on the cultivar, time of storage, and the intensity of powdery scab symptoms. Results showed that long term storage resulted in the accumulation of neoxanthin, violaxanthin and zeaxanthin with a concomitant decreased of lutein, β-carotene and total carotenoid content. Genotypes infected with disease (lower and higher scab score) resulted in accumulation of violaxanthin, β-carotene and total carotenoid with a concomitant decreased in neoxanthin and lutein. A high-throughput model system for investigating carotenoid biogenesis in potato tubers was developed. This involved in vitro potato minitubers and was validated by assessing the effects of environmental variables, such as drought stress, light intensity and nutrient availability on carotenoid accumulation. Light influenced the presence of zeaxanthin, whereas water stress and nutrient strength influenced the accumulation of neoxanthin and violaxanthin. Although these factors had an effect on the carotenoid content and profile, the most influential factor appeared to be cultivar selection.
45
Lumbye, Mira Anna Beatrice. "Settlement and Interactions in Pacific Prehistory : An Overview of Modern Genetic Research." Thesis, Uppsala universitet, Arkeologi, 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-453506.
Full textAbstract:
The Pacific is the part of the world that was last settled by humans. The colonization occurred in different stages which can be discerned through various methods, one of them DNA analysis of humans as well as other species of animals and plants associated with human settlement. The direction of human migration is traditionally believed to have taken a west-eastern direction, originating in the area near Taiwan and spreading eastward until reaching the islands of Remote Oceania. However, there are also strong indications of an east-western route of interaction, with recent DNA studies confirming prehistoric human contact between South American and Polynesian peoples. The aim of this paper is to investigate the current research on human settlement of the Pacific focusing on the genetic analyses of humans as well as animals and plants believed to have accompanied the human settlers. It is to be hoped that this research survey will shed new light on the subject of geographical origins of Pacific migration and the early interactions and settlement patterns that ensued.Oceanien blev den sista världsdelen att befolkas av människan. Koloniseringen ägde rum i flera steg som kan studeras med olika metoder, däribland DNA-analys av människor samt andra arter av djur och växter vilka förknippas med mänsklig migration. Kolonisationen av Stilla Havet gick enligt den vedertagna forskningen i en väst-östlig riktning, med utgångspunkt från området kring Taiwan och vidare österut till Bortre Oceanien. Det finns emellertid även starka indikationer på öst-västliga interaktioner mellan polynesier och sydamerikansk ursprungsbefolkning. Syftet med denna uppsats är att undersöka det aktuella forskningsläget med fokus på genetiska analyser av människor såväl som av de djur och växter som tros ha följt människorna. Förhoppningen är att denna forskningsöversikt ska kasta nytt ljus över frågan om det geografiska ursprunget för den oceaniska expansionen och de tidiga migrationsmönster och interaktioner den gav upphov till.
46
Bangham, Jenny. "Blood groups and the rise of human genetics in mid-twentieth century Britain." Thesis, University of Cambridge, 2014. https://www.repository.cam.ac.uk/handle/1810/265573.
Full textAbstract:
This dissertation reconstructs how blood groups were made into pre-eminent objects of human genetic research and powerful markers for producing human biological difference. By tracing the ways in which three British laboratories became international centres for blood-group genetic research, it also offers an expanded history of postwar human genetics. In early 1930s Britain a community of geneticists, including R.A. Fisher and B.S. Haldane, promoted blood groups as having the potential to give the study of human heredity 'a solidly objective foundation, under strict statistical control'. Fisher and colleagues at the Cambridge Galton Serum Unit- especially Robert Race and Arthur Mourant- implemented this vision, the dissertation shows, using the arrangements for large-scale blood transfusion set up early in the Second World War. In 1946, Mourant became director of the Blood Group Reference Laboratory and Race of the Blood Group Research Unit, both at London's Lister Institute. As well as standardising blood-grouping reagents and investigating serological problems for the World Health Organization, these laboratories collected, analysed and published vast quantities of genetic data, making the Lister the global centre for blood-group genetics. During this period, human genetics changed from a marginal research field to an established discipline, partly, the dissertation argues, as a result of this blood-group research. By the 1950s a third of all human genetics publications were on blood groups: as one of the few human traits with simple Mendelian inheritance, they formed the basis for linkage studies and association surveys, and underpinned innovation in theoretical population genetics. Against a backdrop of intense international discussion about the meaning and scope of race science, blood groups were also made into tools for a supposedly 'obj ective' and 'unprejudiced' anthropology. This first history of how blood groups became scientific objects follows their collection in Britain and overseas, the grouping of samples, their transformation into data, and their presentation as credible genetic knowledge. It also offers the first sustained analysis of the functions of genetic nomenclatures. I argue that mid-century human genetics was profoundly influenced by the questions and practices of physical anthropology, by clinical practice, and by international infrastructures for medical research.
47
Poa, Nicola. "Molecular Genetics of Type 2 Diabetes in New Zealand Polynesians." Thesis, University of Auckland, 2004. http://hdl.handle.net/2292/692.
Full textAbstract:
The risk of developing type 2 diabetes is four fold higher in New Zealand(NZ) Polynesians compared to Caucasians. Hence diabetes is more prevalent in Maori (16.5% of the general population) and Pacific Island people (10.1%) compared to NZ Caucasians (9.3%). It is generally accepted that type 2 diabetes has major genetic determinants and heterozygous mutations in a number of genes have previously been identified in some subsets of type 2 diabetes and certain ethnic groups. The high prevalence of diabetes in NZ Polynesians, when compared with NZ Caucasians, after controlling for age, income and body mass index (BMI), suggest that genes may be important in this population. Therefore, the prevalence of allelic variations in the genes encoding amylin and insulin promoter factor-1 (IPF-1), and exon 2 of the hepatocyte nuclear factor-1α (HNF-1α) gene in NZ Polynesians with type 2 diabetes was determined. These genes are known to produce type 2 diabetes in other populations. The genes investigated were screened for mutations by PCR amplification and direct sequencing of promoter regions, exons and adjacent intronic sequences from genomic DNA. DNA was obtained from 146 NZ Polynesians (131 Maori and 15 Pacific Island) with type 2 diabetes and 387 NZ Polynesian non-diabetic control subjects (258 Maori and 129 Pacific Island). Sequences were compared to previously published sequences in the National Centre for Biotechnology Information database. Allelic variations in IPF-1 and exon 2 of the HNF-1α gene were not associated with type 2 diabetes in NZ Polynesians. However, in the amylin gene, two new and one previously described allele was identified in the Maori population including: two alleles in the promoter region (-132G>A and -215T>G), and a missense mutation in exon 3 (QlOR). The -215T>G allele was observed in 5.4% and l% of type 2 diabetic and non-diabetic Maori respectively, and predisposed the carrier to diabetes with a relative risk of 7.23. The -215T>G allele was inherited with a previously described amylin promoter polymorphism(-230A>C) in 3% of Maori with type 2 diabetes, which suggests linkage equilibrium exists between these two alleles. Both Q10R and -132G>A were observed in 0.76% of type 2 diabetic patients and were absent in non-diabetic subjects. Together these allelic variations may account for approximately 7% of type 2 diabetes in Maori. These results suggest that the amylin gene maybe an important candidate marker gene for type 2 diabetes in Maori.
48
Blosser, Beverly. "Meanings Parents Attribute to an Answer from Whole Exome Sequencing Research." University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1406809942.
Full text
49
Chakrabortty, Sharmistha. "SNPs and Indels Analysis in Human Genome using Computer Simulation and Sequencing Data." University of Toledo Health Science Campus / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=mco1501726874739045.
Full text
50
Davidson, Bruce Paul, University of Western Sydney, and School of Biological Sciences. "Compound mutations in the mammalian EGFR signalling pathway affect epidermal development, growth and viability." THESIS_XXXX_SBS_Davidson_B.xml, 1997. http://handle.uws.edu.au:8081/1959.7/518.
Full textAbstract:
The widespread expression of polypeptide growth factors from the earliest stages of embryonic development through to mature issues in the adult organism suggests an involvement in a reiterated developmental process affecting the underlying cellular growth and differentiation of many tissues. The hair follicle has taken on increased significance with the observation that many genetic mutations in these peptide growth factor genes affect its development. The targeted disruption of genes encoding members of the EpidermalGrowth Factor (EGF) and Fibroblast Growth Factor (FGF) families in the mouse has revealed a functional role for these proteins in the regulation of hair follicle growth. Experimental data and other factors are examined and results given. A second experimental system was used to determine if a functional relationship between certain peptide growth factors was conserved in the Merino sheep. The induction of a catagen-like state in the wool follicle and other epidermal changes associated with EGF treatment may be related to the transciptional induction of these peptide growth factorsDoctor of Philosophy (PhD)