Дисертації з теми "Allele variances"
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Hummel, Matthew Aaron. "Dapsone activation of CYP2C9 allelic variants." Morgantown, W. Va. : [West Virginia University Libraries], 2003. http://etd.wvu.edu/templates/showETD.cfm?recnum=2767.
Повний текст джерелаTitle from document title page. Document formatted into pages; contains vi, 42 p. : ill. Includes abstract. Includes bibliographical references (p. 35-42).
Milani, Lili. "Gene Expression in Cancer Cells : Detection of Splice Variants, Allele-specific Expression and DNA Methylation." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-99067.
Повний текст джерелаMakambwa, Edson. "The role of warfarin pharmacogenomics on the time it takes to reach stable therapeutic International Normalized Ratio (INR) and on warfarin dose required to maintain stable therapeutic INR in Black African and Mixed Ancestry South Africans: a focus on CYP2C9 and VKORC1." Master's thesis, Faculty of Health Sciences, 2019. http://hdl.handle.net/11427/31178.
Повний текст джерелаCid, Nuria Alonso Lopez. "AVALIAÇÃO DE POLIMORFISMOS DA CYP3A5 EM INDIVÍDUOS DA REGIÃO CENTRO-OESTE DO BRASIL." Pontifícia Universidade Católica de Goiás, 2016. http://localhost:8080/tede/handle/tede/2410.
Повний текст джерелаThe advances in Anesthesiology took place at the same time as the development of drugs that ensured greater control over pain, patient comfort, and safety during surgical anesthetic procedures. Pharmacogenetics is the science that enables enhanced healthcare, by understanding the genetic variations that may affect the different responses to treatments. CYP3A are the most important enzymes involved in the metabolism of drugs prescribed in clinical practice, showing extensive genetic variability in their expression. CYP3A5 presents the highest number of functional variants, with significant differences in the frequencies observed among different population groups around the world and in Brazil. This study aimed and at assessing the frequency of CYP3A5*3 and CYP3A5*6 genotypic and allelic variants and to estimate the metabolizing profile according to these variants, as well as any potential implications on adverse events with drugs used in anesthesia. The sample used for this study included 166 subjects users of the Laboratório da Área de Saúde da PUCGoiás (PUC Healthcare Laboratory city of Goiás). They were all born in the Brazilian Midwest, over 18 years of age, and from both genders. The blood samples were obtained from each individual and genotyped for CYP3A5*3, A>G (rs 776746) and CYP3A5*6, G>A (rs 10264272) by real time Polymerase Chain Reaction using TaqMan assays. Data analysis of the allelic frequency was conducted by calculating the percentage for the established groups, according to color or race, compared to the total sample. In individuals from the Brazilian Midwest, assessed in this study, the frequency of the allelic variant CYP3A5*3 was 40% and 2% for CYP3A5*6. The frequency observed for the CYP3A5*3 allelic variant in subjects from the Midwest was lower than that from other Brazilian studies and also lower than the frequencies observed in Europeans and Asians, however, they were similar to the frequency seen in populations from East and West Africa. The frequency of the CYP3A5*6 allelic variant, in this study, was higher than that found in European studies and similar of the subjects in the North of Africa. Based on the results, one may infer that 72% would be poor metabolizers. The higher frequency of the poor metabolizer profile shows that there is potential for a greater occurrence of adverse events when using drugs metabolized by CYP3A5 in this population from the Brazilian Midwest.
O progresso da Anestesiologia junto com o desenvolvimento de drogas garantiram maior controle da dor, conforto ao paciente e segurança durante o ato anestésicocirúrgico. A Farmacogenética é uma ciência que permite a melhora da assistência à saúde, por meio do conhecimento das variações genéticas que podem estar envolvidas com as diferenças na resposta terapêutica. As CYP3A são as enzimas mais importantes envolvidas com o metabolismo de drogas prescritas na prática clínica, apresentando grande variabilidade genética na sua expressão. A CYP3A5 é a forma que apresenta mais variantes funcionais e com diferenças expressivas nas frequências observadas em diferentes grupos populacionais do mundo. Este estudo teve como objetivo avaliar a frequência das variantes genotípicas e alélicas do CYP3A5*3 e CYP3A5*6 e inferir sobre o perfil metabolizador dos indivíduos em função destas variantes em relação a drogas usadas em anestesia. O grupo avaliado incluiu 166 indivíduos usuários do Laboratório da Área de Saúde da PUCGoiás, nascidos na região Centro-Oeste do Brasil, maiores de 18 anos e de ambos os sexos. As amostras de sangue foram obtidas de cada indivíduo e genotipados para CYP3A5*3, A>G (rs 776746) and CYP3A5*6, G>A (rs 10264272) por Reação em Cadeia de Polimerase usando sondas TaqMan. A análise dos dados das frequências alélicas foi realizada através do cálculo das porcentagens para os grupos estabelecidos, segundo a cor ou raça, em relação a amostra total. Nos indivíduos da região Centro-Oeste do Brasil avaliados neste estudo, a frequência da variante alélica CYP3A5*3 foi de 40% e da CYP3A5*6 foi de 2%. A frequência observada para a variante alélica CYP3A5*3 em indivíduos da região Centro-Oeste foi menor que a de outros estudos brasileiros e também menor que as frequências verificadas em europeus e asiáticos, porém similar à observada na população do leste e oeste da África. A frequência da variante alélica CYP3A5*6, neste estudo, foi maior que a encontrada em estudos europeus e com valores mais próximos daqueles observados no norte da África. Com base nos resultados obtidos da amostra pode-se inferir que 72% dos indivíduos seriam fracos metabolizadores. A maior frequência do perfil de fraco metabolizador mostra que existe potencial de maior ocorrência de eventos adversos no uso de fármacos metabolizados pela CYP3A5 nesta população da região Centro-Oeste do Brasil.
Yang, Su jeong. "Biochemical and biophysical characterisation of allelic variants of ovine prion protein." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611255.
Повний текст джерелаWalton, Esther, Daniel Geisler, Johannes Hass, Jingyu Liu, Jessica Turner, Anastasia Yendiki, Michael N. Smolka, et al. "The Impact of Genome-Wide Supported Schizophrenia Risk Variants in the Neurogranin Gene on Brain Structure and Function." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-132122.
Повний текст джерелаJin, Huilin. "Mechanisms of osteoporosis associated with common allelic variants of the COL1A1 gene." Thesis, University of Edinburgh, 2008. http://hdl.handle.net/1842/29182.
Повний текст джерелаAlbers, Patrick K. "Rare and low-frequency variants and predisposition to complex disease." Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:2d569297-5d2a-49c8-a1ca-32a978aec49d.
Повний текст джерелаGréard, Camille. "La détection des variants alléliques comme voie d'amélioration génétique des plantes fourragères : exemple de la luzerne." Thesis, Poitiers, 2019. http://www.theses.fr/2019POIT2261.
Повний текст джерелаLucerne (Medicago sativa) is an autotetraploid forage legume, whose breeding could beneficiate from allele mining. This strategy is based on the natural diversity and consists in seeking alleles with a potential effect on the phenotype. The interest of this approach was evaluated by studying five genes of agronomic interest: CAD1 and CCoaOMT (digestibility), CONSTANS-like (forage yield), NHX1 (salt tolerance) and WXP1 (drought tolerance). The diversity of these five genes was evaluated by sequencing 387 genotypes of cultivated accessions and 20 genotypes of wild accessions. The results confirmed a bottleneck during lucerne domestication and selection. CONSTANS-like and WXP1 were very variable whereas CAD1, CCoaOMT and NHX1 contained very few variants. Variants with a potential strong impact on the phenotype were identified in conserved parts of protein sequence within the Faboideae. The impact on phenotype was studied for two mutations of the CONSTANS-like gene: constans-634, causing a premature stop codon and constans-4111, located in a conserved region of the gene. Genotypes carrying one to three doses of the mutations (AAAB, AABB and ABBB) were polycrossed in order to obtain offsprings with every allele combination (AAAA, AAAB, AABB, ABBB and BBBB). KASPar markers were developed to determine the mutation doses in offspring progeny. No homozygous genotype was found for constans-634 in the 1505 offspring progeny. This mutation induced a premature flowering of three days for the genotypes carrying three doses of the mutation. The mutation constans-4111 induced an additive effect on stem height and the homozygous genotypes without the variant where on average 11.8 cm shorter than homozygous genotypes carrying three or four doses of the variant. The application of allele mining strategy in plant schemes of heterozygous autotetraploid species was discussed
Johnson, Andrew Danner. "Search for functional alleles in the human genome with focus on cardiovascular disease candidate genes." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1187018497.
Повний текст джерелаWalton, Esther, Daniel Geisler, Johannes Hass, Jingyu Liu, Jessica Turner, Anastasia Yendiki, Michael N. Smolka, et al. "The Impact of Genome-Wide Supported Schizophrenia Risk Variants in the Neurogranin Gene on Brain Structure and Function." Public Library of Science, 2013. https://tud.qucosa.de/id/qucosa%3A27422.
Повний текст джерелаPanicco, Paola. "Protein engineering of human cytochromes P450 and their allelic variants for nanobiotechnological applications." Thesis, Imperial College London, 2010. http://hdl.handle.net/10044/1/11739.
Повний текст джерелаKalita, Ann Marie. "Comparison of the activities of two allelic variants of the human wildtype p53 protein." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp04/mq29729.pdf.
Повний текст джерелаJohansson, Ann-Sofie. "Exploring the Functional Plasticity of Human Glutathione Transferases : Allelic Variants, Novel Isoenzyme and Enzyme Redesign." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2002. http://publications.uu.se/theses/91-554-5270-1/.
Повний текст джерелаZhang, Xiaolu. "Cis-acting Genetic Variants that Alter ERCC5 Regulation as a Prototype to Characterize cis-regulation of Key Protective Genes in Normal Bronchial Epithelial Cells." University of Toledo Health Science Campus / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=mco1461321386.
Повний текст джерелаLu, Tonghua. "Characterization and strain distribution of multicopy allelic variants of the M. fermentans membrane lipoprotein gene, p57." free to MU campus, to others for purchase, 1998. http://wwwlib.umi.com/cr/mo/fullcit?p9901259.
Повний текст джерелаInagaki(Kawata), Yukiko. "Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263544.
Повний текст джерелаGalbiati, Federica. "Functional characterization of allelic variants of pulmonary adenoma susceptibility 1 (Pas1) genes for their cancer modifier activity." Thesis, Open University, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.446307.
Повний текст джерелаBlomquist, Thomas M. "Development of Bimodal Gene Expression Analysis and Allele-Specific Competitive PCR for Investigation of Complex Genetic Traits, Lung Cancer Risk." University of Toledo Health Science Campus / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=mco1277151230.
Повний текст джерелаYeung, Catherine K. "Structure and function of the human FMOs : tissue localization, comparative modeling, and kinetic parameters of FMO3 allelic variants /." Thesis, Connect to this title online; UW restricted, 2005. http://hdl.handle.net/1773/8151.
Повний текст джерелаImsland, Freyja. "Monogenic Traits Associated with Structural Variants in Chicken and Horse : Allelic and Phenotypic Diversity of Visually Appealing Traits." Doctoral thesis, Uppsala universitet, Institutionen för medicinsk biokemi och mikrobiologi, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-259621.
Повний текст джерелаSekar, Aswin. "A natural allelic series of complex structural variants and its influence on the risk of lupus and schizophrenia." Thesis, Harvard University, 2014. http://nrs.harvard.edu/urn-3:HUL.InstRepos:13070061.
Повний текст джерелаSoltys, Daniela Tathiana. "Análise da natureza genotípica de pacientes Xeroderma pigmentosum brasileiros." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/42/42132/tde-05082010-114429/.
Повний текст джерелаNER is the most flexible of all known DNA repair mechanisms. XPG is an endonuclease that participates in the final steps of NER. Mutations in this gene may result in the human syndrome XP and, in some cases, in the XP/CS. We investigated the genetic nature in two XP-G patients, siblings and mildly affected. The cells from these patients demonstrated the high UV sensitivity typical of this syndrome. When exposed to an oxidative agent, only XP-G/CS cells exhibited sensitivity. We identified two missense mutations in the XPG gene of these patients, and a comparison with other known mutations is presented. These mutations have a negative impact in the function of XPG. The protein harboring the mutation p.Ala28Asp exhibited residual activity in complementation tests. These results indicate that the phenotype of XP-G patients is caused by two missense mutations in a compound heterozygous manner, and that the cells carrying these alterations exhibit different responses against genotoxic stress caused by the UV light and by the oxidative agent used.
Lim, Jeong-Eun. "Regulatory genetic variants in mental illness focus on serotonin-related genes /." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1196198735.
Повний текст джерелаTervasmäki, A. (Anna). "Hereditary predisposition to breast cancer:evaluating the role of rare copy number variant, protein-truncating and missense candidate alleles." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526220826.
Повний текст джерелаTiivistelmä Rintasyöpä on naisten yleisin syöpä, ja perinnöllinen alttius on yksi merkittävimmistä sairastumisriskiin vaikuttavista tekijöistä. Tunnetuimpia alttiustekijöitä ovat mutaatiot BRCA1-, BRCA2- ja PALB2-DNA-vauriovastegeeneissä, mutta ne yhdessä muiden altistavien geenimutaatioiden kanssa selittävät kuitenkin vain noin puolet perinnöllisistä rintasyöpätapauksista. Uusien alttiusgeenien löytäminen mahdollistaa tehokkaamman diagnostiikan ja korkeassa syöpäriskissä olevien sukujen perinnöllisyysneuvonnan, sekä auttaa ymmärtämään syvemmin rintasyövän etiologiaa ja syntymekanismeja solutasolla. Tämän väitöskirjan ensimmäisenä päämääränä oli tutkia tarkemmin aiemmin genominlaajuisella mikrosirumenetelmällä rintasyöpäpotilailta tunnistettujen harvinaisten perinnöllisten DNA-kopiolukuvariaatioiden (CNV) yhteyttä rintasyöpäriskiin. Toisena tavoitteena oli tunnistaa uusia rintasyöpäalttiusalleeleja, sekä proteiinitrunkaatioita että missense-mutaatioita, hyödyntämällä uuden sukupolven sekvensointitekniikkaa, jonka avulla tutkittiin mutaatioita lähes 800 DNA-vauriovastegeenistä 189 pohjoissuomalaiselta rintasyöpäpotilaalta. Valittujen kandidaattialleelien (6 deleetion aiheuttavaa CNV:tä, 39 proteiinitrunkaatiota ja 35 missense-mutaatiota) yhteyttä rintasyöpään tutkittiin tapaus-verrokkimenetelmällä käyttäen DNA-näytteitä usealta sadalta rintasyöpäpotilaalta ja terveeltä kontrollihenkilöltä. Tutkittujen CNV:iden esiintyvyydessä ei ollut merkitseviä eroja potilaiden ja kontrollien välillä, mutta tarkasteltaessa yhteyttä potilaiden kasvaimista saatuihin kliinisiin parametreihin, deleetio CYP2C19-geenissä oli yleisempi hormonaalisesti kolmoisnegatiivisissa rintatuumoreissa kuin muissa tuumorityypeissä (p=0.021). Koska CYP2C19 on estrogeenimetaboliaan osallistuva entsyymi, sen viallinen toiminta voi mahdollisesti altistaa erityisesti estrogeenireseptorinegatiiviselle rintasyövälle. Kaksi tutkituista proteiinitrunkaatioista, TEX15 c.7253dupT ja FANCD2 c.2715+1G>A, olivat rikastuneet perinnöllisessä rintasyöpäpotilasaineistossa verrattuna kontrolleihin (p=0.018 ja p=0.036). Myös kaksi missense-alleelia, RECQL p.Ile156Met (p=0.043) ja POLG p.Leu392Val (p=0.010), olivat yleisempiä rintasyöpäpotilailla. Tulokset osoittivat uuden yhteyden kohonneen rintasyöpäriskin ja perinnöllisten muutosten TEX15-, FANCD2- ja POLG-geenien välillä, sekä tukivat aiempia tutkimustuloksia, joiden mukaan RECQL on kohtalaisen riskin rintasyöpäalttiusgeeni
Zhang, Ying. "Exploring functional genetic variants in genes involved in mental disorders." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1186433668.
Повний текст джерелаZuchowska, Magdalena Anna [Verfasser]. "Bedeutung von allelen Varianten des Hexose-Transporters Hxt3p und der Hexokinasen Hxk1p und Hxk2p für Aufnahme und Verwertung von Glucose und Fructose durch Weinhefen / Magdalena Anna Zuchowska." Mainz : Universitätsbibliothek Mainz, 2015. http://d-nb.info/1077801629/34.
Повний текст джерелаGrievink, Hilbert. "Malignant hyperthermia: allele specific expression and mutation screening of the ryanodine receptor 1 : a dissertation presented to Massey University in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Biochemistry." Massey University, 2009. http://hdl.handle.net/10179/1051.
Повний текст джерелаRivas, Cruz Manuel A. "Medical relevance and functional consequences of protein truncating variants." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:a042ca18-7b35-4a62-aef0-e3ba2e8795f7.
Повний текст джерелаTaerk, Evan. "Modulation of executive function in children with Attention DeficitHyperactivity Disorder by allelic variants of the catechol-O-methyltransferase gene and three varying doses of methylphenidate." Thesis, McGill University, 2005. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=84079.
Повний текст джерелаRaud, Loann. "De la variabilité génétique à l’expression phénotypique des groupes sanguins : exemple du système Rh From genetic variability to phenotypic expression of blood group systems, in Transfusion Clinique et biologique 24(4), November 2017 Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype, in Transfusion 59(4), April 2019 Weak D type 1, 2 and 3 subtype alleles are rare in the Western French population, in Transfusion medicine 29(3), June 2019." Thesis, Brest, 2020. http://www.theses.fr/2020BRES0012.
Повний текст джерелаRh system is the most complex and polymorphic blood group system. It’s driven by two homologous genes RHD and RHCE and contains 55 antigens, including the D antigen, carried by the RhD protein, is the most immunogenic and has a major interest in terms of public health. Currently, several hundred variants alleles are listed in the RHD gene, resulting in high phenotypic variability of the D antigen expression. In most cases, blood typing of individuals with a D variant is often not available by serological approaches, so molecular analyses should be used to identify potential defects and deduce the corresponding phenotype. Nevertheless, the interpretation of these rare variants and their consequences on the antigen expression often remain difficult. In this work, we are more specifically interested in three categories of variants: splicing variants, synonymous variants and missense variants. We studied the molecular and cellular impact of these variants by developing functional genetic approaches and observed their respective effects on the splicing alteration and/or on the D antigen expression. This work has provided an overview of the different molecular mechanisms involved in the genetic variability of the Rh system, in particular the interpretation of rare variants affecting the canonical splice sites and the splicing regulatory elements, using a minigene splicing assay developed in our laboratory. Then, beyond the fundamental interest of the functional characterization of these variants, in association with serological analyses, it presents a diagnostic interest in the functional interpretation of certain ambiguous phenotypes. Then, beyond the fundamental interest of the functional characterization of these variants, in association with serological analyses, it presents a diagnostic interest in the functional interpretation of certain ambiguous phenotypes and thus guide the biologist in the management of transfusion and pregnancy
Modén, Olof. "Mutational Analysis and Redesign of Alpha-class Glutathione Transferases for Enhanced Azathioprine Activity." Doctoral thesis, Uppsala universitet, Biokemi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-167332.
Повний текст джерела(13991187), Joseph W. Daley. "Mixed model methods for quantitative trait loci estimation in crosses between outbred lines." Thesis, 2003. https://figshare.com/articles/thesis/Mixed_model_methods_for_quantitative_trait_loci_estimation_in_crosses_between_outbred_lines/21376767.
Повний текст джерелаMethodology is developed for Quantitative Trait Loci (QTL) analysis in F2 and backcross designed experiments between outbred lines using a mixed model framework through the modification of segment mapping techniques. Alleles are modelled in the F1 and parental generations allowing the estimation of individual additive allele effects while accounting for QTL segregation within lines as well as differences in mean QTL effects between lines.
Initially the theory, called F1 origin mapping, is developed for a single trait scenario involving possible multiple QTL and polygenic variation. Additive genetic variances are estimated via Restricted Maximum Likelihood (REML) and allele effects are modelled using Best Linear Unbiased Prediction (BLUP). Simulation studies are carried out comparing F1 origin mapping with existing segment mapping methods in a number of genetic scenarios. While there was no significant difference in the estimation of effects between the two methods the average CPU time of one hundred replicates was 0.26 seconds for F1 origin mapping and 3.77 seconds for the segment mapping method. This improvement in computation efficiency is due to the restructuring of IBD matrices which result in the inversion and REML iteration over much smaller matrices.
Further theory is developed which extends F1 origin mapping from single to multiple trait scenarios for F2 crosses between outbred lines. A bivariate trait is simulated using a single QTL with and without a polygenic component. A single trait and bivariate trait analysis are performed to compare the two approaches. There was no significant difference in the estimation of QTL effects between the two approaches. However, there was a slight improvement in the accuracy of QTL position estimates in the multiple trait approach. The advantage of F1 origin mapping with regard to computational efficiency becomes even more important with multiple trait analysis and allows the investigation of interesting biological models of gene expression.
F1 origin mapping is developed further to model the correlation structure inherent in repeated measures data collected on F2 crosses between outbred lines. A study was conducted to show that repeated measures F1 origin mapping and multiple trait F1 origin mapping give similar results in certain circumstances. Another simulation study was also conducted in which five regular repeated measures where simulated with allele breed difference effects and allele variances increasing linearly over time. Various polynomial orders of fit where investigated with the linear order of fit most parsimoniously modelling the data. The linear order of fit correctly identified the increasing trend in both the additive allele difference and allele variance. Repeated measures F1 origin mapping possesses the benefits of using the correlated nature of repeated measures while increasing the efficiency of QTL parameter estimation. Hence, it would be useful for QTL studies on measurements such as milk yield or live weights when collected at irregular intervals.
Theory is developed to combine the data from QTL studies involving F2 and backcross designed experiments. Genetic covariance matrices are developed for random QTL effects by modelling allele variation in the parental generation instead of the offspring generation for an F2 and backcross between outbred lines. The result is a general QTL estimation method called parental origin mapping. Phenotypes and genotypes from such a study involving Romney and Merino sheep are analysed providing evidence for a QTL affecting adult and hogget fibre diameter.
By coupling these new methods with computer software programs such as ASREML, F1 origin mapping and parental origin mapping provide powerful and flexible tools for QTL studies with the ability to efficiently handle single traits, multiple traits and repeated measures.
Alsaedi, Sakhaa. "Evaluating the Application of Allele Frequency in the Saudi Population Variant Detection." Thesis, 2020. http://hdl.handle.net/10754/662641.
Повний текст джерелаRosli, Nordiana. "Functional characterisation of putative Cis-Regulatory Risk Loci for breast cancer." Master's thesis, 2015. http://hdl.handle.net/10400.1/8544.
Повний текст джерелаAt present, 94 breast cancer susceptibility loci have been discovered from genome-wide association studies (GWAS). The next step is to identify the causal risk variant, the target gene and to understand the underlying disease mechanism. Studies revealed that most of the variants discovered by GWAS are cis-acting regulatory. Cis-acting regulatory variants can be identified most efficiently by differential allelic expression (DAE) analysis. A DAE genome-wide mapping was done in normal breast tissue, which was cross-compared with GWAS breast cancer data. 19 loci associated with risk and with evidence of cis-regulation were identified, including the 5q14.2 locus that has one SNP associated with risk - rs7707921, and five SNPs displaying DAE across three genes: ATG10, RPS23 and ATP6AP1L. The aim of this thesis is to set out to map the regulatory variants responsible for the DAE signals in the 5q14.2 locus and to determine which one(s) is (are) associated with risk for breast cancer. We performed in silico analysis using data obtained through publically accessible databases, to identify candidate regulatory SNPs (rSNPs) that could be responsible for the DAE and determine if they may be associated with risk to breast cancer. Experimental in vitro analysis by EMSA and analysis of available ChIP-seq data was also conducted in order to investigate possible interactions between candidate rSNPs and transcription factors (TFs). In this study, three SNPs rs226198, rs6880209 and rs17247678 were identified as potential cis-acting regulators of ATG10, RPS23 and ATP6AP1L. Henceforth, we propose a risk model based on our findings: Binding of c-Myc and POL2 to the common allele of rs226198 and rs6880209 lead to over expression of RPS23 and under expression of ATG10, respectively, whereas, binding of STAT3 and c-FOS to rs17247678 lead to under expression of ATP6AP1L, increasing the risk for breast cancer.
Erasmus Mundus
Fiala, Ondřej. "Genetika a fenotypová charakteristika Parkinsonovy nemoci s časným začátkem." Doctoral thesis, 2014. http://www.nusl.cz/ntk/nusl-332551.
Повний текст джерела