Rozprawy doktorskie na temat „Haplotypes”
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Xia, Shuang. "Detecting Rare Haplotype-Environment Interaction and Dynamic Effects of Rare Haplotypes using Logistic Bayesian LASSO". The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1406246686.
Pełny tekst źródłaJanyakhantikul, Somwang. "Evolution of CCL3L1/CCL4L1 haplotypes". Thesis, University of Nottingham, 2011. http://eprints.nottingham.ac.uk/13404/.
Pełny tekst źródłaZhang, Han. "Detecting Rare Haplotype-Environmental Interaction and Nonlinear Effects of Rare Haplotypes using Bayesian LASSO on Quantitative Traits". The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu149969433115895.
Pełny tekst źródłaMartinez, Cadenas Conrado. "Y chromosome haplotypes and Spanish surnames". Thesis, University of Oxford, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.559800.
Pełny tekst źródłaBrennan, Patrick J. "An Investigation of Personal Ancestry Using Haplotypes". University of Toledo / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1501705310326744.
Pełny tekst źródłaNicholls, Samuel. "Computational recovery of enzyme haplotypes from a metagenome". Thesis, Aberystwyth University, 2018. http://hdl.handle.net/2160/cfc1d884-cc17-439f-be6e-c3ab6d79ee1d.
Pełny tekst źródłaHiggins, Thomas John Diatchenko Luda. "Molecular characterization of [beta]2 adrenergic receptor haplotypes". Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2008. http://dc.lib.unc.edu/u?/etd,1602.
Pełny tekst źródłaTitle from electronic title page (viewed Sep. 16, 2008). "... in partial fulfillment of the requirements for the degree of Master's of Science in the Curriculum in Neurobiology." Discipline: Neurobiology; Department/School: Medicine. On title page, [beta] appers as Greek character and 2 appears in subscript.
Bradman, Neil. "A Y chromosome history of the Jews". Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.275330.
Pełny tekst źródłaLo, Wing Sze. "Association of SNPs and haplotypes in GABRB2 with schizophrenia /". View abstract or full-text, 2006. http://library.ust.hk/cgi/db/thesis.pl?BICH%202006%20LO.
Pełny tekst źródłaKing, Turi E. "The relationship between British surnames and Y-chromosomal haplotypes". Thesis, University of Leicester, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.484806.
Pełny tekst źródłaParacchini, Silvia. "Y-chromosomal DNA haplotypes in male infertility and cancer". Thesis, University of Oxford, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270655.
Pełny tekst źródłaLemnrau, A. G. "Identification of human leukocyte antigens (HLA) haplotypes using tagSNPS". Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1344057/.
Pełny tekst źródłaAttaoua, Redha. "Déterminisme génétique de la résistance à l'insuline dans les maladies complexes : application des stratégies de criblage dense du génome basées sur les profils de déséquilibre de liaison dans la génétique du syndrome des ovaires polykystiques". Montpellier 1, 2009. http://www.theses.fr/2009MON1T011.
Pełny tekst źródłaInsulin resistance is a metabolic disorder characterized by a decrease of insulin activity on its target issues. It characterizes a panel of Mendelian diseases as type A syndrome or complex affections as type 2 diabetes or polycystic ovary syndrome (PCOS). In my thesis, we focused on the study of 3 genes in PCOS, in a women population from Central Europe. Genes explored were VNTR of insulin gene, insulin receptor gene (INSR) and FTO (fat mass and obesity associated gene). Genetic markers used in these studies were SNPs, a mononucleotidic and biallelic polymorphisms which we genotyped using fluorescent sequencing or SSO-PCR (sequence specific oligonucleotide-PCR). For INSR, the microsatellite D19S884 located at 1 Mb from the gene genotyped by fluorescent PCR. Linkage disequilibrium between SNPs was measured using HAPLOVIEW 3. 31 and the combination of these polymorphisms into haplotypes in the population was determined by the software PHASE 2. 1. The software StatView ans SAS was used to calculate genetic association by logistic regression or to assess genotype-phenotype correlations by ANOVA. Exploration of VNTR (by genotyping 7 SNPs) was achieved in a population of 160 women with PCOS and 95 controls. INSR was explored (by genotyping 5 SNPs and one microsatellite) in a population of 115 women with PCOS and 11 controls, while FTO gene was investigated (by genotyping one SNP : rs1421085) in 207 cases and 100 controls. FTO was also studied in the obesity of the general women population, in a cohort from Southern France (71 women with simple obesity, 48 others with morbid obesity and 128 controls). We observed that VNTR associates to a prospective effect against PCOS by its SNPs and haplotype H5 (OR = 0. 54; P< 0. 03) while insulin receptor gene appeared as pathogenic by its haplotype H9 which associates to PCOS and infertility (OR = 3. 0, P < 3. 1. 10ˉ³) and correlates with hyperandrogenism and the severity of the disease. FTO did not associate to the phenotype PCOS like INSR but to metabolic syndrome (MetS) and insulin resistance in PCOS (OR = 3. 2; p <0. 0001). This findind was confirmed in obesity of the general women population where FTO was associated as IRS-2, also genotyped in this cohort, to obesity. However, the association of IRS-2 was limited to obesisty (P < 0. 01, OR = 4. 4) and did not extend to MetS and its components as impaired glucose tolerance (IGT) and insulin resistance. In conclusion, my thesis demonstrates the importance of using haplotypes as markers in genetic studies of complex diseases but also allows to note the necessity of investigating the genetic background of metabolic disorders in PCOS aiming individuals of a high cardiovascular and type 2 diabetes risk
Chacon, Sanchez Maria Isabel. "Chloroplast DNA polymorphisms and the evolution and domestication of the common bean (Phaseolus vulgaris L.)". Thesis, University of Reading, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.367751.
Pełny tekst źródłaGornall, Robert J. "TP53 polymorphisms and haplotypes in breast, cervical and ovarian cancer". Thesis, University of Southampton, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.310562.
Pełny tekst źródłaSalome, Nathalie. "Haplotypes chromosomiques et mutations β-Thalassémiques dans la population algérienne". Lyon 1, 1985. http://www.theses.fr/1985LYO11650.
Pełny tekst źródłaMaxey, Gail D. "Identification of major histocompatibility complex haplotypes in goldfish, Carassius auratus". Thesis, This resource online, 1993. http://scholar.lib.vt.edu/theses/available/etd-08042009-040408/.
Pełny tekst źródłaObregon, Tito Alexandra de. "APOE haplotypes in health, lessons from an Oklahoman African American population". Oklahoma City : [s.n.], 2010.
Znajdź pełny tekst źródłaNorwich, Jemma Townsend. "The sequence and characterisation of α-globin haplotypes in human populations". Thesis, University of Oxford, 1996. https://ora.ox.ac.uk/objects/uuid:470b6750-3284-45af-8f3d-3acfe655e929.
Pełny tekst źródłaSanassy, Shane. "Functional study of ubiquitin C-terminal hydrolase-L1 gene promoter haplotypes". Thesis, University of Southampton, 2007. https://eprints.soton.ac.uk/64912/.
Pełny tekst źródłaMcCullagh, Bonnie. "Sequence evolution among divergent mitochondrial haplotypes within species of Junonia butterflies". Journal of Asia-Pacific Entomology, 2015. http://hdl.handle.net/1993/31105.
Pełny tekst źródłaFebruary 2016
Zou, Meilin. "Haplotypes of cleistogamous flowering gene cly1 and association with temperature stress". Thesis, Zou, Meilin (2017) Haplotypes of cleistogamous flowering gene cly1 and association with temperature stress. Honours thesis, Murdoch University, 2017. https://researchrepository.murdoch.edu.au/id/eprint/37942/.
Pełny tekst źródłaVan, Dorp L. "Investigating processes driving genetic diversity in human populations using dense haplotypes". Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/1542974/.
Pełny tekst źródłaRibeiro, Daniela Maria. "Influencia dos polimorfismos do elemento regulatorio maior dos genes do cluster da globina alfa humana na expressão genica in vitro". [s.n.], 2007. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310876.
Pełny tekst źródłaTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: A expressão dos genes do cluster da globina a em humanos é regulada pelo a-MRE ( a-Major Regulatory Element), um elemento localizado 40 kb à montante do respectivo cluster na região telomérica do braço curto do cromossomo 16. O a-MRE é geneticamente polimórfico e seis diferentes haplótipos, nomeados de A a F, foram determinados em alguns grupos populacionais da África, Europa e Ásia e em indivíduos pertencentes a duas populações indígenas brasileiras. As substituições de base que resultaram nestes haplótipos estão localizadas entre sítios de ligação para fatores nucleares ou em um sítio não ocupado in vivo, exceto no caso do haplótipo D, em que o polimorfismo altera a seqüência de um dos sítios ocupado in vivo pelo fator NF-E2. Não há, de nosso conhecimento, nenhum estudo experimental feito para avaliar se essa variabilidade pode influenciar a expressão gênica. Assim, no presente trabalho foi analisada e comparada a expressão do gene repórter da luciferase em células K562 transientemente transfectadas com construções que tiveram como enhancers os diferentes haplótipos do a-MRE, além de 3 dos polimorfismos isoladamente (+130, +199 e +209). Os resultados revelaram redução da expressão do gene da luciferase com todas as construções em relação à do haplótipo selvagem A: os haplótipos B e C corresponderam a 19% do grau de expressão do haplótipo A, o D a 21%, o E a 15%, o F a 3%, o polimorfismo +130 a 24%, o +199 a 32% e o +209 a 3%. Em seu conjunto, eles demonstram que os polimorfismos responsáveis pelos diferentes haplótipos do a-MRE, em sua maioria situados nas seqüências flanqueadoras dos sítios de ligação para proteínas regulatórias, reduzem a expressão gênica in vitro
Abstract: The expression of human a-like globin genes is regulated by the a-MRE (a-Major Regulatory Element), an element located 40 kb upstream of the a cluster in the short arm of chromosome 16. The a-MRE is genetically polymorphic and six different haplotypes, named A to F, have been identified in some population groups from Europe, Africa and Asia and in native Indians from two Brazilian Indian tribes. The base substitutions that resulted in these haplotypes are located between binding sites for nuclear factors or in a site that is considered not to be active in vivo, with the exception of haplotype D, in which the polymorphism changes the first binding site for the NF-E2 factor occupied in vivo. To our knowledge, there are no experimental studies evaluating whether this variability may influence gene expression. Thus, the present work analyzed and compared the expression of the luciferase reporter gene in K562 cells transiently transfected with constructs that have, as enhancers, the different a-MRE haplotypes, besides three isolated polymorphisms (+130, +199 and +209). The results demonstrated a reduction in luciferase gene expression with all the constructs compared with the wild type a-MRE (A haplotype): the B and C haplotypes corresponded to 19% of the A haplotype expression, the D to 21%, the E to 15%, the F to 3%, the polymorphism +130 to 24%, the +199 to 32% and the +209 to 3%. They demonstrate that the polymorphisms responsible for the a-MRE haplotypes, most located in the flanking sequences of the regulatory protein binding sites, decrease in vitro gene expression
Doutorado
Ciencias Biomedicas
Doutor em Ciências Médicas
Angelo, Sandro Nunes. "Influencia dos polimorfismos T6235C e A4889G, do gene CYP1A1, e dos haplotipos NAT1*3, NAT1*4 e NAT1*10 do gene NAT1, associados com o metabolismo de carcinogenos, na susceptibilidade ao adenocarcinoma colorretal esporadico". [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308618.
Pełny tekst źródłaDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
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Resumo: A exposição das células do cólon e do reto a substâncias carcinogênicas está associada ao consumo de alimentos que constituam fonte de substratos, como aminas aromáticas e hidrocarbonetos aromáticos policiclícos. Enzimas como a mono-oxigenase do citocromo P450, codificada pelo gene CYP1A1 e a N-acetiltransferase, codificada pelo gene NAT1, estão relacionadas com o metabolismo dessas substâncias. Os polimorfismos T6235C e A4889G, do gene CYP1A1, e o haplótipo NAT1*10, do gene NAT1, foram associados ao risco do câncer colorretal (CC) em indivíduos do hemisfério norte. Não há descrições sobre as influências desses polimorfismos no risco do CC em nossa população, sendo este o objetivo do estudo. O DNA de 254 pacientes com adenocarcinoma colorretal esporádico (ACE) e 255 controles foi analisado por meio da reação em cadeia da polimerase e digestão enzimática. Foi avaliado também, o padrão dietético de pacientes e controles por meio do recordatório de freqüência alimentar. Houve risco maior de ocorrência do ACE em indivíduos com os genótipos variantes dos polimorfismos T6235C e A4889G do gene CYP1A1 e com consumo excessivo de carnes. A frequência do haplótipo NAT1*10 foi maior em pacientes do que em controles, havendo risco maior de ocorrência do ACE nesses indivíduos. Maior risco de ocorrência da doença foi também observado em indivíduos com os haplótipos NAT1*10 do gene NAT1 e consumo excessivo de carnes e escasso de verduras e frutas. Os resultados deste estudo sugerem que as vias herdadas do metabolismo de carcinógenos, CYP1A1 e NAT1, associadas ao padrão da dieta influenciam o risco de ocorrência do ACE em nosso meio.
Abstract: The exposure of the cells of the colon and rectum to carcinogenic substances is associated with the consumption of foods that are source of substrates, such as aromatic amines and polycyclic aromatic hydrocarbons. Enzymes such as cytochrome P450 monooxygenase, encoded by the CYP1A1 gene, and acetyltransferase, encoded by the NAT1 gene, are related to the metabolism of these substances. T6235C and A4889G polymorphisms, of the CYP1A1 gene, and NAT1*10 haplotype of the gene NAT1 were associated with incidence of colorectal cancer (CC). There are no descriptions about the influences of these polymorphisms on the risk for the CC in our population, which is the objective of the study. DNA from 254 sporadic colorectal adenocarcinoma (SCA) patients and 255 controls were analysed by polymerase chain reaction and restriction digestion. It was also assessed the dietary pattern pacients and controls through the recall of food frequency. There was a greater risk of the occurrence of SCA in individuals with the variant genotypes of the T6235C and A4889G polymorphisms, of the CYP1A1 gene, associated with high consumption of meat. The frequency of the NAT1*10 haplotype was greater in pacients than in controls, with increased risk of occurrence of SCA these individuals. Increased risk of occurrence of the disease was also observed in individuals with NAT1*10 haplotype of the gene NAT1 and excessive consumption of meat and little vegetables and fruits. The results of the study suggest that the pathaway inherited from the metabolism of carcinogens, CYP1A1 and NAT1, associated with the pattern of diet influences the risk of occurrence of SCA in our country.
Mestrado
Cirurgia
Mestre em Cirurgia
Bardel, Claire. "Mise en évidence de facteurs génétiques de risque en utilisant des phylogénies d'haplotypes". Paris 6, 2005. http://www.theses.fr/2005PA066616.
Pełny tekst źródłaLavelle, Suzanne Patricia. "Autosomal haplotypes as markers for the histories and structures of human populations". Thesis, University of Leicester, 2010. http://hdl.handle.net/2381/8374.
Pełny tekst źródłaKamihara-Ting, Junne. "Studies at the hemochromatosis (HFE) locus : gene conversions, haplotypes, and association analysis". Thesis, Massachusetts Institute of Technology, 2005. http://hdl.handle.net/1721.1/34193.
Pełny tekst źródłaIncludes bibliographical references.
Haplotype-based association studies offer an exciting potential methodology for the identification of genes that contribute to complex traits. There is thus great interest in understanding the biological forces that shape haplotypes. We have studied a well-characterized genetic locus surrounding the gene responsible for hereditary hemochromatosis (HFE) to investigate the impact of meiotic recombination events upon haplotype structure in this region. First we identified crossover hotspots in order to define the boundaries of haplotype blocks in this locus. We then found that gene conversion events play a significant role in shaping haplotype structure within these haplotype blocks. These gene conversion events were not limited to recombination hotspots and occurred with a frequency as high as 1 in 104 per site per generation. Gene conversions lead to the creation of new haplotypes and we suggest that they are important for the spread of disease alleles in a population. In addition, we discuss how these events can be used as important tools in haplotype-based association studies. We also present an association study in a large Venezuelan cohort to search for genes that contribute to residual age of onset in Huntington's disease. We demonstrate significant association between multiple alleles in a region on chromosome 6p21.3.
(cont.) We identify two candidate genes in this region, HFE and histone Hlt and demonstrate significant association of this region with age of onset in a male-specific model.
by Junne Kamihara-Ting.
Ph.D.
Jiang, Wei. "Killer-cell immunoglobulin-like receptor gene copy number, haplotypes and disease association". Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.607691.
Pełny tekst źródłaSerao, Nick, Dianelys Gonzalez-Pena, Jonathan Beever, Dan Faulkner, Bruce Southey i Sandra Rodriguez-Zas. "Single nucleotide polymorphisms and haplotypes associated with feed efficiency in beef cattle". BioMed Central, 2013. http://hdl.handle.net/10150/610391.
Pełny tekst źródłaion transport, phosphorous metabolic process, and the MAPK signaling pathway were overrepresented among the genes harboring the SNPs associated with feed efficiency.CONCLUSIONS:The general SNP associations suggest that a single panel of genomic variants can be used regardless of breed and diet. The breed- and diet-dependent associations between SNPs and feed efficiency suggest that further refinement of variant panels require the consideration of the breed and management practices. The unique genomic variants associated with the one- and two-step indicators suggest that both types of indicators offer complementary description of feed efficiency that can be exploited for genome-enabled selection purposes.
Dicks, Kara Leanne. "Unravelling major histocompatibility complex diversity in the Soay sheep of St Kilda". Thesis, University of Edinburgh, 2018. http://hdl.handle.net/1842/31412.
Pełny tekst źródłaHowie, Bryan. "Statistical methods for phasing haplotypes and inputing genotypes in large population genetic datasets". Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.531825.
Pełny tekst źródłaSalgado, Teixeira Duarte Carolina. "The role of lupus susceptibility MHC haplotypes and interferon-alpha in gene regulation". Thesis, King's College London (University of London), 2017. https://kclpure.kcl.ac.uk/portal/en/theses/the-role-of-lupus-susceptibility-mhc-haplotypes-and-interferonalpha-in-gene-regulation(7430456f-6cca-47e0-b9f4-a89a22e1991f).html.
Pełny tekst źródłaWang, Meng. "Family-Based Bayesian LASSO for Detecting Association of Rare Haplotypes with Common Diseases". The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1398896091.
Pełny tekst źródłaMenard, Katrina Louise. "Population genetic structure of Conophthorus ponderosae Hopkins (Coleoptera: Scolytidae) inferred from mitochondrial DNA haplotypes". Texas A&M University, 2006. http://hdl.handle.net/1969.1/4210.
Pełny tekst źródłaSpinka, Christine Marie. "Gene-environment interactions in genetic epidemiology". Texas A&M University, 2004. http://hdl.handle.net/1969.1/1399.
Pełny tekst źródłaGündüz, Islam. "Evolutionary genetics of the house mouse (Mus musculus domesticus) with particular emphasis on chromosomal and mitochondrial DNA variation". Thesis, University of York, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.369328.
Pełny tekst źródłaMoreira, Juliane Almeida. "Impacto dos haplÃtipos do gene ΒS sobre os marcadores de hemÃlise em pacientes com anemia falciforme em estado basal". Universidade Federal do CearÃ, 2013. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=12359.
Pełny tekst źródłaA anemia falciforme (AF) Ã uma doenÃa hereditÃria resultante de uma mutaÃÃo pontual (GAG GTG) no cÃdon do gene da βS - globina, levando a uma substituiÃÃo de Ãcido glutÃmico por valina na sexta posiÃÃo da cadeia polipeptÃdica, gerando uma hemoglobina (Hb) anormal denominada de HbS, em homozigose. A AF se caracteriza por anemia hemolÃtica crÃnica associada a mÃltiplos eventos tais como processo inflamatÃrio crÃnico, aumento do estresse oxidativo, dano endotelial, diminuiÃÃo da biodisponibilidade do Ãxido nÃtrico (NO), ativaÃÃo da coagulaÃÃo, dentre outros. Os biomarcadores de hemÃlise tais como: contagem de reticulÃcitos, lactato desidrogenase (LDH), Ãcido Ãrico e arginase I sÃo fundamentais na avaliaÃÃo do grau da hemÃlise, principalmente, de natureza intravascular contribuindo com o monitoramento da anemia nesses pacientes. O presente estudo teve como objetivo avaliar o impacto dos haplÃtipos do gene βS sobre os marcadores de hemÃlise em adultos com AF em estado basal, acompanhados no ambulatÃrio do serviÃo de hematologia no Hospital UniversitÃrio Walter CantÃdio (HUWC). Um total de 50 pacientes adultos com AF foi selecionado, com diagnÃstico confirmado por estudo molecular. Os pacientes se encontravam em uso de hidroxiurÃia (HU), dose variando de 500 mg a 1,5 g/kg/dia por no mÃnimo seis meses. Um grupo controle foi elaborado, sendo constituÃdo por 20 indivÃduos supostamente saudÃveis. Foram coletados 10 mL de sangue venoso em tubo de coleta a vÃcuo, contendo o anticoagulante EDTA (etileno-diamino-tetracÃtico), para a realizaÃÃo da contagem de reticulÃcitos e 6 mL de sangue venoso em tubo de coleta a vÃcuo contendo gel separador, sem anticoagulante, para as dosagens sÃricas de LDH , Ãcido Ãrico e arginase I. As variÃveis idade, sexo, dosagem e tempo de uso do medicamento, concentraÃÃo da Hb e da hemoglobina fetal (HbF) foram obtidas nos prontuÃrios mÃdicos no momento da realizaÃÃo do estudo. As anÃlises estatÃsticas foram realizadas no programa GraphPad Prism (versÃo 5.0) e o nÃvel de significÃncia estabelecido foi p < 0,05. Foi verificado aumento significante nos nÃveis de reticulÃcitos, LDH, Ãcido Ãrico e arginase I nos pacientes com AF em relaÃÃo ao grupo controle (p < 0,05). Foi observada diferenÃa significativa na Hb nos grupos Bantu/Benin em relaÃÃo aos demais haplÃtipos do cluster da βs-globina. Os nÃveis de HbF apresentaram uma tendÃncia a aumento no haplÃtipo Benin/Benin em relaÃÃo aos demais. Foi verificada uma tendÃncia no aumento de LDH no genÃtipo Bantu/Bantu em comparaÃÃo com os demais haplÃtipos. Foi observada diferenÃa significativa da arginase I entre os grupos Bantu/Bantu vs Bantu/Benin e Bantu/Bantu vs Benin/Benin. Os resultados do presente estudo reforÃam a hipÃtese de que a arginase I possa ser utilizada como possÃvel indicador de gravidade uma vez que a mesma foi associada ao haplÃtipo Bantu.
Jacobs, Clifford Winston. "Pharmacogenomics of solute carrier transporter genes in the Xhosa population". University of the Western Cape, 2014. http://hdl.handle.net/11394/4450.
Pełny tekst źródłaSolute carrier transporters belonging to the major facilitator family of membrane transporter are increasingly being recognized as a possible mechanism to explain inter-individual variation in drug efficacy and response. Genetic factors are estimated to be responsible for approximately 15-30% of inter-individual variation in drug disposition and response. The aims of this study were to determine the minor allele frequencies of 78 previously identified single nucleotide polymorphisms in the pharmacogenetically relevant SLC22A1-3 and SLC47A1 genes in the indigenous African population of South Africa. Secondly, to determine whether allele and genotype frequencies for these SNP were different from that reported for other African, Caucasian, and Asian populations. Thirdly, to infer haplotypes from the genetic information which can potentially be used in future to design and interpret results of pharmacogenetics association studies involving these genes and their substrate drugs. Finally, to determine whether the Xhosa population harbour novel SNPs in the SLC22A2 gene, that encodes the kidney-specific hOCT2. SNaPshot™ multiplex single base minisequencing systems were developed and optimized for each of SLC22A1, SLC22A2, SLC22A3, and SLC47A1 covering the previously identified 78 SNPs. These systems were then used to genotype the alleles of 148 healthy Xhosa subjects residing in Cape Town, South Africa. In addition, the proximal promoter region and all 11 exons and flanking regions of the SLC22A2 gene of 96 of the participants were screened for novel SNPs by direct sequencing. The Xhosa subjects investigated lacked heterozygosity and were monomorphic for 91% of the SNPs screened. None of the SLC22A3 and SLC47A1 SNPs investigated was observed in this study. Sequencing of the SLC22A2 gene revealed 28 SNPs, including seven novel polymorphic sites, in the 96 Xhosa subjects that were screened. The minor allele frequencies of the seven previously identified variant SNPs observed in this study were different compared to that observed for American and European Caucasian, and Asian populations. Moreover, the allele frequencies for these SNPs differed amongst African populations themselves. Eight and seven haplotypes were inferred for SLC22A1 and SLC22A2, respectively, for the Xhosa population from the information gathered with SNaPshot™ genotyping. This study highlights the fact that African populations do not have the same allele frequencies for SNPs in pharmacogenetically relevant genes. Furthermore, the Xhosa and other African populations do not share all reduced function variants of the SLC22A1-3 and SLC47A1 genes with Caucasian and Asian populations. Moreover, this study has demonstrated that the Xhosa population harbours novel and rare genetic polymorphisms in the key pharmacogene SLC22A2. This study lays the foundation for the design and interpretation of future pharmacogenetic association studies between the variant alleles of the SLC22A1-3 and SLC47A1 genes in the Xhosa population and drug disposition and efficacy.
Wilson, Lyle. "Genetic analysis of the Cape Sand Frog, Tomopterna delalandii (Tschudi 1838)". University of the Western Cape, 2015. http://hdl.handle.net/11394/4866.
Pełny tekst źródłaTomopterna delalandii occurs throughout the west coast, Western Cape and south coast of South Africa. This range stretches across three distinct biogeographical assemblages. Based on historical records and the fact that Tomopterna is a genus of cryptic frogs, it is possible that there are unknown genetic variations within the species. To investigate whether population structure is present within T. delalandii a mitochondrial gene and nuclear gene, 16S and Tyrosinase, was sequenced from across the range. Haplotype networks and cladograms were constructed to look at the relationship between the genetic samples. This revealed definite population structuring between samples from the western edge of the range and samples from the eastern edge of the range. It also revealed that samples taken from the northern edge of the range, while matching general T. delalandii tadpole morphology, are genetically different. Further study needs to be made into the identity of this new form. This study shows that by using both mitochondrial and nuclear DNA patterns can be discovered about the genetic structure of a species as well as revealing a new one.
Utsunomiya, Yuri Tani. "Sobre a origem e dispersão da mutação do gene PLAG1 em bovinos". Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/152438.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
O gene 1 do adenoma pleomórfico (PLAG1) apresenta evidência de seleção positiva recente e associação com tamanho corporal e fertilidade em um grande número de raças bovinas ao redor do mundo. Tendo em vista sua recentemente descoberta função como fator de transcrição para o gene do fator de crescimento semelhante à insulina 2 (IGF2), o PLAG1 possui papel emergente como um dos principais reguladores do crescimento e da reprodução em bovinos. Apesar de sua importância, a variante de sequência de DNA responsável pelos efeitos pleiotrópicos atribuídos ao PLAG1 em bovinos permanece desconhecida. Também não está claro se a mesma mutação explica as associações fenótipo-genótipo encontradas em diferentes populações bovinas. Além disso, ainda é incerto onde e quando ocorreu a pressão de seleção responsável pelo aumento da frequência da mutação do PLAG1. No presente trabalho, reportamos o desenvolvimento de um pacote para o software estatístico R, o qual é direcionado à análise de haplótipos como preditores para variantes genéticas não observadas. Através da aplicação desta ferramenta a dados genômicos de bovinos oriundos de diversas regiões do mundo, encontramos evidência indicando que um único alelo derivado do PLAG1 aumentou em frequência rapidamente em bovinos Bos taurus do noroeste europeu entre os séculos XVI e XVIII. Este período é reconhecido como a última onda de aumento de estatura em bovinos por meio de registros arqueológicos. Os dados também sugerem que o alelo foi introgredido em B. taurus não europeu e raças Bos indicus entre os séculos XIX e XX, adquirindo uma distribuição quase global no último século. Análises de DNA antigo revelaram que esta mutação segrega em gado do noroeste europeu há pelo menos 1.000 anos. Em conjunto, estes resultados implicam um papel central da mutação do PLAG1 em recentes mudanças de tamanho corporal em bovinos.
The pleomorphic adenoma gene 1 (PLAG1) presents both evidence of recent positive selection and association with body size and fertility in a wide range of worldwide cattle breeds. Considering its recently uncovered function as a transcription factor for the insulin-like growth factor 2 gene (IGF2), PLAG1 is emerging as a major regulator of bovine growth and reproduction. In spite of its importance, the causal DNA sequence variant underlying the pleiotropic effects of PLAG1 in cattle remains unknown. It is also unclear whether the same mutation accounts for the phenotype-genotype associations detected across different cattle populations. Furthermore, when and where the selective pressure responsible for increasing the frequency of the PLAG1 mutation occurred is still uncertain. Here, we report the development of a package for the R statistical software to analyze haplotypes as surrogates for unobserved genetic variants. By applying this tool to genomic data of worldwide cattle breeds, we found evidence that a single bovine PLAG1 derived allele increased rapidly in frequency in Northwestern European Bos taurus populations between the 16th and 18th centuries. This period is recognized as the last wave of increase in bovine stature from archaeological data. The data also suggested that the allele was introgressed into non-European B. taurus and Bos indicus breeds towards the 19th and 20th centuries, achieving an almost global distribution in the last century. Ancient DNA analyses further revealed that this mutation has been segregating in Northwestern European cattle for at least 1,000 years. Altogether, these results implicate a major role of the PLAG1 mutation in recent changes in body size in cattle.
2014/01095-8
2016/07531-0
Froimzon, Melanie. "Identification of D21S11 haplotypes based on single nucleotide polymorphisms found in the 5' flanking sequence". FIU Digital Commons, 2005. http://digitalcommons.fiu.edu/etd/3420.
Pełny tekst źródłaBoettger, Linda M. "Complex Forms of Structural Variation in the Human Genome: Haplotypes, Evolution, and Relationship to Disease". Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:14226090.
Pełny tekst źródłaUsher, Christina Leigh. "Structural Forms of the Human Amylase Locus and Their Relationships to SNPs, Haplotypes, and Obesity". Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:17467224.
Pełny tekst źródłaMedical Sciences
Santoro, Andreia [UNESP]. "Identificação de Single Nucleotilde Polymorphisms (SMPs) no gene Nove-cis-epoxicaroteníde dioxigenase (NCED) em Eucalyptus". Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/92455.
Pełny tekst źródłaCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Florestas de eucalipto no Brasil estão entre os ecossistemas mais produtivos do mundo. A madeira do eucalipto é principalmente utilizada pelas empresas de papel e celulose. Contudo, fatores abióticos e bióticos afetam a expansão dessas florestas. A disponibilidade de água é uma das maiores limitações para o desenvolvimento das espécies, afetando a produção de biomassa. O hormônio ácido abscísico (ABA) desencadeia respostas de resistência a estresses abióticos, em particular a seca. O objetivo deste trabalho foi identificar Single Nucleotide Polymorphisms (SNPs) no gene NCED (nove-cis-epoxicarotenóide dioxigenase), da rota biossintética do ácido abscísico (ABA), em Eucalyptus. Através da utilização da sequencia de aminoácido da enzima de Arabidopsis (AtNCED3) e do banco de dados de Expressed Sequence Tags (ESTs) de Eucalyptus foi possível o desenvolvimento de três oligonucleotídeos, os quais amplificaram a região desejada do gene. Então, primers específicos foram desenhados e os produtos de amplificação de diferentes indivíduos submetidos ao sequenciamento direto. O alinhamento e as análises das sequencias revelaram a ocorrência de sete SNPs no gene NCED, em uma região de 1230 pares de bases. A razão transição/transversão foi 1.33. Após a predição da proteína, no site Softberry e Expasy, foram verificados cinco SNPs presentes na região codificadora, os quais geraram mutações sinônimas. Através do software DnaSP, sete haplótipos foram encontrados na amostra de 65 indivíduos gerando 15 genótipos, distribuídos entre as espécies E. grandis, E. urophylla e no híbrido Urograndis. Para os sete sítios polimórficos foram desenhados conjuntos de primers específicos que permitirão a genotipagem em larga escala para estudos de genética de população e em programas de melhoramento assistido
Eucalyptus plantations in Brazil are among the most productive ecosystems in the world. The eucalyptus wood has its principal use in the paper and cellulose industry. However, abiotic and biotic factors affect the expansion of forest plantation. Water availability is the major limitation to development of species affecting biomass production. The plant hormone abscisic acid (ABA) triggers resistance responses to abiotic stresses, in particular to drought. The objective of this study was to identify Single Nucleotide Polymorphism (SNPs) in nine-cis-epoxycarotenoid dioxygenase (NCED), enzyme of ABA biosynthetic pathway, in Eucalyptus. Through the utilization of amino acid sequence of this enzyme of Arabidopsis (AtNCED3) and using availability Expressed Sequence Tags (ESTs) database of Eucalyptus, as possible the development of three PCR primers that amplified the desirable regions of the gene. Thus, specifics primers were designed and amplification products of different individuals submitted to direct sequencing. The alignment and analysis of sequences revealed the occurence of seven SNPs in NCED gene, in a region of 1230 base pairs. The rate of transition/transversion was 1.33. After the prediction of protein, by the sites Softberry and Expasy, it was verified five SNPs, in coding region, that generated synonymous substitutions. Using the DnaSP program, seven haplotypes were found in a sample of 65 individuals, consisting of the species E. grandis, E. urophylla and the hybrid Urograndis. For these seven polymorphic sites were designed SNPs markers sets that will allow large-scale genotyping for population genetic studies and assisted breeding programs
Certain, Laura K. "Genetic profiling of drug resistance in Plasmodium falciparum /". Thesis, Connect to this title online; UW restricted, 2007. http://hdl.handle.net/1773/10252.
Pełny tekst źródłaSilva, Lilianne Brito da. "CaracterizaÃÃo clÃnica, hematolÃgica e molecular dos pacientes com anemia falciforme em Fortaleza, CearÃ". Universidade Federal do CearÃ, 2009. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=3637.
Pełny tekst źródłaIntroduÃÃo: A anemia falciforme à o resultado de uma mutaÃÃo pontual (GAGGTG) no cÃdon do gene da globina β, conduzindo a uma substituiÃÃo de Ãcido glutÃmico por valina na sexta posiÃÃo da cadeia polipeptÃdica. A anemia falciforme apresenta manifestaÃÃes clÃnicas heterogÃneas, que podem ser relacionadas ao tipo de haplÃtipo associado ao gene da HbS e aos nÃveis de HbF. Objetivo: CaracterizaÃÃo clÃnica, hematolÃgica e molecular dos pacientes com anemia falciforme em Fortaleza, CearÃ. Metodologia: Foram analisados 47 pacientes com anemia falciforme, adultos e de ambos os sexos. A determinaÃÃo dos valores hematolÃgicos foi realizada em contador automÃtico de cÃlulas sangÃÃneas; a determinaÃÃo da presenÃa de HbSS foi realizada por eletroforese em pH alcalino em fitas de acetato de celulose e por eletroforese de diferenciaÃÃo em Ãgar-fostato pH 6.2; os nÃveis de HbF foram determinados pela tÃcnica da desnaturaÃÃo alcalina; e a anÃlise dos haplÃtipos da mutaÃÃo ÃS foi realizada por meio da tÃcnica da reaÃÃo em cadeia mediada pela polimerase para polimorfismo dos comprimentos dos fragmentos de restriÃÃo (PCR-RFLP). As anÃlises estatÃsticas foram desenvolvidas no programa GraphPad Prism (versÃo 5.0) e o nÃvel de significÃncia estabelecido foi p < 0,05. Resultados: A distribuiÃÃo dos haplÃtipos do gene da βS-globina, 63% do tipo Bantu, 25% do tipo Benin e 12% do tipo AtÃpico, està em conformidade com a observada para a populaÃÃo brasileira, em que o haplÃtipo Bantu à o mais prevalente, seguido pelo Benin e Senegal. NÃo houve diferenÃa significativa entre o presente estudo e os resultados encontrados no Rio de Janeiro, Porto Alegre, Campinas e RibeirÃo Preto; porÃm uma diferenÃa significativa foi observada quando o estudo foi comparado aos resultados obtidos em Salvador, BelÃm, Amazonas e por outros pesquisadores no CearÃ. A distribuiÃÃo das freqÃÃncias dos haplÃtipos do gene da βS-globina nos diferentes estudos està condizente com a histÃria da formaÃÃo da populaÃÃo brasileira, exceto nos resultados do estudo anterior realizado no CearÃ, que obteve o haplÃtipo Benin com maior prevalÃncia. Conforme os dados histÃricos sobre as origens da populaÃÃo negra trazida ao estado do CearÃ, o haplÃtipo Bantu seria o mais prevalente. Na comparaÃÃo entre os haplÃtipos e as caracterÃsticas hematolÃgicas estudadas, apenas os valores de HbF e Ht apresentaram diferenÃa estatisticamente significativa. Os nÃveis de HbF foram maiores no haplÃtipo Benin, seguido do haplÃtipo Bantu, o que està em conformidade com os dados da literatura. Foi demonstrada maior presenÃa de crises vaso-oclusivas e episÃdios de pneumonia no haplÃtipo Benin/AtÃpico do que no haplÃtipo Bantu/AtÃpico; e maior presenÃa de crises de infecÃÃo urinÃria no haplÃtipo Benin/AtÃpico do que no haplÃtipo Benin/Benin. NÃo houve diferenÃa estatisticamente significativa entre os haplÃtipos Bantu/Bantu e Benin/Benin em relaÃÃo Ãs complicaÃÃes clÃnicas, entretanto foi observado que o haplÃtipo Bantu/Bantu tem uma maior freqÃÃncia em todos os eventos clÃnicos estudados quando comparado ao Benin/Benin. Dentre os resultados foi demonstrada uma tendÃncia de menor nÃmero de pacientes com crises vasos-oclusivas e Ãlceras de perna com o aumento dos nÃveis de HbF. NÃo houve diferenÃa estatisticamente significativa na comparaÃÃo entre os nÃveis de HbF e os valores de HemÃcias, Hemoglobina, HematÃcrito, LeucÃcitos e Plaquetas. ConclusÃes: A determinaÃÃo dos haplÃtipos da anemia falciforme à de grande importÃncia nÃo sà para o acompanhamento e prognÃstico dos pacientes, como tambÃm como ferramenta para estudos antropolÃgicos que contribuam no esclarecimento da origem dos africanos que tanto contribuÃram na formaÃÃo etnolÃgica, econÃmica, cultural e social do Brasil.
Introduction: The sickle cell anemia is the result of a point mutation in the β-globin gene, leading to a substitution of glutamic acid by valine at the sixth position of the polypeptide chain. The sickle cell anemia presents heterogeneous clinical manifestations, which may be related to the type of haplotype associated with the gene for HbS and HbF levels. Objective: Clinical characterization, molecular and haematological patients with sickle cell anemia in Fortaleza, CearÃ. Methods: We analyzed 47 patients with sickle cell anemia, adults of both sexes. The determination of hematological values was performed on blood cells automated meter; the determination of the presence of HbSS was performed by alkaline hemoglobin electrophoresis on cellulose acetate tapes and by differentiation electrophoresis on agar-phosphate pH 6.2; the levels of HbF were determined by alkali denaturation technique; and the analysis of the haplotypes of the ÃS mutation was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Statistical analysis was developed in the program GraphPad Prism (version 5.0) and the level of significance was set p <0.05. Results: The distribution of the haplotypes of βS-globin gene - 63% of the Bantu type, 25% of the Benin type and 12% atypical â was in conformity with that observed for the entire Brazilian population, in which the Bantu haplotype is most prevalent, followed by the Benin and Senegal. There was no significant difference between the results found in this study and those found for the cities of Rio de Janeiro, Porto Alegre, Campinas and RibeirÃo Preto; but there was a significant difference with the results obtained for the cities of Salvador and BelÃm and the state of Amazonas, and by other researchers in CearÃ. The distribution of haplotype frequencies of the βS-globin gene in the different studies is in line with the history of the formation of the Brazilian population, except for the results of a previous study carried out in CearÃ, in which the Benin haplotype was found to be most prevalent. According to the historical information on the origins of the slave population brought to CearÃ, the Bantu haplotype should be the most prevalent. In the comparison between the haplotypes and the haematological characteristics studied, only the values of HbF and Ht showed statistically significant difference. The levels of HbF were higher in the Benin haplotype, followed by the Bantu haplotype, which is in accordance with the literature. Was demonstrated greater presence of painful episodes and episodes of pneumonia in Benin haplotype/Atypical haplotype than in Bantu/Atypical and increased presence of urinary infection crises in Benin haplotype/Atypical haplotype than in Benin/Benin. There was no statistically significant difference between the haplotypes Bantu/Bantu and Benin/Benin for clinical complications, however it was observed that the haplotype Bantu/Bantu has a higher frequency in all studied clinical events when compared to Benin/Benin. Among the results was shown a trend of fewer patients with painful episodes and of leg ulcers with increased levels of HbF. There was no statistically significant difference in the comparison between the levels of HbF and the values of red blood cells, hemoglobin, hematocrit, leukocytes and platelets. Conclusions: The determination of haplotypes of sickle cell anemia is of great importance not only for monitoring and prognosis of patients, but also as a tool for anthropological studies which help in clarifying the origin of Africans who have contributed so much in training ethnological, economic, cultural and social Brazil.
Borden, William Calvin. "Phylogeography of Smallmouth Bass (Micropterus Dolomieu) and Comparative Myology of the Black Bass (Micropterus, Centrarchidae)". Cleveland State University / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=csu1209066783.
Pełny tekst źródłaLi, Na. "Modeling and inference for linkage disequilibrium and recombination /". Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/9532.
Pełny tekst źródłaAshford, Blair Donald. "Investigations into the selective neutrality of mitochondrial DNA haplotypes in hatchery strain brook charr (Salvelinus fontinalis)". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp04/mq24438.pdf.
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