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91	Estudo de associação entre genes do sistema dopaminérgico e esquizofrenia / Study of association between genes of the dopaminergic system and schizophrenia Quirino Cordeiro Junior 16 August 2007 (has links) Evidências de estudos genético-epidemiológicos têm demonstrado a existência de um fator de risco genético para o desenvolvimento da esquizofrenia. Na presente Tese, um total de 245 pacientes com esquizofrenia e 834 controles foi selecionado com o objetivo de investigar a diferença na distribuição de alelos e genótipos de seis polimorfismos de quatro diferentes genes do sistema dopaminérgico nesses dois grupos: 1. TaqI A1/A2 do DRD2 - rs1800497; 2. -141C (Ins/Del) do DRD2 - rs1799732; 3. Ser-9-Gly do DRD3 - rs6280; 4. VNTR da região 3´ não-codificadora do SLC6A3; 5. A1343G do SLC6A3 - rs6347; 6. A/G da região 3´ não-codificadora do COMT - rs165599. Os resultados mostraram associação dos polimorfismos -141C (Ins/Del) do DRD2 (rs1799732) e A1343G do SLC6A3 (rs6347) com esquizofrenia na amostra investigada. / Evidences from genetic epidemiological studies have demonstrated the existence of a genetic risk factor for schizophrenia. In the present work a total of 245 schizophrenic patients and 834 controls were selected to investigate differences in the allelic and genotypic distribution of six polymorphisms from four different genes of the dopaminergic system between the groups: 1. TaqI A1/A2 of the DRD2 - rs1800497; 2. -141C (Ins/Del) of the DRD2 - rs1799732; 3. Ser-9-Gly of the DRD3 - rs6280; 4. VNTR in the 3\'-untranslated region of the SLC6A3; 5. A1343G of the SLC6A3 - rs6347; 6. A/G in the 3\'-untranslated region of the COMT - rs165599. The results have found an association of the polymorphisms -141C (Ins/Del) of the DRD2 (rs1799732) and A1343G of the SLC6A3 (rs6347) with schizophrenia in the investigated sample. Alelos Catecol O-metiltransferase Esquizofrenia Estudos de casos e controles Receptores de dopamina D3 Receptores dopaminérgicos do tipo D2 Transtornos psicóticos Alleles Case-control studies Catechol O-methyltransferase Psychotic disorders Receptors dopamine D2 Receptors dopamine D3 Schizophrenia
92	Estudios de diversidad genética en poblaciones de maíz (Zea mays L.) evaluadas con microsatélites Bedoya Salazar, Claudia A. 28 January 2013 (has links) En este trabajo de Tesis se evalúo de manera extensiva la diversidad genética presente en los maíces nativos de Latinoamérica, combinando datos fenotípicos y genotípicos, con dos propósitos diferentes. El primero, un estudio donde la diversidad genética, las relaciones interpoblacionales y la estructura poblacional de los materiales nativos permitieron ligar aspectos históricos, antropológicos y arqueológicos del maíz para crear una historia consolidada de la migración del maíz desde su centro de origen en Mesoamérica hacia el Caribe y Sudamérica. El segundo, es explorado el potencial de las razas de maíz para proporcionar nuevos alelos favorables para mejoramiento. La evaluación fenotípica y genotípica conjunta de accesiones del Banco de Germoplasma con material mejorado por CIMMYT permitió identificar fuentes de variación alélica importante para algunos caracteres de interés como tolerancia a la sequía. La caracterización de la diversidad genética de los materiales nativos para la conservación y explotación con fines de mejoramiento es un enfoque muy prometedor en particular con el desarrollo constante de nuevas herramientas genéticas. / In this thesis work, the genetic diversity of Latin American maize landraces was evaluated extensively combining phenotypic and genotypic data, for two different purposes. First, to study the genetic diversity, relationships, and population structure of native materials allowing the linkage of historical, anthropological and archaeological data to create a consolidated history of maize migration from its origin center in Mesoamerica towards The Caribbean and South America. Second, to explore the potential of maize landraces to provide new elite alleles for breeding, the phenotypic and genotypic characterization of gene bank accessions compared to improved material from CIMMYT allowed the identification of important sources of allelic variation for traits of interest including drought tolerance. The characterization of native genetic diversity for conservation and exploitation towards breeding is a very promising approach, especially considering on going development of new genetic tools and methodologies 57 - Biologia
93	The Immunogenetics of Dental Caries McCarlie, Van Wallace, Jr. January 2010 (has links) Indiana University-Purdue University Indianapolis (IUPUI) / Background: Bacterial adherence to the acquired dental pellicle, important in caries, is mediated by receptor-adhesin interactions such as Streptococcus mutans antigen I/II (I/II). Ten I/II epitopes from the A, V, P and C regions were chosen to determine their reactivity in human saliva. Underlying the body’s ability to immunologically respond to bacteria that lead to caries are the human leukocyte antigen (HLA) genes, specifically HLA class II (HLA-II) genes that control antigen presentation. Previous studies suggested that a specific HLA biomarker group (HLA-DRB104) may have differential control of immune responses to I/II. However, it was not known whether secretory IgA (SIgA) responses to the selected epitopes from HLA-DRB104 positive subjects were different compared to their non-biomarker counterparts (negative), or across other caries factors, since no study to date had thus assessed these questions. Methods: Per IRB approval, the study population was divided into age, sex and race matched DRB104 positive (n=16) and negative groups (n=16). SIgA-epitope (and whole cell) reactivity was determined using ELISA. Other caries factors were measured. Subjects received a clinical exam by a trained examiner. ix Differences between DRB104 positive and negative groups were examined using a two-sided, two-sample t-test. Results: DRB104 positive subjects had numerically, but not statistically, higher reactivity to 9 out of 10 epitopes, the exception being residues 834-853 from the V and P regions of I/II across multiple measures. Though statistically insignificant, DRB104 positive subjects also exhibited 25-30 μg mL-1 less total IgA (TIgA) than negative counterparts. All clinical caries data proved inconclusive when comparing groups, likely due to exogenous factors and sample size. Conclusion: DRB104 positive subjects showed a trend toward lower TIgA. Moreover, they also showed a lower SIgA response across multiple measures to 834-853, the I/II V and P region epitope. This region forms a sort of functional epicenter involved in collaboration between domains along the entire I/II antigen, and governs the region involved in initial attachment to the acquired dental pellicle. This region may be involved in an in vivo discontinuous conformationally specific immunogenic epitope that serves as an HLA-II binding motif which remains elusive. HLA-DRB104 Alleles Human Leukocyte Class II Genes Dental Caries Immunogenetics Dental Caries -- immunology Saliva -- immunology Streptococcus Mutans -- immunology Dental Pellicle -- immunology Epitopes -- genetics Immunoglobulin A, Secretory -- genetics HLA-DR Antigens -- genetics
94	Estudo caso-controle da região HLA de pacientes com Granulomatose com poliangeíte / Case-control study of HLA region in Brazilian carriers of Granulomatosis with Polyangiitis (Wegener\'s) Tavares, Marcos Soares 19 December 2016 (has links) Os alelos HLA-DPB104 e HLA-DRB115 estão fortemente associados à Granulomatose com poliangeíte (GPA). Neste estudo, analisamos se os pacientes brasileiros com diagnóstico de GPA apresentam uma base genética na região HLA. Conduzimos um estudo caso-controle, em que analisamos os alelos da região HLA classe I e II em 55 pacientes com diagnóstico de GPA, atendidos no ambulatório de Vasculites Pulmonares do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, e comparamos com os resultados de 110 controles saudáveis. Comparamos também quatro diferentes apresentações clínicas da GPA e a positividade do anticorpo anticitoplasma de neutrófilos (ANCA) com os alelos da região HLA classe I e II. Foi também construída uma árvore de decisões, usando o algoritmo de CART, para a verificação da associação entre os alelos HLA e GPA. Como resultados, observamos que a GPA esteve fortemente associada à presença dos alelos DPB104 e DRB115 (p = 0,007, odds ratio [OR]: 2,9, 95% intervalo de confiança [IC]: 1,09-3,8; p = 0,006, OR: 2,87, 95% IC: 1,44-4,75, respectivamente) e não à presença do alelo DRB104. O alelo DRB113 esteve associado com proteção contra GPA (p = 0,042, OR: 0,42, 95% CI: 0,21-0,99). O alelo DPB104 esteve significativamente associado a GPA e ANCA-C positivo (OR: 5,47) e à presença de insuficiência renal aguda (p = 0,01037). Concluímos que houve uma interdependência significativa entre os alelos DPB10401, DPB10402, DRB113, C2 e GPA. Na população estudada, quando o alelo DPB104 esteve presente em homozigose, o risco de GPA foi de 81%. Quando o alelo DPB10401 esteve ausente ou em heterozigose com o DPB10402, como o outro alelo, ou DPB10402 esteve em homozigose, o risco da GPA foi de 52,9%. No caso de ausência dos alelos DPB10401, DPB10402 e DRB113, a presença do alelo C2 aumentou o risco da GPA para 62,5%. Finalmente, na ausência do alelo DPB10401 e DPB10402 e na presença do alelo DRB113, o risco de GPA diminuiu para 0% / The alleles HLA-DPB104 and HLA-DRB115 are strongly associated with granulomatosis with polyangiitis (GPA). In this study, we examined whether Brazilian patients with GPA had an HLA region genetic background. We conducted a case-control study, in which we analysed alleles of HLA region class I and II from 55 patients with GPA (at the Pulmonary Vasculitis Clinic of the University of São Paulo) and compared the results with those from 110 healthy controls. Comparisons were also performed for 4 different clinical presentations of GPA and anti-neutrophil cytoplasmic antibody (ANCA) positivity and the HLA class I and II region alleles. A tree model decision analysis was conducted using CART algorithm. Our results showed that GPA was strongly associated with alleles DPB104 and DRB115 (p = 0.007, odds ratio [OR]: 2.9, 95% confidence interval [CI]: 1.09-3.8; p = 0.006, OR: 2.87, 95% CI: 1.44-4.75, respectively) and not with the allele DRB104. DRB113 allele was associated with protection against GPA (p = 0.042, OR: 0.42, 95% CI: 0.21-0.99). DPB104 was significantly associated with GPA plus positive C-ANCA (OR: 5.47) and acute renal failure (p = 0.01037). We concluded that there was a significant interdependence among alleles and GPA. In our population, when allele DPB104 was presented in homozygous, the risk of GPA was 81%. When DPB10401 allele was absent or heterozygous with DPB10402 as the other allele, or DPB10402 was homozygous, the risk of disease was 52.9%. If DPB10401, DPB10402, and DRB113 were absent, the presence of C2 increased the risk of GPA to 62.5%. Finally, in the absence of DPB10401 and DPB10402 and the presence of DRB113, the risk of GPA decreased to 0% Alelos Alleles Brasil Brazil Case-control studies Estudos de casos e controles Ethnic groups Frequência do gene Gene frequency Genes Granulomatose com poliangiíte Granulomatosis with polyangiitis Grupos étnicos Herança multifatorial MHC class I Multifactorial inheritance Predisposição genética para doença Reação em cadeia da polimerase Teste de histocompatibilidade
95	Estudo caso-controle da região HLA de pacientes com Granulomatose com poliangeíte / Case-control study of HLA region in Brazilian carriers of Granulomatosis with Polyangiitis (Wegener\'s) Marcos Soares Tavares 19 December 2016 (has links) Os alelos HLA-DPB104 e HLA-DRB115 estão fortemente associados à Granulomatose com poliangeíte (GPA). Neste estudo, analisamos se os pacientes brasileiros com diagnóstico de GPA apresentam uma base genética na região HLA. Conduzimos um estudo caso-controle, em que analisamos os alelos da região HLA classe I e II em 55 pacientes com diagnóstico de GPA, atendidos no ambulatório de Vasculites Pulmonares do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, e comparamos com os resultados de 110 controles saudáveis. Comparamos também quatro diferentes apresentações clínicas da GPA e a positividade do anticorpo anticitoplasma de neutrófilos (ANCA) com os alelos da região HLA classe I e II. Foi também construída uma árvore de decisões, usando o algoritmo de CART, para a verificação da associação entre os alelos HLA e GPA. Como resultados, observamos que a GPA esteve fortemente associada à presença dos alelos DPB104 e DRB115 (p = 0,007, odds ratio [OR]: 2,9, 95% intervalo de confiança [IC]: 1,09-3,8; p = 0,006, OR: 2,87, 95% IC: 1,44-4,75, respectivamente) e não à presença do alelo DRB104. O alelo DRB113 esteve associado com proteção contra GPA (p = 0,042, OR: 0,42, 95% CI: 0,21-0,99). O alelo DPB104 esteve significativamente associado a GPA e ANCA-C positivo (OR: 5,47) e à presença de insuficiência renal aguda (p = 0,01037). Concluímos que houve uma interdependência significativa entre os alelos DPB10401, DPB10402, DRB113, C2 e GPA. Na população estudada, quando o alelo DPB104 esteve presente em homozigose, o risco de GPA foi de 81%. Quando o alelo DPB10401 esteve ausente ou em heterozigose com o DPB10402, como o outro alelo, ou DPB10402 esteve em homozigose, o risco da GPA foi de 52,9%. No caso de ausência dos alelos DPB10401, DPB10402 e DRB113, a presença do alelo C2 aumentou o risco da GPA para 62,5%. Finalmente, na ausência do alelo DPB10401 e DPB10402 e na presença do alelo DRB113, o risco de GPA diminuiu para 0% / The alleles HLA-DPB104 and HLA-DRB115 are strongly associated with granulomatosis with polyangiitis (GPA). In this study, we examined whether Brazilian patients with GPA had an HLA region genetic background. We conducted a case-control study, in which we analysed alleles of HLA region class I and II from 55 patients with GPA (at the Pulmonary Vasculitis Clinic of the University of São Paulo) and compared the results with those from 110 healthy controls. Comparisons were also performed for 4 different clinical presentations of GPA and anti-neutrophil cytoplasmic antibody (ANCA) positivity and the HLA class I and II region alleles. A tree model decision analysis was conducted using CART algorithm. Our results showed that GPA was strongly associated with alleles DPB104 and DRB115 (p = 0.007, odds ratio [OR]: 2.9, 95% confidence interval [CI]: 1.09-3.8; p = 0.006, OR: 2.87, 95% CI: 1.44-4.75, respectively) and not with the allele DRB104. DRB113 allele was associated with protection against GPA (p = 0.042, OR: 0.42, 95% CI: 0.21-0.99). DPB104 was significantly associated with GPA plus positive C-ANCA (OR: 5.47) and acute renal failure (p = 0.01037). We concluded that there was a significant interdependence among alleles and GPA. In our population, when allele DPB104 was presented in homozygous, the risk of GPA was 81%. When DPB10401 allele was absent or heterozygous with DPB10402 as the other allele, or DPB10402 was homozygous, the risk of disease was 52.9%. If DPB10401, DPB10402, and DRB113 were absent, the presence of C2 increased the risk of GPA to 62.5%. Finally, in the absence of DPB10401 and DPB10402 and the presence of DRB113, the risk of GPA decreased to 0% Alelos Brasil Estudos de casos e controles Frequência do gene Granulomatose com poliangiíte Grupos étnicos Herança multifatorial Predisposição genética para doença Reação em cadeia da polimerase Teste de histocompatibilidade Alleles Brazil Case-control studies Ethnic groups Gene frequency Genes Granulomatosis with polyangiitis MHC class I Multifactorial inheritance
96	Jesus Christ’s humanity in the contexts of the pre-fall and post-fall natures of humanity: a comparative and critical evaluative study of the views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley Mwale, Emanuel 12 1900 (has links) Bibliography: leaves 653-669 / Before God created human beings, He devised a plan to save them in case they sinned. In this plan, the second Person of the Godhead would become human. Thus, the incarnation of the second Person of the Godhead was solely for the purpose of saving fallen, sinful human beings. There would have been no incarnation if human beings had not sinned. Thus, the nature of the mission that necessitated the incarnation determined what kind of human nature Jesus was to assume. It was sin that necessitated the incarnation – sin as a tendency and sin as an act of disobedience. In His incarnational life and later through His death on Calvary’s cross, Jesus needed to deal with this dual problem of sin. In order for Him to achieve this, He needed to identify Himself with the fallen humanity in such a way that He would qualify to be the substitute for the fallen humanity. In His role as fallen humanity’s substitute, He would die vicariously and at the same time have sin as a tendency rendered impotent. Jesus needed to assume a human nature that would qualify Him to be an understanding and sympathetic High Priest. He needed to assume a nature that would qualify Him to be an example in overcoming temptation and suffering. Thus, in this study, after comparing and critically evaluating the Christological views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley, I propose that Jesus assumed a unique post-fall (postlapsarian) human nature. He assumed the very nature that all human beings since humankind’s fall have, with its tendency or leaning towards sin. However, unlike other human beings, who are sinners by nature and need a saviour, Jesus was not a sinner. I contend that Jesus was unique because, first and foremost, He was conceived in Mary’s womb by the power of the Holy Spirit and was filled with the Holy Spirit throughout His earthly life. Second; He was the God-Man; and third, He lived a sinless life. This study contributes to literature on Christology, and uniquely to Christological dialogue between Evangelical and Seventh-day Adventist theologians. / Philosophy, Practical and Systematic Theology / D. Phil. (Systematic Theology) Adoptionism Alleles Anhypostatic Christology Anthropotokos Alternative Christology Apollinarianism Apthartodocetism Arianism Augustinian model Autosomal chromosomes Autosomal inheritance Born-again Christology Chalcedonian creed Christology from above Christotokos Chromosomes Chromosomal abnormalities Cloning Co-dominance Communicatio idiomatum Complementary base pairing Cri-du-chat syndrome Deoxyribonucleic acid (DNA) Diploid cell Docetism Dominant gene Down syndrome Dynamic incarnation Dynamic monarchianism Eastern Orthodox Christology Ebionitism Embryogenesis Eutychianism Evangelical Christology Existential Christology Functional Christology Genes Gene mutation Gene expression Genome Genotype Gnosticism Hamartiology Haploid cell Heterozygous History of Jesus’ Christology Homoiousios Theology Homozygous Human cloning Immaculate conception Incarnation Incarnational life Inheritance Karyotype Kenoticism Klinefelter syndrome Logos-flesh Christology Meiosis Mitosis Modalistic monarchianism Monarchianism Monophysitism Mutation Nestorianism Nicene Creed One-nature Christology Ontological Christology Organogenesis Patripassianism Phenotype Polygenic inheritance Post lapsarian view/model Prelapsarian view/model Recessive gene Roman Catholic Christology Sabellianism Seventh-day Adventist Christology Sex chromosomes Sex-linked inheritance Speculative Christology Theotokos Turner syndrome Two-natures Christology Unique post-fall Christology Socinianism Soteriology Theotokos Turner syndrome Two-natures Christology Unique post-fall Christology Virginal conception 231.4 Seventh-Day Adventists -- Doctrines Salvation -- Seventh-Day Adventists Fall of man -- History of doctrines Jesus Christ -- History of doctrines Sequerra, Jack Erickson, Millard J. Gulley, Norman R.

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