48 resultados para Marcadores genéticos - Teses

em Universidade Federal do Rio Grande do Norte(UFRN)


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The elaboration of profiles with characteristics that can be parameters in the different categories of sports modalities and the investment in scientific studies have revealed a significant importance in the development of new generations of athletes. Based in the exposed, the purpose of this study was to identify and compare the somatotype characteristics, physical qualities and genetic markers of Brazilian male volleyball players in the 14-17 category playing at different levels (international, national and regional). We used a scale, stadiometer, pachymeter, and adipometer to evaluate somatotype, attack and block reach test, medicine ball toss, 30-meter agility test , the AAHPER -30 test to evaluate basic physical qualities and the dermatoglyphic method to identify genetic markers. The results show the superiority of the national team over the other squads in the somatotype component (ectomorphy), and in the level of basic physical qualities. We found no significant difference in genetic markers among the teams studied. We conclude that Brazilian volleyball players at different performance levels have characteristics peculiar to the sport, with height and physical qualities being significantly different among these teams. The results confirm de necessity of knowing the athletes specific characteristics when dealing with high performance teams using nutrition, medicine, physiology and genetics specific knowledges to achieve a better sportive development

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The aim of this research was to analyse genetic markers, anthropometry and basic physical qualities in the differret stages of sexual maturation in swimmers in Paraíba. It is characterised as a descriptive cross sectional study. The sample was composed of 119 swimmers (males) that were divided among the stages of sexual maturation, from 7 to 17,9 years of age. They were associated to a local federation, the Confederação Brasileira de Desportes Aquáticos. The tests used were: genetic markers dermatoglyphics; Anthropometry body mass, stature, arm span, fat percentage and somatotype; physical qualities speed tests (25 meters crawl), strength (vertical jump) to inferior limbs, verarm throwing arremesso of a 2kg medicineball to superior limbs and abdominal), resistence (12 minutes to swimming), agility (he multistage 20-meter shuttle run test), flexibility (sit and reach test ) and coodination (stroke index); power of swimming (mean velocity in 25 meters mutiplied by body mass) and the self assessment of the sexual maturation supervised by a pediatric specialist. In the analyses we used the test normality of Shapiro-Wilk, then, we used ANOVA- one way followed by Post-Hoc test of Scheffé. The data showed in dermatogliphics a genetic tendence to velocity (L>W) with a predominance of the meso-ectomorphic somatotype profile; in relation to the physical qualities there was an evolution of the results in every stage due to the antropometric variables, except in the coordination tests. There were no significative differences between the stages. We conclude that swimming in Paraíba is composed of a signicative number of velocists with a mesomorph somatotype profile and low fat percentage, and that made it posssible to us to recomend that the trainings must be individual and according to personal characteristics of each athlete, and that the used variables must be specific for every region of the country. This dissertation presents a relation of multidiciplinar interface and its content has an application in Physical Education and Medicine

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Preeclampsia is a multifactorial disease of unknown etiology that features with wide clinical symptoms, ranging from mild preeclampsia to severe forms, as eclampsia and HELLP syndrome. As a complex disease, preeclampsia is also influenced by genetic and environmental factors. Aiming to identify preeclampsia susceptibility genes, we genotyped a total of 22 genetic markers (single nucleotides polymorphisms SNPs) distributed in six candidates genes (ACVR2A, FLT1, ERAP1, ERAP2, LNPEP e CRHBP). By a case-control approach, the genotypic frequencies were compared between normotensive (control group) and preeclamptic women. The case s group was classified according to the disease clinical form in: preeclampsia, eclampsia and HELLP syndrome. As results we found the following genetic association: 1) ACVR2A and preeclampsia; 2) FLT1 and severe preeclampsia; 3) ERAP1 and eclampsia; 4) FLT1 and HELLP syndrome. When stratifying preeclampsia group according to symptoms severity (mild and severe preeclampsia) or according to the time of onset (early and late preeclampsia), it was detected that early preeclampsia is strongly associated to risk preeclampsia, eclampsia and HELLP syndrome have different genetic bases, although FLT1 gene seems to be involved in preeclampsia and HELLP syndrome pathophisiology

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Preeclampsia is a multifactorial disease of unknown etiology that features with wide clinical symptoms, ranging from mild preeclampsia to severe forms, as eclampsia and HELLP syndrome. As a complex disease, preeclampsia is also influenced by genetic and environmental factors. Aiming to identify preeclampsia susceptibility genes, we genotyped a total of 22 genetic markers (single nucleotides polymorphisms SNPs) distributed in six candidates genes (ACVR2A, FLT1, ERAP1, ERAP2, LNPEP e CRHBP). By a case-control approach, the genotypic frequencies were compared between normotensive (control group) and preeclamptic women. The case s group was classified according to the disease clinical form in: preeclampsia, eclampsia and HELLP syndrome. As results we found the following genetic association: 1) ACVR2A and preeclampsia; 2) FLT1 and severe preeclampsia; 3) ERAP1 and eclampsia; 4) FLT1 and HELLP syndrome. When stratifying preeclampsia group according to symptoms severity (mild and severe preeclampsia) or according to the time of onset (early and late preeclampsia), it was detected that early preeclampsia is strongly associated to risk preeclampsia, eclampsia and HELLP syndrome have different genetic bases, although FLT1 gene seems to be involved in preeclampsia and HELLP syndrome pathophisiology

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Background: Leprosy can cause severe disability and disfigurement and is still a major health in different parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy patients. The outcome of infection is in part due to host genes that influence control of the initial infection and the host´s immune response to that infection. Aim: Evaluate if polymorphisms type SNP in the 17q118q21 chromosomic region contribute to development of leprosy in Rio Grande do Norte population. Material and methods: A sample composed of 215 leprosy patients and 229 controls drawn from the same population were genotyped by using a Snapshot assay for eight genes (NOS2A, CCL18, CRLF3, CCL23, TNFAIP1, STAT5B, CCR7 and CSF3) located in chromosomic region 17q118q21. The genotype and allele frequency were measured and statistical analysis was performed by chi-square in SPSS version 15 and graph prism pad version 4 software. Results: Ours results indicated that the markers NOS2A8277, NOS2A8rs16949, CCR78rs11574663 and CSF38rs2227322 presented strong association with leprosy and their risk genotype were GG, TT, AA and GG respectively. The risk genotypes for all markers associated to leprosy presented recessive inheritance standard. When we compared the interaction among the markers in different combination we find that the marker NOS2A8277 associated with CCR78rs11574663 presented highest risk probability to development of leprosy. When we evaluated the haplotype of the risk markers it was found a haplotype associated with increase of the protection (CSF38rs22273228CC, CCR78 rs115746638GA, NOS2A8rs169498CT and NOS2A82778GA). The association of the clinical forms paucibacilary and multibacilary with markers showed that to the markers NOS2A8 2778GG, CCR78rs115746638AA and CSF38rs22273228GG there were a strong influence to migration to multibacilary pole and to marker NOS2A8rs169498TT the high proportion was found to the paucibacilary form. Conclusions: Changes in the genes NOS2A, CCR7 and CSF3 can influence the immune response against Mycobacterium leprae. The combination among these polymorphisms alters the risk probability to develop leprosy. The markers type SNP associated to development of the leprosy also are linked to clinical forms and its severity being the polymorphism NOS2A8rs169498TT associated with paucibacilar form and the polymorphisms NOS2A82778GG, CCR78rs115746638AA and CSF38rs22273228GG associated to multibacilar form

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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The objective of this study was to identify DNA polymorphisms at the genes leptin, β-lactoglobulin and pituitary-specific transcription factor in three genetic groups of Holstein x Guzerat dairy cows and investigate the relationship between their genotypes and the composition and quality of milk of dairy cows. Samples were collected in August 2009, being 113 blood samples from lactating crossbred cows and 58 milk samples. For analysis of DNA polymorphisms blood samples were collected, analyzed later in the Genetic Laboratory affiliated to the Zootechny Institute of São Paulo and individual milk samples were collected according to standards established by the laboratory of Management Program of Northeast Dairy Herds (PROGEN), at Federal Rural University of Pernambuco (UFRPE) for analysis of milk composition and quality. The characterization of genotypes was performed by PCR-RFLP, for which were designed specific primers for each studied gene and restriction enzymes Kpn2I, HaeIII and HinfI that cut the DNA of the following genes: leptin, β-lactoglobulin and a PIT, respectively. The leptin estimate genotypic frequence were CC 0.112, TT 0.225 and CT 0.661, for β-lactoglobulin were AA 0.136, AB 0.323 and BB 0.539, and for PIT were ++ 0.655, -- 0.311 and +- 0.032. The results show that the population is in Hardy-Weinberg disequilibrium for leptin, β-lactoglobulin and a PIT due to excess of heterozygotes in the population, however, as these genes are associated with the milk production it is considered that the animals have genetic potential for milk production in the Brazilian semi-arid conditions. Through the characterization of the studied herd there were not found implications of the polymorphism of leptin, β-lactoglobulin and PIT in the composition and quality of milk from cows in the different genetic groups 1/2, 3/4 and 7/8 Holstein x Guzerat. Key words: β-lactoglobulin, crossbred cows, leptin, PCR-RFLP, PIT1, semi-arid.

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The development of complex diseases such as preeclampsia are determined by both environmental and genetic factors, but there is also interaction among these factors. Preeclampsia is a pregnancy-specific disorder characterized by de-novo hypertension and proteinuria after 20th week of gestation. There is a broad spectrum of clinical presentations related to hypertensive disorders of pregnancy (HDP) that can range from mild preeclampsia to eclampsia (seizures) or HELLP syndrome (Hemolysis, Elevation of Liver enzymes, Low Platelets). Those clinical outcomes might be linked to different pathological mechanisms. Our work aims to identify factors (i.e. genes and environmental) associated with the HDP’s clinical spectrum. Using a case-control approach, we selected a total of 1498 pregnant women for epidemiological and genetic studies, encompassing 755 normotensive (control); 518 preeclampsia; 84 eclampsia; and 141 HELLP. Women were genotyped for 18 SNPs across 5 candidate genes (FLT1, ACVR2A, ERAP1, ERAP2 and LNPEP). For the environmental factors, we found maternal age, parity status and pre-gestational body mass index as important risk factors associated with disease. Genes were associated in a phenotype-specific manner: ACVR2A with early preeclampsia (rs1424954, p=0.002); FLT1 with HELLP syndrome (rs9513095, p=0.003); and ERAP1 with eclampsia (rs30187, p=0.03). Our results suggest that different genetic mechanisms along with specific environmental factors might determine the clinical spectrum of HDP. In addition, phenotype refinement seems to be an essential step in the search for complex disease genes

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Background: Leprosy can cause severe disability and disfigurement and is still a major health in different parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy patients. The outcome of infection is in part due to host genes that influence control of the initial infection and the host´s immune response to that infection. Aim: Evaluate if polymorphisms type SNP in the 17q118q21 chromosomic region contribute to development of leprosy in Rio Grande do Norte population. Material and methods: A sample composed of 215 leprosy patients and 229 controls drawn from the same population were genotyped by using a Snapshot assay for eight genes (NOS2A, CCL18, CRLF3, CCL23, TNFAIP1, STAT5B, CCR7 and CSF3) located in chromosomic region 17q118q21. The genotype and allele frequency were measured and statistical analysis was performed by chi-square in SPSS version 15 and graph prism pad version 4 software. Results: Ours results indicated that the markers NOS2A8277, NOS2A8rs16949, CCR78rs11574663 and CSF38rs2227322 presented strong association with leprosy and their risk genotype were GG, TT, AA and GG respectively. The risk genotypes for all markers associated to leprosy presented recessive inheritance standard. When we compared the interaction among the markers in different combination we find that the marker NOS2A8277 associated with CCR78rs11574663 presented highest risk probability to development of leprosy. When we evaluated the haplotype of the risk markers it was found a haplotype associated with increase of the protection (CSF38rs22273228CC, CCR78 rs115746638GA, NOS2A8rs169498CT and NOS2A82778GA). The association of the clinical forms paucibacilary and multibacilary with markers showed that to the markers NOS2A8 2778GG, CCR78rs115746638AA and CSF38rs22273228GG there were a strong influence to migration to multibacilary pole and to marker NOS2A8rs169498TT the high proportion was found to the paucibacilary form. Conclusions: Changes in the genes NOS2A, CCR7 and CSF3 can influence the immune response against Mycobacterium leprae. The combination among these polymorphisms alters the risk probability to develop leprosy. The markers type SNP associated to development of the leprosy also are linked to clinical forms and its severity being the polymorphism NOS2A8rs169498TT associated with paucibacilar form and the polymorphisms NOS2A82778GG, CCR78rs115746638AA and CSF38rs22273228GG associated to multibacilar form

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VITULLO, Nadia Aurora Vanti. Avaliação do banco de dissertações e teses da Associação Brasileira de Antropologia: uma análise cienciométrica. 2001. 143 f. Dissertaçao (Mestrado) - Curso de Mestrado em Biblioteconomia e Ciência da Informação, Pontifícia Universidade Católica de Campinas, Campinas, 2001.

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OLIVEIRA, Raimundo Muniz de. Biblioteca digital de teses e dissertaçoes: uma referencia fundamental. In: CINFORM ENCONTRO NACIONAL DE ENSINO E PESQUISA DA INFORMAÇAO,HUMANISMO E DESENVOLVIMENTO CIENTIFICO E TECNOLOGICO,7.,2007,Salvador. Anais...Salvador:UFBA, 2007.Disponivel em:www.cinform.ufba.br>. Acesso em: 27 set. 2007. Acesso em: 27 set. 2010.

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CUNHA, Jacqueline de Araújo. Biblioteca Digital de Teses e Dissertações: uma estratégia de preservação da memória científica. 2009. 141f. Dissertação (Mestrado)- Programa de Pós-Graduação em Ciência da Informação. Universidade Federal da Paraíba, João Pessoa, 2009.

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A pesquisa aborda o uso das Tecnologias de Informação e Comunicação, que vem revolucionando as atividades e ocasionando muitas mudanças relacionadas ao acesso e uso de informações. O objetivo foi analisar o grau de utilização do conhecimento científico produzido pelos Programas de Pós-Graduação das Universidades Públicas Brasileiras, através da BDTD, pelos mestrandos dos referidos programas. Nos procedimentos metodológicos realizados, procurou-se inicialmente analisar o amplo espectro da população do corpus da pesquisa. Em razão da impossibilidade de trabalhar com os Programas de Pós-Graduação como um todo, optou-se por fazer um recorte, elegendo os cursos de Pós-Graduação em Ciência da Informação, vez que estes representam o principal segmento social de interesse da pesquisa. Foi utilizado o método de estudo de usuários, onde se optou por adotar o grupo, “estudos orientados aos usuários”, que identifica as necessidades e comportamento de acesso e uso da informação. Para coletar os dados, elaborou-se um questionário semi-estruturado com 25 questões, que versavam sobre o uso, dificuldades de acesso e recuperação da informação, bem como a satisfação na utilização dessa fonte informacional. Dentre os vários resultados obtidos, podemos destacar o fato de que a maioria dos mestrandos (71,8%) só teve contato com a BDTD somente no momento em que se encontrava cursando o mestrado e, somente 24,3%, tiveram contato durante a graduação. Estes resultados representam um problema, que pode afetar o bom desempenho do projeto BDTD, o qual consiste em disseminar e divulgar a produção científica dos Programas de Pós-Graduação das Universidades Públicas Brasileiras para a sua comunidade. Foi observado também, que os mestrandos oriundos do curso de Biblioteconomia tende a ter contato com a BDTD bem mais cedo do que mestrandos de outros cursos de graduação. A fim de minimizar o problema detectado, propõe-se uma divulgação mais eficaz na graduação através de dois procedimentos: Primeiro, o docente deve fazer uma divulgação mais eficaz da BDTD junto aos discentes de todos os cursos de graduação; segundo: deverá ser feita a divulgação na mídia eletrônica, através da inserção de ícones da BDTD, nos portais dos Departamentos dos Cursos de Graduação das Universidades Públicas Brasileiras. Acredita-se que com estes procedimentos seja possível aperfeiçoar o uso dessa fonte de informação científica.