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dc.contributor.authorOliveira, Leonardo Calheiros de-
dc.date.available2023-10-17-
dc.date.available2023-10-18T12:14:58Z-
dc.date.issued2023-06-20-
dc.identifier.urihttp://repositorioinstitucional.uea.edu.br//handle/riuea/5257-
dc.description.abstractMannose-binding lectin (MBL) is an acute phase plasma protein of innate immunity, with effector and regulatory properties that play a key role in host defense against pathogenic microorganisms. MBL exerts its activity through the activation of the complement system, mechanisms of opsonization and phagocytosis, through its ability to bind to carbohydrates rich in mannose, fucose and glucosamine, present on the cell surface of several pathogenic microorganisms. However, the presence of genetic variants in exon 1 of the MBL2 gene are associated with low plasma concentrations of the protein. These variations can result in greater susceptibility to infections, especially in immunosuppressed individuals. The main objective of this study was to characterize the polymorphism of the MBL2 gene and to evaluate the possible association of genotypes and serum levels of the MBL protein with susceptibility to infections in patients with Acute Lymphoid Leukemia (ALL). A total of 122 patients with ALL treated at foundation HEMOAM were included in this study. Genotyping of exon 1 of the MBL2 gene was performed using the PCR and restriction enzyme digestion (RFLP) technique, followed by measurement of plasma levels of MBL using an immunoenzymatic assay (ELISA). The results revealed a higher frequency of the MBL*A allele (0.37) in this study population, while the MBL*D allele (0.32) was the most frequent among the variant alleles, followed by the MBL*B allele (0.31) . The MBL*C allele was not found. However, when considering the frequency of the O polymorphic allele (presence of B or D) a frequency of 0.68 was observed. The A/O genotype (0.49) was the most common and its carriers had the highest number of infections, followed by the O/O genotype (0.38) and the A/A genotype (0.13). In the period from 2015 to 2023, a total of 239 infections occurred in the study population. The most frequent infections were parasitic (n=103) and bacterial (n=69). In addition, viral (n=48) and fungal (n=19) infections were also observed. However, no significant associations were observed between MBL serum levels, types of genotypes and susceptibility to infections. This study presents the first description of the genetic variability of the MBL2 gene in patients with ALL and its association with susceptibility to infections. The results obtained contribute to a better understanding of the genetic basis of the immune response and its relationship with health and disease in the context of ALLpt_BR
dc.languageporpt_BR
dc.publisherUniversidade do Estado do Amazonaspt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectLectina ligante de manose (MBL)pt_BR
dc.subjectGene MBL2pt_BR
dc.subjectLeucemia linfoide agudapt_BR
dc.subjectDoenças infecciosaspt_BR
dc.subjectAcute lymphoid leukemiapt_BR
dc.titleCaracterização do polimorfismo do gene MBL2 em pacientes com leucemia linfoide agudapt_BR
dc.title.alternativeCharacterization of the MBL2 gene polymorphism in patients with acute lymphocytic leukemiapt_BR
dc.typeDissertaçãopt_BR
dc.date.accessioned2023-10-18T12:14:58Z-
dc.contributor.advisor1Pontes, Gemilson Soares-
dc.contributor.advisor1Latteshttp://lattes.cnpq.br/9081671233815990pt_BR
dc.contributor.referee1Pontes, Gemilson Soares-
dc.contributor.referee1Latteshttp://lattes.cnpq.br/9081671233815990pt_BR
dc.contributor.referee2Kimura, Tatiane Nayara Libório-
dc.contributor.referee2Latteshttp://lattes.cnpq.br/7764426537915981pt_BR
dc.contributor.referee3Boechat, Antônio Luiz Ribeiro-
dc.creator.Latteshttp://lattes.cnpq.br/0598831633595034pt_BR
dc.description.resumoA lectina ligante de manose (MBL) é uma proteína plasmática de fase aguda da imunidade inata, com propriedade efetoras e reguladoras que desempenham um papel fundamental na defesa do hospedeiro contra microrganismos patogênicos. A MBL exerce sua atividade por meio da ativação do sistema complemento, mecanismos de opsonização e fagocitose, através de sua capacidade de se ligar a carboidratos ricos em manose, fucose e glucosamina, presentes na superfície celular de vários microrganismos patogênicos. Contudo, a presença de variantes genéticas no éxon 1 do gene MBL2 estão associadas a baixas concentrações plasmáticas da proteína. Essas variações podem resultar em maior suscetibilidade às infecções, especialmente em indivíduos imunossuprimidos. Este estudo teve como objetivo principal caracterizar o polimorfismo do gene MBL2 e avaliar a possível associação dos genótipos e níveis séricos da proteína MBL com a susceptibilidade às infecções em pacientes portadores de Leucemia Linfoide Aguda (LLA). Um total de 122 pacientes portadores de LLA atendidos na Fundação HEMOAM foram incluídos neste estudo. A genotipagem do éxon 1 do gene MBL2 foi realizada por meio da técnica de PCR e digestão por enzimas de restrição (RFLP), seguida pela dosagem dos níveis plasmáticos de MBL por meio de um ensaio imunoenzimático (ELISA). Os resultados revelaram uma frequência maior do alelo MBL*A (0,37) nessa população de estudo, enquanto o alelo MBL*D (0,32) foi o mais frequente entre os alelos variantes, seguido pelo alelo MBL*B (0.31). O alelo MBL*C não foi encontrado. Contudo, ao se considerar a frequência do alelo polimórfico O (presença de B ou D) foi observada uma frequência de 0,68. O genótipo A/O (0,49) foi o mais comum e seus portadores apresentaram maior número de infecções, seguidas do genótipo O/O (0,38) e o genótipo A/A (0,13). No período de 2015 a 2023, um total de 239 infecções ocorreram na população de estudo. As infecções mais frequentes foram as parasitárias (n=103) e bacterianas (n=69). Além disso, também foram observadas infecções virais (n=48) e fúngicas (n=19). Contudo, não foram observadas associações significativas entre os níveis séricos da MBL, os tipos de genótipos e a suscetibilidade às infecções. Este estudo apresenta a primeira descrição da variabilidade genética do gene MBL2 em pacientes com LLA e sua associação com a suscetibilidade às infecções. Os resultados obtidos contribuem para uma melhor compreensão das bases genéticas da resposta imunológica e sua relação com a saúde e a doença no contexto da LLApt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.programPPGH -PROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS APLICADAS À HEMATOLOGIApt_BR
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