Navegando por Autor "Maia, Maria de Mascena Diniz"
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Item Análise do Polimorfismo -607 C/A (RS1946518) do gene IL-18 em pacientes com artrite reumatóide do estado de Pernambuco(2019-12-13) Moraes, Maísa Maria de; Maia, Maria de Mascena Diniz; Silva, Isaura Isabelle Fonseca Gomes da; http://lattes.cnpq.br/9915138553762710; http://lattes.cnpq.br/7051998554981575; http://lattes.cnpq.br/0862994383816032Rheumatoid arthritis (RA) is a systemic autoimmune disease that affects about 1% of the world's population, affecting both sexes. However, there is a higher incidence of cases for women than men. There is still no clarity regarding the etiology of the disease, but it knows whether it includes genetic and environmental factors. An IL-18 is a proinflammatory cytokine and its high level is qualified with a severity of inflammatory, chronic and destructive diseases. Thus, this study aimed to analyze the -607 C / A polymorphism of the IL-18 gene in patients diagnosed with RA and its relationship with disease severity. A survey was conducted with 114 patients, 111 women and 3 men resident in the city of Recife-PE. Blood collection was performed and then DNA extraction was performed, followed by amplification by conventional polymerase chain reaction (PCRc). After PCR, the samples were run on blue Green loading dye (LGC) stained 2% (w / v) agarose gel and the result visualized in UV light. Statistical analyzes were performed using univariate analysis, with significance level p <0.05, applying the one-way ANOVA test. For genotypic frequency, samples were submitted to Chi-square test, considering significant p <0.05. Patients with AA genotype show a significantly higher mean for Clinical Disease Activity Index (CDAI) (25.15 ± 11.06) when compared to the other CC and CA genotypes (16.32 ± 9.26 and 20, 49 ± 9.76) respectively. These results suggest that IL-18 may be related to increased CDAI when the patient has the AA genotype. Disease Activity Score 28 (DAS 28) (p = 0.096) and Health Assessment Questionnaire (HAQ) values (p = 0.823) were not significant in relation to AA, CC and CA genotypes, showing no association of polymorphism with these activity indices, suggesting that this polymorphism is not associated with the patient's disability. The rheumatoid factor (RF) analysis showed no statistically significant results (p = 0.879) and also the erosion analysis results showed no statistical significance (p = 0.529), suggesting that IL-18 polymorphism (-607 C / A (RS1946518)) is not associated with erosion and rheumatoid factor. Thus, we can say that IL-18 (-607 C / A (RS1946518)) may be associated with disease activity when related to increased CDAI in patients with AA genotype. However, further studies are needed to better understand the association of polymorphism of other IL-18 gene regions in the development of RA.Item Análise in silico de Polimorfismo de Nucleotídeo Único (SNP) de variantes missense do gene IL17A(2022-10-06) Silva, João Gabriel da; Maia, Maria de Mascena Diniz; http://lattes.cnpq.br/7051998554981575Item Estudo do polimorfismo +874 T/A do gene interferon gamma em pacientes com artrite reumatoide do estado de Pernambuco(2018) Barboza, Daniella Alves Silva Pimentel; Maia, Maria de Mascena Diniz; Silva, Isaura Isabelle Fonseca Gomes da; http://lattes.cnpq.br/9915138553762710; http://lattes.cnpq.br/7051998554981575Rheumatoid arthritis (RA) is an autoimmune disease with prevalence between 0.5% and 1% of the adult population worldwide. The etiology is still not fully understood, but it is known that hormonal, environmental and immunological factors act together in individuals with genetic predisposition. Among the genetic factors, Interferon Gamma (IFNG) +874 T/A gene polymorphism is cited as acting in several autoimmune diseases. In this sense, the objective of this work is to analyze the relation of the +874 T / A polymorphism of the IFNG gene in RA, in a population of the State of Pernambuco. The present study was composed of 127 patients and 127 healthy controls, from which the blood samples collected were used for DNA extraction. Subsequently, amplification of the extracted DNA was performed, using the allelespecific polymerase chain reaction (AS-PCR). The amplified material was subjected to 2% agarose gel electrophoresis. Statistical calculations were applied using Chi-square and Analysis of Variance. The results indicated that the + 874 T / A polymorphism of the IFNG gene is not associated to the development of RA, with genotypic distribution (TA x AA: p = 0.530 and TT x AA: p = 0.416) and allelic frequency (p = 0.851). However, individuals with TT and TA genotypes had significantly higher rates of disease activity compared to the AA genotype (DAS28: p = 0.017; CDAI: p = 0.021). Suggesting that the +874 T/A polymorphism of the IFNG gene can be considered as a marker for RA disease activity.Item Genética geral para universitários(EDUFRPE, 2015) Souza, Paulo Roberto Eleutério de; Silva, Hildson Dornelas Angelo da; Leite, Fernanda Cristina Bezerra; Maia, Maria de Mascena Diniz; Garcia, Ana Cristina Lauer; Montes, Martín AlejandroDesde ano de 2008, vimos programando editar um livro de genética geral, para ser usado pelos alunos dos cursos de Agronomia, Engenharia Florestal, Veterinária, Zootecnia, Biologia (Licenciatura e Bacharelado) da UFRPE. A intenção foi descrever os temas do conteúdo da disciplina Genética Geral, em uma linguagem simples, lógica e sintética com o objetivo de facilitar o aluno na compreensão dos conceitos básicos de cada assunto abordado pertinente ao processo de aprendizagem da genética. Essa ideia nasceu da experiência como professores de genética sempre ouvindo dos alunos que essa disciplina é “muito difícil”, os “livros trazem uma linguagem complexa” os “assuntos envolvem matemática” os “capítulos são longos” entre outras dificuldades. Assim, em 2011, resolvemos elaborar um livro para ser publicado pela Editora da Universidade Federal Rural de Pernambuco. Desejamos, portanto, que os nossos alunos em contato com os assuntos que escrevemos sejam estimulados a aprender genética de uma forma pessoal relacionando os conteúdos a algo que eles já conhecem e se deparam no dia-a-dia associando os fatos do passado com o presente de modo a tornar os temas mais interessantes no que se refere à beleza sobre o panorama da vida.Item Predição por análise in silico da consequência de mutação missense no gene IGF2 humano(2023-09-04) Costa, Karla Roberta Lemos Maul de Souza; Maia, Maria de Mascena Diniz; http://lattes.cnpq.br/7051998554981575; http://lattes.cnpq.br/8727605240852776