01. Universidade Federal Rural de Pernambuco - UFRPE (Sede)
URI permanente desta comunidadehttps://arandu.ufrpe.br/handle/123456789/1
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Resultados da Pesquisa
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/8727605240852776Item 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 Frequência do polimorfismo de nucleotídeo único (SNP) rs12979860 no gene IFN-λ3 entre gestantes com complicações obstétricas infectadas pelos vírus Zika e chikungunya e repercussões neonatais(2021-12-09) Silva, Raldney Ricardo Costa da; Silva, Maria Almerice Lopes da; Braga, Maria Cynthia; http://lattes.cnpq.br/4359793845820339; http://lattes.cnpq.br/2673967607603352; http://lattes.cnpq.br/2342253724047012Zika (ZIKV) and chikungunya virus (CHIKV) infections during pregnancy have been related to adverse clinical outcomes in the mother or her fetus. Single Nucleotide Polymorphisms (SNPs), with locus in immune response genes, may be involved in the occurrence of these complications. Thus, this study aimed to describe the frequency of SNP rs12979860 (C/T) in IFN-λ3 gene among pregnant/parturient women with obstetric complications attributed or not to Zika and chikungunya fever and to evaluate neonatal repercussions. For this purpose, we compared the genotypic and allelic frequencies of rs12979860 between two women groups with obstetric complications: infected with ZIKV or CHIKV (n=122) and non-infected (n=212). Then, we related the presence of neonatal complication (n=167) and absence of neonatal complication (n=166) with the presence of maternal infection and the SNP. To identify the SNP, we performed genotyping analysis using DNA extracted from blood samples with Wizard Genomic DNA Purification kit (PROMEGA, USA). Assays were accomplished by qPCR using a TaqMan fluorescent probe system. Differences between groups were analyzed using Pearson's chi-square test (X2) at a significance level p<0.05. We employed genotypic, recessive and dominant models to test associations of genotypes. All SNPs were in Hardy-Weinberg equilibrium. In the infected pregnant women/parturients group, the frequencies of TT, CT, and CC genotypes were 18.9%, 40.1%, 41.0%, respectively. In the non-infected group, these values were 19.8%, 47.6%, 32.5%, respectively. No significant difference was observed for the association between genotypic and allelic frequencies and the acquisition of infection by ZIKV and CHIKV in pregnant women with obstetric complications. Our results point to an association between maternal CT/TT genotypes and the risk of neonatal complications (p= 0.010), although the presence of maternal arboviral infection was not associated with this outcome (p= 0.076). It is concluded, although the presence of SNP rs12979860 in pregnant women with obstetric complications was not related to the acquisition of infections by ZIKV and CHIKV and presence of infection in the mother was not related to the development of neonatal complications, the CT/TT profile maternal is a risk predictor for complications in neonates.Item Estudo de polimorfismos no gene receptor da vitamina D em pacientes com a doença de Alzheimer(2021-12-09) Nascimento, Higor Vinicius Alves do; Souza, Paulo Roberto Eleutério de; http://lattes.cnpq.br/1971832245117283; http://lattes.cnpq.br/2776608155510414Vitamin D (VD) is a neurosteroid whose function is related to cell regulation, ion homeostasis, growth regulation and protective effect against injuries. Its deficiency may be associated with neurological disorders such as Alzheimer's disease. The effect of VD is exercised by the interaction with VD receptor, the VDR. The presence of the VDR gene is considered highly expressive, especially in the encephalon, hypothalamus and nigra substance, indicating a significant participation in the functioning of the nervous system. The VDR gene is located on the chromosome 12q13.11 and presents 14 exons. Polymorphisms in this gene have been associated with changes in its function and may influence its effects. The polymorphisms FokI (rs2228570) and TaqI (rs731236) are located in exotic regions and the BsmI (rs1544410) is located in the intronic region. Thus, this study aimed to verify the prevalence of BsmI, TaqI and FokI polymorphisms in the VDR gene in individuals with Alzheimer's disease (AD) and healthy control individuals (CS), in a population of the state of Pernambuco. A total of 78 individuals were evaluated, 39 with Alzheimer’s disease and 39 healthy controls treated in the outpatient clinic of the Hospital das Clínicas of UFPE and the characterization of genotypes was performed using the PCR-RFLP technique. The frequencies of FokI genotypes were 48.9% CC, 46.1% CT, 5% TT for the AD group and 43.6% CC, 53.9% CT and 2.5% TT for the CS group. Regarding genotypes BsmI, 15.4% AA, 53.9 AG and 30.8% GG were observed for the group with AD and 10.3% GG, 56.4% AG and 33.3% AA for the CS group. In turn, the frequencies of the TaqI genotypes for the AD group were 51.3% CT and 48.7% CC while for the CS group they were 61.5% CT and 38.5% CC. No significant difference was found when statistical analyses were performed between the groups (AD x CS) [p >0.05 for each analysis performed]. Thus, we can conclude that none of these three polymorphisms in the VDR gene seems to be involved with the susceptibility to AD in the studied population. However, new studies, including a larger number of patients, may elucidate our observed results.Item 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.