25 resultados para mutação


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Plants are organisms sessile and because of this they are susceptible to genotoxic effects due to environmental exposure such as light [including ultraviolet (UV)], heat, drought and chemicals agents. Therefore, there are differents pathways in order to detect a lesion and correct. These pathways are not well known in plants. The MutM/Fpg protein is a DNA glycosylase that is responsible for detect and correct oxidative lesions. In the sugarcane genome, it was found two possible cDNAs that had homology to this protein: scMUTM1 and scMUTM2. The aim of this work was to characterize the role of these cDNAs in plants. In order to do this, the expression level after oxidative stress was evaluated by semiquantitative RT-PCR. Another point analyzed in order to obtain the full-length gene, it was to use a sugarcane genomic library that was hybridized with both cDNAs as a probe. It was found two clones that will bought and sequenced. The promoter region was also cloned. It was obtained sequences only for scMUTM2 promoter region. The sequences obtained were divided into six groups. It was found regulatory motifs such as TATA-box, CAAT-box, oxidative stress element response and regulatory regions that response to light. The other point analyzed was to characterize the N-terminal region by PCR constructs. These constructs have deletions at 5 region. These sequences were introduce into Escherichia coli wild type strain (CC104) and double mutant (CC104mutMmutY). The results showed that proteins with deletions of scMUTM1 N-terminal region were able to complement the Fpg and MutY-glycosylase deficiency in CC104 mutMmutY reducing the spontaneous mutation frequency

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Conselho Nacional de Desenvolvimento Científico e Tecnológico

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Analyses the presence of new standards of habitation detected in the construction of the region called Cidade Nova, in the first s years of the XX century. Associates the presence of these new patterns with the historical moment lived by the capital, marked by the urban modernization and by the changes of local life. Map voices that, introduced by the republican groups since 1889, pronounced the overcome of the old city of the XIX century asseverated a new model of town. Make use, as fundamental fonts of research, of the urban chronicles produced by the local intellectuals and the newspapers, like A República. Dialog with chronics that includes since propositions about the colonial past until the preoccupations about the acting of the State on how to order the public space. Identifies on those texts the political motivations and the elements whose where inherent to capitalism that accelerated the changes occurred in the urban space. Demonstrates the gradual occupation of Cidade Nova as an important modification happened in the city from that time on. That neighborhood adopted a new model on how to construct the houses of their citizens and helped to promote the urban life as a whole. From now on, Natal has a space meant for the home of their richest families. Recognizes, from many ways, many discourses, manners of living that was legitimized by the changing of the XIX to the XX century and has his highest point in the 1920´s. And it was representative of the strong attachment about the habits of refinery and order in the essence of the private life of the local urban elites

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Pleomorphic adenoma and adenoid cystic carcinoma represent a benign and malignant salivary gland neoplasm, respectively, that shares the same histological origin, however with distinct biological behavior. The aim of the present study was identify the -160 C/A polymorphism in the gene CDH1, mutational analysis of CTNNB1 gene and evaluation the expression of the E-cadherin and β-catenin in pleomorphic adenomas and adenoid cystic carcinomas. Furthermore, it was proposed correlate the immunochemistry staining patterns with the polymorphism and mutations. Twenty-four pleomorphic adenomas and 24 adenoid cystic carcinomas were retrieved. The polymorphism analysis was performed by restriction fragment length polymorphism (RFLP), using the restriction enzymes HphI or AflIII and the mutational screening was performed by PCR-single strand conformational polymorphism (PCR-SSCP). The immunohistochemical analysis was taken by the counting of cells, recorded as the Hscore index, and considering the presence or absence, intensity, distribution and localization of proteins expression. Comparing the two neoplasms, the results demonstrated statistically significant difference for the E-cadherin and β-catenin expression, with pleomorphic adenoma presenting weaker immunostaining. Was observed statistical correlation between E-cadherin and β-catenin expression. CDH1 heterozigotic polymorphism was seen in two cases and 13 cases displayed abnormal mobility electrophoretic shifts, suggesting CTNNB1 gene mutation. The immunohistochemical expression was not statistically correlated with the polymorphism or suggested mutations. In conclusion this study supports that the E-cadherin/β-catenin complex immunohistochemical expression might be related with the myoepithelial component amount and differentiation neither the tumor biological behavior. The cases that showed E-cadherin gene polymorphism presented reduced protein expression and, moreover, CTNNB1 suggested mutations seem not influence in the β-catenin protein expression

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This work presents a algorithmic study of Multicast Packing Problem considering a multiobjective approach. The first step realized was an extensive review about the problem. This review serverd as a reference point for the definition of the multiobjective mathematical model. Then, the instances used in the experimentation process were defined, this instances were created based on the main caracteristics from literature. Since both mathematical model and the instances were definined, then several algoritms were created. The algorithms were based on the classical approaches to multiobjective optimization: NSGA2 (3 versions), SPEA2 (3 versions). In addition, the GRASP procedures were adapted to work with multiples objectives, two vesions were created. These algorithms were composed by three recombination operators(C1, C2 e C3), two operator for build solution, a mutation operator and a local search procedure. Finally, a long experimentation process was performed. This process has three stages: the first consisted of adjusting the parameters; the second was perfomed to indentify the best version for each algorithm. After, the best versions for each algorithm were compared in order to identify the best algorithm among all. The algorithms were evaluated based on quality indicators and Hypervolume Multiplicative Epsilon

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Background & Aims: HFE-associated Hereditary Hemochromatosis (HH) is one of the most frequent autosomal recessive disease in the caucasian population, caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders and skin darkening. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. The objective is to avaluate the distribution of C282Y, H63D and S65C mutations in the HFE gene in patients with suspected HH in the state of Rio Grande do Norte, Brazil. Methods: Samples of peripheral blood were taken from 335 patients originating from Natal-RN, a city in northeastern Brazil with suspected of HH and which were screened for the HFE gene C282Y, H63D and S65C mutations, using molecular genetics assays (Polymerase Chain Reaction- Restriction Fragments Length Polymorphism). The main criterion for including such patients in the study was the increasing of persistent serum ferritin in individuals aged between 18 and 70 or older, both males and females. As to the exclusion criteria, individuals holding hemolytical anemia, talassemy and previously report of blood transfusion did not take part of the study. Results: Out of the 335 patients studied, 143 patients showed absence of mutation and 195 showed some kind of mutation in the HFE gene: 07/335 (2,08%) were homozigous C282Y, 25/335 heterozygous C282Y, 25/335 (7,46%) were homozigous H63D, 115/335 (34,32%) heterozygous H63D, 5/335 (1,48%) heterozygous S65D, 11/ 335 (3,28%) and were double heterozygous (H63D/C282Y). None patients were Homozygous S65D and S65D heterozygous (S65D/H63D and S65D/C282Y). Conclusions. The distribution of the HFE gene C282Y, H63D and S65C mutations found in our group matches the tendencies observed in other European countries. Due to the high prevalence of hemochromatosis, its seriousness and easy treatment, the genetic diagnosis of HH has become a dream, especially in the high risk group.

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In an environment of constant change, technological developments, market competition and more informed consumers, the search for a lasting relationship through the conquest of loyalty has become the objective of companies. However, several authors suggest that this loyalty can be affected by negative comments available on the internet. Therefore, this dissertation has as objective to examine if the complaints are available on the internet impact the loyalty to a brand of mobile phone. The research used as the basis the Expanded NCSB model suggest by Johnson et al. (2001), studying five prominent drives of loyalty: image/brand reputation, affective commitment, calculative commitment, perceived value and trust, beyond the satisfaction construct as moderator variable. The research method adopted was the experimental design which included 285 undergraduate students, with the trial which included 285 undergraduate students, with the field study of the mobile industry, specifically, the brands of cell phones. The research approach was quantitative and methods were descriptive statistics, factor analysis, cluster analysis, linear regression and non-parametric test of Wilcoxon for data analysis. Of the 16 hypothesis stemmed from the research model proposed, 12 were confirmed. The results showed that the complaint available on the internet, here represented by the available on the site Reclame Aqui, may impact consumer perceptions about brand loyalty, as well as its antecedents, being that these complaints can affect all the consumers, regardless of historical satisfaction with the brand. It also noted the positive relationship between the independent variables trust, image/brand reputation, perceived value, affective commitment and calculative commitment and the dependent variable - loyalty, even when considering the data obtained after exposure to the complaint. However, no unanimous conclusion that the relationship between these variables was strongest in the group with satisfactory experience. At the first moment of the research, the trust was the most important variable for the formation of loyalty. However, after exposure to treatment, the image/brand reputation, was more relevant. Contributions of the study, limitations and recommendations for future researches are approached in the present investigation

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found

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The sequencing of the genome of Chromobacterium violaceum identified one single circular chromosome of 4.8 Mb, in which approximately 40% of the founded ORFs are classified as hypothetical conserved or hypothetical. Some genic regions of biotechnological and biological interest had been characterized, e. g., environmental detoxification and DNA repair genes, respectively. Given this fact, the aim of this work was to identify genes of C. violaceum related to stress response, as the ones involved with mechanisms of DNA repair and/or genomic integrity maintenance. For this, a genomic library of C. violaceum was built in Escherichia coli strain DH10B (RecA-), in which clones were tested to UVC resistance, resulting in five candidates clones. In the PLH6A clone were identified four ORFs (CV_3721 to 3724). Two ORFs, CV_3722 and CV_3724, were subcloned and a synergic complementation activity was observed. The occurrence of an operon was confirmed using cDNA from C. violaceum in a RT-PCR assay. Further, it was observed the induction of the operon after the treatment with UVC. Thus, this operon was related to the stress response in C. violaceum. The mutagenesis assay with rifampicin after the treatment with UVC light showed high frequency of mutagenicity for the ORF CV_3722 (Pol III δ subunit). In this way, we propose that the C. violaceum δ subunit can act in DH10B in the translesion synthesis using Pol IV in a RecA independent-manner pathway. In growth curve assays other four clones (PLE1G, PLE7B, PLE10B and PLE12H) were able to complement the function at the dose 5 J/m2 and in mutagenicity assays PLE7B, PLE10B and PLE12H showed frequencies of mutation with significant differences upon the control (DH10B), demonstrating that in some way they are involved with the stress response in C. violaceum. These clones appear to be interrelated, probably regulated by a messenger molecule (eg., nucleotide c-di-GMP) and/or global regulatory molecule (eg., σS subunit of RNA polymerase).The results obtained contribute for a better genetic knowledge of this specie and its response mechanisms to environmental stress.