Programa de Pós-Graduação em Genética e Biologia Molecular - PPGBM/ICB

URI Permanente desta comunidadehttps://repositorio.ufpa.br/handle/2011/8839

O Programa de Pós-Graduação em Genética e Biologia Molecular (PPGBM) do Instituto de Ciências Biológicas (ICB) da Universidade Federal do Pará (UFPA). Tem como objetivo geral promover a formação de profissionais da área de Ciências Biológicas, informática e áreas afins, preparando-os como docentes, pesquisadores e profissionais técnicos especializados, buscando a melhoria da qualidade do ensino e o progresso do conhecimento, com aplicações diretas ou indiretas ao desenvolvimento nacional e à melhoria de condições de vida, particularmente dos habitantes da região amazônica, assim como a conservação da biodiversidade, ecossistemas e recursos naturais.

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Farmacogenômica das fluoropirimidinas no tratamento oncológico personalizado
(Universidade Federal do Pará, 2016-12-29) FERNANDES, Marianne Rodrigues; BURBANO, Rommel Mario Rodriguéz; http://lattes.cnpq.br/4362051219348099
Recently, cancer has become an obvious public health problem worldwide. The Fluoropyrimidine-based regimen has been the most widely used chemotherapy regimen worldwide in several types of solid tumors, including gastric and colorectal cancer. Of the total number of patients treated with 5-Fluorouracil (5-FU), 10-40% have severe toxicities, which usually result in prolonged and costly hospitalizations. The principle of personalized medicine is to study responses to medications based on individual genomic information. The high degree of miscegenation is a challenge for the worldwide implementation of personalized medicine in clinical practice. Many studies in the specialized literature have reported the influence of pharmacogenomic markers in mixed populations such as the Brazilian population. The aim of this study was to investigate the pharmacogenomic variability of different biomarkers in pharmacogenes involved in the metabolism pathway of Fluoropyrimidines in patients with gastric cancer or colorectal cancer, which are sub-strutured according to response and toxicity to treatment. To perform the research we used 216 patients with colorectal or gastric cancer who received 5-FU chemotherapy treatment. We investigated 33 genetic polymorphisms in 17 pharmacogens (ABCB1, ABCC2, ABCC4, ABCG2, CYP2A6, DPYD, FPSG, ITGB5, MTHFR, SLC22A7, SLC29A1, TP53, TYMS, UMPS, GGH, RRM1, TYMP) involved in the metabolism pathway of fluoropyrimidines. Our results showed that 77.3% of the patients presented some type of toxicity related to 5-FU treatment, of which 22% presented severe toxicities classified in grade 3 and 4. Death occurred in 23 patients, where three cases were related to toxicity and four cases with tumor progression and chemotherapeutic toxicity. Population substructuration was not influential in the association results for pharmacogenetic polymorphisms with the use of 5-FU. The FPGS gene (rs4451422) was shown to be significant in association with overall toxicity (p = 0.0052; OR 0.32) and toxicity events (p = 0.0004; OR 0.22). The ABCC4 gene (rs148551) had a significant association with the clinical response (p = 0.0056; OR 0.28). The SLC29A1 gene (rs760370) was shown to be significant for grade 3 and 4 toxicities (p = 0.0033; OR 4.73). In conclusion, due to the high degree of miscegenation in the Brazilian population, and particularly in the North of Brazil, the generated 5-FU pharmacogenomics data are particularly unique when compared to the homogenous populations investigated to date. The ABCC4, FPGS and SLC29A1 genes have been shown to be important biomarkers predictive of personalized medicine therapy using 5-FU.
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Integração dos estudos cromossômicos e DNA barcoding em Rhamphichthys (Pisces: Gymnotiformes)
(Universidade Federal do Pará, 2016-05-16) SILVA, Patrícia Corrêa da; PIECZARKA, Julio Cesar; http://lattes.cnpq.br/6644368250823351
The Order Gymnotiformes is composed by 219 valid species, which are distributed in five families. The most investigated genera are Eigenmannia and Gymnotus. Our work focused on family Rhamphichthyidae, genus Rhamphichthys that, like other Gymnotiformes, present greater abundance and diversity in the Amazon region. Sampling was carried out in the municipalities of Abaetetuba, Barcarena and Belém (Pará) and Tefé, Ecological Reserve Mamirauá (Amazonas), in order to better define the species, through the integration of classical cytogenetic data, cytogenomic analysis (probes for repetitive DNA sequences) and DNA Barcoding and thus understand the evolution of this fish in the Amazon. A new karyotype was identified for R. rostratus with the presence of B chromosomes and karyotype formula FC = 48m / sm + 2st / a + (5-10) B, as well as a new cytotype from the Amazon region, in Rhamphichthys sp. FC = 44m / sm + 6st / a, and also in R. marmoratus, FC = 46 + 4st / a in the state of Pará. The analysis of repetitive sequences in the new cytotypes demonstrated that probes 18S coincided with the regions of constriction secondary that are marked with silver nitrate in the classical NOR staining technique. The DNA probes 5S mark multiple sites, letting clear that the evolution of the ribosomal gene family is independent, at least in the genus Rhamphichthys. Retroelements REX1 and REX3 marked in a dispersed fashion throughout the genome, as already described in literature for other fishes. The REX1 element also marks the secondary constriction in R. rostratus, which has also been described in other species of fishes that inhabit polluted environments, exposed to environmental stresses and also in hybrid individuals. The barcoding DNA analysis allowed the construction of a Bayesian tree, which is in agreement with the cytogenetic data. Thus, populations of R. rostratus with and without B chromosomes are separate taxa. In turn, the sample from Mamirauá, herein called Rhamphichthys sp., since it was not been formally described, it is more similar in both karyotypic data as the barcoding analysis with R. hanni from southeastern Brazil. Our data let clear that the number of species in Rhamphichthys is underestimated, which reinforces the need for a taxonomic revision of the genus.

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