Diversidade alélica do gene DRB3 do complexo principal de histocompatibilidade nas raças de búfalo mediterrâneo, Jafarabadi e Murrah

Pós-graduação em Zootecnia - FCAV

Influência dos genótipos / haplótipos das posições polimórficas -786T > C, 894G > T e Íntron 4b / a do gene NOS3 sobre o sistema cardiovascular e a atividade das enzimas antioxidantes em adultos submetidos ao treinamento físico aeróbio

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Coexistencia de variantes HIV-1 com insercao dipeptidica no gene da transcriptase reversa

O objetivo desta comunicação foi descrever a detecção de coexistência de variantes HIV-1 com inserções de dois aminoácidos entre os códons 69 e 70 da transcriptase reversa. Tais variantes foram isoladas de paciente do sexo masculino, 16 anos de idade, em tratamento no interior do estado de São Paulo. Após confirmação de falha terapêutica, foi realizado teste de resistência a antirretrovirais, a partir do qual foram detectadas duas variantes contendo inserções dos aminoácidos Ser-Gly/Ser-Ala no códon 69 da transcriptase reversa, além da mutação T69S. Tais inserções possuem baixa prevalência, não foram relatadas em caráter de coexistência no Brasil e estão relacionadas com a resistência a múltiplas drogas, tornando o achado relevante do ponto de vista epidemiológico.

Polimorfismo XmnI e haplótipos do gene beta globina e suas relações com os níveis de hemoglobina Fetal em beta talassemia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo da associação de polimorfismos no gene MC1R com cor de pele e cor de cabelo para fins forenses

Melanin is a very important pigment to human species, and besides defining skin, eyes and hair color, it is also involved in sun exposure protection. This pigment is classified into two subtypes: pheomelanin, which is responsible for lighter pigmentation and eumelanin, the dark pigment related. Due to this type of melanin variation it is possible to found different phenotypes of hair and skin color. The genetics MC1R variations are described as the most important for diversity in pigmentation, and this gene is directly related to the complex process of melanin synthesis. The use of these variations to phenotype prediction using genetic information has been used in Europe countries to infer physical features from biological samples, with the purpose of directing searches of criminal suspects and victims identification. The aim of this study was to analyze 8 major MC1R polymorphisms in a sample of Brazilian individuals. Analyzing 91 individuals, we observed with higher frequencies the polymorphisms rs1805005:G>T, rs2228479:G>A and rs885479:G>A, which are related to skin and hair colors, as previously showed in literature. These data suggest the possibility of predicting phenotype from genetic polymorphisms in Brazilian population. However it will be necessary to analyze a larger number of individuals to be able to confirm these associations and to perform a more detailed statistical analysis

Caracterização molecular do gene que codifica a TCTP (Translationally Controlled Tumor Protein) em tomate (Solanum lycopersicum cv. Santa Clara)

The gene encoding TCTP (Translationally Controlled Tumour Protein) is present in all eukaryotes and its product is involved in various cellular processes. Although well characterized in mammals, there are only few works available in the literature related to the analysis of this protein in plants. In this present work, the expression of the gene encoding TCTP was analyzed in different organs/tissues of tomato plants (Solanum lycopersicum cv. Santa Clara). A quantification performed by RT-qPCR revealed the presence of TCTP transcript in all tissues/organs analyzed, with the highest expression level found in leaves. With the exception of fruits in intermediate stage of maturation, for which a small increase on the expression was detected, there was minimal variation in the relative expression of TCTP in other organ/tissues. In parallel, the effects of the constitutive expression of TCTP were investigated using transgenic tobacco lines able to overexpress this protein at different levels (T1, T2 and T3). Seedlings of these lines, and of a non-transgenic control line, were grown in MS culture medium for 21 days. At the end of this period, the length of roots and leaves was taken and the seedlings were photographed. According to Tukey's test, the analysis of the mean root length revealed a significant difference between T1 and T3 lines when compared to the control, although the same was not observed for the T2 line. For leaves, according to Kruskal-Wallis test, there was a statistical difference between the averages of leaf growth obtained for the different lines evaluated. According to these results, we can conclude that TCTP shows an ubiquitous expression in tomato plants, with the highest expression detected in leaves, and also that its overexpression promoted a higher root and leaf development in two of three transgenic tobacco lines tested

Polimorfismo do gene IL6 candidato à predisposição à rotura prematura de membranas pré-termo e ao trabalho de parto pré-termo

Introduction: Preterm Labor (PTL) and Preterm Premature Rupture of Membranes (PPROM) cause severe complications for both mother and fetus. Among the risk factors associated with preterm labor and PPROM, genetic predisposition has been gaining importance. However, the association between polymorphic genes and the pathogenesis of PTL and PPROM remains elusive. A better understanding of the genetic mechanisms underlying these adverse pregnancy outcomes may enable the identification of high risk patients and allow new approaches to minimize the deleterious effects of prematurity. Aim: To determine the association between maternal IL-6 polymorphism gene and the occurrence of PTL and PPROM. Patients and Methods: The study included 109 patients with prior history of PL and/or PPROM that delivered prematurely at the Obstetrical Unit Care of Botucatu Medical School, UNESP between 2003 and 2012. The control group consisted of 68 patients that delivered at term, matched to the case group by age, ethnicity, and sex of the newborn. Oral swabs (Cath-AllTM – Epicentre Biotechnologies) were collected for analysis of genetic polymorphisms by PCR. Statistical tests were performed to compare genotype, clinical and socio-demographic data from the groups. A p-value of <0.05 was considered significant. Results: The sociodemographic characteristics in both groups were homogeneously distributed. The frequency of the polymorphic allele C, associated with less production of IL-6, and therefore thought to be protective against PTL and PPROM, was 32,5% in the study group and 30,9% in the control group, without statistically significant differences. Conclusion: Considering the sample size included in this study, the frequency of the mutated allele is similar in pregnant women who delivered at term and gestational complications as PTL and PPROM

Clonagem e caracterização do promotor de um gene com expressão em folha de Eucalipto (Eucalyptus grandis)

Uma das principais estratégias de ação da biotecnologia na área vegetal trata da produção de plantas geneticamente modificadas com transgenes de interesse. Entretanto, para garantir a correta expressão de tais transgenes em plantas de interesse agronômico e florestal, como é o caso do eucalipto, a identificação e caracterização de seqüências promotoras com padrões conhecidos de expressão gênica se fazem necessárias. Nesse contexto, o presente trabalho objetivou clonar e sequenciar a região promotora de um gene com expressão em folha de Eucalyptus grandis. Em seguida, um cassete de expressão contendo o gene repórter GUS sobre controle do referido promotor foi construído e introduzido em vetor binário. O referido cassete foi então inserido em agrobactéria visando a futura transformação de plantas modelo para a realização de estudos funcionais

Análise da frequencia do polimorfismo rs12979860 C/T no gene IL28B em pacientes acometidos por câncer gástrico

Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

Análise de Alterações Cromossômicas, Mutações no Éxon 1 e do Padrão de Metilação da Região Promotora do Gene FOXO3 em Síndrome Mielodisplásica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Influência dos polimorfismos Taql e Bsml do gene do receptor de vitamina D no surgimento de infecção, tempo de internação e mortalidade em pacientes queimados

Pós-graduação em Fisiopatologia em Clínica Médica - FMB

Associação entre os polimorfismos do gene BCMO1 (β-caroteno 15,15'-monooxigenase 1) e as concentrações séricas de β-caroteno e retinol em diferentes etnias brasileiras

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Obtenção e caracterização molecular e fisiológica de plantas de soja contendo o gene AtGolS2 sob déficit hídrico

Pós-graduação em Agronomia (Genética e Melhoramento de Plantas) - FCAV

Distribution of the CCR5delta32 allele (gene variant CCR5) in Rondonia, Western Amazonian region, Brazil

Since around 1723, on the occasion of its initial colonization by Europeans, Rondonia has received successive waves of immigrants. This has been further swelled by individuals from northeastern Brazil, who began entering at the beginning of the twentieth century. The ethnic composition varies across the state according to the various sites of settlement of each wave of immigrants. We analyzed the frequency of the CCR5 Delta 32 allele of the CCR5 chemokine receptor, which is considered a Caucasian marker, in five sample sets from the population. Four were collected in Porto Velho, the state capital and the site of several waves of migration. Of these, two, from the Hospital de Base were comprised of HB Mothers and HB Newborns presenting allele frequencies of 3.5% and 3.1%, respectively, a third from the peri-urban neighborhoods of Candelaria/Bate-Estaca (1.8%), whereas a fourth, from the Research Center on Tropical Medicine/CEPEM (0.6%), was composed of malaria patients under treament. The fifth sample (3.4%) came from the inland Quilombola village of Pedras Negras. Two homozygous individuals (CCR5 Delta 32/CCR5 Delta 32) were detected among the HB Mother samples. The frequency of this allele was heterogeneous and higher where the European inflow was more pronounced. The presence of the allele in Pedras Negras revealed European miscegenation in a community largely comprising Quilombolas.

Sistema nervoso enterico e scrapie sperimentale in ovini di razza sarda con diversa suscettibilità genetica nei confronti della malattia

Sebbene il sistema nervoso enterico (“enteric nervous system”, ENS) svolga un ruolo cruciale nella patogenesi della Scrapie ovina, non esistono tuttavia in letteratura dati sulle popolazioni cellulari progressivamente coinvolte nel corso dell’infezione, né sugli eventuali danni morfo-funzionali da esse subiti. Il presente studio è stato condotto sui plessi mienterici e sottomucosi dell’ileo di 46 pecore di razza Sarda, recanti diversi polimorfismi del gene Prnp (ARQ/ARQ, ARQ/AHQ, ARQ/ARR, ARR/ARR). I suddetti animali, infettati per os all’età di 8 mesi con un ceppo di Scrapie precedentemente caratterizzato nel topo, sono stati sacrificati mediante eutanasia a determinati intervalli di tempo post-infezione (p.i.). E’ stata quindi valutata, tramite immunoistochimica ed immunofluorescenza indiretta su sezioni tissutali e su preparati “wholemount”, l’immunoreattività (IR) nei confronti della PrPSc, del “marker” panneuronale Hu C/D, dell’ossido-nitrico sintetasi (nNOS), della calbindina (CALB) e della proteina fibrillare acida gliale (GFAP). In 8 pecore con genotipo ARQ/ARQ, clinicamente sane e sacrificate a 12-24 mesi p.i., nonché in 5 ovini clinicamente affetti (2 con genotipo ARQ/ARQ, 3 con genotipo ARQ/AHQ), questi ultimi sacrificati rispettivamente a 24, 36 e 40 mesi p.i., le indagini immunoistochimiche hanno consentito di dimostrare la presenza di PrPSc a livello sia dell’encefalo (obex), sia dell’ENS, in particolar modo nei plessi mienterici. In tali distretti il deposito della PrPSc risultava pienamente compatibile con un interessamento delle cellule enterogliali (“enteroglial cells”, EGCs), mentre occasionalmente si notava un contestuale coinvolgimento della componente neuronale ivi residente. In conclusione, i dati della presente indagine consentono di ipotizzare un verosimile coinvolgimento delle EGCs e dei neuroni residenti a livello dei plessi dell’ENS nella patogenesi della Scrapie sperimentale realizzata per os in ovini di razza Sarda.