Caracterização de isolados e reação de Capsicum spp. ao Cucumber mosaic virus (CMV)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Análise taxonômica de espécies simpátricas do gênero Rhinocricus por meio da morfometria, citogenética e marcadores moleculares

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Prevalência e fatores de risco para carreamento de Staphylococcus aureus resistente à meticilina em idosos institucionalizados na cidade de Bauru-SP

Pós-graduação em Doenças Tropicais - FMB

Distributions and phylogeographic data of rheophilic freshwater fishes provide evidences on the geographic extension of a central-brazilian amazonian palaeoplateau in the area of the present day Pantanal Wetland

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Polimorfismos dos genes ADA e CNTNAP2 em indivíduos com Transtornos do Espectro do Autismo

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Impact of Probing the Reproductive Tract During Early Pregnancy on Fertility of Beef Cows

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

Species limits, phylogeographic and hybridization patterns in Neotropical leaf frogs (Phyllomedusinae)

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

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)

Sistema nervoso central de Hypoptopomatinae e Neoplecostominae (Siluriformes: Loricariidae): implicações filogenéticas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Diversidade clínica, epidemiológica e Genética do Mycobacterium tuberculosis na região Noroeste paulista

Pós-graduação em Genética - IBILCE

Comparação entre métodos diagnósticos da tuberculose em bovinos abatidos em matadouros-frigoríficos do Estado de São Paulo

Pós-graduação em Medicina Veterinária - FCAV

Research of Klebsiella pneumoniae in dairy herds

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

Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis

This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, Northwestern Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing no clinical or hematological alterations, or in homozygosis, the rarest form of inheritance, a condition that is commonly not related to clinical symptomatology. Moreover, this variant can exist in association with other hemoglobinopathies, such as thalassemias; the most noticeable clinical alterations occur when hemoglobin D-Punjab is associated to hemoglobin S. The clinical manifestations of this association can be similar to homozygosis for hemoglobin S. Although hemoglobin D-Punjab is a common variant globally with clinical importance especially in cases of double heterozygosis, hemoglobin S/D-Punjab is still understudied. In Brazil, for example, hemoglobin D-Punjab is the third most common hemoglobin variant. Thus, this paper summarizes information about the origin, geographic distribution, characterization and occurrence of hemoglobin D-Punjab haplotypes to try to improve our knowledge of this variant. Moreover, a list of the main techniques used in its identification is provided emphasizing the importance of complementary molecular analysis for accurate diagnosis.

Pasteurelose em juvenis de cobias (Rachycentron canadum) criados em tanques-redes no litoral norte do estado de São Paulo - Brasil

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Polimosfismo genético da glicose-6-fosfato desidrogenase na população da região de Araraquara-SP

The most important role played by the enzyme Glucose- 6-Phosphate Dehydrogenase (G6PD) in erythrocyte metabolism is in generating energy and reducing power used to protect the cell against oxidative attack. G6PD deficiency is the erythroenzymopathy that most frequently causes hemolytic anemia, and more than 130 molecular variants have already been identified. The aim of this study was to analyze the genetic mutations in the G6PD-deficient adult males in the population of the region of Araraquara, São Paulo State. Out of 5087 male blood donors, 89 were deficient for G6PD, as confirmed by assaying the enzyme activity and electrophoresis on cellulose acetate. Thus, a frequency of 1.75% of G6PD-deficient patients was found, this value being similar to other investigations in São Paulo state. Molecular analysis was performed by amplification of genomic DNA with specific primers and digestion with restriction enzymes. In 96.6% of the patients, the G6PD A¯ variant was observed, with mutations at residues 376(A→G) and 202(G→A). Mean G6PD specific activity among the patients was 1.31 IU.g Hb-1.min-1 at 37ºC, that is 10.8% of the normal activity of the G6PD B enzyme. The variant forms G6PD A¯ 680(G→T) and 968(T→C) were not found. In 3.4% of the deficient individuals, the G6PD Mediterranean variant was found, with a mutation at 563(C→T). In these cases, mean enzymatic activity was 0.25 IU.g Hb-1.min-1 at 37ºC, or 2.1% of the enzymatic activity of G6PD B. The use of traditional techniques, allied to the identification of the different molecular variants, is important for the understanding of the structural and functional properties and hemolytic behavior of the red blood cells of the patient.