RESUMO
Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting alpha-1 and/or alpha-2 genes of the alpha-globin cluster (HBA1 and HBA2). In Brazil, the most prevalent alpha-chain Hb variant is Hb Hasharon. In this study, we present the first case of an Hb Val de Marne variant in the Americas, specifically in Brazil.
Assuntos
Hemoglobinas Anormais/genética , Adulto , Substituição de Aminoácidos , Brasil , Feminino , Genética Populacional , Genótipo , Hemoglobinas Anormais/metabolismo , Humanos , Mutação , Mutação PuntualRESUMO
In insects, ribosomal genes are usually detected in sex chromosomes, but have also or only been detected in autosomal chromosomes in some cases. Previous results from our research group indicated that in Bradysia hygida, nucleolus organizer regions were associated with heterochromatic regions of the autosomal C chromosome, using the silver impregnation technique. The present study confirmed this location of the ribosomal genes using fluorescence in situ hybridization analysis. This analysis also revealed the partial sequences of the 18S and 28S genes for this sciarid. The sequence alignment showed that the 18S gene has 98% identity to Corydalus armatus and 91% identity to Drosophila persimilis and Drosophila melanogaster. The partial sequence analysis of the 28S gene showed 95% identity with Bradysia amoena and 93% identity with Schwenckfeldina sp. These results confirmed the location of ribosomal genes of B. hygida in an autosomal chromosome, and the partial sequence analysis of the 18S and 28S genes demonstrated a high percentage of identity among several insect ribosomal genes.
Assuntos
Mapeamento Cromossômico , Dípteros/genética , Genes de Insetos , RNA Ribossômico 18S/genética , RNA Ribossômico 28S/genética , Animais , Sequência de Bases , Hibridização in Situ Fluorescente , Dados de Sequência Molecular , Cromossomos Politênicos , Alinhamento de Sequência , Análise de Sequência de DNARESUMO
INTRODUCTION: The oxidative process plays a fundamental role in the pathophysiology of sickle cell anemia (SCA), and population and environmental characteristics may influence redox balance. The aim of this study was to evaluate lipid peroxidation and antioxidant capacity in Brazilian Hb S carriers undergoing different therapies. METHODS: Blood samples from 270 individuals were analyzed (Hb SS, n = 68; Hb AS, n = 53, and Hb AA, n = 149). Hemoglobin genotypes were assessed through cytological, electrophoretic, chromatographic, and molecular methods. Plasma lipid peroxidation and antioxidant capacity were measured by spectrophotometric methods. RESULTS: Patients with SCA who used iron-chelating drugs combined with hydroxyurea, associated with regular transfusions, showed lower levels of TBARS (P ≤ 0.05), higher levels of TEAC (P ≤ 0.01), and lower TBARS/TEAC ratio (R = 255.8). The redox profile of Hb AS subjects was not statistically different (P > 0.05) from that of Hb AA subjects. CONCLUSION: The data suggest that oxidative stress is lower in the patients with SCA who received regular blood transfusions associated with the combined use of HU and iron chelators than the group received only HU. The redox system of the Hb AS carriers is compatible with the control group.
Assuntos
Alelos , Anemia Falciforme/genética , Anemia Falciforme/metabolismo , Antioxidantes/metabolismo , Hemoglobina Falciforme/genética , Peroxidação de Lipídeos , Adolescente , Adulto , Idoso , Anemia Falciforme/sangue , Anemia Falciforme/terapia , Antioxidantes/uso terapêutico , Transfusão de Sangue , Brasil , Criança , Índices de Eritrócitos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estresse Oxidativo , Adulto JovemRESUMO
Devido à tendência das plaquetas em aderirem nas superfícies estranhas, além da facilidade destas em aglutinarem e desintegrarem, contagem de plaquetas realizada por método manual apresenta certa dificuldade operacional, estando assim sujeita a resultados errôneos. Presente estudo teve como finalidade, verificar o efeito dos materiais mais comumente utilizados na colheita e diluição das amostras sangüíneas, sobre plaquetometria. Foram analisadas amostras de sangue de 18 indivíduos adultos, colhidas simultaneamente em recipientes de vidro e de plástico contendo EDTA 10%. Diluição destas amostras foram realizadas em tubos de plástico e vidro com oxalato de amônio 1% e a contagem realizada em câmara espelhada de Neubauer. Resultados apontadaram que, faixas plaquetárias obtidas de sangue submetido a diferentes tratamentos não apresentaram diferenças estatisticamente significativas, indicando por conseguinte que, tanto vidro quanto plástico podem ser utilizados sem restrições para realização deste exame.