RESUMO
beta-Thalassemia (thal), the most common genetic disorder in Egypt, is a major health problem with an estimated carrier rate of 9-10%. This study, aimed at describing the beta-globin gene mutations in the Suez Canal area, an important Egyptian region, to provide a foundation for a disease control program. We studied 44 beta-thalassemic patients (and their relatives) from 35 families living in this region. The commonest mutations were genetically diagnosed using naturally or amplified created restriction sites. Less frequent mutations were characterized by denaturing gradient gel electrophoresis (DGGE) and direct sequencing. Twelve different mutations were identified in 51 unrelated chromosomes. The three most frequent mutations were IVS-I-110 (G-->A), IVS-I-1 (G-->A) and IVS-I-6 (T-->C). The spectrum of rarer mutations was heterogeneous and differed from that reported in other areas of Egypt. We also identified the first homozygous case of a rare mutation, codon 24 (-G; +CAC), displaying a thalassemia major phenotype. Parental consanguinity was high (60.6%) with 35.7% of the compound heterozygous patients having consanguineous parents. These data provide insights for the distribution of beta-thal alleles in this region, and could be used as a basis for genetic counseling and prenatal diagnosis.
Assuntos
Análise Mutacional de DNA/métodos , Globinas/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Adolescente , Adulto , Sequência de Aminoácidos , Sequência de Bases , Criança , Pré-Escolar , Consanguinidade , Impressões Digitais de DNA , Egito , Feminino , Frequência do Gene , Aconselhamento Genético , Genética Populacional , Humanos , Masculino , Mutação , Mutação Puntual , Polimorfismo de Fragmento de Restrição , Diagnóstico Pré-NatalRESUMO
OBJECTIVES: Both heme oxygenase-1 (HO-1) and vascular endothelial growth factor (VEGF) have been shown to be involved in the progression of atherosclerosis. The relationship between HO-1 and VEGF gene expression and their proteins in endothelial cells from human atherosclerotic arterial specimens was investigated. DESIGN AND METHODS: The study included seventeen human arterial specimens with early and six specimens with advanced atherosclerotic lesions. Ten specimens were obtained from healthy young adults undergoing arterial reconstruction for trauma and were considered as non-atherosclerotic control. HO-1 and VEGF expressions as well as HO activity and VEGF protein content were measured in isolated endothelial cells (ECs). RESULTS: HO-1 expression and activity (5.3+/-2.1 nmol bilirubin/mg protein/h) were only present in ECs from advanced atherosclerotic lesions. VEGF expression was more strongly expressed in ECs from advanced lesion compared with early lesions and was absent in healthy arteries. VEGF protein (1.35+/-0.69 ng/mg) was only detected in advanced lesions. A significant positive correlation (r=0.9, p<0.01) exists between HO activity and VEGF protein content in ECs of advanced lesions. CONCLUSIONS: This study demonstrated that HO-1 expression and activity in ECs are present only in advanced atherosclerosis whereas, VEGF expression is present in early as well as in advanced atherosclerosis and the degree of its expression increases with severity of atherosclerosis. This study suggests an association between HO activity and VEGF protein in human ECs from advanced atherosclerotic lesions.
Assuntos
Aterosclerose/genética , Aterosclerose/metabolismo , Heme Oxigenase-1/genética , Fator A de Crescimento do Endotélio Vascular/genética , Adulto , Idoso , Aterosclerose/patologia , Sequência de Bases , Estudos de Casos e Controles , Primers do DNA/genética , Células Endoteliais/metabolismo , Feminino , Expressão Gênica , Heme Oxigenase-1/metabolismo , Humanos , Técnicas In Vitro , Masculino , Pessoa de Meia-Idade , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fator A de Crescimento do Endotélio Vascular/metabolismoRESUMO
We screened blood donors in one center in Saudi Arabia for a safety transfusion. We found that among 5043 blood donors negative for HCV and HIV, the incidence of HBsAg positivity was 2.97%. When antiHBc antibody was measured (HBcIg) in HBsAg negative donors, we observed that 21.47% were positive indicating previous exposure to hepatitis B virus. The HBcIg positive blood was further screened for HBsAb and the specimens were found to be reactive in 81.54%. Based on these data blood transfusion was permissible from donors who showed HBsAg negativity, HBcIg positive and HBsAb reactive blood. In order to ensure safety transfusion an aliquot of specimens (n = 80) was further analyzed for HBV DNA by PCR. We found only one specimen positive with incidence of 1.25%. So we recommended restricting transfusion from the previously mentioned donors to emergencies.
