Search results for "Genètica humana"
showing 8 items of 8 documents
Human norovirus hyper-mutation revealed by ultra-deep sequencing
2016
Human noroviruses (NoVs) are a major cause of gastroenteritis worldwide. It is thought that, similar to other RNA viruses, high mutation rates allow NoVs to evolve fast and to undergo rapid immune escape at the population level. However, the rate and spectrum of spontaneous mutations of human NoVs have not been quantified previously. Here, we analyzed the intra-patient diversity of the NoV capsid by carrying out RT-PCR and ultra-deep sequencing with 100,000-fold coverage of 16 stool samples from symptomatic patients. This revealed the presence of low-frequency sequences carrying large numbers of U-to-C or A-to-G base transitions, suggesting a role for hyper-mutation in NoV diversity. To mor…
Extracellular histones disarrange vasoactive mediators reléase through COX-NOS interaction in human endothelial cells
2017
Abstract Extracellular histones are mediators of inflammation, tissue injury and organ dysfunction. Interactions between circulating histones and vascular endothelial cells are key events in histone‐mediated pathologies. Our aim was to investigate the implication of extracellular histones in the production of the major vasoactive compounds released by human endothelial cells (HUVECs), prostanoids and nitric oxide (NO). HUVEC exposed to increasing concentrations of histones (0.001 to 100 μg/ml) for 4 hrs induced prostacyclin (PGI2) production in a dose‐dependent manner and decreased thromboxane A2 (TXA2) release at 100 μg/ml. Extracellular histones raised cyclooxygenase‐2 (COX‐2) and prostac…
A Genome-Wide Association Study of Attention Function in a Population-Based Sample of Children
2016
BACKGROUND: Attention function filters and selects behaviorally relevant information. This capacity is impaired in some psychiatric disorders and has been proposed as an endophenotype for Attention-Deficit/Hyperactivity Disorder; however, its genetic basis remains largely unknown. This study aimed to identify single nucleotide polymorphism (SNPs) associated with attention function. MATERIALS AND METHODS: The discovery sample included 1655 children (7-12 years) and the replication sample included 546 children (5-8 years). Five attention outcomes were assessed using the computerized Attentional Network Test (ANT): alerting, orienting, executive attention, Hit Reaction time (HRT) and the stand…
A propósito de la inalterabilidad e intangibilidad del patrimonio genético humano como bien digno de protección penal
2019
En el presente estudio se efectúa una reflexión sobre el delito de manipulación genética contemplado en el artículo 159 del Código penal, precepto cuya concreta regulación despierta numerosas objeciones, especialmente en atención al bien jurídico de carácter colectivo que protege, como es la identidad genética, cuestionándose si esta conducta en particular encontraría mejor acomodo en la legislación administrativa. This paper makes a reflection on the crime of genetic manipulation contemplated in Article 159 of the Criminal Code, a provision whose specific regulation raises many objections, especially in attention to the collective legal right that protects, such as genetic identity, questi…
La generalización de los test genéticos y su incidencia en los derechos fundamentales
2017
Los avances científicos en el ámbito de la Genética hacen cada vez más fiables, útiles y económicamente asequibles los test genéticos. Por ello, un creciente número de personas se someten a estos test, muchos de los cuales son ofrecidos por empresas a través de Internet. Las pruebas genéticas no se limitan ya al ámbito estrictamente clínico, de investigación o forense, sino que son empleadas en otros contextos privados, como el dietético, el farmacéutico o el familiar. En este contexto, el presente artículo analiza sistemáticamente cómo los test genéticos pueden afectar a los derechos fundamentales, presentando los principales debates jurídicos que dichas pruebas genéticas han suscitado en …
Using gene expression and systems biology to interrogate auditory hallucinations in schizophrenic patients
2015
Schizophrenia is a severe mental disorder affecting around 1% of the opulation. This disease presents a complex aetiology that has not been completely unveiled yet. Auditory hallucinations are a very significant and disruptive symptom of schizophrenia affecting between 60% and 80% of schizophrenic patients. In this paper we have used a network-based transcriptomic analysis aiming to identify differences in gene expression between schizophrenic patients with and without auditory hallucinations. Gene expression data from blood samples drained from 30 schizophrenia patients were generated using Affymetrix Human Gene 2.0 ST Genechips. Affymetrix Expression console was used for normalization and…
Polymorphisms in endothelin system genes, arsenic levels and obesity risk.
2015
Background/objectivesObesity has been linked to morbidity and mortality through increased risk for many chronic diseases. Endothelin (EDN) system has been related to endothelial function but it can be involved in lipid metabolism regulation: Receptor type A (EDNRA) activates lipolysis in adipocytes, the two endothelin receptors mediate arsenic-stimulated adipocyte dysfunction, and endothelin system can regulate adiposity by modulating adiponectin activity in different situations and, therefore, influence obesity development. The aim of the present study was to analyze if single nucleotide polymorphisms (SNPs) in the EDN system could be associated with human obesity.Subjects/methodsWe analyz…
Prognostic heterogeneity of adult B-cell precursor acute lymphoblastic leukaemia patients with t(1;19)(q23;p13)/TCF3-PBX1 treated with measurable res…
2021
Programa para el Tratamiento de Hemopatias Malignas (PETHEMA) Group (Spanish Society of Hematology, SEHH).