Résumé
Atherosclerotic cardiovascular disease (CVD) is a major health problem around the world. The development of CVD is a complex process, and evidence demonstrates that family history is associated with CVD. The most common forms of CVD are believed to be multifactorial and to result from many genes, each with a small effect working alone or in combination with modifier genes or environmental factors. A large number of candidate gene associatin studies have been conducted for myocardial infarction and atherosclerotic CVD. Variants of the ACE, AGT, AGTR1, APOA5, APOE, CYP11B2, eNOS, FII, FVL, MTHFR, PA11, and genes in general population of Buenos Aires have been examined in the present study; allele frequency, genotype frequency and Hardy Weinberg equilibrium were analyzed in all cases.
Sujets)
Humains , Indice de masse corporelle , Maladies cardiovasculaires/étiologie , Maladies cardiovasculaires/génétique , Marqueurs génétiques , Hypertension artérielle/anatomopathologie , Pénétrance , Polymorphisme génétique , Prévalence , Qualité de vieRésumé
Analysis of X-chromosome markers is being increasingly used in special paternity cases. Here, we present a complex case composed of mother, child and three sibs of the decaesed alleged father. Exlcusion of the alleged biological relationships between child and the alleged group could be confirmed by typing a set of 10 X-chromosome STRs (short tandem repeat) in addition to the 17 autosomal STRs routinely analyzed, proving that analyses of these X-chromosome STRs is a useful supplementary tool in special situations of disputed paternity.
Sujets)
Humains , ADN mitochondrial/génétique , Biostatistiques , Chromosome X/génétique , Paternité , Répétitions minisatellites/génétiqueRésumé
Nitric oxide (NO) derived from endothelial Nitric Oxide Synthase enzyme (eNOS) is an important mediator of the vascular function. Various polymorphisms have been described for the eNOS gene that has effects on its expression. One of the most studied markers in the eNOS gen is located in the fourth intron and is characterized by the presence of a variable number of tandemly repeated sequence of 27 base pairs. In this work we report the existence and the sequence of a new variant for these polymorphism and we hypothestize its potential role in the regulation of NO productition by eNOS.
Sujets)
Humains , Allèles , Maladie des artères coronaires/anatomopathologie , Marqueurs génétiques , Ischémie myocardique/physiopathologie , microARN/génétique , Nitric oxide synthase type III/génétique , Polymorphisme génétique , Séquences répétées en tandem/génétiqueRésumé
The employmento fo genetic markers to study paternity and criminalistics requires the development of a database with allelic frequencies that allows an statistic evaluation of the results obtained. With the objective to determine if in Argentina could be possible to use a general database for forensic detrminations, we analyze the results of the typing of 15 Short Tandem Repeats (STRs) markers, used at present by the international scientific community in studies related to paternity and criminalistic. The results obtained in this study are described and discussed
Sujets)
Mâle , Humains , Femelle , Fréquence d'allèle , Marqueurs génétiques , Paternité , Prélèvement d'échantillon sanguin/classificationRésumé
This study was undertaken to evaluate the genetic polymorphism of mitochondrial DNA in a closed native population geographically located in Northern Argentina
Sujets)
Humains , ADN simple brin , Région variable d'immunoglobuline , Polymorphisme génétique , FoieRésumé
Presentamos un caso de filiación en el que un varón reclama la paternidad de un hombre fallecido cuyos rstos han sido cremados. Los abuelos paternos alegados también han fallecido, sólo se dispone de los restos biológicos del abuelo paterno para realizar la comparación con el Titular, no existiendo otros familiares del Padre Alegado que puedan ser analizados