Análisis de polimorfismos ligados a enfermedad cardiovascular en población general de Buenos Aires / Analysis of the polymorphism linked to cardiovascular disease in a general population from Buenos Aires

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.

Análisis de STRs de cromosoma X: su utilidad en casos de filiación / Analysis of X-Chromosome markers: utility in paternity identification

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.

Nueva variante en el polimorfismo del intrón 4 de la enzima Oxido Nítrico Sintasa endotelial (eNOS) / A new variant of the polymorphism in the fourth intron from the endothelial nitric oxide synthase enzyme

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.

Bases de datos de STRs en Argentina: consideraciones para su utilización en casos forenses y de paternidad / STRs (Short Tandem Repeats) database in Argentina: considerations for its employement in forensic cases and paternity

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

Polimorfismo del ADN mitocondrial en una población indígena del noroeste argentino / Genetic plymorphism of mitochondrial DNA in a closed native population geographically located in northern Argentina

This study was undertaken to evaluate the genetic polymorphism of mitochondrial DNA in a closed native population geographically located in Northern Argentina

Diferncias en los loci DYS389I y DYS389II producidas por una mutación en el locus DYS389I. Cálculo de la probabilidad de paternidad en un caso forense de abuelismo / Differences of loci DYs389I and DYS389II produced by a mutation in locus DYS389I and a calculation of the probability of paternity in a forensic case of ancestry

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

El sistema de histocompatibilidad mayor y el fenómeno de la vulnerabilidad de la placa ateromatosa en los síndromes coronarios agudos no Q: potencial modulación de la respuesta inflamatoria en la angina inestable / The major histocompatibility system and atherosclerotic plaque vulnerability in the non Q wave acute syndromes: potential modulation of the inflammatory response

Recientemente se ha encontrado una vinculación estrecha entre el proceso inflamatorio y la presencia de inmunocomplejos circulantes correspondientes a Chlamydia pneumoniae en los pacientes con complicaciones isquémicas en la fase hospitalaria. Decidimos estudiar los antígenos HLA clase I y los alelos de los genes HLA DR B1-B3-B4-B5 relacionados con la generación y regulación de la respuesta inflamatoria e inmune,presentes en la células vinculadas con el proceso aterogénico. Se halló una frecuencia de aparición elevada con un coeficiente de correlación positivo de los HLA A 31 (coeficiente de correlación: 0,39, p= 0,01) y HLA DR B4 (coeficiente de correlación: 0,34, p= 0,02) en los pacientes con mala evolución intrahospitalaria. Estos resultados preliminares sugieren que el sistema HLA estaría implicado en la modulación de la respuesta inflamatoria de los síndromes coronarios agudos