189 research outputs found
Mapa genético argentino
Fil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaLos resultados de la investigación presentada por el autor, basada en datos moleculares de los argentinos, demuestran heterogeneidad en cuanto a las contribuciones genéticas de los grupos de diverso origen continental que participaron en la génesis de nuestra población. El análisis de un número adecuado de muestras de individuos varones no relacionados -analizados mediante diferentes marcadores genéticos capaces de determinar componentes ancestrales, tanto de linaje (línea materna y paterna) como individuales-, permitió reinterpretar conceptos, como el del origen estrictamente europeo de los argentinos
La matriz originaria : realidad poblacional y consecuencias : mapeo genético de la población
Fil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina.El Servicio de Huellas Digitales Genéticas de la Facultad de Farmacia y Bioquímica de la UBA ha contribuido con la Suprema Corte de Justicia de la Nación en la investigación de la identidad mediante técnicas de análisis de ADN, en más de 10.000 casos judiciales, civiles y penales. Este análisis ofrece también una herramienta para investigar las características de la población a partir de la cual emergen las muestras, y aporta los datos que permiten el análisis de la población como un todo. Los resultados de estas investigaciones permiten responder a algunas preguntas que se vinculan con la percepción generalizada de la población: ¿por qué se sostuvo el mito de que ?los argentinos descendemos de los barcos?, y ¿por qué hemos negado por más de 100 años que nuestra población es heterogénea desde el punto de vista étnico
Male Reproductive Strategies in Black and Gold Howler Monkeys (Alouatta caraya)
Behavioral and demographic factors such as group size, social structure, dispersal patterns, and mating systems affect male reproductive success. In the present study, we analyze the relationship between social structure, genetic relatedness of adult males and offspring paternity in one population of Alouatta caraya inhabiting a continuous forest in Northern Argentina. After 14 months of behavioral studies and genotyping 11 microsatellites, we found that dominant or central males achieved greater mating success and fathered all the offspring conceived during our study in two multimale?multifemale groups (both including three adult males). Although skewed toward the dominant males, females copulated with almost all resident males and with extra group males. We found significantly fewer agonistic interactions between adult males in the group with fewer females and where males were more genetically related to each other (average relatedness R-0.237; 0.015 int/ind/hr vs. r-0.02; 0.029 int/ ind/hr). Paternity was also analyzed in two other neighboring groups which also showed strong skew to one male over a 2 year period. These results reveal that even though female black and gold howlers mate with many males, infants are typically fathered by one dominant male. Am. J. Primatol. 76:43-55, 2014.Fil: Oklander, Luciana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Universidad Nacional de Misiones. Instituto de Biología Subtropical; ArgentinaFil: Kowalewski, Miguel Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Museo Argentino de Ciencias Naturales ; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin
High-throughput screening for spermatogenesis candidate genes in the AZFc region of the Y chromosome by multiplex real time PCR followed by high resolution melting analysis
Microdeletions in the AZF region of the Y chromosome are among the most frequent genetic causes of male infertility, although the specific role of the genes located in this region is not fully understood. AZFa and AZFb deletions impair spermatogenesis since no spermatozoa are found in the testis. Deletions of the AZFc region, despite being the most frequent in azoospermic patients, do not correlate with spermatogenic failure. Therefore, the aim of this work was to develop a screening method to ascertain the presence of the main spermatogenesis candidate genes located in the AZFc region in the light of the identification of those responsible for spermatogenic failure. DAZ, CDY, BPY2, PRY, GOLGA2LY and CSGP4LY genes were selected on the basis of their location in the AZFc region, testis-only expression, and confirmed or predicted protein codification. AMEL and SRY were used as amplification controls. The identification of Real Time PCR products was performed by High Resolution Melting analysis with SYTO 9 as intercalating dye. The herein described method allows a rapid, simple, low-cost, high-throughput screening for deletions of the main AZFc genes in patients with spermatogenic failure. This provides a strategy that would accelerate the identification of spermatogenesis candidate genes in larger populations of patients with non-obstructive idiopathic azoospermia.Fil: Alechine, Evguenia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin
Ethnic displacement in Buenos Aires region: detection of genetic heterogeneity level in the current population using genetic markers
Actualmente en la provincia de Buenos Aires, con una población de más de 15 millones de habitantes, los pueblos aborígenes representan el 0,36%. Desde mediados de los ‘40, tanto los aborígenes y sus descendientes, como los inmigrantes europeos y latinoamericanos instalados en el interior del país fueron migrando tanto a la ciudad de Buenos Aires como a su conurbano, fenómeno fomentado por la actividad industrial y agrícola-ganadera. Con el objeto de evaluar el aporte de los distintos grupos étnicos a la composición genética de la población actual de la provincia de Buenos Aires (centrándonos en CABA y conurbarno), llevamos a cabo el análisis de marcadores genéticos de herencia uni y biparental (ADN mitocondrial: región de control y SNPs de región codificante, Cromosoma Y: SNPs y SNPs localizados en cromosomas autosómicos). Los resultados obtenidos permiten interpretar los procesos migratorios y de mestizaje que co-participaron en la constitución actual de la provincia, cuya población representa el 52% de la población total del país. De estos resultados surge un claro efecto de desplazamiento étnico ya que después de 20 generaciones del primer contacto no es posible detectar individuos que mantengan la estructura genética de las poblaciones originarias de América.In the province of Buenos Aires, with a population of over 15 million inhabitants, aboriginal people currently account for 0.36%. Since the mid-40s, aborigines and their descendants, as well as European and Latin American immigrants, settled in the major urban areas, such as Buenos Aires city and its suburbs, fueled by industrial, agricultural and livestock activities. In order to evaluate the contribution of the various ethnic groups to the genetic make-up of the extant population of Buenos Aires province, we analyzed uni- and biparental inheritance markers (mitochondrial DNA: control region and coding region SNPs, Y chromosome: SNPs and SNPs located on autosomal chromosomes). The results allow interpreting the processes of migration and mixing of cultures that co-participated in the present genetic constitution of the province that accounts for 52% of the total population of Argentina. Findings suggest a clear effect of ethnic displacement considering that at present, 20 generations after the first contact, it is not possible to detect individuals maintaining the genetic make-up of the pre-Hispanic populations of America.Fil: Bobillo, Maria Cecilia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin
Kinship and Dispersal Patterns in Alouatta caraya Inhabiting Continuous and Fragmented Habitats of Argentina
Black and gold howler monkeys (Alouatta caraya) still inhabit degraded and fragmented forests in southern South America. This fact raises questions regarding the real capacity of the howler’s long-term survival under such conditions. A detailed molecular study was carried out with the aim of evaluating how the continuous processes of habitat reduction and fragmentation affect the genetic structure of howler monkey populations. Two populations exposed to differences in forest continuity were compared using molecular markers: one inhabiting an undisturbed and continuous forest (CF) and the other a fragmented forest (FF). FF and CF showed differences in kinship relations and dispersal patterns. The groups in the FF were genetically differentiated; in contrast, there was no differentiation between groups in the CF. Moreover, both males and females disperse in the CF; accordingly, most groups were composed of adult individuals that were not closely related, whereas in the FF, males disperse more than females and groups were composed of closely related adult females. These results suggest that habitat fragmentation modifies the dispersal patterns of black and gold howler monkeys and might reflect a trend towards a reduction in their ability to disperse. This study underscores the use of molecular genetic data as a tool of utmost importance for conservation purposes to better understand social organization and behavioral patterns.Fil: Oklander, Luciana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; ArgentinaFil: Corach, Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentin
Extension problems and stable rank in commutative Banach algebras
AbstractWe find some estimations of the stable rank of a complex commutative Banach algebra and use them to compute the stable rank of the polydisc algebras
Systematic analysis of decadactylar subungueal genetic traces in murder cases
Foreign biological material under the fingernails of a murder victim and/or suspect can be valuable evidence in a criminal investigation. The aim of this study was to evaluate the prevalence of foreign DNA under each fingernail of victims of violent deaths, including fatal struggle or rape cases. Fingernail swabs or, alternatively clipping nails, were taken from all fingers of both right and left hands from 46 victims (13 females and 33 males) and treated separately. Semi-automated DNA extraction was performed and 21 markers were genotyped. We detected reliable profiles in all the studied samples (n = 460). The majority of results produced a single profile that matched the donor. Foreign DNA was detected in 15/46 victims, 61.5% positive detection in females vs 21.2% in males. A total of 38/390 DNA mixtures were detected in biological material under the fingernails being 19 from right hand (50%) and 19 from left hand (50%). The finger-like distribution was similar in right and left hands where the index, middle and ring fingers showed the 86.8% of the positive results; being these findings in line with the strength and shape of hand's fingers. The sample treatment optimization increased the possibilities of obtaining biological material from the perpetrator being a powerful tool in a murder investigation. Processing strategy including the penta-dactylar analysis of each hand for independent subungueal recovery of informative exogenous genetic material by fingernail clipping or swabbing and the use of optimized extraction and purification protocols might increase the rate of success in identifying criminal felons.Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Canonaco, Enzo. Corte Suprema de Justicia de la Nación. Cuerpo Médico Forense; ArgentinaFil: Corach, Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentin
Hepatitis C virus pharmacogenomics in Latin American populations: implications in the era of direct-acting antivirals
In recent years, great progress has been made in the field of new therapeutic options for hepatitis C virus (HCV) infection. The new direct-acting antiviral agents (DAAs) represent a great hope for millions of chronically infected individuals because their use may lead to excellent cure rates with fewer side effects. In Latin America, the high prevalence of HCV genotype 1 infection and the significant association of Native American ancestry with risk predictive single-nucleotide polymorphisms (SNPs) in IFNL4 and ITPA genes highlight the need to implement new treatment regimens in these populations. However, the universal accessibility to DAAs is still not a reality in the region as their high cost is one of the major, although not the only, limiting factors for their broad implementation. Therefore, under these circumstances, could the assessment of host genetic markers be a useful tool to prioritize DAA treatment until global access to these new drugs can be achieved? This review will summarize the scientific evidences and the potential implications of HCV pharmacogenomics in this rapidly evolving era of anti-HCV drug development.Fil: Trinks, Julieta. Hospital Italiano. Instituto de Ciencias Básicas y Medicina Experimental; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Hulaniuk, María L.. Hospital Italiano. Instituto de Ciencias Básicas y Medicina Experimental; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Flichman, Diego Martin. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin
Long-term room temperature preservation of corpse soft tissue: an approach for tissue sample storage
Background: Disaster victim identification (DVI) represents one of the most difficult challenges in forensic sciences, and subsequent DNA typing is essential. Collected samples for DNA-based human identification are usually stored at low temperature to halt the degradation processes of human remains. We have developed a simple and reliable procedure for soft tissue storage and preservation for DNA extraction. It ensures high quality DNA suitable for PCR- based DNA typing after at least 1 year of room temperature storage. Methods: Fragments of human psoas muscle were exposed to three different environmental conditions for diverse time periods at room temperature. Storage conditions included: (a) a preserving medium consisting of solid sodium chloride (salt), (b) no additional substances and (c) garden soil. DNA was extracted with proteinase K/SDS followed by organic solvent treatment and concentration by centrifugal filter devices. Quantification was carried out by real-time PCR using commercial kits. Short tandem repeat (STR) typing profiles were analysed with 'expert software'. Results: DNA quantities recovered from samples stored in salt were similar up to the complete storage time and underscored the effectiveness of the preservation method. It was possible to reliably and accurately type different genetic systems including autosomal STRs and mitochondrial and Y-chromosome haplogroups. Autosomal STR typing quality was evaluated by expert software, denoting high quality profiles from DNA samples obtained from corpse tissue stored in salt for up to 365 days. Conclusions: The procedure proposed herein is a cost efficient alternative for storage of human remains in challenging environmental areas, such as mass disaster locations, mass graves and exhumations. This technique should be considered as an additional method for sample storage when preservation of DNA integrity is required for PCR-based DNA typing.Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Bosio. Luis A.. Universidad de Buenos Aires. Facultad de Medicina. Cátedra de Medicina Legal y Deontología Médica. Servicio de Antropología Forense; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin
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