Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina

The main objective of this thesis was to increase knowledge about the ABO system in Argentina, using molecular techniques. We investigated the distribution of polymorphisms in seven cosmopolitan populations (Metropolitan Area of Buenos Aires, Mar del Plata, Bahía Blanca, Salta, Comodoro Rivadavia, P...

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Autor principal:	Vaccaro, María Silvina
Otros Autores:	Dejean, Cristina Beatriz
Formato:	Tesis de maestría acceptedVersion
Lenguaje:	Español
Publicado:	Facultad de Farmacia y Biquímica 2018
Materias:	Sistema ABO Polimorfismos Mezcla genica ADN Argentina ABO system Cosmopolitan populations Polymorphisms Gene admixture Ciencias de la vida
Acceso en línea:	http://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=afamaster&cl=CL1&d=HWA_2208 http://repositoriouba.sisbi.uba.ar/gsdl/collect/afamaster/index/assoc/HWA_2208.dir/2208.PDF
Aporte de:	Repositorio Digital de la Universidad de Buenos Aires (UBA) de Universidad de Buenos Aires

id	I28-R145-HWA_2208
record_format	dspace
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-145
collection	Repositorio Digital de la Universidad de Buenos Aires (UBA)
language	Español
orig_language_str_mv	spa
topic	Sistema ABO Polimorfismos Mezcla genica ADN Argentina ABO system Cosmopolitan populations Polymorphisms Gene admixture Ciencias de la vida
spellingShingle	Sistema ABO Polimorfismos Mezcla genica ADN Argentina ABO system Cosmopolitan populations Polymorphisms Gene admixture Ciencias de la vida Vaccaro, María Silvina Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina
topic_facet	Sistema ABO Polimorfismos Mezcla genica ADN Argentina ABO system Cosmopolitan populations Polymorphisms Gene admixture Ciencias de la vida
description	The main objective of this thesis was to increase knowledge about the ABO system in Argentina, using molecular techniques. We investigated the distribution of polymorphisms in seven cosmopolitan populations (Metropolitan Area of Buenos Aires, Mar del Plata, Bahía Blanca, Salta, Comodoro Rivadavia, Puerto Madryn and Esquel) and compared them with other populations worldwide.\nThe allelic variants, A, B, O01, O02 and O03, were characterized in 578 blood samples from unrelated individuals through the analysis of exons 6 and 7 of the ABO gene by PCR-RFLP. Considering all the samples as a whole, 41% were observed for the genotype O01, 32% for O02, 20% for A, 5% for the B allele and 2% for O03. But an important variation was observed in the different regions of the country. The highest values of alleles A and B (which are practically absent in autochthonous populations) were presented in the samples of the Pampean Region, while the lowest values were presented in Esquel and Salta. In this last city and in Comodoro Rivadavia, the highest prevalence of O02 was registered (variant with the highest prevalence in Native Americans).\nWhen estimating the gene admixture, the highest percentages of European contribution were observed in the Pampean region (range 79% - 89%) followed by the south (range 52% - 71%) and north (40,3%). The autochthonous component was in the ranges of 11% - 19%, 25,0% - 48% and 55%, respectively. While the largest African presence was observed in Salta (4,6%) and the lowest in Esquel (0,6%).\nThe importance of the study of molecular variants to analyze genetic ancestry could be appreciated. Knowing how the population is composed is important in biomedicine, since the presence of autochthonous and sub-Saharan contributions warns us about the error of assuming that in our country the same frequencies as in Europe would be registered, of pathologies with genetic bases of differential population distribution.
author2	Dejean, Cristina Beatriz
author_facet	Dejean, Cristina Beatriz Vaccaro, María Silvina
format	Tesis de maestría Tesis de maestría acceptedVersion
author	Vaccaro, María Silvina
author_sort	Vaccaro, María Silvina
title	Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina
title_short	Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina
title_full	Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina
title_fullStr	Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina
title_full_unstemmed	Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina
title_sort	determinación molecular del sistema abo en muestras cosmopolitas de la argentina
publisher	Facultad de Farmacia y Biquímica
publishDate	2018
url	http://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=afamaster&cl=CL1&d=HWA_2208 http://repositoriouba.sisbi.uba.ar/gsdl/collect/afamaster/index/assoc/HWA_2208.dir/2208.PDF
work_keys_str_mv	AT vaccaromariasilvina determinacionmoleculardelsistemaaboenmuestrascosmopolitasdelaargentina
_version_	1766017498901118976
spelling	I28-R145-HWA_22082022-02-15 The main objective of this thesis was to increase knowledge about the ABO system in Argentina, using molecular techniques. We investigated the distribution of polymorphisms in seven cosmopolitan populations (Metropolitan Area of Buenos Aires, Mar del Plata, Bahía Blanca, Salta, Comodoro Rivadavia, Puerto Madryn and Esquel) and compared them with other populations worldwide.\nThe allelic variants, A, B, O01, O02 and O03, were characterized in 578 blood samples from unrelated individuals through the analysis of exons 6 and 7 of the ABO gene by PCR-RFLP. Considering all the samples as a whole, 41% were observed for the genotype O01, 32% for O02, 20% for A, 5% for the B allele and 2% for O03. But an important variation was observed in the different regions of the country. The highest values of alleles A and B (which are practically absent in autochthonous populations) were presented in the samples of the Pampean Region, while the lowest values were presented in Esquel and Salta. In this last city and in Comodoro Rivadavia, the highest prevalence of O02 was registered (variant with the highest prevalence in Native Americans).\nWhen estimating the gene admixture, the highest percentages of European contribution were observed in the Pampean region (range 79% - 89%) followed by the south (range 52% - 71%) and north (40,3%). The autochthonous component was in the ranges of 11% - 19%, 25,0% - 48% and 55%, respectively. While the largest African presence was observed in Salta (4,6%) and the lowest in Esquel (0,6%).\nThe importance of the study of molecular variants to analyze genetic ancestry could be appreciated. Knowing how the population is composed is important in biomedicine, since the presence of autochthonous and sub-Saharan contributions warns us about the error of assuming that in our country the same frequencies as in Europe would be registered, of pathologies with genetic bases of differential population distribution. Fil: Vaccaro, María Silvina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Buenos Aires, Argentina Dejean, Cristina Beatriz Facultad de Farmacia y Biquímica Avena, Sergio Vaccaro, María Silvina 2018-04-24 El objetivo principal de esta tesis fue incrementar los conocimientos sobre el sistema ABO en Argentina, utilizando para ello técnicas moleculares. Se investigó la distribución de polimorfismos en siete poblaciones cosmopolitas (Área Metropolitana de Buenos Aires, Mar del Plata, Bahía Blanca, Salta, Comodoro Rivadavia, Puerto Madryn y Esquel) y se las comparó con otras poblaciones a nivel mundial.\nSe caracterizaron las variantes alélicas, A, B, O01, O02 y O03, en 578 muestras sanguíneas de individuos no emparentados mediante el análisis de los exones 6 y 7 del gen ABO por PCR-RFLP. Considerando todas las muestras en conjunto, se observó un 41% para el genotipo O01, 32% para O02, 20% de A, 5% del alelo B y 2% de O03. Pero se observó una importante variación en las distintas regiones del país. Los mayores valores de los alelos A y B (que están prácticamente ausentes en poblaciones autócotonas) se presentaron en las muestras de la Región Pampeana, mientras que los menores valores se presentaron en Esquel y Salta. En esta última ciudad y en Comodoro Rivadavia se registró la prevalencia más alta de O02 (variante de mayor prevalencia en\nnativo-americanos).\nAl estimar la mezcla génica, se observaron los mayores porcentajes de aporte\neuropeo en la región pampeana (rango 79% - 89%) seguido por el sur (rango\n52% -71%) y el norte (40,3%). El componente autóctono estuvo en los rangos del\n11% - 19%, 25,0% - 48% y 55%, respectivamente. Mientras que la mayor\npresencia africana se observó en Salta (4,6%) y la menor en Esquel (0,6%).\nSe pudo apreciar la importancia del estudio de las variantes moleculares para\nanalizar la ancestría genética. Conocer cómo está compuesta la población tiene\nimportancia en biomedicina, ya que la presencia de los aportes autóctonos y\nsubsaharianos nos previene acerca del error de asumir que en nuestro país se\nregistrarían las mismas frecuencias que en Europa, de patologías con bases\ngenéticas de distribución poblacional diferencial. application/pdf Rey, Jorge Rossetti, Liliana Sala, Andrea Sistema ABO Polimorfismos Mezcla genica ADN Argentina ABO system Cosmopolitan populations Polymorphisms Gene admixture spa Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by-nc-nd/2.5/ar/ Ciencias de la vida Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina info:eu-repo/semantics/masterThesis info:ar-repo/semantics/tesis de maestría info:eu-repo/semantics/acceptedVersion http://repositoriouba.sisbi.uba.ar/gsdl/cgi-bin/library.cgi?a=d&c=afamaster&cl=CL1&d=HWA_2208 http://repositoriouba.sisbi.uba.ar/gsdl/collect/afamaster/index/assoc/HWA_2208.dir/2208.PDF

Determinación molecular del sistema ABO en muestras cosmopolitas de la Argentina

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