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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| Formato: | Tesis de maestría acceptedVersion |
| Lenguaje: | Español |
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Facultad de Farmacia y Biquímica
2018
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| 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 |
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| Sumario: | 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. |
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