Molecular polymorphisms of the ABO locus as informative markers of ancestry in Central Argentina

PAURO, MAIA; NORES, RODRIGO; GARCÍA, ANGELINA; DEMARCHI, DARÍO A.; TAVELLA, MARÍA PÍA; PAURO, MAIA; NORES, RODRIGO; GARCÍA, ANGELINA; DEMARCHI, DARÍO A.; TAVELLA, MARÍA PÍA

AMERICAN JOURNAL OF HUMAN BIOLOGY

WILEY-LISS, DIV JOHN WILEY & SONS INC

Año: 2017 p. 1 - 6

1042-0533

Objectives: The aim of this study was to investigate the distribution of molecular polymorphismsof the ABO gene in four population samples from the province of Cordoba,in Central Argentina, and to compare them with other worldwide populations.Methods: A total of 110 buccal swab samples from autochthonous individuals ofCordoba were typified. Molecular characterization of the allelic variants was performedby the analysis of exons 6 and 7 of the ABO gene using PCR-RFLP analysis. Additionally,the Native American AIM O1v542 was characterized by direct sequencing.Results: The four Cordoba populations did not show significant geographic structure,although the frequency of the O1v542 haplotype, detected in all the populationsstudied, ranged from 0.019 to 0.222. The principal component analysis based on Oallele distribution showed that the populations from Cordoba clustered close to theadmixed populations of Santiago and Mexico City, and at intermediate distancesbetween European and Native American populations, while being distant from theAfrican population.Conclusions: The results demonstrate that the analysis of the ABO system constitutesa useful tool for the study of the genetic structure and evolutionary history ofhuman populations, reflecting accurately the relative contribution of parental continentalcontribution to the gene pool of admixed populations.