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Similarly to other populations across the Americas, Argentinean populations trace back their genetic ancestry into African, European and Native American ancestors, reflecting a complex demographic history with multiple migration and admixture events in pre- and post-colonial times. However, little is known about the sub-continental origins of these three main ancestries. We present new high-throughput genotyping data for 87 admixed individuals across Argentina. This data was combined to previously published data for admixed individuals in the region and then compared to different reference panels specifically built to perform population structure analyses at a sub-continental level. Concerning the Native American ancestry, we could identify four Native American components segregating in modern Argentinean populations. Three of them are also found in modern South American populations and are specifically represented in Central Andes, Central Chile/Patagonia, and Subtropical and Tropical Forests geographic areas. The fourth component might be specific to the Central Western region of Argentina, and it is not well represented in any genomic data from the literature. As for the European and African ancestries, we confirmed previous results about origins from Southern Europe, Western and Central Western Africa, and we provide evidences for the presence of Northern European and Eastern African ancestries.

As in other Latin American populations, Argentinians are the result of the admixture amongst different continental groups, mainly from America and Europe, and to a lesser extent from Sub-Saharan Africa. However, it is known that the admixture processes did not occur homogeneously throughout the country. Therefore, considering the importance for anthropological, medical and forensic researches, this study aimed to investigate the population genetic structure of the Argentinian Patagonia, through the analysis of 46 ancestry informative markers, in 433 individuals from five different localities. Overall, in the Patagonian sample, the average individual ancestry was estimated as 35.8% Native American (95% CI: 32.2-39.4%), 62.1% European (58.5-65.7%) and 2.1% African (1.7-2.4%). Comparing the five localities studied, statistically significant differences were observed for the Native American and European contributions, but not for the African ancestry. The admixture results combined with the genealogical information revealed intra-regional variations that are consistent with the different geographic origin of the participants and their ancestors. As expected, a high European ancestry was observed for donors with four grandparents born in Europe (96.8%) or in the Central region of Argentina (85%). In contrast, the Native American ancestry increased when the four grandparents were born in the North (71%) or in the South (61.9%) regions of the country, or even in Chile (60.5%). In summary, our results showed that differences on continental ancestry contribution have different origins in each region in Patagonia, and even in each locality, highlighting the importance of knowing the origin of the participants and their ancestors for the correct interpretation and contextualization of the genetic information.

The population of Argentina is the result of the intermixing between several groups, including Indigenous American, European and African populations. Despite the commonly held idea that the population of Argentina is of mostly European origin, multiple studies have shown that this process of admixture had an impact in the entire Argentine population. In the present study we characterized the distribution of Indigenous American, European and African ancestry among individuals from different regions of Argentina and evaluated the level of discrepancy between self-reported grandparental origin and genetic ancestry estimates. A set of 99 autosomal ancestry informative markers (AIMs) was genotyped in a sample of 441 Argentine individuals to estimate genetic ancestry. We used non-parametric tests to evaluate statistical significance. The average ancestry for the Argentine sample overall was 65% European (95%CI: 63-68%), 31% Indigenous American (28-33%) and 4% African (3-4%). We observed statistically significant differences in European ancestry across Argentine regions [Buenos Aires province (BA) 76%, 95%CI: 73-79%; Northeast (NEA) 54%, 95%CI: 49-58%; Northwest (NWA) 33%, 95%CI: 21-41%; South 54%, 95%CI: 49-59%; p<0.0001] as well as between the capital and immediate suburbs of Buenos Aires city compared to more distant suburbs [80% (95%CI: 75-86%) versus 68% (95%CI: 58-77%), p = 0.01]. European ancestry among individuals that declared all grandparents born in Europe was 91% (95%CI: 88-94%) compared to 54% (95%CI: 51-57%) among those with no European grandparents (p<0.001). Our results demonstrate the range of variation in genetic ancestry among Argentine individuals from different regions in the country, highlighting the importance of taking this variation into account in genetic association and admixture mapping studies in this population.

Allele frequencies and forensic parameters for 15 autosomal loci included in the AmpFlSTR® Identifiler kit were estimated in a sample of 57 unrelated Afro-descendants from Nor Yungas (Bolivia). Buccal swabs samples were obtained from voluntary donors, after consent was given. All loci were in Hardy-Weinberg equilibrium after Bonferroni correction. D21S11 was the most informative locus, while the least discriminating locus was D3S1358. The combined power of discrimination and the combined probability of exclusion were >0.99999999 and >0.99997, respectively. The multidimensional scaling (MDS) plot generated by Rst matrix supported that Afro-Bolivians of Nor Yungas preserved a stronger African descent compared to other admixed Latin American populations. These results amplified the Bolivian databases of autosomal STR loci and may provide a useful tool for human identification tests and population genetic studies.

Este artículo propone una aproximación etnográfica al estudio de las perspectivas, motivaciones e intereses de los individuos participantes en el proyecto “Ancestría genética e identidad”. Basados en un corpus de entrevistas y en un marco teórico que utiliza los conceptos de genealogía y pedigrí, indagamos la significación que el dato genético adquiere en la recreación de las historias e identidades personales y familiares, así como el modo en que el test de ancestría genética se articula y entra en negociación con otras experiencias y registros de tipo oral o escrito. En el marco de las investigaciones desarrolladas en este campo, también señalamos la importancia de considerar los contextos sociales, jurídicos y políticos para comprender el impacto de estas nuevas tecnologías.

Abstract Since the late nineteenth century, people in Argentina consider to be a homogeneous society of white-European culture and phenotypic traits, with Buenos Aires as an epicenter. In this article we work with interviews and genetic analysis results of 40 participants of the project \"Genetic Ancestry and Identity\", to contextualize the social processes that underlie this concept and to relate the individual genetic data to the history of society. Gene admixture estimation through genetic markers and demographic data in a sample from Buenos Aires Metropolitan Area. Gender bias in the multi-ethnic genetic composition of central Argentina.

The increasing use of massively parallel sequencing in the study of current and ancient human populations has enabled new approaches to bioanthropological and archaeological issues; however, its application to archaeological samples requires the use of technologies that are not easily accessible outside US and European research centers. To obtain an ancient mitogenome in Argentina, several institutions collaborated to apply massively parallel sequencing and bioinformatic methodologies on an enriched ancient DNA library of an individual from the Beagle Channel (dated 1504 ± 46 years BP), a region of particular interest for this line of inquiry. Phylogenetic reconstruction showed a close relationship with a Yamana from Navarino Island and an individual from Hoste Island (Chilean Antarctic Province): the three shared an ancestor who lived between 203 and 4,439 years ago. These three have mutations reported only for current and ancient individuals from the Beagle Channel, and their relationship with the rest of the D1g sub-haplogroups is unclear. The results obtained here are consistent with the reduction of mobility in the Fuegian archipelago around 4500 years BP that has been proposed based on archaeological evidence.

Fil: Crespo, Cristian Marcelo. Universidad Nacional de Tierra del Fuego. Instituto de Ciencias Polares, Recursos Naturales y Ambiente; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina

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