Novel B2 mitogenomes from Continental southern Patagonia's Late Holocene: New insights into the peopling of the Southern Cone.

OBJECTIVES: The main aim of this study is to discuss the migratory processes and peopling dynamics that shaped the genetic variability of populations during the settlement of the Southern Cone, through the analysis of complete mitogenomes of individuals from southern Patagonia. MATERIALS AND METHODS: Complete mitogenomes were sequenced through massively parallel sequencing from two late Holocene individuals (SAC 1-1-3 and SAC 1-1-4) buried in the same chenque at Salitroso Lake Basin (Santa Cruz province, Argentina). To evaluate matrilineal phylogenetic affinities with other haplotypes, maximum likelihood and Bayesian phylogenetic reconstructions were performed, as well as a haplotype median-joining network. RESULTS: The mitogenomes were assigned to haplogroups B2 and B2b, exhibiting an average depth of 54X and 89X (≥1X coverage of 98.6% and 100%), and a high number of nucleotide differences among them. The phylogenetic analyses showed a relatively close relationship between the haplotype found in SAC 1-1-4 and those retrieved from a Middle Holocene individual from Laguna Chica (Buenos Aires province), and from a group of individuals from the Peruvian coast. For the SAC 1-1-3, no clear affiliations to any other haplotype were established. DISCUSSION: The large divergence between the haplotypes presented in this study suggests either a highly variable founder gene pool, or a later enrichment by frequent biological contact with other populations. Our results underline the persistence of genetic signals related to the first waves of peopling in South America, suggesting that the regional settlement of the southern end of the continent has been much more complex than initially thought.

OBJETIVOS: El objetivo principal de este estudio es discutir los procesos migratorios y la dinámica de poblamiento que moldearon la variabilidad genética de las poblaciones durante el poblamiento del Cono Sur, a través del análisis de mitogenomas completos de individuos del sur de Patagonia. MATERIALES Y MÉTODOS: Se obtuvieron mitogenomas completos mediante secuenciación masiva de dos individuos del Holoceno tardío (SAC 1-1-3 y SAC 1-1-4) enterrados en el mismo chenque en la Cuenca del Lago Salitroso (provincia de Santa Cruz, Argentina). Para evaluar las afinidades matrilineales con otros haplotipos, se realizaron reconstrucciones filogenéticas de máxima verosimilitud y bayesianas, así como una red mediana de haplotipos. RESULTADOS: Los mitogenomas fueron asignados a los haplogrupos B2 y B2b, exhibiendo una profundidad de secuenciación promedio de 54X y 89X (cobertura ≥1X de 98,6% y 100%), y un elevado número de diferencias nucleotídicas entre ellos. Los análisis filogenéticos mostraron una relación relativamente estrecha entre el haplotipo encontrado en el SAC 1-1-4 y los recuperados de un individuo del Holoceno Medio de Laguna Chica (provincia de Buenos Aires), y de un grupo de individuos de la costa peruana. Para el SAC 1-1-3, no se establecieron relaciones claras con ningún otro haplotipo. DISCUSIÓN: La gran divergencia entre los haplotipos presentados en este estudio sugiere gran variabilidad en el acervo genético fundador, o bien un enriquecimiento posterior por contacto biológico frecuente con otras poblaciones. Nuestros resultados destacan la persistencia de señales genéticas relacionadas con las primeras oleadas de poblamiento de Sudamérica, lo que sugiere que el poblamiento regional del extremo sur del continente ha sido mucho más complejo de lo que se pensaba inicialmente.

Ancient mitochondrial genome diversity in South America: Contributions from Quebrada del Toro, Northwestern Argentina.

OBJECTIVES: The objective of this study was to enhance our understanding of the population history in South America, specifically Northwestern Argentina, by analyzing complete ancient mitogenomes of individuals from the Ojo de Agua archeological site (970 BP) in Quebrada del Toro (Salta, Argentina). MATERIALS AND METHODS: We analyzed teeth from four individuals from the site Ojo de Agua (970 ± 60 BP), located in Quebrada del Toro (Andean region of Northwestern Argentina). DNA extracts were converted to double-stranded DNA libraries and indexed using unique dual-indexing primer combinations. DNA libraries were then enriched for the complete mitochondrial genome, pooled at equimolar concentrations, and sequenced on an Illumina® MiSeq™ platform. Reads from high quality libraries were trimmed, merged, and then mapped to the revised Cambridge Reference Sequence. The aDNA damage patterns were assessed and contamination estimated. Finally, variants were called, filtered, and the consensus mitogenome was constructed and used for haplogroup assignment. We also compiled available mitogenome sequences from ancient and present-day populations from the Southcentral Andes and other surrounding regions in Argentina. Maximum Likelihood and Bayesian phylogenetic reconstructions were obtained using the generated dataset. RESULTS: We successfully obtained the complete mitogenome sequence from one individual with an average depth coverage of 102X. We discovered a novel haplotype that was assigned to haplogroup D1. Phylogenetic reconstructions suggests that this haplotype falls within the sister branches of the D1j lineage, forming a well-supported clade. The estimate TMRCA of this clade that includes D1j and its sister branches ranged between 12,535 and 18,669 ya. DISCUSSION: The sequence analyzed in this study represents the first ancient mitogenome from within the valley region in Northwestern Argentina. We found that a representative of a lineage highly associated with D1j was already present approximately 1000 BP in the region. Our results agree with the proposed origin of D1j in other regions north of Patagonia and independent of the Pacific coast fast migratory route, contrary to what was originally hypothesized. This study highlights the lack of information regarding pre-Hispanic genetic diversity and contributes to the knowledge about the peopling process in South America.

OBJETIVOS: El objetivo de este estudio fue contribuir a mejorar la comprensión del poblamiento de Sudamérica, específicamente del Noroeste Argentino, mediante el análisis de mitogenomas antiguos completos de individuos del sitio arqueológico Ojo de Agua (970 AP), Quebrada del Toro (Salta, Argentina). MATERIALES Y MÉTODOS: Se analizaron dientes de cuatro individuos del sitio Ojo de Agua (970 ± 60 AP), ubicado en la Quebrada del Toro (región andina del Noroeste Argentino). A partir de los extractos de ADN se armaron librerías doble cadena y se indexaron utilizando combinaciones únicas de pares de cebadores. Las librerías fueron luego enriquecidas en ADN mitocondrial, llevadas a concentraciones equimolares y secuenciadas en una plataforma Illumina® MiSeq™. Las lecturas de las librerías de alta calidad fueron recortadas, fusionadas y, posteriormente, alineadas con la Secuencia de Referencia de Cambridge revisada. Se evaluaron los patrones de daño del ADNa y se estimó la contaminación. Por último, se identificaron las variantes, se filtraron y se construyó el mitogenoma consenso, que se utilizó para la asignación de haplogrupos. Además, se recopilaron secuencias de mitogenomas disponibles para poblaciones pre-hispánicas y actuales de los Andes Centrosur y otras regiones adyacentes de Argentina. Utilizando el conjunto de datos generado, se obtuvieron reconstrucciones filogenéticas mediante Máxima Verosimilitud y estimación Bayesiana. RESULTADOS: Se obtuvo la secuencia completa del mitogenoma de un individuo con una profundidad media de 102X. Esta secuencia corresponde a un nuevo haplotipo que fue asignado al haplogrupo D1. Las reconstrucciones filogenéticas sugirieron que este haplotipo se encuentra dentro del grupo hermano del linaje D1j, conformando un clado bien soportado. La datación estimada para este clado que contiene a D1j y a todo su grupo hermano fue de entre 12.535 y 18.669 años atrás. DISCUSIÓN: La secuencia analizada en este estudio representa el primer mitogenoma antiguo de la región valliserrana del Noroeste Argentino. Se halló que un representante de un linaje altamente asociado con D1j ya estaba presente hace aproximadamente 1000 años AP en la región. Nuestros resultados concuerdan con un origen de D1j en otras regiones al norte de la Patagonia, e independientemente de la ruta migratoria rápida por la costa del Pacífico, en contraposición a lo planteado inicialmente. Este estudio pone en evidencia la falta de información que se tiene actualmente sobre la diversidad genética en tiempos prehispánicos y contribuye al conocimiento del proceso de poblamiento de Sudamérica.

Applicability of the IrisPlex system for eye color prediction in an admixed population from Argentina.

Eye color prediction based on an individual's genetic information is of interest in the field of forensic genetics. In recent years, researchers have studied different genes and markers associated with this externally visible characteristic and have developed methods for its prediction. The IrisPlex represents a validated tool for homogeneous populations, though its applicability in populations of mixed ancestry is limited, mainly regarding the prediction of intermediate eye colors. With the aim of validating the applicability of this system in an admixed population from Argentina (n = 302), we analyzed the six single nucleotide variants used in that multiplex for eye color and four additional SNPs, and evaluated its prediction ability. We also performed a genotype-phenotype association analysis. This system proved to be useful when dealing with the extreme ends of the eye color spectrum (blue and brown) but presented difficulties in determining the intermediate phenotypes (green), which were found in a large proportion of our population. We concluded that these genetic tools should be used with caution in admixed populations and that more studies are required in order to improve the prediction of intermediate phenotypes.

Distribution of maternal lineages in hunter-gatherer societies of the southern coast of Tierra del Fuego, Argentina.

OBJECTIVES: The aim of this work is to explore the maternal genetic diversity of hunter-gatherers of the southern Tierra del Fuego, specifically the north coast of Beagle Channel, the Península Mitre, and Isla de los Estados through ancient mitochondrial DNA analysis. MATERIALS AND METHODS: The hypervariable regions 1 and 2 of the mitochondrial genome of five individuals from the north coast of Beagle Channel, six individuals from Península Mitre, and one individual from Isla de los Estados were analyzed. Through diversity statistics, Analysis of Molecular Variance (AMOVA), and Median Joining networks analyses, maternal relationships in the region were evaluated and phylogenetic similarities between ancient and contemporary populations of Tierra del Fuego were determined. RESULTS: The mitochondrial DNA lineages from the ancient individuals analyzed reveals the presence of subclades C1b and D1g. Pattern of decreasing genetic diversity toward the South is observed. The AMOVAs performed found no statistically significant differences between individuals of the north coast of Beagle Channel and Península Mitre-Isla de los Estados, and modern Yámana populations. Median joining network of haplotypes of clades C1 and D1g, show the same results. DISCUSSION: Ethnohistoric and ethnographic records of Península Mitre show that this region was occupied during the 19th century by Haush or Manekenk populations, although their biological, cultural, and subsistence characterization is unclear. We explore their maternal lineages and encounter low levels of genetic diversity and the absence of population differentiation with modern Yámana groups. We suggest that Península Mitre-Isla de los Estado was part of the same hunting and gathering populations as those of the Beagle Channel.

Fine-scale genomic analyses of admixed individuals reveal unrecognized genetic ancestry components in Argentina.

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.

First analysis of mitochondrial lineages from the eastern Pampa-Patagonia transition during the final late Holocene.

OBJECTIVE: Studies on population genetics have become highly relevant for understanding the evolutionary history of human settlement in southern South America. The eastern Pampa-Patagonia transition is an area that stands out due to its complex population dynamics, especially during the last about 1,000 years BP. The aim of this work is to characterize the maternal lineages of individuals buried in the Paso Alsina 1 archaeological site (ca. 500 years BP) through the analysis of mitochondrial genetic variability, in order to discuss the population models previously proposed for the southern cone of South America. METHODS: Mitochondrial HyperVariable Region I sequences were analyzed on teeth belonging to 20 adult individuals. Statistical analyses were carried out to compare the interpopulation and intrapopulation molecular variability between the results obtained in this work and those previously published data from pre-Hispanic human groups. D1 haplotype network was constructed drawing from data on ancient and extant population group samples. RESULTS: Thirteen sequences (65%) were obtained from the 20 analyzed samples. The maternal lineages or subhaplogroups identified were D1g (69.24%), C1 (15.38%), D1 (7.69%), and D1j (7.69%). There was low haplotype variability within the site; some individuals could be matrilineally related. DISCUSSION: The subhaplogroups registered in Paso Alsina 1 site are in accordance with those reported for ancient and contemporary Patagonian populations. The results suggest that an initial nucleus of individuals carrying mostly subhaplogroup D1g settled in northern Patagonia, from which local diversity of this matrilineage could have arisen. The existence of gene flow in the final late Holocene with groups from Northern Andean Patagonia, as well as from Central Argentina, is proposed. The D1j variant probably developed in the latter region.

Mitochondrial DNA Diversity and Evolutionary History of Native Human Populations of Argentinean Northwest Patagonia.

The genetic composition of Amerindian descendants from Patagonia has long been a focus of interest, although the information available is still scarce for many geographic areas. Here, we report the first analysis of the variation in the mitochondrial DNA (mtDNA) control region for an area of northwestern Patagonia, the North of Neuquén, with the aim of studying the processes and historical events that modeled the evolutionary history of these human groups. We analyzed 113 individuals from two localities of northern Neuquén, along with 6 from southern Neuquén and 223 previously published mtDNA sequences from neighboring areas in Argentina and Chile. We estimated the haplotypic variation and spatial structure of molecular variability. Amerindian subhaplogroups predominate in the two samples from northern Neuquén (n = 70), with D1g and C1b13 the most represented, although in different proportions. These samples exhibit Amerindian mtDNA haplotypes similar to the variants from neighboring areas. Most of haplotype variability was within group; variation among groups was relatively low and scarcely associated with geographical space. The most frequent subhaplogroups in northern Neuquén are characteristic of native populations from Patagonia and Chilean Araucanía, and probably originated in the region during the Late Pleistocene or Early Holocene. However, the spatial variation of mtDNA haplotypes departs from a latitudinal pattern and suggests differential levels of gene flow among areas during the Late Holocene, with moderate levels across the North of Neuquén as well as between this area and neighboring populations from Chile, the South of Neuquén, and Río Negro.

Ancient DNA reveals temporal population structure within the South-Central Andes area.

OBJECTIVES: The main aim of this work was to contribute to the knowledge of pre-Hispanic genetic variation and population structure among the South-central Andes Area by studying individuals from Quebrada de Humahuaca, North-western (NW) Argentina. MATERIALS AND METHODS: We analyzed 15 autosomal STRs in 19 individuals from several archaeological sites in Quebrada de Humahuaca, belonging to the Regional Developments Period (900-1430 AD). Compiling autosomal, mitochondrial, and Y-chromosome data, we evaluated population structure and differentiation among eight South-central Andean groups from the current territories of NW Argentina and Peru. RESULTS: Autosomal data revealed a structuring of the analyzed populations into two clusters which seemed to represent different temporalities in the Andean pre-Hispanic history: pre-Inca and Inca. All pre-Inca samples fell into the same cluster despite being from the two different territories of NW Argentina and Peru. Also, they were systematically differentiated from the Peruvian Inca group. These results were mostly confirmed by mitochondrial and Y-chromosome analyses. We mainly found a clearly different haplotype composition between clusters. DISCUSSION: Population structure in South America has been mostly studied on current native groups, mainly showing a west-to-east differentiation between the Andean and lowland regions. Here we demonstrated that genetic population differentiation preceded the European contact and might have been more complex than thought, being found within the South-central Andes Area. Moreover, divergence among temporally different populations might be reflecting socio-political changes occurred in the evermore complex pre-Hispanic Andean societies.

Identificación del complejo rojo en la necrosis pulpar abierta y cerrada con técnicas moleculares / Red complex identification in exposed and unexposed necrotic pulp with molecular techniques

Objetivo: identificar el complejo rojo periodontal, formado por Porphyromonas gingivalis, Treponema denticola y Tannerella forsythia, en la infección endodóntica primaria de necrosis pulpar, con cámara abierta y cerrada, utilizando técnicas de reacción en cadena de la polimerasa. Materiales y métodos: se realizó la toma para reacción en cadena de la polimerasa en 27 dientes con necrosis pulpar, 13 con cámara pulpar abierta y 14 con cámara cerrada. Resultados: en las muestras de necrosis abierta se identificaron P. gingivalis en un 92 por ciento, T. denticola en un 76 por ciento, T. forsythia en un 76 por ciento y el complejo rojo en un 61 por ciento. Las tomas de necrosis cerrada mostraron P. gingivalis en un 78 por ciento y T. denticola en un 57 por ciento; no se identificaron T. forsythia ni el complejo rojo. El análisis estadístico evidenció diferencias significativas entre los dos grupos (P<0,05). Conclusión: el sinergismo de las tres bacterias que forman el complejo rojo agravaría la patogénesis de la infección endodóntica y permitiría relacionar la microbiología endodóntica con la microbiología de periodontitis crónica.

Pre-Hispanic Mortuary Practices in Quebrada de Humahuaca (North-Western Argentina): Genetic Relatedness among Individuals Buried in the Same Grave.

Almost all pre-Hispanic societies from Quebrada de Humahuaca (north-western Argentina) buried their defuncts in domestic areas, demonstrating the importance of death and its daily presence among the living. Presumably, the collective graves contained related individuals, a hypothesis that can be tested through the study of ancient DNA. This study analyzes autosomal and uniparental genetic markers in individuals from two archaeological sites in Quebrada de Humahuaca occupied during the Late Formative (1450-1050 BP) and Regional Developments I (1050-700 BP) periods. Mitochondrial and Y-chromosome haplotypes were compared in order to establish possible maternal and paternal relatedness. Genotypes for 15 autosomal STRs were used to calculate pairwise relatedness coefficients and pedigree probabilities. High kinship levels among individuals buried in the same graves were found in both sites. Although only two particular cases were analyzed, these results represent an important contribution to the study of mortuary practices in the region by means of ancient DNA.

Population Genetics of Franciscana Dolphins (Pontoporia blainvillei): Introducing a New Population from the Southern Edge of Their Distribution.

Due to anthropogenic factors, the franciscana dolphin, Pontoporia blainvillei, is the most threatened small cetacean on the Atlantic coast of South America. Four Franciscana Management Areas have been proposed: Espiritu Santo to Rio de Janeiro (FMA I), São Paulo to Santa Catarina (FMA II), Rio Grande do Sul to Uruguay (FMA III), and Argentina (FMA IV). Further genetic studies distinguished additional populations within these FMAs. We analyzed the population structure, phylogeography, and demographic history in the southernmost portion of the species range. From the analysis of mitochondrial DNA control region sequences, 5 novel haplotypes were found, totalizing 60 haplotypes for the entire distribution range. The haplotype network did not show an apparent phylogeographical signal for the southern FMAs. Two populations were identified: Monte Hermoso (MH) and Necochea (NC)+Claromecó (CL)+Río Negro (RN). The low levels of genetic variability, the relative constant size over time, and the low levels of gene flow may indicate that MH has been colonized by a few maternal lineages and became isolated from geographically close populations. The apparent increase in NC+CL+RN size would be consistent with the higher genetic variability found, since genetic diversity is generally higher in older and expanding populations. Additionally, RN may have experienced a recent split from CL and NC; current high levels of gene flow may be occurring between the latter ones. FMA IV would comprise four franciscana dolphin populations: Samborombón West+Samborombón South, Cabo San Antonio+Buenos Aires East, NC+CL+Buenos Aires Southwest+RN and MH. Results achieved in this study need to be taken into account in order to ensure the long-term survival of the species.

Heterogeneity in genetic admixture across different regions of Argentina.

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.

Paleogenetical study of pre-Columbian samples from Pampa Grande (Salta, Argentina).

Ancient DNA recovered from 21 individuals excavated from burial sites in the Pampa Grande (PG) region (Salta province) of North-Western Argentina (NWA) was analyzed using various genetic markers (mitochondrial DNA, autosomal STRs, and Y chromosomal STRs). The results were compared to ancient and modern DNA from various populations in the Andean and North Argentinean regions, with the aim of establishing their relationships with PG. The mitochondrial haplogroup frequencies described (11% A, 47% B, and 42% D) presented values comparable to those found for the ancient Andean populations from Peru and San Pedro de Atacama. On the other hand, mitochondrial and Y chromosomal haplotypes were specific to PG, as they did not match any other of the South American populations studied. The described genetic diversity indicates homogeneity in the genetic structure of the ancient Andean populations, which was probably facilitated by the intense exchange network in the Andean zone, in particular among Tiwanaku, San Pedro de Atacama, and NWA. The discovery of haplotypes unique to PG could be due to a loss of genetic diversity caused by recent events affecting the autochthonous populations (establishment of the Inca Empire in the region, colonization by the Europeans).

[Gene mixture in a population sample from Buenos Aires City]. / Mezcla genica en una muestra poblacional de la Ciudad de Buenos Aires.

The aim of this study is to estimate the gene admixture in the population of Buenos Aires City from samples of blood donors, which come from a public health centre (Hospital de Clínicas). These studies were performed on 218 unrelated people, who donated blood during the year 2002. Eight erythrocyte genetic systems and GM/KM allotypes were analysed. A survey to obtain information about place of birth, present residence and genealogical data of the donors was performed. The gene frequencies were determined using a method of maximum likelihood. The genetic admixture was calculated through the ADMIX program (trihibride). The Amerindian and African contributions were 15.8% and 4.3% respectively. These data were compared with those obtained in a previous study performed in a private centre (Hospital Italiano de Buenos Aires) and significant differences were observed, except in the KM system. The results obtained are in concordance with the demographic and historic information of Buenos Aires City.

Mezcla genica en una muestra poblacional de la ciudad de Buenos Aires / Gene mixture in a population sample from Buenos Aires City

Este estudio tiene como objetivo estimar la mezcla génica en la población de la Ciudad de BuenosAires, a partir de muestras de dadores de sangre provenientes de un centro público de salud (Hospitalde Clínicas). Los estudios se realizaron sobre 218 personas no emparentadas que donaron su sangre duranteel año 2002. Se analizaron 8 sistemas genéticos eritrocitarios y los alotipos GM/KM. Se realizó una encuestacon la finalidad de obtener información sobre lugar de nacimiento, residencia actual y datos genealógicosde los dadores. Las frecuencias génicas se determinaron empleando métodos de máxima verosimilitud. Paracalcular la mezcla génica se aplicó el programa ADMIX (trihíbrido). Se registró un 15.8% de aporte indígena(AI) y 4.3% de africano (AA). Estos datos se compararon con un estudio previo realizado en un centro privado(Hospital Italiano de Buenos Aires), no observándose diferencias significativas salvo en el sistema Km. Los resultadosobtenidos se corresponden con la información histórica y demográfica de la ciudad de Buenos Aires.

The aim of this study is to estimatethe gene admixture in the population of Buenos Aires City from samples of blood donors, whichcome from a public health centre (Hospital de Clínicas). These studies were performed on 218 unrelated people,who donated blood during the year 2002. Eight erythrocyte genetic systems and GM/KM allotypes were analysed.A survey to obtain information about place of birth, present residence and genealogical data of the donors wasperformed. The gene frequencies were determined using a method of maximum likelihood. The genetic admixturewas calculated through the ADMIX program (trihibride). The Amerindian and African contributions were 15.8%and 4.3% respectively. These data were compared with those obtained in a previous study performed in a privatecentre (Hospital Italiano de Buenos Aires) and significant differences were observed, except in the KM system.The results obtained are in concordance with the demographic and historic information of Buenos Aires City.

Mezcla genica en una muestra poblacional de la ciudad de Buenos Aires / Gene mixture in a population sample from Buenos Aires City

Este estudio tiene como objetivo estimar la mezcla génica en la población de la Ciudad de BuenosAires, a partir de muestras de dadores de sangre provenientes de un centro público de salud (Hospitalde Clínicas). Los estudios se realizaron sobre 218 personas no emparentadas que donaron su sangre duranteel año 2002. Se analizaron 8 sistemas genéticos eritrocitarios y los alotipos GM/KM. Se realizó una encuestacon la finalidad de obtener información sobre lugar de nacimiento, residencia actual y datos genealógicosde los dadores. Las frecuencias génicas se determinaron empleando métodos de máxima verosimilitud. Paracalcular la mezcla génica se aplicó el programa ADMIX (trihíbrido). Se registró un 15.8% de aporte indígena(AI) y 4.3% de africano (AA). Estos datos se compararon con un estudio previo realizado en un centro privado(Hospital Italiano de Buenos Aires), no observándose diferencias significativas salvo en el sistema Km. Los resultadosobtenidos se corresponden con la información histórica y demográfica de la ciudad de Buenos Aires. (AU)

The aim of this study is to estimatethe gene admixture in the population of Buenos Aires City from samples of blood donors, whichcome from a public health centre (Hospital de Clínicas). These studies were performed on 218 unrelated people,who donated blood during the year 2002. Eight erythrocyte genetic systems and GM/KM allotypes were analysed.A survey to obtain information about place of birth, present residence and genealogical data of the donors wasperformed. The gene frequencies were determined using a method of maximum likelihood. The genetic admixturewas calculated through the ADMIX program (trihibride). The Amerindian and African contributions were 15.8%and 4.3% respectively. These data were compared with those obtained in a previous study performed in a privatecentre (Hospital Italiano de Buenos Aires) and significant differences were observed, except in the KM system.The results obtained are in concordance with the demographic and historic information of Buenos Aires City. (AU)

Mezcla genica en una muestra poblacional de la ciudad de Buenos Aires / Gene mixture in a population sample from Buenos Aires City

Este estudio tiene como objetivo estimar la mezcla génica en la población de la Ciudad de BuenosAires, a partir de muestras de dadores de sangre provenientes de un centro público de salud (Hospitalde Clínicas). Los estudios se realizaron sobre 218 personas no emparentadas que donaron su sangre duranteel año 2002. Se analizaron 8 sistemas genéticos eritrocitarios y los alotipos GM/KM. Se realizó una encuestacon la finalidad de obtener información sobre lugar de nacimiento, residencia actual y datos genealógicosde los dadores. Las frecuencias génicas se determinaron empleando métodos de máxima verosimilitud. Paracalcular la mezcla génica se aplicó el programa ADMIX (trihíbrido). Se registró un 15.8% de aporte indígena(AI) y 4.3% de africano (AA). Estos datos se compararon con un estudio previo realizado en un centro privado(Hospital Italiano de Buenos Aires), no observándose diferencias significativas salvo en el sistema Km. Los resultadosobtenidos se corresponden con la información histórica y demográfica de la ciudad de Buenos Aires. (AU)

The aim of this study is to estimatethe gene admixture in the population of Buenos Aires City from samples of blood donors, whichcome from a public health centre (Hospital de Clínicas). These studies were performed on 218 unrelated people,who donated blood during the year 2002. Eight erythrocyte genetic systems and GM/KM allotypes were analysed.A survey to obtain information about place of birth, present residence and genealogical data of the donors wasperformed. The gene frequencies were determined using a method of maximum likelihood. The genetic admixturewas calculated through the ADMIX program (trihibride). The Amerindian and African contributions were 15.8%and 4.3% respectively. These data were compared with those obtained in a previous study performed in a privatecentre (Hospital Italiano de Buenos Aires) and significant differences were observed, except in the KM system.The results obtained are in concordance with the demographic and historic information of Buenos Aires City. (AU)

African ancestry of the population of Buenos Aires.

The population of Argentina today does not have a "visible" black African component. However, censuses conducted during most of the 19th century registered up to 30% of individuals of African origin living in Buenos Aires city. What has happened to this African influence? Have all individuals of African origin died, as lay people believe? Or is it possible that admixture with the European immigrants made the African influence "invisible?" We investigated the African contribution to the genetic pool of the population of Buenos Aires, Argentina, typing 12 unlinked autosomal DNA markers in a sample of 90 individuals. The results of this analysis suggest that 2.2% (SEM=0.9%) of the genetic ancestry of the Buenos Aires population is derived from Africa. Our analysis of individual admixture shows that those alleles that have a high frequency in populations of African origin tend to concentrate among 8 individuals in our sample. Therefore, although the admixture estimate is relatively low, the actual proportion of individuals with at least some African influence is approximately 10%. The evidence we are presenting of African ancestry is consistent with the known historical events that led to the drastic reduction of the Afro-Argentine population during the second half of the 19th century. However, as our results suggest, this reduction did not mean a total disappearance of African genes from the genetic pool of the Buenos Aires population.

Genetic variability in Amerindian populations of Northern Argentina

The allelic variability of four dinucleotide microsatellites located in the HLA region (MOGc, D6S265, MIB, and TNFa) was analyzed in 67 individuals representing three Amerindian populations of the Argentine Gran Chaco: Toba, Wichi and Chorote. Genomic DNA was prepared from peripheral blood and DNA was extracted using the standard phenol-chloroform procedure. Alleles were identified by PCR, using an end-labelled reverse oligonucleotide primer (fluorescent 6 - Fam labeling). Despite the low number of samples studied, a high level of gene diversity was observed in each population and for each locus. Moreover, the mean number of alleles was 7.7, 5.3, 10.0, and 7.0 at loci MOGc, D6S265, MIB and TNFa, respectively. Differentiation tests between pairs of populations showed a clear differentiation between the Wichi and the other two groups. However, the proportion of the total genetic variability that is due to differences among populations, estimated by the Gst' index, was relatively low (6 percent). Almost all the genetic variation occurred at the intra-population level (96 percent). The high intra-populational genetic variation suggests the existence of an intensive gene flow among the Gran Chaco tribes. Historical information seems to confirm this result.

Beta-globin gene cluster haplotypes in the Mapuche Indians of Argentina

Haplótipos derivados de cinco sítios de restriçäo polimórficos presentes no agrupamento da globina beta foram investigados em 86 cromossomos da populaçäo Mapuche da Argentina. Esses resultados foram analisados em conjunto com os previamente obtidos para dez tribos indígenas brasileiras. Oito haplótipos foram identificados, dos quais os mais freqüêntes foram o 2 (57 por cento) e o 6 (27 por cento). A presença do haplótipo 3 em 2 por cento dos cromossomos dos Mapuches é uma evidência de mistura com indivíduos de ancestralidade africana. Devido ao alto número de haplótipos, a heterozigosidade medida pelo índice Gini-Simpson é mais alta nos Mapuches do que nos índios brasileiros. A distribuçäo haplotípica nos Mapuches é também significativamente diferente da observada nas tribos brasileiras. Essa heterogeneidade poderia ser parcialmente explicada pela mistura com populaçöes näo-indígenas.