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1.
Nature ; 583(7817): 572-577, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32641827

RESUMEN

The possibility of voyaging contact between prehistoric Polynesian and Native American populations has long intrigued researchers. Proponents have pointed to the existence of New World crops, such as the sweet potato and bottle gourd, in the Polynesian archaeological record, but nowhere else outside the pre-Columbian Americas1-6, while critics have argued that these botanical dispersals need not have been human mediated7. The Norwegian explorer Thor Heyerdahl controversially suggested that prehistoric South American populations had an important role in the settlement of east Polynesia and particularly of Easter Island (Rapa Nui)2. Several limited molecular genetic studies have reached opposing conclusions, and the possibility continues to be as hotly contested today as it was when first suggested8-12. Here we analyse genome-wide variation in individuals from islands across Polynesia for signs of Native American admixture, analysing 807 individuals from 17 island populations and 15 Pacific coast Native American groups. We find conclusive evidence for prehistoric contact of Polynesian individuals with Native American individuals (around AD 1200) contemporaneous with the settlement of remote Oceania13-15. Our analyses suggest strongly that a single contact event occurred in eastern Polynesia, before the settlement of Rapa Nui, between Polynesian individuals and a Native American group most closely related to the indigenous inhabitants of present-day Colombia.


Asunto(s)
Flujo Génico/genética , Genoma Humano/genética , Migración Humana/historia , Indígenas Centroamericanos/genética , Indígenas Sudamericanos/genética , Islas , Nativos de Hawái y Otras Islas del Pacífico/genética , América Central/etnología , Colombia/etnología , Europa (Continente)/etnología , Genética de Población , Historia Medieval , Humanos , Polimorfismo de Nucleótido Simple/genética , Polinesia , América del Sur/etnología , Factores de Tiempo
2.
Proc Natl Acad Sci U S A ; 115(17): E4006-E4012, 2018 04 24.
Artículo en Inglés | MEDLINE | ID: mdl-29632188

RESUMEN

Patagonia was the last region of the Americas reached by humans who entered the continent from Siberia ∼15,000-20,000 y ago. Despite recent genomic approaches to reconstruct the continental evolutionary history, regional characterization of ancient and modern genomes remains understudied. Exploring the genomic diversity within Patagonia is not just a valuable strategy to gain a better understanding of the history and diversification of human populations in the southernmost tip of the Americas, but it would also improve the representation of Native American diversity in global databases of human variation. Here, we present genome data from four modern populations from Central Southern Chile and Patagonia (n = 61) and four ancient maritime individuals from Patagonia (∼1,000 y old). Both the modern and ancient individuals studied in this work have a greater genetic affinity with other modern Native Americans than to any non-American population, showing within South America a clear structure between major geographical regions. Native Patagonian Kawéskar and Yámana showed the highest genetic affinity with the ancient individuals, indicating genetic continuity in the region during the past 1,000 y before present, together with an important agreement between the ethnic affiliation and historical distribution of both groups. Lastly, the ancient maritime individuals were genetically equidistant to a ∼200-y-old terrestrial hunter-gatherer from Tierra del Fuego, which supports a model with an initial separation of a common ancestral group to both maritime populations from a terrestrial population, with a later diversification of the maritime groups.


Asunto(s)
Variación Genética , Genoma Humano , Indígenas Sudamericanos/genética , Chile , Femenino , Historia Antigua , Humanos , Indígenas Sudamericanos/historia , Masculino
3.
Biol Res ; 53(1): 15, 2020 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-32299502

RESUMEN

BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.


Asunto(s)
Etnicidad/genética , Genética de Población/organización & administración , Indígenas Sudamericanos/genética , Polimorfismo de Nucleótido Simple/genética , Grupos de Población/genética , Chile , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Genotipo , Técnicas de Genotipaje , Humanos , Masculino , Filogeografía , Saliva
4.
Am J Phys Anthropol ; 163(1): 192-199, 2017 05.
Artículo en Inglés | MEDLINE | ID: mdl-28206677

RESUMEN

OBJECTIVES: Quebrada Camarones, in the Atacama Desert, has the highest arsenic levels in the Americas (>1,000 µg/L). However, the Camarones people have subsisted in this adverse environment during the last 7,000 years and have not presented any epidemiological emergencies. Therefore, to solve this conundrum we compared the frequencies of four protective genetic variants of the AS3MT gene associated with efficient arsenic metabolization, between the living populations of Camarones and two other populations historically exposed to lower levels of arsenic. MATERIALS AND METHODS: The Chilean selected population samples come from Quebrada Camarones (n = 50) and the Azapa Valley (n = 47) in the north and San Juan de la Costa (n = 45) in southern Chile. The genotyping was conducted using PCR-RFLP. We compared the genotypic and allelic frequencies, and estimated the haplotype frequencies in the AS3MT gene. RESULTS: We found higher frequencies of the protective variants in those people from Camarones than in the other two populations. The haplotype estimation showed that the combination of protective variants of CTTA is very frequent in Camarones (68%) and Azapa (48%), but extremely low in San Juan de la Costa (8%). Also, the C variant associated with toxicity risks in the SNP Met287Thr had a lower frequency in Camarones (1%) and is higher in the other populations. DISCUSSION: The higher frequency of protective variants in both northern Chilean populations indicates a long exposure to naturally arsenic-contaminated water sources. Our data suggest that a high arsenic metabolization capacity has been selected as an adaptive mechanism in these populations in order to survive in an arsenic-laden environment.


Asunto(s)
Adaptación Biológica/genética , Arsénico , Frecuencia de los Genes/genética , Haplotipos/genética , Indígenas Sudamericanos/genética , Adulto , Antropología Física , Chile , Estudios Transversales , Femenino , Humanos , Indígenas Sudamericanos/etnología , Masculino , Metiltransferasas/genética , Persona de Mediana Edad , Selección Genética/genética
5.
Rev Med Chil ; 143(4): 439-43, 2015 Apr.
Artículo en Español | MEDLINE | ID: mdl-26204534

RESUMEN

BACKGROUND: Amerindian admixture is an important parameter to consider in epidemiological studies in American countries, to make a proper selection of cases and controls. AIM: To compare Amerindian admixture estimates obtained using ABO*A and ABO*O blood group alleles and ancestral identity markers (AIMs) in the mixed Chilean population. SUBJECTS AND METHODS: Amerindian admixture rates were determined in 720 Chilean volunteers residing in Arica and born in the 15 regions of the country, using ABO*O and ABO*A alleles and 40 AIMs selected from more than 500,000 single nucleotide polymorphisms (SNPs). RESULTS: Mean admixture estimates obtained using ABO*O and ABO*A alleles and AIMs were 35, 47% and 48% respectively. There was concordance in estimates, with the exception of the admixture based on ABO*O allele and AIMs. CONCLUSIONS: In Chile, Amerindian admixture estimates obtained using ABO*A could be used as an alternative to AIMs in justified cases provided the sample size is reasonably large.


Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Indígenas Sudamericanos/genética , Población Blanca/genética , Chile/etnología , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Genética de Población , Humanos , Masculino , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Reproducibilidad de los Resultados
6.
PLoS Pathog ; 6(2): e1000779, 2010 Feb 19.
Artículo en Inglés | MEDLINE | ID: mdl-20174562

RESUMEN

In man, infection with South American Andes virus (ANDV) causes hantavirus cardiopulmonary syndrome (HCPS). HCPS due to ANDV is endemic in Southern Chile and much of Argentina and increasing numbers of cases are reported all over South America. A case-fatality rate of about 36% together with the absence of successful antiviral therapies urge the development of a vaccine. Although T-cell responses were shown to be critically involved in immunity to hantaviruses in mouse models, no data are available on the magnitude, specificity and longevity of ANDV-specific memory T-cell responses in patients. Using sets of overlapping peptides in IFN-gamma ELISPOT assays, we herein show in 78 Chilean convalescent patients that Gn-derived epitopes were immunodominant as compared to those from the N- and Gc-proteins. Furthermore, while the relative contribution of the N-specific response significantly declined over time, Gn-specific responses remained readily detectable ex vivo up to 13 years after the acute infection. Tetramer analysis further showed that up to 16.8% of all circulating CD3(+)CD8(+) T cells were specific for the single HLA-B*3501-restricted epitope Gn(465-473) years after the acute infection. Remarkably, Gn(465-473)-specific cells readily secreted IFN-gamma, granzyme B and TNF-alpha but not IL-2 upon stimulation and showed a 'revertant' CD45RA(+)CD27(-)CD28(-)CCR7(-)CD127(-) effector memory phenotype, thereby resembling a phenotype seen in other latent virus infections. Most intriguingly, titers of neutralizing antibodies increased over time in 10/17 individuals months to years after the acute infection and independently of whether they were residents of endemic areas or not. Thus, our data suggest intrinsic, latent antigenic stimulation of Gn-specific T-cells. However, it remains a major task for future studies to proof this hypothesis by determination of viral antigen in convalescent patients. Furthermore, it remains to be seen whether Gn-specific T cells are critical for viral control and protective immunity. If so, Gn-derived immunodominant epitopes could be of high value for future ANDV vaccines.


Asunto(s)
Antígenos Virales/inmunología , Linfocitos T CD8-positivos/inmunología , Epítopos de Linfocito T/inmunología , Infecciones por Hantavirus/inmunología , Memoria Inmunológica/inmunología , Anticuerpos Antivirales/sangre , Anticuerpos Antivirales/inmunología , Separación Celular , Chile , Ensayo de Inmunoadsorción Enzimática , Citometría de Flujo , Orthohantavirus/inmunología , Humanos , Epítopos Inmunodominantes/inmunología
7.
PLoS Genet ; 4(3): e1000037, 2008 Mar 21.
Artículo en Inglés | MEDLINE | ID: mdl-18369456

RESUMEN

The large and diverse population of Latin America is potentially a powerful resource for elucidating the genetic basis of complex traits through admixture mapping. However, no genome-wide characterization of admixture across Latin America has yet been attempted. Here, we report an analysis of admixture in thirteen Mestizo populations (i.e. in regions of mainly European and Native settlement) from seven countries in Latin America based on data for 678 autosomal and 29 X-chromosome microsatellites. We found extensive variation in Native American and European ancestry (and generally low levels of African ancestry) among populations and individuals, and evidence that admixture across Latin America has often involved predominantly European men and both Native and African women. An admixture analysis allowing for Native American population subdivision revealed a differentiation of the Native American ancestry amongst Mestizos. This observation is consistent with the genetic structure of pre-Columbian populations and with admixture having involved Natives from the area where the Mestizo examined are located. Our findings agree with available information on the demographic history of Latin America and have a number of implications for the design of association studies in population from the region.


Asunto(s)
Indio Americano o Nativo de Alaska/genética , Población Blanca/genética , Población Negra/genética , Cromosomas Humanos X/genética , Femenino , Variación Genética , Genética de Población , Genoma Humano , Heterocigoto , Humanos , América Latina , Masculino , Repeticiones de Microsatélite
8.
Rev Med Chil ; 139(5): 600-5, 2011 May.
Artículo en Español | MEDLINE | ID: mdl-22051710

RESUMEN

BACKGROUND: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness or inattentiveness. AIM: To search for differences in risk for ADHD and its components among Chilean native and mixed populations and to look forpossible associations with dopamine receptor D4 (DRD4) and dopamine transporter 1 (DAT1) polymorphisms. MATERIAL AND METHODS: School teachers were requested to complete the Conners test, which uses DSM-IV criteria, to screen for ADHD risk among Aymara and Rapa-Nui students. RESULTS: Rapa-Nui children from Easter Island had the highest risk of hyperactivity/impulsiveness. Aymara children from the Arica-Parinacota Region had lower scores. Although inattentiveness scores had lower differences between groups, overall ADHD score differences among studied populations were highly significant. DRD4 and DAT1 alleles had a heterogeneous distribution. Easter islanders had more divergent frequencies, mostprobably as a result of separate migration routes utilized at different timeperiods during the colonization of America and Polynesia. CONCLUSIONS: The comparison of ADHD risk parameters between Rapa-Nui and Aymara children showed marked differences. Allele distri-bution of dopamine polymorphisms in Easter Island was also significantly different from northern Chile, due probably to different colonization histories. These findings suggest that higher ADHD risk scores in Easter Island children may be linked to the presence of different DRD4 alleles.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/genética , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Polimorfismo Genético/genética , Receptores de Dopamina D4/genética , Trastorno por Déficit de Atención con Hiperactividad/etnología , Estudios de Casos y Controles , Niño , Chile/etnología , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Factores de Riesgo
9.
Hum Immunol ; 82(7): 523-531, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33812704

RESUMEN

The Human Leukocyte Antigen (HLA) loci are extremely well documented targets of balancing selection, yet few studies have explored how selection affects population differentiation at these loci. In the present study we investigate genetic differentiation at HLA genes by comparing differentiation at microsatellites distributed genomewide to those in the MHC region. Our study uses a sample of 494 individuals from 30 human populations, 28 of which are Native Americans, all of whom were typed for genomewide and MHC region microsatellites. We find greater differentiation in the MHC than in the remainder of the genome (FST-MHC = 0.130 and FST-Genomic = 0.087), and use a permutation approach to show that this difference is statistically significant, and not accounted for by confounding factors. This finding lies in the opposite direction to the expectation that balancing selection reduces population differentiation. We interpret our findings as evidence that selection favors different sets of alleles in distinct localities, leading to increased differentiation. Thus, balancing selection at HLA genes simultaneously increases intra-population polymorphism and inter-population differentiation in Native Americans.


Asunto(s)
Indio Americano o Nativo de Alaska/genética , Variación Genética , Genética de Población , Antígenos HLA/genética , Selección Genética , Evolución Molecular , Genómica/métodos , Humanos , Repeticiones de Microsatélite , Polimorfismo Genético
10.
Ann Hum Genet ; 74(6): 525-38, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20887376

RESUMEN

We report an integrated analysis of nuclear (autosomal, X- and Y-chromosome) short tandem repeat (STR) data and mtDNA D-loop sequences obtained in the same set of 22 Native populations from across the Americas. A north to south gradient of decreasing population diversity was observed, in agreement with a settlement of the Americas from the extreme northwest of the continent. This correlation is stronger with "least cost distances," which consider the coasts as facilitators of migration. Continent-wide estimates of population structure are highest for the Y-chromosome and lowest for the autosomes, consistent with the effective size of the different marker systems examined. Population differentiation is highest in East South America and lowest in Meso America and the Andean region. Regional analyses suggest a deviation from mutation-drift equilibrium consistent with population expansion in Meso America and the Andes and population contraction in Northwest and East South America. These data hint at an early divergence of Andean and non-Andean South Americans and at a contrasting demographic history for populations from these regions.


Asunto(s)
ADN Mitocondrial/genética , Emigración e Inmigración , Indígenas Norteamericanos/genética , Indígenas Sudamericanos/genética , Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Femenino , Humanos , Masculino , Repeticiones de Microsatélite , Análisis de Secuencia de ADN/métodos
11.
PLoS Genet ; 3(11): e185, 2007 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-18039031

RESUMEN

We examined genetic diversity and population structure in the American landmass using 678 autosomal microsatellite markers genotyped in 422 individuals representing 24 Native American populations sampled from North, Central, and South America. These data were analyzed jointly with similar data available in 54 other indigenous populations worldwide, including an additional five Native American groups. The Native American populations have lower genetic diversity and greater differentiation than populations from other continental regions. We observe gradients both of decreasing genetic diversity as a function of geographic distance from the Bering Strait and of decreasing genetic similarity to Siberians--signals of the southward dispersal of human populations from the northwestern tip of the Americas. We also observe evidence of: (1) a higher level of diversity and lower level of population structure in western South America compared to eastern South America, (2) a relative lack of differentiation between Mesoamerican and Andean populations, (3) a scenario in which coastal routes were easier for migrating peoples to traverse in comparison with inland routes, and (4) a partial agreement on a local scale between genetic similarity and the linguistic classification of populations. These findings offer new insights into the process of population dispersal and differentiation during the peopling of the Americas.


Asunto(s)
Variación Genética/genética , Indígenas Norteamericanos/genética , Dinámica Poblacional , Alelos , Cromosomas Humanos/genética , Bases de Datos Genéticas , Emigración e Inmigración , Frecuencia de los Genes , Geografía , Heterocigoto , Humanos , Lenguaje , Lingüística , Filogenia
12.
PLoS One ; 15(11): e0241282, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33147239

RESUMEN

The American continent was the last to be occupied by modern humans, and native populations bear the marks of recent expansions, bottlenecks, natural selection, and population substructure. Here we investigate how this demographic history has shaped genetic variation at the strongly selected HLA loci. In order to disentangle the relative contributions of selection and demography process, we assembled a dataset with genome-wide microsatellites and HLA-A, -B, -C, and -DRB1 typing data for a set of 424 Native American individuals. We find that demographic history explains a sizeable fraction of HLA variation, both within and among populations. A striking feature of HLA variation in the Americas is the existence of alleles which are present in the continent but either absent or very rare elsewhere in the world. We show that this feature is consistent with demographic history (i.e., the combination of changes in population size associated with bottlenecks and subsequent population expansions). However, signatures of selection at HLA loci are still visible, with significant evidence selection at deeper timescales for most loci and populations, as well as population differentiation at HLA loci exceeding that seen at neutral markers.


Asunto(s)
Indio Americano o Nativo de Alaska/genética , Demografía , Sitios Genéticos , Antígenos HLA/genética , Selección Genética , Alelos , Variación Genética , Geografía , Haplotipos/genética , Heterocigoto , Homocigoto , Humanos , Repeticiones de Microsatélite/genética , América del Norte , Tamaño de la Muestra , América del Sur
13.
Nat Commun ; 9(1): 5388, 2018 12 19.
Artículo en Inglés | MEDLINE | ID: mdl-30568240

RESUMEN

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.


Asunto(s)
Migración Humana , Indígenas Norteamericanos/genética , Indígenas Sudamericanos/genética , Haplotipos , Humanos , México , Nariz/anatomía & histología , América del Sur
14.
Twin Res Hum Genet ; 9(6): 743-6, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17254401

RESUMEN

We describe subject recruitment from the University of Chile School-Age Children Twin Registry (REMEUCHI). The research aim of REMEUCHI is to quantify the impact of genetic and environmental factors on scholastic achievement in a multicausal approach. The Ministry of Education of Chile, in collaboration with the Registry Office, provided the list of possible twin pairs graduated from high school in 2004 in Chile's metropolitan region. From a population of 70,065 school-age children who had graduated from high school, 434 possible twin pairs were analyzed. Of these, 327 were twins reared together (75.3% of the 434 possible twins pairs) and born between 1986 and 1987 in Chile (mean age 18 years), and approximately 8% were not twins despite matches on full name and birth data. The rest of the possible twin pairs were probably twins reared apart, since one member of the pair had moved to study in another region of Chile. Zygosity was determined through questionnaires, maternal reports of twin similarities, and by the hospital records of the twins at the time of birth. Three hundred and twenty-seven pairs were identified, where monozygotic (MZ) and dizygotic (DZ) twins represented 46.8% and 53.2% of pairs, respectively, with a DZ/MZ ratio of 1.14. Considering same-sex MZ pairs, the percentage of female pairs was greater (55.6%) than male pairs (44.4%). When DZ pairs were analyzed, 47.7% were of opposite sex, 20.1% were male pairs and 32.2% female pairs. In Chile, these findings represent a baseline study to contribute to the establishment of a national twin registry in the future.


Asunto(s)
Sistema de Registros , Estudios en Gemelos como Asunto , Adolescente , Chile , Femenino , Humanos , Recién Nacido , Masculino , Selección de Paciente , Embarazo , Sistema de Registros/estadística & datos numéricos , Estudios en Gemelos como Asunto/estadística & datos numéricos , Gemelos Dicigóticos , Gemelos Monocigóticos
15.
Biol. Res ; 53: 15, 2020. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1100921

RESUMEN

BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.


Asunto(s)
Humanos , Masculino , Femenino , Etnicidad/genética , Indígenas Sudamericanos/genética , Polimorfismo de Nucleótido Simple/genética , Grupos de Población/genética , Genética de Población/organización & administración , Saliva , Marcadores Genéticos/genética , Chile , Filogeografía , Técnicas de Genotipaje , Frecuencia de los Genes/genética , Genotipo
16.
PLoS One ; 7(9): e43486, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22970129

RESUMEN

After several years of research, there is now a consensus that America was populated from Asia through Beringia, probably at the end of the Pleistocene. But many details such as the timing, route(s), and origin of the first settlers remain uncertain. In the last decade genetic evidence has taken on a major role in elucidating the peopling of the Americas. To study the early peopling of South America, we sequenced the control region of mitochondrial DNA from 300 individuals belonging to indigenous populations of Chile and Argentina, and also obtained seven complete mitochondrial DNA sequences. We identified two novel mtDNA monophyletic clades, preliminarily designated B2l and C1b13, which together with the recently described D1g sub-haplogroup have locally high frequencies and are basically restricted to populations from the extreme south of South America. The estimated ages of D1g and B2l, about ~15,000 years BP, together with their similar population dynamics and the high haplotype diversity shown by the networks, suggests that they probably appeared soon after the arrival of the first settlers and agrees with the dating of the earliest archaeological sites in South America (Monte Verde, Chile, 14,500 BP). One further sub-haplogroup, D4h3a5, appears to be restricted to Fuegian-Patagonian populations and reinforces our hypothesis of the continuity of the current Patagonian populations with the initial founders. Our results indicate that the extant native populations inhabiting South Chile and Argentina are a group which had a common origin, and suggest a population break between the extreme south of South America and the more northern part of the continent. Thus the early colonization process was not just an expansion from north to south, but also included movements across the Andes.


Asunto(s)
ADN Mitocondrial/genética , Emigración e Inmigración , Genética de Población , Haplotipos/genética , Modelos Biológicos , Secuencia de Bases , Teorema de Bayes , Etnicidad/genética , Variación Genética , Humanos , Mitocondrias/genética , Datos de Secuencia Molecular , Tasa de Mutación , Conformación de Ácido Nucleico , Filogenia , América del Sur , Factores de Tiempo
17.
Rev. méd. Chile ; 143(4): 439-443, abr. 2015. tab
Artículo en Español | LILACS | ID: lil-747549

RESUMEN

Background: Amerindian admixture is an important parameter to consider in epidemiological studies in American countries, to make a proper selection of cases and controls. Aim: To compare Amerindian admixture estimates obtained using ABO*A and ABO*O blood group alleles and ancestral identity markers (AIMs) in the mixed Chilean population. Subjects and Methods: Amerindian admixture rates were determined in 720 Chilean volunteers residing in Arica and born in the 15 regions of the country, using ABO*O and ABO*A alleles and 40 AIMs selected from more than 500,000 single nucleotide polymorphisms (SNP´s). Results: Mean admixture estimates obtained using ABO*O and ABO*A alleles and AIM s were 35, 47% and 48% respectively. There was concordance in estimates, with the exception of the admixture based on ABO*O allele and AIMs. Conclusions: In Chile, Amerindian admixture estimates obtained using ABO*A could be used as an alternative to AIMs in justified cases provided the sample size is reasonably large.


Asunto(s)
Femenino , Humanos , Masculino , Sistema del Grupo Sanguíneo ABO/genética , Población Blanca/genética , Indígenas Sudamericanos/genética , Chile/etnología , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Genética de Población , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Reproducibilidad de los Resultados
18.
Am J Phys Anthropol ; 131(4): 535-8, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16685725

RESUMEN

A molecular characterization of alleles O1, O1variant (O1v), and the mutation G542A of the ABO blood group was performed in two Amerindian populations of Chile, the Aymara (n = 84) and the Huilliche (n = 75). In addition, a sample of 82 individuals of Santiago belonging to the mixed Chilean population was typed for comparative purposes. The polymorphisms which allow for molecular differentiation of different alleles of the O blood group were studied in genomic DNA. The mutations G188, G261-, G542A, T646A, and C771T, described for alleles O1, O1v, and G542A, were determined using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) technique. All individuals studied were group O homozygotes for the deletion G261-, which defines the O1 alleles. Results obtained indicate that allele O1v exhibits frequencies of 0.65, 0.81, and 0.60 in Aymara, Huilliche, and Santiago populations, respectively. The frequencies of allele O1(G542A) were 0.119, 0.113, and 0.079 in the same populations. Frequencies for alleles O1 and O1v obtained in the Chilean populations studied concur with the results obtained by other authors, respecting the greater frequency of allele O1v as well as with its heterogeneous distribution in aboriginal South American populations. In Chilean populations, Allele G542A exhibits lower frequencies than those described for indigenous populations from Brazil and may be used as an Amerind admixture marker.


Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Eliminación de Gen , Frecuencia de los Genes , Indígenas Sudamericanos/genética , Polimorfismo de Longitud del Fragmento de Restricción , Alelos , Chile , Femenino , Heterogeneidad Genética , Humanos , Masculino , Mutación , Reacción en Cadena de la Polimerasa
19.
Am J Phys Anthropol ; 129(3): 473-81, 2006 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16323203

RESUMEN

The genetic variability of four predominantly Indian populations of southern Chile's archipelagos was examined by determining the frequencies of four mitochondrial DNA haplogroups that characterize the American Indian populations. Over 90% of the individuals analyzed presented Native American mtDNA haplogroups. By means of an unweighted group pair method with arithmetic mean (UPGMA) dendrogram, a principal component analysis (PCA) derived from a distance matrix of mtDNA, and the exact test of population differentiation, we are able to prove the existence of a North-South cline. The populations in the northern part of the archipelagos are genetically similar to the Huilliche tribe, while the groups from the South are most closely related to the Fueguino tribe from the extreme South of Chile, and secondarily to the Pehuenche and Mapuche, who are found to the North and East of Chiloé archipelago. These results are consistent with a colonization of the southern archipelagos from Tierra del Fuego. We evaluate the evolutionary relationships of the population of the Chiloé area to groups from other geographic areas of Chile, using analysis of molecular variance (AMOVA). Three Amerindian clusters are identified: one formed by the Aymará and Atacameño, a second by the Huilliche, and a third including the Mapuche, Pehuenche, and Fueguino tribes, and the population inhabiting the South of the Chiloé arcipelago. These groups exhibit a North-South gradient in the frequency of haplogroup B, confirmed by F(ST) tests.


Asunto(s)
ADN Mitocondrial/genética , Demografía , Evolución Molecular , Variación Genética , Genética de Población , Indígenas Sudamericanos/genética , Chile , Análisis por Conglomerados , Electroforesis en Gel de Agar , Geografía , Haplotipos/genética , Humanos , Análisis de Componente Principal , Mapeo Restrictivo
20.
Rev. méd. Chile ; 139(5): 600-605, mayo 2011. tab
Artículo en Español | LILACS | ID: lil-603096

RESUMEN

Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness or inattentiveness. Aim: To search for differences in risk for ADHD and its components among Chilean native and mixed populations and to look forpossible associations with dopamine receptor D4 (DRD4) and dopamine transporter 1 (DAT1) polymorphisms. Material and Methods: School teachers were requested to complete the Conners test, which uses DSM-IV criteria, to screen for ADHD risk among Aymara and Rapa-Nui students. Results: Rapa-Nui children from Easter Island had the highest risk of hyperactivity/impulsiveness. Aymara children from the Arica-Parinacota Region had lower scores. Although inattentiveness scores had lower differences between groups, overall ADHD score differences among studied populations were highly significant. DRD4 and DAT1 alleles had a heterogeneous distribution. Easter islanders had more divergent frequencies, mostprobably as a result of separate migration routes utilized at different timeperiods during the colonization of America and Polynesia. Conclusions: The comparison of ADHD risk parameters between Rapa-Nui and Aymara children showed marked differences. Allele distri-bution of dopamine polymorphisms in Easter Island was also significantly different from northern Chile, due probably to different colonization histories. These findings suggest that higher ADHD risk scores in Easter Island children may be linked to the presence of different DRD4 alleles.


Asunto(s)
Niño , Femenino , Humanos , Masculino , Trastorno por Déficit de Atención con Hiperactividad/genética , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Polimorfismo Genético/genética , /genética , Trastorno por Déficit de Atención con Hiperactividad/etnología , Estudios de Casos y Controles , Chile/etnología , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Factores de Riesgo
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