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REVISITING THE GENETIC ANCESTRY OF BRAZILIANS USING AUTOSOMAL AIM-INDELS
Brasil
Ancestry Informative Markers (AIMs)
Population
Ethnic heterogeneity
Author
Affilliation
Universidade do Estado do Rio de Janeiro. Laboratório de Diagnóstica DNA. Rio de Janeiro, RJ, Brasil.
University of Porto (IPATIMUP). Institute of Molecular Pathology and Immunology. Porto, Portugal.
Universidade do Estado do Rio de Janeiro. Laboratório de Diagnóstica DNA. Rio de Janeiro, RJ, Brasil.
Universidade de Pernambuco. Laboratório de Identificação Humana. Recife, PE, Brasil.
Universidade Federal de Alagoas. Instituto de Ciências Biológicas e da Saúde. AL, Brasil.
Universidade do Estado do Rio de Janeiro. Laboratório de Diagnóstica DNA. Rio de Janeiro, RJ, Brasil.
Universidade Federal do Espírito Santo. Centro de Ciências Humanas e Naturais. Departamento de Ciências Biológicas. Núcleo de Genética Humana e Molecular. Vitória, ES, Brasil.
Universidade Federal do Amazonas. Centro de Apoio Multidisciplinar. Laboratório de Diagnóstico Molecular. AM, Brasil.
Universidade Federal do Mato Grosso do Sul. Faculdade de Ciências Médicas. Departamento de Medicina Interna. Campo Grande, MS, Brasil.
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Hanseníase. Rio de Janeiro, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Laboratório de Diagnóstica DNA. Rio de Janeiro, RJ, Brasil / University of Porto (IPATIMUP). Institute of Molecular Pathology and Immunology. Porto, Portugal.
University of Porto (IPATIMUP). Institute of Molecular Pathology and Immunology. Porto, Portugal.
Universidade do Estado do Rio de Janeiro. Laboratório de Diagnóstica DNA. Rio de Janeiro, RJ, Brasil.
Universidade de Pernambuco. Laboratório de Identificação Humana. Recife, PE, Brasil.
Universidade Federal de Alagoas. Instituto de Ciências Biológicas e da Saúde. AL, Brasil.
Universidade do Estado do Rio de Janeiro. Laboratório de Diagnóstica DNA. Rio de Janeiro, RJ, Brasil.
Universidade Federal do Espírito Santo. Centro de Ciências Humanas e Naturais. Departamento de Ciências Biológicas. Núcleo de Genética Humana e Molecular. Vitória, ES, Brasil.
Universidade Federal do Amazonas. Centro de Apoio Multidisciplinar. Laboratório de Diagnóstico Molecular. AM, Brasil.
Universidade Federal do Mato Grosso do Sul. Faculdade de Ciências Médicas. Departamento de Medicina Interna. Campo Grande, MS, Brasil.
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Hanseníase. Rio de Janeiro, RJ, Brasil.
Universidade do Estado do Rio de Janeiro. Laboratório de Diagnóstica DNA. Rio de Janeiro, RJ, Brasil / University of Porto (IPATIMUP). Institute of Molecular Pathology and Immunology. Porto, Portugal.
Abstract
There are many different studies that contribute to the global picture of the ethnic heterogeneity in Brazilian
populations. These studies use different types of genetic markers and are focused on the comparison of populations
at different levels. In some of them, each geographical region is treated as a single homogeneous population,
whereas other studies create different subdivisions: political (e.g., pooling populations by State), demographic (e.g.,
urban and rural), or ethnic (e.g., culture, self-declaration, or skin colour). In this study, we performed an enhanced
reassessment of the genetic ancestry of ~ 1,300 Brazilians characterised for 46 autosomal Ancestry Informative
Markers (AIMs). In addition, 798 individuals from twelve Brazilian populations representing the five geographical
macro-regions of Brazil were newly genotyped, including a Native American community and a rural Amazonian
community. Following an increasing North to South gradient, European ancestry was the most prevalent in all urban
populations (with values up to 74%). The populations in the North consisted of a significant proportion of Native
American ancestry that was about two times higher than the African contribution. Conversely, in the Northeast,
Center-West and Southeast, African ancestry was the second most prevalent. At an intrapopulation level, all urban
populations were highly admixed, and most of the variation in ancestry proportions was observed between individuals
within each population rather than among population. Nevertheless, individuals with a high proportion of Native
American ancestry are only found in the samples from Terena and Santa Isabel. Our results allowed us to further
refine the genetic landscape of Brazilians while establishing the basis for the effective application of an autosomal
AIM panel in forensic casework and clinical association studies within the highly admixed Brazilian populations.
Keywords
Genetic AncestryBrasil
Ancestry Informative Markers (AIMs)
Population
Ethnic heterogeneity
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