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Extensive survey of 12 X-STRs reveals genetic heterogeneity among Brazilian populations

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Abstract

The admixed Brazilian population shows high levels of genetic variability, which resulted from the contribution of three main ethnicities, Amerindian, European, and African. However, due to its huge territory, admixing has been asymmetrical, i.e., the relative contribution from each ethnicity has been unequal in the five geopolitical regions of the country. The aim of this study was to describe genetic variability using a panel of short-tandem repeats on the X chromosome (X-STR) in order to perform a comprehensive evaluation of the usefulness of such markers for forensic purposes in Brazil. Twelve X-STR (DXS9895, DXS7132, DXS6800, DXS9898, DXS6789, DXS7133, GATA172D05, DXS7130, HPRTB, GATA31E08, DXS7423, and DXS10011) were chosen and tested in a sample of 2,234 individuals belonging to 16 out of the 27 Brazilian States, representing all of its five geopolitical regions. No markers showed significant deviation from the Hardy–Weinberg equilibrium, even when analyses were partitioned to represent geopolitical regions. Genetic diversity per locus ranged from 67% (DSX7133) to 95% (DXS10011), and the State of Ceará showed the highest average genetic diversity (79% for all 12 X-STR markers). Considering the Brazilian population as a whole, the power of discrimination of the 12 X-STR panel in females (PDF) was 0.999999999999994, while the power of discrimination in males (PDM) was 0.9999999969. Such high values suggest the potential of that panel to be used in forensic applications and relatedness tests among individuals. Comparisons among the Brazilian populations investigated revealed significant differences when they were compared among each other, a pattern that was maintained when additional populations from Europe and Latin America were compared to Brazilians. Our results highlight the need and usefulness of specific genetic database for forensic purposes in Brazilian populations.

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Acknowledgments

We thank the criminal experts of the Brasil (Mário Sandro de Souza, Pablo Francez, Carlos Belarmino, Elisângela Ponchet, Andéa Sant'ana, Américo Azevedo, Patricia Piza, Rony Castilho, Valéria Rosalina, Ana Cândida, Fábio Leite, Osmar Rudnick, Melisa Tronchini, Izabella Reis, Maryellen Lopes, Edilene Andrade and Igor Hamoy) who contributed to the development this work. This study was supported by the Brazilian agencies Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and Financiadora de Estudos e Projetos (FINEP) and UFPA (Universidade Federal do Pará).

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Authors and Affiliations

  1. Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Cidade Universitária Prof. José da Silva Netto, Av. Augusto Corrêa, 01, Belém, PA, Brazil

    Elzemar Martins Ribeiro-Rodrigues, Teresinha de Jesus Brabo Ferreira Palha, Ândrea Ribeiro-dos-Santos & Sidney Santos

  2. Centro de Pericias Científicas Renato Chaves, Instituto de Criminalística, Belém, PA, Brazil

    Elzemar Martins Ribeiro-Rodrigues & Teresinha de Jesus Brabo Ferreira Palha

  3. Laboratório de DNA—Núcleo de Biologia e Bioquímica, Instituto de Criminalística de São Paulo, São Paulo, SP, Brazil

    Eloisa Auler Bittencourt

Authors
  1. Elzemar Martins Ribeiro-Rodrigues
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  2. Teresinha de Jesus Brabo Ferreira Palha
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  3. Eloisa Auler Bittencourt
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  4. Ândrea Ribeiro-dos-Santos
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  5. Sidney Santos
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Corresponding author

Correspondence to Sidney Santos.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary Table 1

Allelic frequencies for a panel of 12 X-STR in 16 States of Brazil (DOC 553 kb)

Supplementary Table 2

List of male haplotypes-like allelic combinations in all populations investigated (DOC 1594 kb)

Supplementary Table 3

p values for pairwise linkage disequilibrium test for all pair of loci in the 16 States of Brazil. (DOC 180 kb)

Supplementary Table 4

Pairwise genetic distances (below the diagonal) and the corresponding non-differentiation p value (above the diagonal) among Brazilian population samples. (DOC 58 kb)

Supplementary Table 5

Genetic distances (F ST) among all possible pairs of populations, using only one marker for each comparison. (DOC 206 kb)

Supplementary Table 6

Pairwise genetic distances (above the diagonal) and the corresponding non-differentiation p value (below the diagonal) among Brazilian regions. (DOC 32 kb)

Supplementary Table 7

Pairwise genetic distances (below diagonal) and the corresponding non-differentiation p value (above the diagonal) among Brazilian populations, Latin America, Europe, Africa, and Native American populations. (DOC 205 kb)

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Ribeiro-Rodrigues, E.M., Palha, T.J.B.F., Bittencourt, E.A. et al. Extensive survey of 12 X-STRs reveals genetic heterogeneity among Brazilian populations. Int J Legal Med 125, 445–452 (2011). https://doi.org/10.1007/s00414-011-0561-x

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  • DOI: https://doi.org/10.1007/s00414-011-0561-x

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