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An INDEL polymorphism at the X-STR GATA172D05 flanking region

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Abstract

A new polymorphic INDEL was detected at the X-STR GATA172D05 flanking region, which corresponds to an 18-bp deletion, 141 bp upstream the TAGA repeat motif. This INDEL was found to be polymorphic in different population samples from Native Americans, Africans, and Europeans as well as in an admixed population from the Amazonia (Belém). Gene diversities varied between 37.5% in Native Americans and 49.9% in Africans. Comparison between human and chimpanzee sequences showed that the ancestral state corresponds to the presence of two copies of 18 bp, detected in both species; and the mutated allele has lost one of these two copies. The simultaneous analysis of the short tandem repeat (STR) and INDEL variation showed an association between the INDEL ancestral allele with the shorter STR alleles. High diversities were found in all population groups when combining the information provided by the INDEL and STR variation. Gene diversities varied between 76.7% in Native Americans and 80.6% in both Portugal and Belém.

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Acknowledgements

This work was partially supported by Fundação para a Ciência e a Tecnologia (grant SFRH/BD/21647/2005 and POCI 2010, VI Programa-Quadro 2002–2006), Financiadora de Estudos e Projetos (FINEP), Milénio/CNPq (Conselho Nacional de Desenvolvimento Cientifico e Tecnológico), and UFPA.

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Authors and Affiliations

  1. Laboratório de Genética Humana e Médica, Departamento de Patologia, Universidade Federal do Pará, Belém, PA, Brazil

    Elzemar Martins Ribeiro Rodrigues, Ândrea Kely Campos Ribeiro dos Santos, Anderson Nonato Marinho & Sidney Emanuel Batista dos Santos

  2. Faculdade de Ciencias Biologicas, Campus Universitario de Altamira, Universidade Federal do Pará, Altamira, PA, Brazil

    Ney Pereira Carneiro dos Santos

  3. Departamento de Clínica Médica, Departamento de Genética, Faculdade de Medicina, Universidade de São Paulo, Ribeirão Preto, SP, Brazil

    Marco Antonio Zago

  4. IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, 4200-465, Porto, Portugal

    Iva Gomes, António Amorim & Leonor Gusmão

  5. Institute of Legal Medicine, University of Santiago de Compostela, 15782, Santiago de Compostela, Spain

    Iva Gomes

  6. Faculty of Sciences, University of Porto, 4050, Porto, Portugal

    António Amorim

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

    Sidney Emanuel Batista dos Santos

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  1. Elzemar Martins Ribeiro Rodrigues
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  9. Sidney Emanuel Batista dos Santos
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Correspondence to Sidney Emanuel Batista dos Santos.

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Rodrigues, E.M.R., dos Santos, N.P.C., dos Santos, Â.K.C.R. et al. An INDEL polymorphism at the X-STR GATA172D05 flanking region. Int J Legal Med 123, 89–94 (2009). https://doi.org/10.1007/s00414-008-0300-0

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  • DOI: https://doi.org/10.1007/s00414-008-0300-0

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