Blood group O alleles in Native Americans: Implications in the peopling of the Americas

Authors

  • Benito Estrada-Mena,

    1. Departamento de Biología Molecular y Biotecnología, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México (UNAM), Mexico City, México
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  • F. Javier Estrada,

    1. Escuela de Medicina, Universidad Panamericana (UP), Mexico City, México
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  • Raúl Ulloa-Arvizu,

    1. Departamento de Genética y Bioestadística, Facultad de Medicina Veterinaria y Zootecnia (FMVZ), UNAM, Mexico City, México
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  • Miriam Guido,

    1. Departamento de Biología Molecular y Biotecnología, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México (UNAM), Mexico City, México
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  • Rocío Méndez,

    1. Unidad de Investigación Biomédica en Cáncer, División de Investigación Básica, Instituto Nacional de Cancerología, (INCan), SSa, Mexico City, México
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  • Ramón Coral,

    1. Laboratorio Multidisciplinario, Escuela Superior de Medicina, Instituto Politécnico Nacional (IPN) y Centro Médico Nacional 20 de Noviembre, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Mexico City, México
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  • Thelma Canto,

    1. Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán (UAY), Mérida, Yucatán, México
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  • Julio Granados,

    1. Escuela de Medicina, Universidad Panamericana (UP), Mexico City, México
    2. Departamento de Inmunología, Instituto Nacional de Ciencias Médicas Salvador Zubirán (INCMSZ), Secretaría de Salud (SSa), Mexico City, México
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  • Rodrigo Rubí-Castellanos,

    1. Instituto de Investigación en Genética Molecular, Centro Universitario de la Ciénega-Universidad de Guadalajara (CUCI-UdeG), Ocotlán, Jalisco, México
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  • Héctor Rangel-Villalobos,

    1. Instituto de Investigación en Genética Molecular, Centro Universitario de la Ciénega-Universidad de Guadalajara (CUCI-UdeG), Ocotlán, Jalisco, México
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  • Alejandro García-Carrancá

    Corresponding author
    1. Departamento de Biología Molecular y Biotecnología, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México (UNAM), Mexico City, México
    2. Unidad de Investigación Biomédica en Cáncer, División de Investigación Básica, Instituto Nacional de Cancerología, (INCan), SSa, Mexico City, México
    • Unidad de Investigación Biomédica en Cáncer, Instituto Nacional de Cancerología, Av. San Fernando No. 22, Col. Sección XVI, Tlalpan, 14080 México, D.F., México
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Abstract

All major ABO blood alleles are found in most populations worldwide, whereas the majority of Native Americans are nearly exclusively in the O group. O allele molecular characterization could aid in elucidating the possible causes of group O predominance in Native American populations. In this work, we studied exon 6 and 7 sequence diversity in 180 O blood group individuals from four different Mesoamerican populations. Additionally, a comparative analysis of genetic diversity and population structure including South American populations was performed. Results revealed no significant differences among Mesoamerican and South American groups, but showed significant differences within population groups attributable to previously detected differences in genetic drift and founder effects throughout the American continent. Interestingly, in all American populations, the same set of haplotypes O1, O1v, and O1v(G542A) was present, suggesting the following: (1) that they constitute the main genetic pool of the founding population of the Americas and (2) that they derive from the same ancestral source, partially supporting the single founding population hypothesis. In addition, the consistent and restricted presence of the G542A mutation in Native Americans compared to worldwide populations allows it to be employed as an Ancestry informative marker (AIM). Present knowledge of the peopling of the Americas allows the prediction of the way in which the G542A mutation could have emerged in Beringia, probably during the differentiation process of Asian lineages that gave rise to the founding population of the continent. Am J Phys Anthropol, 2010. © 2009 Wiley-Liss, Inc.

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