Brief communication

Molecular characterization of O alleles at the ABO locus in Chilean Aymara and Huilliche Indians

Bibliographic Data

ID8313775
AuthorsElena Llop (0009-0000-0675-2076, University of Chile), Hugo Henríquez (Diego Portales University), M Moraga (0000-0002-8217-9950, University of Chile), Mario Castro (0000-0002-5174-2405), Francisco Rothhammer (0000-0001-5228-1180, University of Tarapacá, corresponding author)
Year2006
Volume131
Issue4
Pages535-538
Publication date2006-12-01
Open AccessYes
TypeARTICLE
VenueAmerican Journal of Physical Anthropology (JOURNAL)
Journal identifiersISSN: 0002-9483 • E-ISSN: 1096-8644
PublisherWiley (PUBLISHER • GB)
DOI10.1002/ajpa.20462
PMID16685725
OpenAlexW2061702514
LanguageEN
Citations received4
References cited21

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

ABO blood group system · Allele · Allele frequency · Biology · Gene · Locus (genetics) · Polymerase chain reaction · Polymorphism (computer science) · Population · Restriction fragment length polymorphism · Blood groups and transfusion · Demography · Erythrocyte Function and Pathophysiology · Genetics · Hemoglobinopathies and Related Disorders

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