Molecular characterization of ABO*O alleles at the ABO group locus in three Chilean populations

Background: Among the allelic variants of blood groups, the molecular characterization of ABO blood group has clinical and anthropological importance. Aim: To perform a characterization of the molecular variants of the allele ABO*O of the ABO blood group. Material and methods. Eighty four subjects of Aymara origin, living in Northern Chile, 75 individuals of Huilliche origin, living in Southern Chile and 82 subjects living in Santiago (Central Chile), were studied. All individuals were of group Q homozygotes for G261-deletion, that defines O-1 alleles. Mutations G188A, G261-, G542A, T646A and C771T, described for alleles O-1, O-1variant and G542A were determined by PCR-RFLP (polymerase chain reaction-restriction fragment lengbt polymorphism). Results: Allele O1(variant) has frequencies of 0.65, 0.81 and 0.6 in Aymara, Huilliche and Santiago subjects, respectively. The figures for allele O-1 are 0.35, 0.19 and 0.4, respectively and those for the allele with G542A mutation are 0.119, 0.113 and 0.079, respectively. Conclusions: These results are concordant with the reported higher frequency of allele O-1variant in South American aboriginal populations. The frequencies of G542A allele in these Chilean individuals are lower than those described for Amazon aborigines