[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.


OBJECTIVE
To perform a characterization of the molecular variants of the allele ABO*O of the ABO blood group.


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 O, homozygotes for G261- deletion, that defines O1 alleles. Mutations G188A, G261-, G542A, T646A and C771T, described for alleles O1, O1variant and G542A were determined by PCR-RFLP (polymerase chain reaction-restriction fragment lenght polymorphism).


RESULTS
Allele O1variant has frequencies of 0.65, 0.81 and 0.6 in Aymara, Huilliche and Santiago subjects, respectively. The figures for allele O1 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 O1variant in South American aboriginal populations. The frequencies of G542A allele in these Chilean individuals are lower than those described for Amazon aborigines.
Llop R
Elena
E
Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile. ellop@med.uchile.cl
Henríquez B
Hugo
H
Moraga V
Mauricio
M
Castro D
Mario
M
Rothhammer E
Francisco
F
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D002677:Chile; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
D000017:ABO Blood-Group System