Phenotype studies of ABO blood groups in most Amerindian populations r
evealed the exclusive presence of group O. Since group O is the result
of the absence of glycosyltransferase activity, its molecular bases m
ay be heterogeneous. We carried out ABO blood group genotyping by anal
ysis of DNA of 30 Indians from 2 Amazonian tribes (Yanomami and Arara)
, and compared the findings with other populations (Caucasians and Bla
cks). Two segments of the glycosyltransferase gene were amplified by P
CR and digested with KpnI or AluI to detect deletion or base change at
positions 258 and 700, respectively. For all subjects, the gene basis
of blood group O is the deletion of a single nucleotide at position 2
58 of the glycosyltransferase A gene, similar to that observed in Cauc
asoids and Negroids. DNA sequencing of limited regions of the gene sup
ports this conclusion. This finding does not exclude, however, that a
heterogeneity of the O allele may be revealed by a more extensive anal
ysis.