Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles

الملخص EN

The human ABO blood group gene consists of three main alleles (A, B, and O) that encode a glycosyltransferase.

The A and B alleles differ by two critical amino acids in exon 7, and the major O allele has a single nucleotide deletion (Δ261) in exon 6.

Previous evolutionary studies have revealed that the A allele is the most ancient, B allele diverged from the A allele with two critical amino acid substitutions in exon 7, and the major O allele diverged from the A allele with Δ261 in exon 6.

However, a recent phylogenetic network analysis study showed that the A allele of humans emerged through a recombination between the B and O alleles.

In the previous study, a restricted dataset from only two populations was used.

In this study, therefore, we used a large single nucleotide polymorphism (SNP) dataset from the HapMap Project.

The results indicated that the A101-A201-O09 haplogroup was a recombinant lineage between the B and O haplotypes, containing the intact exon 6 from the B allele and the two critical A type sites in exon 7 from the major O allele.

Its recombination point was assumed to be located just behind Δ261 in exon 6.