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Prepublished online as a Blood First Edition Paper on June 26, 2003; DOI 10.1182/blood-2003-03-0955.
Submitted March 27, 2003
Accepted June 18, 2003
The nature of diversity and diversification at the ABO locus
Axel Seltsam, Michael Hallensleben, Anke Kollmann, and Rainer Blasczyk*
Department of Transfusion Medicine, Medical School Hannover, Hannover, Germany
* Corresponding author; email: blasczyk.rainer{at}mh-hannover.de.
In this study we analyzed the complete genomic sequences, except intron 1, and two regulatory regions of six common (ABO*A101, ABO*A201, ABO*B101, ABO*O01, ABO*O02 and ABO*O03) and 18 rare ABO alleles, three of which were new. This was done by phylogenetic analysis and correlating sequence data with the ABO phenotypes. The study revealed multiple polymorphisms in non-coding regions. The intron based phylogenetic analysis revealed 5 main lineages: ABO*A, ABO*B, ABO*O01, ABO*O02, and ABO*O03. The genomic sequences of most rare ABO alleles differed slightly from those of the common alleles. Singular mutations or hybrid alleles were most common, but a few exhibited mosaic sequence pattern containing multiple exon and/or intron motifs from other ABO lineages. Thus, both an accumulation of mutations as well as an assortment of the mutations by recombination seems to be responsible for the ABO gene diversity. The prevalence of replacement mutations indicates positive selection for allelic diversity. Phenotype-genotype correlation showed that sequence variations within the complete coding sequence can affect A and B antigen expression. All variant ABO*A/B alleles and one new ABO*O03-like allele were associated with weak ABO phenotypes. These findings are suggestive of the requirement of a comprehensive coding sequence database for sequence-based phenotype prediction.
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