Evidence for a New Type of O Allele at the ABO Locus, due to a Combination of the A2 Nucleotide Deletion and the Ael Nucleotide Insertion
Article first published online: 15 MAY 2003
DOI: 10.1046/j.1423-0410.1996.7120113.x
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How to Cite
Olsson, M. L. and Chester, M. A. (1996), Evidence for a New Type of O Allele at the ABO Locus, due to a Combination of the A2 Nucleotide Deletion and the Ael Nucleotide Insertion. Vox Sanguinis, 71: 113–117. doi: 10.1046/j.1423-0410.1996.7120113.x
Publication History
- Issue published online: 15 MAY 2003
- Article first published online: 15 MAY 2003
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Abstract
Using a recently introduced multiplex polymerase chain reaction and restriction fragment length polymorphism ABO genotype screening method we have found an anomalous ABO genotype (A2O1 variant) not correlating with the serological phenotype (blood group O). The blood group was confirmed by absorption/elution and detection of blood group substances in saliva. Sequencing of exons 6 and 7 in the ABO genes of the propositus indicated an A2 gene (C467T and C1060-) apparently inactivated by the same single nucleotide insertion recently reported in individuals with the ABO subgroup Ael. Investigation of relatives confirmed the inheritance of this new inactive hybrid allele.

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