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Abstract Background Since the cloning in 1990 of cDNA corresponding to mRNA transcribed at the blood-group ABO locus, polymorphisms due to ethnic and/or phenotypic variations have been reported. Some subgroups have been explained at the molecular level, but unresolved samples are frequently encountered in the reference laboratory. Results ABO blood grouping discrepancies were investigated serologically and by <it>ABO </it>genotyping [duplex polymerase-chain-reaction (PCR) – restriction-fragment-length-polymorphism (RFLP) and PCR – allele-specific-primer (ASP) across intron 6] and DNA sequencing of the <it>ABO </it>gene and its proposed regulatory elements. Blood samples from five individuals living in Portugal, Switzerland, Sweden and the USA were analysed. These individuals were confirmed to be of Black ethnic origin and had the unusual AweakB phenotype but appeared to have the <it>A</it>2<it>B </it>genotype without previously reported mutations associated with weak A or B expression. Sequencing of this <it>A </it>allele (having 467C>T and 1061delC associated with the common <it>A</it>2 [A201] allele) revealed three mutations regularly encountered in the <it>O</it>1<it>v </it>[O02] allele: 106C>T (Val36Phe), 188G>A (Arg63His), 220C>T (Pro74Ser) in exons 3, 4 and 5, respectively. The additional presence of 46G>A (Ala16Thr) was noted, whilst 189C>T that normally accompanies 188G>A in <it>O</it>1<it>v </it>was missing, as were all <it>O</it>1<it>v</it>-related mutations in exons 6 and 7 (261delG, 297A>G, 646T>A, 681G>A, 771C>T and 829G>A). On screening other samples, 46G>A was absent, but two new <it>O </it>alleles were found, a Jordanian <it>O</it>1 and an African <it>O</it>1<it>v </it>allele having 188G>A but lacking 189C>T. Sequencing of introns 2, 3, 4 and 5 in common alleles (<it>A</it>1 [A101], <it>A</it>2<it>, B </it>[B101], <it>O</it>1<it>, O</it>1<it>v</it>and <it>O</it>2 [O03]) revealed 7, 12, 17 and 8 polymorphic positions, respectively, suggesting that alleles could be defined by intronic sequences. These polymorphic sites allowed definition of a breakpoint in intron 5 where the <it>O</it>1<it>v</it>-related sequence was fused with <it>A</it>2 to form the new hybrid. Intron 6 has previously been sequenced. Four new mutations were detected in the hybrid allele and these were subsequently also found in intron 6 of <it>A</it>2 alleles in other Black African samples. Conclusions A novel <it>O</it>1<it>v</it><it>-A</it>2 hybrid was defined by ABO exon/intron analysis in five unrelated individuals of African descent with the AweakB blood group phenotype.</p

bmc genomic data

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.