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Vox Sang. 1996;70(1):26-30.

Frequent occurrence of a variant O1 gene at the blood group ABO locus.

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Blood Centre, University Hospital, Lund, Sweden.


Blood group ABO polymorphism was analysed in genomic DNA isolated from 150 blood donors by restriction endonuclease digestion of three polymerase chain reaction-amplified exons in the ABO genes and by sequencing of randomly selected samples. An anomalous O1 allele first described in a cancer cell line is now shown to account for approximately 40% of the O alleles described to date. This is 10 times more frequent than the only other known variant O allele (O2). This variant O1 allele has at least seven point mutations when compared to the consensus gene, in addition to the deletion characterising the normal O1 allele.

[Indexed for MEDLINE]

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