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Blood, 1 September 2001, Vol. 98, No. 5, pp. 1585-1593
TRANSFUSION MEDICINE
Genomic analysis of clinical samples with serologic ABO blood
grouping discrepancies: identification of 15 novel A and B subgroup
alleles
Martin L. Olsson,
Nidal M. Irshaid,
Bahram Hosseini-Maaf,
Åsa Hellberg,
Marilyn K. Moulds,
Hannele Sareneva, and
M. Alan Chester
From the Blood Centre, University Hospital, Lund,
Sweden; Department of Transfusion Medicine, Institute of Laboratory
Medicine, Lund University, Sweden; Immucor/Gamma Reference
Laboratories, Atlanta, GA, and Houston, TX; and Red Cross Blood
Transfusion Service, Helsinki, Finland.
Since the cloning in 1990 of complementary DNA corresponding to
messenger RNA transcribed at the blood group ABO locus, polymorphisms and phenotype-genotype correlations have been reported by several investigators. Exons 6 and 7, constituting 77% of the gene, have been
analyzed previously in samples with variant phenotypes but for many
subgroups the molecular basis remains unknown. This study analyzed 324 blood samples involved in ABO grouping discrepancies and determined
their ABO genotype. Samples from individuals found to have
known subgroup alleles (n = 53), acquired ABO phenotypes associated
with different medical conditions (n = 65), probable chimerism
(n = 3), and common red blood cell phenotypes (n = 109) were
evaluated by ABO genotype screening only. Other samples
(n = 94) from apparently healthy donors with weak expression of A or
B antigens were considered potential subgroup samples without known
molecular background. The full coding region (exons 1-7) and 2 proposed
regulatory regions of the ABO gene were sequenced in
selected A (n = 22) or B (n = 12) subgroup samples. Fifteen novel
ABO subgroup alleles were identified, 2 of which are the first examples of mutations outside exon 7 associated with weak subgroups. Each allele was characterized by a missense or nonsense mutation for which screening by allele-specific primer polymerase chain
reaction was performed. The novel mutations were encountered in 28 of
the remaining 60 A and B subgroup samples but not among normal donors.
As a result of this study, the number of definable alleles associated
with weak ABO subgroups has increased from the 14 previously published
to 29.
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