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Transfusion. 1997 Nov-Dec;37(11-12):1123-30.

Involvement of Gly96 in the formation of the Rh26 epitope.

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1
Central Laboratory of The Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands.

Abstract

BACKGROUND:

The Rh system, a complex blood group system, comprises at least 45 antigens. Red cells expressing c usually express Rh26. Rare cells that are c+ Rh:-26 give variable reactions with anti-c and may have weak expression of f (ce).

STUDY DESIGN AND METHODS:

Serologic and molecular studies were performed with red cells from persons with the c+ Rh:-26 phenotype occurring in two unrelated Dutch families. Red cells of 11 members of these two families were typed for Rh26, for c (with monoclonal and polyclonal reagents), and for f (ce). The cDNA of three donors was sequenced, while restricted DNA analysis was carried out on material from available members of the two families.

RESULTS:

Serologic tests showed that the rare c+ Rh:-26 phenotype was associated with a weak expression of c and a normal expression of f. The cDNA analysis of three members of one family revealed a single-point mutation (G286A) in exon 2 of the ce allele. Allele-specific primer amplification, polymerase chain reaction followed by allele-specific restriction analysis, and single-strand conformation polymorphism showed the same polymorphism in all other members of both families, whereas it was absent in 80 control donors.

CONCLUSION:

The c+ Rh:-26 phenotype, identified in two families, is associated with a single-point mutation at nucleotide 286 (G286A) in the ce allele, which predicts a Gly96Ser amino acid substitution. This substitution also affects c, because all anti-c reagents reacted more weakly. Other polymorphic sites apparently are involved in the formation of the Rh26 epitope as well, because Rh26 is expressed only on the c polypeptide, whereas Gly96 is expressed on all polypeptides.

[Indexed for MEDLINE]

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