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Scianna antigens including Rd are expressed by ERMAP
Franz F Wagner1, Joyce Poole, Willy A Flegel
1Department of Transfusion Medicine, University of Ulm, DRK (German Red Cross)-Blood Donation Service Baden-Württemberg-Hessen, Institute Ulm, Germany.
Blood
|October 24, 2002
Summary
The molecular basis of the Scianna blood group is now understood, linked to the erythrocyte membrane-associated protein (ERMAP) gene. This discovery enables phenotype prediction for all protein-based human blood group systems.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- The Scianna blood group includes Sc1, Sc3, and Sc2 antigens, with Rd (Radin) also potentially linked.
- The molecular basis of the Scianna blood group remained unknown.
- Erythrocyte membrane-associated protein (ERMAP) shares characteristics with Scianna, suggesting a connection.
Purpose of the Study:
- To elucidate the molecular basis of the Scianna blood group.
- To identify the gene responsible for Scianna and Radin blood group antigens.
- To develop genotyping methods for Scianna blood group alleles.
Main Methods:
- Sequencing of the ERMAP gene in individuals with known Scianna and Radin phenotypes.
- Analysis of ERMAP gene variants, including deletions and point mutations.
- Development of polymerase chain reaction with sequence-specific priming (PCR-SSP) for allele detection.
Main Results:
- A 2-bp deletion in ERMAP exon 3 identified in a Sc:-1,-2 proband.
- An ERMAP(Gly57Arg) allele found in a Sc:-1,2 proband.
- An ERMAP(Pro60Ala) allele identified in an Rd(+) proband, confirming ERMAP's role.
Conclusions:
- The human ERMAP protein expresses Scianna blood group antigens, including Rd.
- Specific ERMAP alleles, ERMAP(Gly57Arg) and ERMAP(Pro60Ala), cause the Sc2 and Rd phenotypes, respectively.
- Scianna is the final protein-based blood group system with a elucidated molecular basis, allowing for genotype-based phenotype prediction.