Alternative titles; symbols
SNOMEDCT: 85129003;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q21.31 | [Blood group, Wright] | 112050 | 3 | SLC4A1 | 109270 |
A number sign (#) is used with this entry because of evidence that the blood group Wright antigens are associated with a polymorphism in human erythrocyte band-3 (SLC4A1; 109270) on chromosome 17q21.
The Wright antigen, a 'private' blood group (see 111500), was found by Holman (1953). Although it is very rare, the early date of its discovery and the ready availability of testing sera led to a large number of persons and variety of populations being tested. The frequency of the gene for the Wr(a) antigen was found to be about 3 in 10,000 among Europeans (Mourant et al., 1978).
Because the Wr(b) antigen appeared to involve both red blood cell band-3 and glycophorin A (GPA; 617922), Bruce et al. (1995) examined the cDNA sequences of band-3 and GPA of 1 of the 2 known Wr(a+b-) individuals. They showed that this person was homozygous for a glu658-to-lys mutation in the BND3 gene, but had normal GPA. Putative heterozygotes with Wr(a+b+) RBCs had both glu and lys at residue 658 of band-3, whereas the common Wr(a-b+) RBC phenotype had only band-3 with glu658. Thus, the Wr(a) and Wr(b) antigens are determined by the amino acid at residue 658 of band-3 (109270.0006) and are antithetical. Bruce et al. (1995) proposed that arg61 of GPA interacts with glu658 of band-3 to form the Wr(b) antigen.
Bruce, L. J., Ring, S. M., Anstee, D. J., Reid, M. E., Wilkinson, S., Tanner, M. J. A. Changes in the blood group Wright antigens are associated with a mutation at amino acid 658 in human erythrocyte band 3: a site of interaction between band 3 and glycophorin A under certain conditions. Blood 85: 541-547, 1995. [PubMed: 7812009]
Holman, C. A. A new rare human blood group antigen, Wr(a). Lancet 262: 119-120, 1953. Note: Originally Volume II. [PubMed: 13070555] [Full Text: https://doi.org/10.1016/s0140-6736(53)90058-0]
Mourant, A. E., Kopec, A. C., Domaniewska-Sobczak, K. The Genetics of Jews. Oxford: Clarendon Press (pub.) 1978. P. 7.