Alternative titles; symbols
SNOMEDCT: 115689007;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q21.31 | [Blood group, Diego] | 110500 | 3 | SLC4A1 | 109270 |
A number sign (#) is used with this entry because antigens of the Diego blood group system result from variation in the SLC4A1 gene (109270) on chromosome 17q21.
The Diego blood group system consists of 2 pairs of antithetical antigens, Di(a) and Di(b) and Wr(a) and Wr(b), and at least 17 low-frequency antigens that result from amino acid substitutions in SLC4A1, which encodes the erythrocyte band-3 protein. The low-frequency Di(a) and high-frequency Di(b) antigens represent leu854 and pro854, respectively. The low-frequency Wr(a) and high-frequency Wr(b) antigens represent lys658 and glu658, respectively. No healthy person with a Diego-null phenotype has been reported, reflecting the functional importance of SLC4A1 (summary by Daniel, 2002).
The Di(a) antigen was first described in Venezuela on the basis of an antibody that had been the cause of hemolytic disease of the newborn (Levine et al., 1956). A second example of anti-Di(a) was found in Buffalo in the serum of a Polish mother, whose child also suffered from hemolytic disease of the newborn (Tatarsky et al., 1959). The Diego system shows polymorphism mainly in Mongolian peoples, e.g., Chinese and American Indians. In a family of Polish origin, Kusnierz-Alejska and Bochenek (1992) found anti-Di(a) antibody in the serum of a mother who gave birth to a newborn with severe hemolytic anemia. They identified the Di(a) antigen in 45 of 9,661 donor blood samples from different regions of Poland (0.46%). All 45 were of Polish ancestry.
Zelinski et al. (1993) showed that the DI blood group is tightly linked to the erythrocyte surface protein band-3 locus (SLC4A1); maximum lod = 5.42 at theta = 0.00. Looser linkage between DI and D17S41 (maximum lod = 3.14 at theta = 0.09) for combined paternal and maternal meioses was also established. The EPB3 gene is located at 17q21-q22.
Bruce et al. (1994) demonstrated that the Di(a)/Di(b) polymorphism is a single amino acid substitution at position 854 of the band-3 protein, with proline of the wildtype band-3 protein corresponding to the Di(b) antigen and leucine to the Di(a) antigen (109270.0017).
Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).
Bruce, L. J., Anstee, D. J., Spring, F. A., Tanner, M. J. A. Band 3 Memphis variant. II. Altered stilbene disulfonate binding and the Diego (Di(a)) blood group antigen are associated with the human erythrocyte band-3 mutation pro854-to-leu. J. Biol. Chem. 269: 16155-16158, 1994. [PubMed: 8206915]
Daniel, G. Human Blood Groups (2nd ed.) Oxford: :Blackwell 2002. Pp. 352-368.
Kusnierz-Alejska, G., Bochenek, S. Haemolytic disease of the newborn due to anti-Di(a) and incidence of the Di(a) antigen in Poland. Vox Sang. 62: 124-126, 1992. [PubMed: 1519367]
Levine, P., Layrisse, M., Robinson, E. A., Arends, T., Domingues Sisco, R. The Diego blood factor. Nature 177: 40-41, 1956. [PubMed: 13288586] [Full Text: https://doi.org/10.1038/177040b0]
Lewis, M., Kaita, H., Chown, B., Giblett, E. R., Anderson, J., Steinberg, A. G. The Diego blood groups: a genetic linkage analysis. Am. J. Hum. Genet. 28: 18-21, 1976. [PubMed: 1247017]
Roychoudhury, A. K., Nei, M. Human Polymorphic Genes: World Distribution. New York: Oxford Univ. Press (pub.) 1988.
Tatarsky, J., Stroup, M., Levine, P., Ernoehazy, W. S. Another example of anti-Diego (Di-a). Vox Sang. 4: 152-154, 1959. [PubMed: 13669428] [Full Text: https://doi.org/10.1111/j.1423-0410.1959.tb04030.x]
Zelinski, T., Coghlan, G., White, L., Philipps, S. The Diego blood group locus is located on chromosome 17q. Genomics 17: 665-666, 1993. [PubMed: 7902326] [Full Text: https://doi.org/10.1006/geno.1993.1387]