Alternative titles; symbols
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q21.31 | [Blood group, Waldner] | 112010 | 3 | SLC4A1 | 109270 |
A number sign (#) is used with this entry because of evidence that Waldner blood group expression is caused by a point mutation in the SLC4A1 gene (109270).
Lewis and Kaita (1981) found a 'new' red cell antigen in Hutterites of the surname Waldner. Zelinski et al. (1995) stated that the WD blood group antigen had been identified in Khoisans in South Africa and in a family in Holland. By genetic linkage analysis, they showed that WD is loosely linked to the reference marker D17S41 at 17q12-q24 and closely linked to the SLC4A1 locus at 17q12-q21.
Bruce et al. (1995) demonstrated that the Wd(a) results from a substitution of methionine for valine-557 in erythrocyte band-3 (109270.0011).
Bruce, L. J., Tanner, M. J. A., Zelinski, T. The low incidence blood group antigen, Wd(a), is associated with the substitution val557-to-met in human erythrocyte band 3. (Abstract) Transfusion 35 (suppl.): 52S only, 1995.
Lewis, M., Kaita, H. A 'new' low incidence 'Hutterite' blood group antigen Waldner (Wd-a). Am. J. Hum. Genet. 33: 418-420, 1981. [PubMed: 6941697]
Zelinski, T., Coghlan, G., White, L., Phillips, S. Assignment of the Waldner blood group locus (WD) to 17q12-q21. Genomics 25: 320-322, 1995. [PubMed: 7774942] [Full Text: https://doi.org/10.1016/0888-7543(95)80148-f]