Alternative titles; symbols
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 17q21.31 | [Blood group, Swann] | 601550 | 3 | SLC4A1 | 109270 |
A number sign (#) is used with this entry because of evidence that the Swann blood group antigens result from variation in the SLC4A1 gene (109270), which encodes the erythrocyte band-3 protein, on chromosome 17q21.
The low-incidence red cell antigen Sw(a) of the Swann blood group system was described by Cleghorn (1959). It was shown to be inherited as an autosomal dominant trait and, although it was not very polymorphic in the general population, sizable kindreds segregating for the SW locus were identified (Lewis et al., 1988).
Genetic linkage studies excluded SW from 17 of the 23 established blood group systems (Daniels et al., 1995). Zelinski et al. (1996) found a peak lod score of 3.01 for the linkage of SW and D17S41, a RFLP polymorphism on chromosome 17. No evidence of recombination was found. Families studied were 3 nuclear families from a previously described French Canadian kindred (Lewis et al., 1988). The SW locus is in the same region of 17q as the Waldner group locus (WD; 112010) and the Froese blood group locus (FR; 601551); although each resides within the 17q12-q24 region, each is clearly unique. Zelinski et al. (1996) showed that the FR locus is tightly linked to the SLC4A1 gene, where mutations causing the Waldner polymorphism are known to be located. They suggested that Fr(a) and Sw(a) may be due to mutations in the SLC4A1 gene.
Molecular analysis demonstrating that Fr(a) and Sw(a) are caused by mutation in the SLC4A1 gene was provided by McManus et al. (2000) and by Zelinski et al. (2000), respectively; see 109270.0029 and 109270.0030.
Cleghorn, T. E. A 'new' human blood group antigen, Sw(a). Nature 184: 1324-1325, 1959. [PubMed: 13810613] [Full Text: https://doi.org/10.1038/1841324b0]
Daniels, G. L., Anstee, D. J., Cartron, J. P., Dahr, W., Issitt, P. D., Jorgensen, J., Kornstad, L., Levene, C., Lomas-Francis, C., Lubenko, A., Mallory, D., Moulds, J. J., and 9 others. Blood group terminology 1995: ISBT Working Party on terminology for red cell surface antigens. Vox Sang. 69: 265-279, 1995. [PubMed: 8578746] [Full Text: https://doi.org/10.1111/j.1423-0410.1995.tb02611.x]
Lewis, M., Kaita, H., Philipps, S., Coghlan, G., Belcher, E., Zelinski, T., McAlpine, P. J., Coopland, G. The Swann phenotype 700:4,-41: genetic studies. Vox Sang. 54: 184-187, 1988. [PubMed: 3369142] [Full Text: https://doi.org/10.1111/j.1423-0410.1988.tb03898.x]
McManus, K., Lupe, K., Coghlan, G., Zelinski, T. An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism. Transfusion 40: 1246-1249, 2000. [PubMed: 11061863] [Full Text: https://doi.org/10.1046/j.1537-2995.2000.40101246.x]
Zelinski, T., McKeown, I., McAlpine, P. J., Philipps, S., Coghlan, G. Assignment of the gene(s) governing Froese and Swann blood group polymorphism to chromosome 17q. Transfusion 36: 419-420, 1996. [PubMed: 8693505] [Full Text: https://doi.org/10.1046/j.1537-2995.1996.36596282584.x]
Zelinski, T., Rusnak, A., McManus, K., Coghlan, G. Distinctive Swann blood group genotypes: molecular investigations. Vox Sang. 79: 215-218, 2000. [PubMed: 11155072] [Full Text: https://doi.org/10.1159/000056733]