Alternative titles; symbols
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
1p34.2 | [Blood group, Radin] | 111620 | 3 | ERMAP | 609017 |
A number sign (#) is used with this entry because of evidence that the Radin antigen (Rd) belongs to the Scianna blood group system (111750) and is determined by a specific change in the gene encoding erythroblast membrane-associated protein (ERMAP; 609017) on chromosome 1p34.
Radin is a rare red cell antigen discovered by Rausen et al. (1967) in 5 families with varying ethnic backgrounds. It has been shown to cause mild to moderate hemolytic disease of the newborn in some cases. The Radin antigen is determined by a polymorphism in the ERMAP gene (609017.0003) and thus is a member of the blood group Scianna (Wagner et al., 2003). Radin has alternatively been labeled Sc4 to reflect this relationship.
Harvey et al. (1983) estimated the frequency of the Radin antigen among Europeans to be 0.04% to 0.66% with the highest frequencies occurring among Swedes and Danes.
Lewis and Kaita (1979) found linkage of Rd with Rh (lod score of 3.89 at a recombination fraction of 0.10). This suggested that Radin might be part of the Scianna system, since the latter locus is on 1p in the region of Rh. Lewis et al. (1980) presented evidence that the Radin blood group antigen is governed by a locus called Rd, which is located between PGM1 (171900) and alpha-fucosidase--Rh, and is either very closely linked to or identical with Sc. Hilden et al. (1985) found linkage of Rd to chromosome 1 in 9 of 11 families studied.
Wagner et al. (2003) demonstrated heterozygosity for a pro60-to-ala allele in the ERMAP gene (609017.0003) in an Rd+ proband.
Harvey, R. G., Tills, D., Warlow, A., Kopec, A. C., Domaniewska-Sobezak, K., Suter, D., Lord, J. M. Genetic affinities of the Balts: a study of blood groups, serum proteins and enzymes of Lithuanians in the United Kingdom. Man (NS) 18: 535-552, 1983.
Hilden, J.-O., Shaw, M.-A., Whitehouse, D. B., Monteiro, M., Tippett, P. Linkage information from nine more Radin families. (Abstract) Cytogenet. Cell Genet. 40: 650-651, 1985.
Lewis, M., Kaita, H., Philipps, S., Giblett, E. R., Anderson, J. E., McAlpine, P. J., Nickel, B. The position of the Radin blood group locus in relation to other chromosome 1 loci. Ann. Hum. Genet. 44: 179-184, 1980. [PubMed: 6459052] [Full Text: https://doi.org/10.1111/j.1469-1809.1980.tb00956.x]
Lewis, M., Kaita, H. Genetic linkage between the Radin and Rh blood group loci. Vox Sang. 37: 286-289, 1979. [PubMed: 118583] [Full Text: https://doi.org/10.1111/j.1423-0410.1979.tb02306.x]
Rausen, A. R., Rosenfield, R. E., Alter, A. A., Hakim, S., Graven, S. N., Apollon, C. J., Dallman, P. R., Dalziel, J. C., Konugres, A. A., Francis, B., Gavin, J., Cleghorn, T. E. A 'new' infrequent red cell antigen, Rd (Radin). Transfusion 7: 336-342, 1967. [PubMed: 6069618] [Full Text: https://doi.org/10.1111/j.1537-2995.1967.tb04864.x]
Wagner, F. F., Poole, J., Flegel, W. A. Scianna antigens including Rd are expressed by ERMAP. Blood 101: 752-757, 2003. [PubMed: 12393480] [Full Text: https://doi.org/10.1182/blood-2002-07-2064]