Entry - #111620 - RADIN BLOOD GROUP ANTIGEN; RD - OMIM
 
# 111620

RADIN BLOOD GROUP ANTIGEN; RD


Alternative titles; symbols

BLOOD GROUP--RADIN ANTIGEN


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
1p34.2 [Blood group, Radin] 111620 3 ERMAP 609017

TEXT

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.


Description

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.


Mapping

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.


Molecular Genetics

Wagner et al. (2003) demonstrated heterozygosity for a pro60-to-ala allele in the ERMAP gene (609017.0003) in an Rd+ proband.


REFERENCES

  1. 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.

  2. 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.

  3. 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, related citations] [Full Text]

  4. Lewis, M., Kaita, H. Genetic linkage between the Radin and Rh blood group loci. Vox Sang. 37: 286-289, 1979. [PubMed: 118583, related citations] [Full Text]

  5. 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, related citations] [Full Text]

  6. Wagner, F. F., Poole, J., Flegel, W. A. Scianna antigens including Rd are expressed by ERMAP. Blood 101: 752-757, 2003. [PubMed: 12393480, related citations] [Full Text]


Joanna S. Amberger - updated : 11/12/2009
Victor A. McKusick - updated : 12/22/2005
Creation Date:
Victor A. McKusick : 6/4/1986
carol : 12/13/2016
carol : 02/06/2013
joanna : 2/7/2011
carol : 11/12/2009
joanna : 11/12/2009
carol : 12/23/2005
terry : 12/22/2005
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986

# 111620

RADIN BLOOD GROUP ANTIGEN; RD


Alternative titles; symbols

BLOOD GROUP--RADIN ANTIGEN


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
1p34.2 [Blood group, Radin] 111620 3 ERMAP 609017

TEXT

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.


Description

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.


Mapping

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.


Molecular Genetics

Wagner et al. (2003) demonstrated heterozygosity for a pro60-to-ala allele in the ERMAP gene (609017.0003) in an Rd+ proband.


REFERENCES

  1. 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.

  2. 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.

  3. 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]

  4. 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]

  5. 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]

  6. 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]


Contributors:
Joanna S. Amberger - updated : 11/12/2009
Victor A. McKusick - updated : 12/22/2005

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 12/13/2016
carol : 02/06/2013
joanna : 2/7/2011
carol : 11/12/2009
joanna : 11/12/2009
carol : 12/23/2005
terry : 12/22/2005
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986