Other entities represented in this entry:
SNOMEDCT: 115683008;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 19q13.32 | [Blood group, Auberger system] | 111200 | 3 | LU | 612773 | |
| 19q13.32 | [Blood group, Lutheran system] | 111200 | 3 | LU | 612773 |
A number sign (#) is used with this entry because the Lutheran (Lu) and Auberger (Au) blood group antigen systems are both encoded by the BCAM gene (612773).
Lutheran is a complex blood group system consisting of 19 antigens numbered from LU1 to LU21, with 2 numbers (LU10 and LU15) declared obsolete. Four pairs of these antigens have allelic relationships: LU1/LU2, also known as Lu(a)/(b); LU6 and LU9; LU8 and LU14; and LU18/LU19, also known as Au(a)/(b) (Karamatic Crew et al., 2007).
Although the Au(a) antigen was found by Salmon et al. (1961), the antithetical antigen, Au(b), was not found until 1989 (Frandson et al., 1989). Daniels et al. (1991) showed that the Au(a) and Au(b) antigens belong to the Lutheran system.
For a discussion of Lutheran blood group phenotypes, see 247420.
Lutheran System
El Nemer et al. (1997) found that BCAM coding sequences amplified from the genomic DNA of Lu (a+b-) or Lu (a-b+) blood donors showed a single G-to-A transition in the gene (H77R; 612773.0001). When expressed in Chinese hamster ovary (CHO) cells, Lu cDNAs carrying 229A or 229G produced cell surface proteins that reacted with anti-Lu(a) or anti-Lu(b) antibodies, respectively, showing that these nucleotides specified the 2 major alleles of the Lutheran blood group locus.
Parsons et al. (1997) also demonstrated that the Lu(a)/Lu(b) variant is determined by an H77R variant in the BCAM1 gene, resulting in a substitution in immunoglobulin domain-1.
Auberger System
Parsons et al. (1997) demonstrated that the Au(a)/Au(b) polymorphism resulted from a variation in the G strand of domain 5 of the BCAM gene (T539A; 612773.0002)
Daniels, G. L., Le Pennec, P. Y., Rouger, P., Salmon, C., Tippett, P. The red cell antigens Au(a) and Au(b) belong to the Lutheran system. Vox Sang. 60: 191-192, 1991. [PubMed: 1862644] [Full Text: https://doi.org/10.1111/j.1423-0410.1991.tb00903.x]
El Nemer, W., Rahuel, C., Colin, Y., Gane, P., Cartron, J. P., Le Van Kim, C. Organization of the human LU gene and molecular basis of the Lu(a)/Lu(b) blood group polymorphism. Blood 89: 4608-4616, 1997. [PubMed: 9192786]
Frandson, S., Atkins, C. J., Moulds, M., Poole, J., Crawford, M. N., Tippett, P. Anti-Au(b): the antithetical antibody to anti-Au(a). Vox Sang. 56: 54-56, 1989. [PubMed: 2644738] [Full Text: https://doi.org/10.1111/j.1423-0410.1989.tb03049.x]
Karamatic Crew, V., Mallinson, G., Green, C., Poole, J., Uchikawa, M., Tani, Y., Geisen, C., Oldenburg, J., Daniels, G. Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype. Transfusion 47: 492-498, 2007. [PubMed: 17319831] [Full Text: https://doi.org/10.1111/j.1537-2995.2006.01141.x]
Parsons, S. F., Mallinson, G., Daniels, G. L., Green, C. A., Smythe, J. S., Anstee, D. J. Use of domain-deletion mutants to locate Lutheran blood group antigens to each of the five immunoglobulin superfamily domains of the Lutheran glycoprotein: elucidation of the molecular basis of the Lu(a)/Lu(b) and the Au(a)/Au(b) polymorphisms. Blood 89: 4219-4225, 1997. [PubMed: 9166867]
Salmon, C., Salmon, D., Liberge, G., Andre, R., Tippett, P., Sanger, R. Un nouvel antigene de groupe sanguin erythrocytaire present chez 80% des sujets de race blanche. Nouv. Rev. Franc. Hemat. 1: 649-661, 1961. [PubMed: 14496427]