A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rh(null) blood donor of the regulator type

Blood

Volumn 91, Issue 4, 1998, Pages 1458-1463

  Hyland, C A ^a   Cherif Zahar B ^b   Cowley, N ^b   Raynal, V ^b   Parkes, J ^b   Saul, A ^b   Cartron, J P ^b  

^a AUSTRALIAN RED CROSS BLOOD SERVICE   (Australia)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN EXPRESSION; ARTICLE; BLOOD DONOR; BLOOD GROUP RHESUS SYSTEM; CONTROLLED STUDY; DNA SEQUENCE; EXTRACHROMOSOMAL INHERITANCE; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; MOLECULAR CLONING; PREDICTION; PRIORITY JOURNAL; REGULATOR GENE;

EID: 2642696816     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v91.4.1458     Document Type: Article

References (26)

1. Daniels G: Human Blood Groups. Oxford, UK, Blackwell Science, 1995, p 257
2. Agre P, Cartron JP: Molecular biology of Rh antigens. Blood 78:551, 1991
3. Cartron JP: Defining the Rh blood group antigen. Blood Rev 8:199, 1994
4. Cartron JP, Agre P: Rh blood group antigens: Protein and gene structure. Semin Hematol 30:193, 1993
5. Anstee DJ, Tanner MJA: Biochemical aspects of the blood group Rh (Rhesus) antigens. Baillieres Clin Haematol 6:401, 1990
6. Colin Y, Chérif-Zahar B, Le Van Kim C, Raynal V, Van Huffel V, Cartron J-P: Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood 78:2747, 1991
7. Chérif-Zahar B, Raynal V, Le Van Kim C, D'Ambrosio AM, Bailly P, Cartron JP, Colin Y: Structure and expression of the RH locus in the Rh-deficiency syndrome. Blood 82:656, 1993
8. Smythe JS, Avent ND, Judson PA, Parsons SF, Martin PG, Anstee DJ: Expression of RHD and RHCE gene products using retroviral transduction of K562 cells establishes the molecular basis of Rh blood group antigens. Blood 87:2968, 1996
9. Apoil PA, Reid ME, Halverson G, Mouro I, Colin Y, Roubinet F, Cartron JP, Blancher A: A human monoclonal anti-D antibody detecting a non conformation dependent epitope on the RhD protein. Br J Haematol 98:365, 1997
10. Tippett P: Regulator genes affecting red cell antigens. Transfus Med Rev 1:56, 1990
11. Ridgwell K, Spurr NK, Laguda B, Macgeoch C, Avent ND, Tanner MJA: Isolation of cDNA clones for a 50 kDa glycoprotein of the human erythrocyte membrane associated with Rh (Rhesus) blood-group antigen expression. Biochem J 287:223, 1992
12. Chérif-Zahar B, Raynal V, Gane P, Mattel MG, Bailly P, Gibbs B, Colin Y, Cartron JP: Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. Nat Genet 12:168, 1996
13. null human erythrocytes have an abnormal membrane phospholipid organisation. Biochem J 221:931, 1984
14. null human erythrocytes. Biochem J 213:267, 1983
15. Ridgwell K, Eyers SAC, Mawby WJ, Anstee DJ, Tanner MJA: Studies on the glycoprotein associated with Rh (Rhesus) blood group antigen expression in the human red blood cell membrane. J Biol Chem 269:6410, 1994
16. null human erythrocytes. Biochem J 251:499, 1988
17. Wolter LC, Hyland CA, Saul A: Rhesus D genotyping using polymerase chain reaction. Blood 85:1682, 1993
18. Hyland CA, Wolter LC, Liew YW, Saul A: A Southern analysis of Rh blood group genes: Association between restriction fragment length polymorphism patterns and Rh serotypes. Blood 83:566, 1994
19. Gossens M, Kan YY: DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 76:805, 1981
20. Lahiri DK, Nurnberger JI Jr: A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444, 1991
21. Eyers SAC, Ridgwell K, Mawby WJ, Tanner MJA: Topology and organisation of human Rh (Rhesus) blood group-related polypeptides. J Biol Chem 269:6417, 1994
22. Deen PMT, Croes H, van Aubel RAMH, Ginsel LA, van Os CH: Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J Clin Invest 95:2291, 1995
23. Mallison G, Anstee DJ, Avent ND, Ridgwell K, Tanner MJA, Daniels GL, Tippett P, von dem Borne AEG: Murine monoclonal antibody MB-2D10 recognizes Rh-related glycoproteins in the human red cell membrane. Transfusion 30:222, 1990
24. null erythrocytes. Blut 54:13, 1987
25. Race RR, Sanger R: The Rh blood group, in Blood Groups in Man (ed 6). Oxford, UK, Blackwell, 1975, p 178
26. null. Nature 204:892, 1964