A Dc- phenotype encoded by an RHCE-D(5-7/8)-CE hybrid allele

Vox Sanguinis

Volumn 85, Issue 2, 2003, Pages 102-108

  Cotorruelo, Carlos M ^a   Biondi, C S ^a   Garcia Borras S E ^a   Di Monaco R A ^a   Racca, A ^a  

^a UNIVERSIDAD NACIONAL DE ROSARIO   (Argentina)

Author keywords

Dc phenotype; Hybrid allele; RH rare alleles; Rh system; RHCE variant

Indexed keywords

ALLELE; ANTIGENIC VARIATION; ARTICLE; BLOOD GROUP RHESUS SYSTEM; BLOOD SAMPLING; EXON; GENE; GENE DELETION; GENE REARRANGEMENT; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYBRID; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RHCE GENE; RHD GENE;

ALLELES; DNA MUTATIONAL ANALYSIS; EPITOPES; EXONS; FAMILY HEALTH; GLYCOPROTEINS; HUMANS; POLYMORPHISM, GENETIC; RH-HR BLOOD-GROUP SYSTEM;

EID: 0042839561     PISSN: 00429007     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1423-0410.2003.00332.x     Document Type: Article

References (34)

1. Okuda H, Suganuma H, Kamesaki T, Kumada M, Tsudo N, Iwamoto S, Kajii E: The analysis of nucleotide substitutions, gaps and recombination events between RHD and RHCE genes through complete sequencing. Biochem Biophys Res Commun 2000; 274:670-683
2. Wagner FF, Flegel WA: RHD gene deletion occurred in the Rhesus box. Blood 2000; 95:3662-3668
3. Cartron J, Bailly P, Le Van Kim C: Insights into the structure and function of membrane polypeptides carrying blood group antigens. Vox Sang 1998; 74:29-64
4. Colin Y, Chėrif-Zahar B, Le Van Kim C, Raynal V, Van Huffel V, Cartron JP: Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by southern analysis. Blood 1991; 78:2747-2752
5. Avent ND, Reid ME: The Rh blood group system: a review. Blood 2000; 95:375-387
6. Smythe JS, Avent ND, Judson PA, Parsons SF, Martín 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 1996; 87:2968-2973
7. N phenotypes. Blood 1996; 87:4853-4861
8. Har Rh: 33 phenotype results from substitution of exon 5 of the RHCE gene by the corresponding exon of the RHD gene. Br J Haematol 1996; 92:751-757
9. Mouro I, Colin Y, Gane P, Collec E, Zelinski T, Cartron JP, Le Van Kim C: Molecular analysis of blood group Rh transcripts from a rGr variant. Br J Haematol 1996; 93:472-474
10. Noizat-Pirenne F, Mouro I, Gane P, Okubo Y, Hori Y, Rouger P, Le Pennec PY, Cartron JP: Heterogeneity of blood group RhE variants revealed by serological analysis and molecular alteration of the RHCE gene and transcript. Br J Haematol 1998; 103:429-436
11. Noizat-Pirenne F, Mouro I, Le Pennec PY, Mouro I, Rouzaud AM, Juszczak G, Roussel M, Lauroua P, Krause C, Rouger P, Cartron JP, Ansart-Pirenne H: Molecular background of D (C) (e) haplotypes within the white population. Transfusion 2002; 42:627-633
12. Hemker MB, Ligthart PC, Berger L, van Rhenen DJ, van der Schoot CE, Wijk PA: DAR, a new RhD variant involving exons 4, 5, and 7, often in linkage with ceAR, a new Rhce variant frequently found in African blacks. Blood 1999; 94:4337-4342
13. Faas BH, Beckers EA, Wildoer P, Ligthart PC, Overbeeke MA, von Zondervan HA, dem Borne AE, van der Schoot CE: Molecular background of VS and weak C expression in blacks. Transfusion 1997; 37:38-44
14. 0 haplotype. Vox Sang 2000; 78:44-51
15. Noizat-Pirenne F, Mouro I, Le Pennec PY, Ansart-Pirenne H, Juszczak G, Patereau C, Verdier M, Babinet J, Roussel M, Rouger P, Cartron JP: Two new alleles of the RHCE gene in Black individuals: the RHce allele ceMO and the RHCE allele cEMI. Br J Haematol 2001; 113:672-679
16. Noizat-Pirenne F, Mouro I, Le Pennec PY, Verdier M, Babinet J, Juszczak G, Rouger P, Cartron JP: Molecular basis of category EIV variant phenotype. Transfusion 1999; 39:103S [Abstract S471-040A]
17. X (Rh9) blood group specificities. Blood 1995; 86:1196-1201
18. Kashiwase K, Ishikawa Y, Hyodo H, Watanabe Y, Ogawa A, Tsuneyama H, Toyoda C, Uchikawa M, Akaza T, Omine M, Juji T: E variants found in Japanese and c antigenicity alteration without substitution in the second extracellular loop. Transfusion 2001; 41:1408-1412
19. Faas BH, Ligthart PC, Lomas-Francis C, von Overbeeke MA, dem Borne AE, van der Schoot CE: Involvement of Gly96 in the formation of the Rh26 epitope. Transfusion 1997; 37:1123-1130
20. Huang CH, Reid M, Cheng Y, Novaretti M: Deletion of Arg229 in RhCE polypeptide alters expression of Rhe and ce-associated Rh6 antigens. Blood 1997; 90:272a [Suppl. 1, Abstract]
21. Huang CH, Chen Y, Reid M, Ghosh S: Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene. Am J Hum Genet 1996; 59:825-833
22. Cherif-Zahar B, Raynal V, Cartron JP: Lack of RHCE-encoded proteins in the D- phenotype may result from homologous recombination between the two RH genes. Blood 1996; 88:1518-1520
23. Cheng GJ, Chen Y, Reid ME, Huang CH: Evans antigen: a new hybrid structure occurring on background of D. and D- Rh complexes. Vox Sang 2000; 78:44-51
24. Huang CH, Reid ME, Chen Y: Identification of a partial internal deletion in the RH locus causing the human erythrocyte D- phenotype. Blood 1995; 86:784-790
25. Kemp TJ, Poulter M, Carritt B: A recombination hot spot in the Rh genes revealed by analysis of unrelated donors with the rare D- phenotype. Am J Hum Genet 1996; 59:1066-1073
26. w- gene complexes. Blood 1994; 84:4354-4360
27. Huang CH, Liu PZ, Cheng JG: Molecular biology and genetics of the Rh blood group system. Semin Hematol 2000; 37:150-165
28. w- red blood cells: phenotypic homozygosity versus genotypic heterozygosity. Blood 1996; 88:2326-2333
29. Cotorruelo C, García Rosasco M, Foresto P, Biondi C, Racca A, Valverde J: Deletion of E and e antigens in a pregnan woman. Transfusion 1996; 36:191
30. Miller SA, Dykes DD, Polesky HF: A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215
31. Cotorruelo C, Biondi C, García Borrȧs S, Galizzi S, Di Mónaco R, Racca A: Molecular determination of RhD phenotype by DNA typing. Clinical applications. Ann Clin Biochem 2000; 37:781-789
32. Gassner C, Schmarda A, Kilga-Nogler S, Jenny-Feldkircher B, Rainer E, Muller TH, Wagner FF, Flegel WA, Schonitzer D: RHD/ CE typing by polymerase chain reaction using sequence-specific primers. Transfusion 1997; 37:1020-1026
33. Shaffer AL, Falk-Wade JA, Tortorelli V, Cigan A, Carter C, Hassan K, Hurley CK: HLA-DRw52-associated DRB1 alleles: identification using polymerase chain reaction-amplified DNA, sequence-specific oligonucleotide probes, and a chemiluminescent detection system. Tissue Antigens 1992; 39:84-90.
34. DBT. Br J Haematol 1996; 93:720-727