New genotypes in Fy(a-b-) individuals: Nonsense mutations (Trp to stop) in the coding sequence of either FY A or FY B

British Journal of Haematology

Volumn 108, Issue 2, 2000, Pages 448-454

  Rios, Maria ^a   Chaudhuri, Asok ^a   Mallinson, Gary ^b   Sausais, Laima ^a   Gomensoro Garcia, Alicia E ^c   Hannon, Judy ^d   Rosenberger, Sheila ^d   Poole, Joyce ^b   Burgess, Gordon ^e   Pogo, Oscar ^a   Reid, Marion ^a  

^a NEW YORK BLOOD CENTER   (United States)

^b NHS BLOOD AND TRANSPLANT   (United Kingdom)

^c MAIMONIDES MEDICAL CENTER   (United States)

^d CANADIAN BLOOD SERVICES   (Canada)

^e New York Blood Center ^*

Author keywords

Blood group polymorphism; Chemokine receptor; Duffz; Malaria resistance; Null phenotype

Indexed keywords

BLOOD GROUP ANTIGEN; CHEMOKINE RECEPTOR; TRANSCRIPTION FACTOR GATA 1; TRYPTOPHAN;

ADULT; AGED; ARTICLE; BLOOD GROUP DUFFY SYSTEM; CASE REPORT; CAUCASIAN; CODON; ERYTHROCYTE MEMBRANE; FEMALE; GENE SEQUENCE; GENE SILENCING; GENOTYPE; HUMAN; HUMAN CELL; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

AGED; AGED, 80 AND OVER; CODON, NONSENSE; CODON, TERMINATOR; DUFFY BLOOD-GROUP SYSTEM; FATAL OUTCOME; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0034096434     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.01882.x     Document Type: Article

References (22)

1. Buchanan, D.I., Sinclair, M., Sanger, R., Gavin, J. & Teesdale, P. (1976) An Alberta Cree Indian with a rare Duffy antibody, anti-Fy3. Vox Sanguinis, 30, 114-121.
2. Castilho, L.M., Rios, M., Pellegrino, J.J., Saad, S.T.O., Bianco, C. & Reid, M.E. (1999) A novel point mutation in the erythrocyte Duffy protein (Abstract). Transfusion, 39 (Suppl. 1), 90S.
3. Chaudhuri, A., Nielsen, S., Elkjaer, M.L., Zbrzezna, V., Fang, F. & Pogo, A.O. (1997) Detection of Duffy antigen in the plasma membranes and caveolae of vascular endothelial and epithelial cells of nonerythroid organs. Blood, 89, 701-712.
4. Chaudhuri, A., Polyakova, J., Zbrzezna, V. & Pogo, O. (1995) The coding sequence of Duffy blood group gene in humans and simians: restriction fragment length polymorphism, antibody and malarial parasite specificities, and expression in nonerythroid tissues in Duffy-negative individuals. Blood, 85, 615-621.
5. Chaudhuri, A., Polyakova, J., Zbrzezna, V., Williams, K., Gulati, S. & Pogo, A.O. (1993) Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite. Proceedings of the National Academy of Sciences of the United States of America, 90, 10793-10797.
6. Donahue, R.P., Bias, W., Renwick, J.H. & McKusick, V.A. (1968) Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proceedings of the National Academy of Sciences of the United States of America, 61, 949-955.
7. Iwamoto, S., Li, J., Omi, T., Ikemoto, S. & Kajii, E. (1996) Identification of a novel exon and spliced form of Duffy mRNA that is the predominant transcript in both erythroid and postcapillary venule endothelium. Blood, 87, 378-385.
8. b alloantigen system is associated with a polymorphism at the 44-amino acid residue. Blood, 85, 622-626.
9. Mallinson, G., Burgess, G., Hook, S., Murphy, M., Poole, J. & Anstee, D.J. (1995b) A Caucasian individual with the Fy (a-b-) phenotype has a novel defect in the FY gene (Abstract). Transfusion Medicine, 5, 19.
10. b antigens and identification of a deletion in the Duffy gene of an apparently healthy individual with the Fy (a-b-) phenotype. British Journal of Haematology, 90, 823-829.
11. Mougey, R., Papi, P. & Martin, J. (1987) The enzyme-linked antiglobulin test and the FY gene in Caucasians (Abstract). Transfusion, 27, 516.
12. Murphy, M.T., Templeton, L.J., Fleming, J., Ferguson, M., Peterkin, M. & Fraser, R.H. (1997) Comparison of Fy(b) status as determined serologically and genetically. Transfusion Medicine, 7, 135-141.
13. b allele predicting Arg89Cys in the Duffy glycoprotein. British Journal of Haematology, 103, 1184-1191.
14. *B allele of the Duffy chemokine receptor gene is associated with an altered erythrocyte phenotype. Blood, 92, 2237-2243.
15. Peiper, S.C., Wang, Z.X., Neote, K., Martin, A.W, Showell, H.J., Conklyn, M.J., Ogborne, K., Hadley, T.J., Lu, Z.H., Hesselgesser, J. & Horuk, E. (1995) The Duffy antigen/receptor for chemokines (DARC) is expressed in endothelial cells of Duffy negative individuals who lack the erythrocyte receptor. Journal of Experimental Medicine, 181, 1311-1317.
16. Pogo, A.O. & Chaudhuri, A. (1997) The Duffy blood group system and its extensions in nonhuman primates. Molecular Biology and Evolution of Blood Group and MHC Antigens in Primates (ed. by A. Blancher, J. Klein & W.W. Socha), pp. 219-235. Springer-Verlag, Berlin.
17. Pogo, A.O. & Chaudhuri, A. (2000) The Duffy protein: a malarial and chemokine receptor. Seminars in Hematology, in press.
18. Sambrook, J., Fritsch, E.F. & Maniatis, T. (1989) Molecular Cloning: a Laboratory Manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
19. Sandler, S.G., Kravitz, C., Sharon, R., Hermoni, D., Ezekiel, E. & Cohen, T. (1979) The Duffy blood group system in Israeli Jews and Arabs. Vox Sanguinis, 37, 41-46.
20. Tournamille, C., Colin, Y., Cartron, J.P. & Le Van Kim, C. (1995) Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nature Genetics, 10, 224-228.
21. x individuals. Blood, 92, 2147-2156.
22. Yazdanbakhsh, K., Rios, M., Storry, J.R., Kosower, N., Parasol, N., Chaudhuri, A. & Reid, M.E. (2000) Molecular mechanisms that lead to reduced expression of Duffy antigens. Transfusion, in press.