Molecular basis for Rh(null) syndrome: Identification of three new missense mutations in the Rh50 glycoprotein gene

American Journal of Hematology

Volumn 62, Issue 1, 1999, Pages 25-32

  Huang, Cheng Han ^a   Cheng, Guangjie ^a   Liu, Zhi ^a   Chen, Ying ^a   Reid, Marion E ^a   Halverson, Gregory ^a   Okubo, Yasuto ^b  

^a NEW YORK BLOOD CENTER   (United States)

^b SUWA RED CROSS HOSPITAL   (Japan)

Author keywords

Erythrocytes; Genetic defect; Membrane proteins; Rh deficiency syndrome; Suppressor mutations

Indexed keywords

ADENINE; AMINO ACID; ARGININE; GLYCINE; GLYCOPROTEIN; GUANINE; ISOLEUCINE; MESSENGER RNA PRECURSOR; RHESUS ANTIGEN; VALINE;

AMINO ACID SUBSTITUTION; ANTIGEN EXPRESSION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE LOCUS; HEMAGGLUTINATION; HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING; SPHEROCYTOSIS; SYNDROME;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BLOOD PROTEINS; EXONS; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RH-HR BLOOD-GROUP SYSTEM; RNA PRECURSORS; RNA SPLICING;

EID: 0032852384     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199909)62:1<25::AID-AJH5>3.0.CO;2-K     Document Type: Article

References (20)

1. Nash R, Shojania AM. Hematological aspects of Rh deficiency syndrome: a case report and a review of the literature. Am J Hematol 1987;24:267.
2. Race RR, Sanger R. The Rh blood group system. In: Blood Groups in Man. London: Blackwell Scientific Publications; 1975. 200 p.
3. Cherif-Zahar B, Raynal V, Gane P, Mattei M-G, Bailly P, Gibbs B, Colin Y, Cartron J-P. Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. Nat Genet 1996;12:168.
4. Cherif-Zahar B, Matassi G, Raynal V, Gane P, Mempel W, Perez C, Cartron J-P. Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. Blood 1998;92:639.
5. null disease. J Biol Chem 1998;275:2207.
6. null, disease:the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood 1998;92:664.
7. 279→Glu missense mutation in the conserved transmembrane segment. Blood 1998; 92:1776.
8. null blood donor of the regulator type. Blood 1998;91:1458.
9. 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 1992;287:223.
10. Apoil AP, Reid ME, Halverson G, Mouro I, Colin Y, Roubinet F, Cartron J-P, Blancher A. A human monoclonal anti-D antibody which detects a nonconformation-dependent epitope on the RhD protein by immunoblot. Bri J Haematol 1997;98:365.
11. Mallinson G, Anstee DJ, Avent ND, Ridgwell K, Tanner MJA, Daniels GL, Tippett P, von dem Borne AEGKr. Murine monoclonal antibody MB-2D10 recognizes Rh-related glycoproteins in the human red cell membrane. Transfusion 1990;30:222.
12. w-red blood cells:phenotypic homozygosity versus genotypic heterozygosity. Blood 1996;88:2326.
13. Goossens M, Kan YW. DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 1981;76:805.
14. Frohman MA, Dush MK, Martin GR. Rapid production of full-length cDNAs from rare transcripts: amplification uisng a single gene-specific oligohucleotide primer. Proc Natl Acad Sci USA 1988; 85:8998.
15. Huang C-H, Reid ME, Chen Y, Couglan G, Okubo Y. Molecular definition of red cell Rh haplotypes by tightly linked Sph I RFLPs. Am J Hum Genet 1996;58:133.
16. Eyers SAC, Ridgwell K, Mawby WJ, Tanner MJA. Topology and organization of the human Rh (Rhesus) blood group-related polypeptides. J Biol Chem 1994;269:6417.
17. Persson B, Argos P. Prediction of transmembrane segments in proteins utilising multiple sequence alignments. J Mol Biol 1994;237:182.
18. Bowie JU. Helix packing in membrane proteins. J Mol Biol 1997; 272:780.
19. Reed R, Maniatis T. A role of exon sequences and splice-site proximity in splice-site selection. Cell 1986;46:681.
20. Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications for gene expression. Nucleic Acids Res 1987;15:7155.