Document Detail


SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system.
MedLine Citation:
PMID:  16371048     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: More than 20 years ago, two probands were described whose red blood cells (RBCs) typed Sc:1,-2,3. Their serum samples contained alloantibodies reactive with all RBCs tested except those of the Sc:-1,-2,-3 phenotype. Cloning of the Scianna gene allowed us to determine the molecular bases of these samples. STUDY DESIGN AND METHODS: In a collaborative effort, the two probands' samples and also two Sc:-1,-2,-3 samples were obtained from frozen storage. All 11 SC (ERMAP) exons and their flanking regions were sequenced. RESULTS: The two probands with antibodies to Scianna-related antigens were homozygous, respectively, for an ERMAP(R81Q) allele caused by a G to A substitution at nucleotide 242 in the ERMAP gene and for an ERMAP(H26Y,G35S) allele, in which the G35S substitution was caused by a G to A substitution at nucleotide 103. Two patients with the Sc:-1,-2,-3 phenotype both carried ERMAP(R332X) alleles caused by a C to T substitution at nucleotide 994 that differed at one nucleotide position in the noncoding region of exon 11. In eight samples carrying orphan low-prevalence antigens, no ERMAP variants were detected that could be implicated in Scianna antigen expression. CONCLUSION: SCER and SCAN expanded the Scianna blood group system to seven antigens, have been assigned the ISBT numbers 013.006 (Sc6) and 013.007 (Sc7), and were associated with ERMAP(R81Q) and ERMAP(G35S) proteins, respectively. ERMAP(R332X) is a second molecular basis for the Sc(null) phenotype. The eight low-prevalence antigens By, To(a), Pt(a), Re(a), Je(a), Li(a), SARA, and Sk(a) do not belong to the Scianna blood group system.
Authors:
Willy A Flegel; Qing Chen; Marion E Reid; Judy Martin; Linda A Orsini; Joyce Poole; Marilyn K Moulds; Franz F Wagner
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Transfusion     Volume:  45     ISSN:  0041-1132     ISO Abbreviation:  Transfusion     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-12-22     Completed Date:  2006-01-25     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0417360     Medline TA:  Transfusion     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1940-4     Citation Subset:  IM    
Affiliation:
Department of Transfusion Medicine, University Hospital Ulm, Germany.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Antigens, Surface / immunology
Blood Group Antigens / chemistry,  genetics*,  immunology*
Humans
Isoantibodies
Membrane Proteins / chemistry,  genetics*,  immunology*
Protein Structure, Tertiary
Seroepidemiologic Studies
Grant Support
ID/Acronym/Agency:
HL54459/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Antigens, Surface; 0/Blood Group Antigens; 0/Isoantibodies; 0/Membrane Proteins; 0/Scianna antibody; 0/scianna antigens

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