title: STAR: a novel high-prevalence antigen in the Scianna blood group system.
abstract: BACKGROUND
  More than 20 years ago, a proband was described whose red blood cells (RBCs) typed Sc:1,-2,3. His serum sample contained an immunoglobulin G alloantibody that reacted with all RBCs tested except his own, his brother's, and those with the Sc:-1,-2 phenotype. Cloning of the SC gene allowed determination of the molecular basis associated with this novel high-prevalence antigen.
  
  
  METHODS
  Samples from frozen storage were obtained from the proband, his serologically matched brother, and 15 serologically mismatched family members. DNA was extracted, and amplified products from all 11 SC (ERMAP) exons and their flanking regions of the proband were sequenced.
  
  
  RESULTS
  A single-nucleotide mutation was detected (139G>A) in Exon 3 that is predicted to encode a change of Amino Acid 47 from glutamic acid to lysine. The sequence analyses on samples from family members were as expected.
  
  
  CONCLUSIONS
  The absence of the high-prevalence antigen STAR detected by the proband's antibody is likely associated with lysine at Position 47 of the Sc glycoprotein. This amino acid change is located on the extracellular portion of HERMAP, 10 residues upstream from the polymorphism associated with Sc1 and Sc2 (Gly57Arg). STAR expands the Sc blood group system to five antigens and has been assigned the ISBT Number 013005 (SC5).
authors.affiliation: New York Blood Center, New York, New York 10021, USA.
authors.forename: Kim
authors.initials: K
authors.lastname: Hue-Roye
authors.forename: Asok
authors.initials: A
authors.lastname: Chaudhuri
authors.forename: Randall W
authors.initials: RW
authors.lastname: Velliquette
authors.forename: Susan
authors.initials: S
authors.lastname: Fetics
authors.forename: Rebecca
authors.initials: R
authors.lastname: Thomas
authors.forename: Mary
authors.initials: M
authors.lastname: Balk
authors.forename: Franz F
authors.initials: FF
authors.lastname: Wagner
authors.forename: William A
authors.initials: WA
authors.lastname: Flegel
authors.forename: Marion E
authors.initials: ME
authors.lastname: Reid
mesh_terms: D000954:Antigens, Surface / Q000235:genetics; D001324:Autoantigens; D001789:Blood Group Antigens / Q000235:genetics*; D000071797:Butyrophilins; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D055517:snRNP Core Proteins
chemical_list: D000954:Antigens, Surface; D001324:Autoantigens; D001789:Blood Group Antigens; D000071797:Butyrophilins; D008565:Membrane Proteins; D017411:Ribonucleoproteins, Small Nuclear; C472715:scianna antigens; D055517:snRNP Core Proteins