title: Molecular bases of the antigens of the Lutheran blood group system.
abstract: BACKGROUND
  Lutheran is a complex blood group system consisting of 18 identified antigens. There are four pairs of allelic antigens, whereas others are independently expressed antigens of a high frequency. Lutheran antigens are carried by the Lutheran glycoproteins, which are a product of a single gene LU.
  
  
  METHODS
  Genomic DNA from 21 individuals of 12 Lutheran phenotypes was used for PCR amplification of selected LU exons that were directly sequenced and compared to control DNA of a common Lutheran phenotype.
  
  
  RESULTS
  Lutheran phenotypes were mostly caused by single-nucleotide polymorphisms within LU, resulting in single amino acid changes. The following mutations were observed: in LU:-4, G524A, Arg175Gln; in LU:-5, G326A, Arg109His; in LU:-6,9, C824T, Ser275Phe; in LU:-8,14, T611A, Met204Lys; in LU:-13, three point mutations (C1340T, Ser447Leu, C1671T silent mutation for Ser557 and A1742T, Gln581Leu); in LU:-16, C679T, Arg227Cys; in LU:-17, G340A, Glu114Lys; and in LU:-20, C905T, Thr302Met. Two LU:-12 samples had differing results: one individual had a deletion 99GCGCTT, Arg34 and Leu35, whereas the second LU:-12 sample had a point mutation G419A, Arg140Gln.
  
  
  CONCLUSIONS
  The results revealed the genetic background of 11 Lutheran antigens and suggested their placement on the Lutheran glycoprotein.
authors.affiliation: Bristol Institute for Transfusion Sciences, Bristol, UK. vanja.crew@nbs.nhs.uk
authors.forename: Vanja Karamatic
authors.initials: VK
authors.lastname: Crew
authors.forename: Carole
authors.initials: C
authors.lastname: Green
authors.forename: Geoff
authors.initials: G
authors.lastname: Daniels
mesh_terms: D005091:Exons; D006801:Humans; D008188:Lutheran Blood-Group System / Q000737:chemistry / Q000235:genetics*; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary
chemical_list: D008188:Lutheran Blood-Group System