Molecular bases of the antigens of the Lutheran blood group system.
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.
Crew
Vanja Karamatic
VK
Bristol Institute for Transfusion Sciences, Bristol, UK. vanja.crew@nbs.nhs.uk
Green
Carole
C
Daniels
Geoff
G
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
D008188:Lutheran Blood-Group System