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Molecular bases of the antigens of the Lutheran blood group system
Author(s) -
Crew Vanja Karamatic,
Green Carole,
Daniels Geoff
Publication year - 2003
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/j.0041-1132.2003.00600.x
Subject(s) - point mutation , antigen , microbiology and biotechnology , allele , genetics , biology , phenotype , gene , exon , genomic dna , mutation
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 . STUDY DESIGN AND 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. CONCLUSION: The results revealed the genetic background of 11 Lutheran antigens and suggested their placement on the Lutheran glycoprotein.