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Different inactivating mutations in the LU genes of three individuals with the Lutheran‐null phenotype
Author(s) -
Karamatic Crew Vanja,
Mallinson Gary,
Green Carole,
Poole Joyce,
Uchikawa Makoto,
Tani Yoshihiko,
Geisen Christof,
Oldenburg Johannes,
Daniels Geoff
Publication year - 2007
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.1537-2995.2006.01141.x
Subject(s) - exon , null allele , genetics , biology , gene , allele , phenotype , microbiology and biotechnology , mutation
BACKGROUND: The null phenotype of the Lutheran blood group system, Lu null or Lu(a–b–), is characterized by the lack of all Lutheran system antigens. It can arise from three genetic backgrounds: recessive, dominant, or X‐linked. Lu null of the recessive type appears to result from homozygosity for an inactive LU gene. STUDY DESIGN AND METHODS: Three unrelated recessive Lu null individuals were assessed by standard serologic tests. All exons of the LU gene were directly sequenced from amplified genomic DNA. The validity of the observed mutations within the LU gene was confirmed by the use of either restriction enzymes or allele‐specific primers. RESULTS: All three individuals had the serologic characteristics of recessive Lu null . One individual was doubly heterozygous for a nonsense mutation 691C>T in exon 6 (Arg231STOP) and a deletion of LU exons 3 and 4. The other two samples showed homozygous nonsense mutations: one had 711C>A in exon 6 (Cys237STOP) and the other 361C>T in exon 3 (Arg121STOP). CONCLUSIONS: The results revealed four unique genetic backgrounds from three examples of the rare recessive Lu null phenotype, each encoding Lutheran glycoproteins with a disrupted structure.