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Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups.

Journal article
Authors P Fernandez-Mateos
A Cailleau
S Henry
M Costache
A Elmgren
Lola Svensson
Göran Larson
Bo Samuelsson
R Oriol
R Mollicone
Published in Vox sanguinis
Volume 75
Issue 1
Pages 37-46
ISSN 0042-9007
Publication year 1998
Published at Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
Pages 37-46
Language en
Keywords ABO Blood-Group System, biosynthesis, Alleles, Amino Acid Substitution, Animals, COS Cells, Chromosomes, Human, Pair 19, genetics, Evolution, Molecular, Female, Fucosyltransferases, genetics, Humans, India, Male, Oligosaccharides, metabolism, Pedigree, Phenotype, Point Mutation, Recombinant Fusion Proteins, biosynthesis, Reunion, Saliva, immunology, Salivary Proteins and Peptides, biosynthesis, immunology, secretion, Sequence Deletion, Transfection
Subject categories Clinical chemistry


OBJECTIVE: Definition of the molecular basis of the Reunion and the Bombay red cell and salivary H-deficient phenotypes. METHODS: Sequence and expression of FUT1 and FUT2 genes from H-deficient individuals. Family segregation analysis of the mutations responsible for the fucosyltransferase defects of H, secretor and Lewis systems. RESULTS: The Indian red cell H null Bombay phenotype depends on a new mutation of the FUT1 gene. T725-->G changing Leu242-->Arg. Their salivary nonsecretor phenotype is secondary to a complete deletion of the FUT2 gene. The red cell H weak Reunion phenotype depends on another new mutation of FUT1, C349-->T which induces a change of His117-->Tyr. Their salivary nonsecretor phenotype is due to the known Caucasian inactivating mutation G428-->A. CONCLUSION: Single prevalent FUT1 and FUT2 point mutations and a deletion are responsible for the Indian Bombay H null and the Reunion H weak phenotypes found on Reunion island. This is in contrast with other H-deficient phenotypes where sporadic nonprevalent inactivating mutations are the rule.

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