Article
A new h allele detected in Europe has a missense mutationin alpha(1,2)-fucosyltransferase motif II.
Transfusion - 1 Jan 2001
Wagner T, Vadon M, Staudacher E, Schmarda A, Gassner C, Helmberg W, Lanzer G, Flegel W A, Wagner F F
Abstract excerpt
BACKGROUND: The FUT1 gene encodes an alpha(1,2)-fucosyltransferase (H transferase), which determines the blood group H. Nonfunctional alleles of this gene, called h alleles and carrying loss-of-function mutations, are observed in the exceedingly rare Bombay phenotype. Twenty-three distinct h alleles have been characterized at the molecular level in various populations. The FUT2 (SE) gene is highly homologous to...
Topics
- ABO Blood-Group System
- Alleles
- Amino Acid Motifs
- Amino Acid Sequence
- Austria
- Base Sequence
- Conserved Sequence
- DNA Primers
- Female
- Frameshift Mutation
- Fucosyltransferases
- Genotype
- Humans
- Molecular Sequence Data