Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Wagner, T; Vadon, M; Staudacher, E; Schmarda, A; Gassner, C; Helmberg, W; Lanzer, G; Flegel, WA; Wagner, FF.
A new h allele detected in Europe has a missense mutationin alpha(1,2)-fucosyltransferase motif II.
Transfusion. 2001; 41(1):31-38
Doi: 10.1046%2Fj.1537-2995.2001.41010031.x
Web of Science
PubMed
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- Führende Autor*innen der Med Uni Graz
- Wagner Thomas
- Co-Autor*innen der Med Uni Graz
- Helmberg Wolfgang
- Lanzer Gerhard
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- Abstract:
- 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 FUT1 (H:). STUDY DESIGN AND METHODS: The FUT1 gene of an Austrian proband with the Bombay phenotype was characterized by nucleotide sequencing of the full-length coding sequence. A PCR method using sequence-specific primers for FUT2 genotyping in whites was developed. The plasma alpha(1,2)-fucosyltransferase activity was determined. The distribution of the mutations underlying 24 h alleles and 7 se alleles was analyzed. RESULTS: The proband carried a new h allele. Two nucleotide changes, G785A and C786A, in codon 262 of the FUT1 gene resulted in the replacement of serine by lysine. No alpha(1,2)-fucosyltransferase activity was detected in the proband's plasma. The proband was homozygous for the seG428A allele. Six of 17 missense mutations in nonfunctional h and se alleles occurred in highly conserved fucosyltransferase motifs. No loss-of-function mutation was observed in the aminoterminal section encompassing the transmembraneous helix. CONCLUSION: The missense mutation S262K in the FUT1 gene caused the loss of H transferase activity. The analysis of the distribution of mutations in nonfunctional FUT1 and FUT2 genes can point to functionally important domains in the H transferase.
- Find related publications in this database (using NLM MeSH Indexing)
- ABO Blood-Group System - genetics
- Alleles - genetics
- Amino Acid Motifs - genetics
- Amino Acid Sequence - genetics
- Austria - genetics
- Base Sequence - genetics
- Conserved Sequence - genetics
- DNA Primers - genetics
- Female - genetics
- Frameshift Mutation - genetics
- Fucosyltransferases - blood
- Genotype - blood
- Humans - blood
- Molecular Sequence Data - blood
- Mutation, Missense - blood
- Phenotype - blood
- Polymerase Chain Reaction - blood