Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Hosseini-Maaf, B; Irshaid, NM; Hellberg, A; Wagner, T; Levene, C; Hustinx, H; Steffensen, R; Chester, MA; Olsson, ML.
New and unusual O alleles at the ABO locus are implicated in unexpected blood group phenotypes.
Transfusion. 2005; 45(1):70-81
Doi: 10.1111/j.1537-2995.2005.04195.x
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Wagner Thomas
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- Abstract:
- BACKGROUND: In the ABO blood group system mutations in the A gene may lead to weak A subgroups owing to a dysfunctional 3-alpha-N-acetylgalactosaminyltransferase. STUDY DESIGN AND METHODS: Blood and DNA were investigated to correlate weak A phenotypes with genotype, and an overrepresentation of the infrequent O2 allele was observed. Consequently, 57 available O2 alleles were examined in detail. RESULTS: Two new O2 alleles were identified having mutations resulting in Gly229Asp with or without Arg217Cys. A recently described O2 variant (488C>T; Thr163Met) was also found. Surprisingly, both the original and the variant O2 alleles were associated with either O or Aweak phenotypes. Three novel O alleles surfaced in six other samples with suspected A subgroups. These were A1-like alleles having nonsense mutations causing premature truncation at codons 56, 107, or 181. A second example of the rare O3 allele was also identified. A newly described O1 allele having 768C>A was found to be the third most frequent O allele among Swedish donors. Of the five novel O alleles, three were incorrectly interpreted as A1 following routine ABO genotyping. CONCLUSION: Apparent O alleles lacking 261delG may cause weak A expression on red blood cells and/or inhibit anti-A production. A hypothesis that exchange of genetic material between principally dissimilar O alleles during mitosis ("autologous chimerism") restores glycosyltransferase activity in some cells would explain this interesting phenomenon.
- Find related publications in this database (using NLM MeSH Indexing)
- ABO Blood-Group System - genetics
- Alleles - genetics
- Base Sequence - genetics
- Chromosome Mapping - genetics
- Exons - genetics
- Genotype - genetics
- Humans - genetics
- Molecular Sequence Data - genetics
- Mutation - genetics
- Phenotype - genetics
- Polymorphism, Genetic - genetics
- Sequence Analysis, DNA - genetics