Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
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SHR Neuro Krebs Kardio Lipid Stoffw Microb
Matzhold, EM; Drexler, C; Wagner, T.
A novel ABO O allele caused by a large deletion covering two exons of the ABO gene identified in a Caucasian family showing discrepant ABO blood typing results.
Transfusion. 2016; 56(11):2739-2743
Doi: 10.1111/trf.13768
Web of Science
PubMed
FullText
FullText_MUG
- Führende Autor*innen der Med Uni Graz
- Matzhold Eva-Maria
- Co-Autor*innen der Med Uni Graz
- Drexler-Helmberg Camilla
- Wagner Thomas
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- Abstract:
- The presence of ABO subgroup alleles and unusual O alleles often is associated with discrepant serologic findings in ABO blood group typing. In the ABO gene of a Caucasian female and her daughters who had aberrant ABO phenotypes, a novel ABO O allele characterized by a large deletion that included two exons was identified. ABO phenotypes were determined by standard agglutination tests and adsorption-elution studies. Allele-specific sequencing analyses of the ABO gene as well as messenger RNA transcripts were carried out. All three samples showed the same discrepant ABO blood typing results lacking A and B antigens, indicating Blood Group O, whereas anti-A1 and anti-A2 isoagglutinins were not detectable in reverse typing. Analyses of the ABO gene revealed a novel allele characterized by a deletion of 2169 base pairs, including sequences of Intron 1, Exon 2, Intron 2, Exon 3, and Intron 3. Exon 1 was directly joined to Exon 4 in the ABO transcript. Because the novel allele was associated with a well-described O allele, the absence of A-antigens in the inherited ABO subtype phenotype may be due to the identified mutation affecting the transmembrane-spanning domain of the encoded protein and impairing the transferase activity. © 2016 AABB.
- Find related publications in this database (using NLM MeSH Indexing)
- ABO Blood-Group System - genetics
- Alleles -
- Blood Grouping and Crossmatching - methods
- European Continental Ancestry Group -
- Exons -
- Family -
- Female -
- Humans -
- Mutation -
- Phenotype -
- Sequence Deletion -