In: Transfusion Medicine and Hemotherapy, 40 (2013), Nr. 6. pp. 454-458. ISSN 1660-3796 (Druck-Ausg.), 1660-3818 (Online-Ausg.)
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Abstract
BACKGROUND: Discrepant results in antigen and reverse ABO blood typing are often caused by a variant ABO gene. Molecular analysis can help to characterize such variants. Here, we describe the identification of a novel ABO gene variant in a patient with aberrant ABO phenotype and discrepant genotyping results.
METHODS: A patient with discrepant results in automated forward and reverse ABO phenotyping was further investigated by serological (gel and tube technique) and molecular (commercial and inhouse PCR-SSP, DNA sequencing) methods. A PCR-SSP system was established to screen the novel mutation in 1,820 blood donors.
RESULTS: Standard serological tests confirmed blood group O, however, only anti-B isoagglutinins were present. A monoclonal anti-AB antibody detected very weak agglutination in gel technique. Standard ABO genotyping using PCR-SSP led to discrepant results (O1/O1 or O1/A) depending on the test system used. ABO exon re-sequencing identified a novel missense mutation in exon 6 at position 248A>G (Asp83Gly) in the binding region of PCR-SSP primers for the detection of 261G alleles. Blood donors with regular ABO blood groups were all negative for the 248G allele designated Aw34.
CONCLUSION: The novel ABO gene variant Aw34 is associated with very weak A antigen expression and absent anti-A isoagglutinins. The mutation is located in exon 6 close to the O1-specific 261G deletion in the binding region of PCR-SSP primers. Presumably, depending on the primer concentration used in commercial ABO genotyping kits, the mutation could lead to a false-negative reaction.
Document type: | Article |
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Journal or Publication Title: | Transfusion Medicine and Hemotherapy |
Volume: | 40 |
Number: | 6 |
Publisher: | Karger |
Place of Publication: | Basel ; Freiburg |
Date Deposited: | 16 Oct 2019 14:10 |
Date: | 2013 |
ISSN: | 1660-3796 (Druck-Ausg.), 1660-3818 (Online-Ausg.) |
Page Range: | pp. 454-458 |
Faculties / Institutes: | Medizinische Fakultät Mannheim > Institut für Transfusionsmedizin und Immunologie |
DDC-classification: | 610 Medical sciences Medicine |
Uncontrolled Keywords: | ABO phenotyping and genotyping , ABO sequencing , ABO gene variant , PCR-SSP |
Additional Information: | Dieser Beitrag ist aufgrund einer (DFG-geförderten) Allianz bzw. Nationallizenz frei zugänglich. This publication is freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively. |