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Molecular Screening for Vel- Blood Donors in Southwestern Germany

Wieckhusen, Carola ; Rink, Gabi ; Scharberg, Erwin A. ; Rothenberger, Sina ; Kömürcü, Naime ; Bugert, Peter

In: Transfusion Medicine and Hemotherapy, 42 (2015), Nr. 6. pp. 356-360. ISSN 1660-3796 (Druck-Ausg.), 1660-3818 (Online-Ausg.)

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Official URL: https://doi.org/10.1159/000440791
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Abstract

BACKGROUND: The SMIM1 protein carries the Vel blood group antigen, and homozygosity for a 17 bp deletion in the coding region of the SMIM1 gene represents the molecular basis of the Vel- blood group phenotype. We developed PCR-based methods for typing the SMIM1 17 bp (64-80del) gene deletion and performed a molecular screening for the Vel- blood type in German blood donors.

METHODS: For SMIM1 genotyping, TaqMan-PCR and PCRSSP methods were developed and validated using reference samples. Both methods were used for screening of donors with blood group O from southwestern Germany. Heterozygotes and homozygotes for the SMIM1 64-80del allele were serologically typed for the Vel blood group antigen. In addition, the rs1175550 SNP in SMIM1 was typed and correlated to the results of the phenotyping.

RESULTS: Both genotyping methods, TaqMan-PCR and PCR-SSP, represent reliable methods for the detection of the SMIM1 64-80del allele. Screening of 10,598 blood group O donors revealed 5 individuals homozygous for the deletional allele. They were confirmed Vel- by serological typing. Heterozygotes for the 64-80del allele showed different antigen expressions ranging from very weak to regular positive.

CONCLUSION: Molecular screening of blood donors for the Vel- blood type is feasible and avoids the limitations of serological typing which might show false-negative results with heterozygous individuals. The identification of Vel- blood donors significantly contributes to the adequate blood supply of patients with anti-Vel.

Document type: Article
Journal or Publication Title: Transfusion Medicine and Hemotherapy
Volume: 42
Number: 6
Publisher: Karger
Place of Publication: Basel ; Freiburg
Date Deposited: 16 Oct 2019 11:32
Date: 2015
ISSN: 1660-3796 (Druck-Ausg.), 1660-3818 (Online-Ausg.)
Page Range: pp. 356-360
Faculties / Institutes: Medizinische Fakultät Mannheim > Institut für Transfusionsmedizin und Immunologie
DDC-classification: 610 Medical sciences Medicine
Uncontrolled Keywords: SMIM1 genotyping , Vel antigen , PCR-SSP , TaqMan-PCR , molecular blood typing
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.
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