Molecular screening for vel- blood donors in Southwestern Germany
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 per...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
November 3, 2015
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| In: |
Transfusion medicine and hemotherapy
Year: 2015, Jahrgang: 42, Heft: 6, Pages: 356-360 |
| ISSN: | 1660-3818 |
| DOI: | 10.1159/000440791 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1159/000440791 Verlag, Volltext: http://www.karger.com.ezproxy.medma.uni-heidelberg.de/Article/Abstract/440791 
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| Verfasserangaben: | Carola Wieckhusen, Gabi Rink, Erwin A. Scharberg, Sina Rothenberger, Naime Kömürcü, Peter Bugert |
| Zusammenfassung: | 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 PCR-SSP 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. |
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| Beschreibung: | Gesehen am 06.07.2017 |
| Beschreibung: | Online Resource |
| ISSN: | 1660-3818 |
| DOI: | 10.1159/000440791 |