Molecular screening for vel- blood donors in Southwestern Germany

• Verfasst von: Wieckhusen, Carola [VerfasserIn]
• Verfasst von: Bugert, Peter [VerfasserIn]
• Titel: Molecular screening for vel- blood donors in Southwestern Germany
• Verf.angabe: Carola Wieckhusen, Gabi Rink, Erwin A. Scharberg, Sina Rothenberger, Naime Kömürcü, Peter Bugert
• E-Jahr: 2015
• Jahr: November 3, 2015
• Umfang: 5 S.
• Fussnoten: Gesehen am 06.07.2017
• Titel Quelle: Enthalten in: Transfusion medicine and hemotherapy
• Ort Quelle: Basel : Karger, 2003
• Jahr Quelle: 2015
• Band/Heft Quelle: 42(2015), 6, Seite 356-360
• ISSN Quelle: 1660-3818
• DOI: doi:10.1159/000440791
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1560528885

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 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.