%0 Journal Article
%@ 1660-3796 (Druck-Ausg.), 1660-3818 (Online-Ausg.)
%A Wieckhusen, Carola
%A Rink, Gabi
%A Scharberg, Erwin A.
%A Rothenberger, Sina
%A Kömürcü, Naime
%A Bugert, Peter
%C Basel ; Freiburg
%D 2015
%F heidok:27236
%I Karger
%J Transfusion Medicine and Hemotherapy
%K SMIM1 genotyping , Vel antigen , PCR-SSP , TaqMan-PCR , molecular blood typing
%N 6
%P 356-360
%R 10.11588/heidok.00027236
%T Molecular Screening for Vel- Blood Donors in Southwestern Germany
%U https://archiv.ub.uni-heidelberg.de/volltextserver/27236/
%V 42
%X 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.
%Z 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.