eprintid: 27236
rev_number: 22
eprint_status: archive
userid: 1249
dir: disk0/00/02/72/36
datestamp: 2019-10-16 11:32:52
lastmod: 2020-02-19 07:57:11
status_changed: 2019-10-16 11:32:52
type: article
metadata_visibility: show
creators_name: Wieckhusen, Carola
creators_name: Rink, Gabi
creators_name: Scharberg, Erwin A.
creators_name: Rothenberger, Sina
creators_name: Kömürcü, Naime
creators_name: Bugert, Peter
title: Molecular Screening for Vel- Blood Donors in Southwestern Germany
subjects: ddc-610
divisions: i-63400
keywords: SMIM1 genotyping , Vel antigen , PCR-SSP , TaqMan-PCR , molecular blood typing
note: 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.
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.
date: 2015
publisher: Karger
id_scheme: DOI
id_number: 10.11588/heidok.00027236
official_url: https://doi.org/10.1159/000440791
ppn_swb: 168007928X
own_urn: urn:nbn:de:bsz:16-heidok-272365
language: eng
bibsort: WIECKHUSENMOLECULARS2015
full_text_status: public
publication: Transfusion Medicine and Hemotherapy
volume: 42
number: 6
place_of_pub: Basel ; Freiburg
pagerange: 356-360
issn: 1660-3796 (Druck-Ausg.), 1660-3818 (Online-Ausg.)
citation:   Wieckhusen, Carola ; Rink, Gabi ; Scharberg, Erwin A. ; Rothenberger, Sina ; Kömürcü, Naime ; Bugert, Peter  (2015) Molecular Screening for Vel- Blood Donors in Southwestern Germany.  Transfusion Medicine and Hemotherapy, 42 (6).  pp. 356-360.  ISSN 1660-3796 (Druck-Ausg.), 1660-3818 (Online-Ausg.)     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/27236/1/440791.pdf