MNSs genotyping by MALDI-TOF MS shows high concordance with serology, allows gene copy number testing and reveals new St(a) alleles

Meyer, Stefan and Vollmert, Caren and Trost, Nadine and Sigurdardottir, Sonja and Portmann, Claudia and Gottschalk, Jochen and Ries, Judith and Markovic, Alexander and Infanti, Laura and Buser, Andreas and Amar El Dusouqui, Soraya and Rigal, Emmanuel and Castelli, Damiano and Weingand, Bettina and Maier, Andreas and Mauvais, Simon M. and Sarraj, Amira and Braisch, Monica C. and Thierbach, Jutta and Hustinx, Hein and Frey, Beat M. and Gassner, Christoph. (2016) MNSs genotyping by MALDI-TOF MS shows high concordance with serology, allows gene copy number testing and reveals new St(a) alleles. British Journal of Haematology, 174 (4). pp. 624-636.

Full text not available from this repository.

Official URL: http://edoc.unibas.ch/52187/

Downloads: Statistics Overview


Results of genotyping with true high-throughput capability for MNSs antigens are underrepresented, probably because of technical issues, due to the high level of nucleotide sequence homology of the paralogous genes GYPA, GYPB and GYPE. Eight MNSs-specific single nucleotide polymorphisms (SNP) were detected using matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry (MALDI-TOF MS) in 5800 serologically M/N and S/s pre-typed Swiss blood donors and 50 individuals of known or presumptive black African ethnicity. Comparison of serotype with genotype delivered concordance rates of 99·70% and 99·90% and accuracy of genotyping alone of 99·88% and 99·95%, for M/N and S/s, respectively. The area under the curve of peak signals was measured in intron 1 of the two highly homologous genes GYPB and GYPE and allowed for gene copy number variation estimates in all individuals investigated. Elevated GYPB:GYPE ratios accumulated in several carriers of two newly observed GYP*401 variants, termed type G and H, both encoding for the low incidence antigen St(a). In black Africans, reduced GYPB gene contents were proven in pre-typed S-s-U- phenotypes and could be reproduced in unknown specimens. Quantitative gene copy number estimates represented a highly attractive supplement to conventional genotyping, solely based on MNSs SNPs.
Faculties and Departments:03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Hämatologie > Hämatologie (Passweg)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Hämatologie > Hämatologie (Passweg)
UniBasel Contributors:Buser, Andreas
Item Type:Article, refereed
Article Subtype:Research Article
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:04 Oct 2017 15:26
Deposited On:04 Oct 2017 15:26

Repository Staff Only: item control page