caa a22 4500 467907706 CHVBK 20180406152839.0 cr unu---uuuuu 170328e20061101xx s 000 0 eng 10.1007/s00251-006-0158-6 doi (NATIONALLICENCE)springer-10.1007/s00251-006-0158-6 Aberrant expression of HLA-B*3565Q is associated with a disrupted disulfide bond [Elektronische Daten] [Holger-Andreas Elsner, Peter Horn, Constanze Schoenemann, Wolfgang Altermann, Rainer Blasczyk] The identification of expression variants is a challenge in HLA diagnostics. We here describe the identification of the novel allele HLA-B*3565Q. The serological HLA class I type, as determined by a lymphocytotoxicity test, was A11,24; B38; Bw4; Cw−; whereas PCR-sequence-specific primers resulted in A*11,*24, B*35,*38; Cw*12, thus suggesting the presence of a nonexpressed B*35 allele. To clarify the lack of serological HLA-B35 reactivity, exons 2 and 3 were sequenced following haplotype-specific amplification. At position 564 from the beginning of the coding region (exon 3), a transversion (C→G) was observed, which, at the amino acid level, results in a substitution from cysteine to tryptophane at position 164 of the mature polypeptide. Because this position is essential for the formation of a disulfide bond linking the cysteine residues at positions 101 and 164, which is strongly conserved in functional class I molecules of vertebrates, the disruption of this bond is very likely to be the reason for the lack of serological detectability. We later found the same novel allele in a second unrelated individual, of whom we were able to establish a lymphoblastoid cell line (B-LCL). Serological testing of this B-LCL indicated a very low aberrant expression of HLA-B*3565Q, which cannot be expected to be detected by standard serology techniques. Springer-Verlag, 2006 HLA-B*3565Q nationallicence SBT nationallicence Sequence nationallicence Disulfide bond nationallicence HLA structure nationallicence Elsner Holger-Andreas Labor Dres. Fenner & Partner, Bergstr. 14, 20095, Hamburg, Germany aut Horn Peter Institute for Transfusion Medicine, Hanover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut Schoenemann Constanze Department of Transfusion Medicine, Humboldt University Berlin Charité, Campus Virchow Klinikum, Berlin, Germany aut Altermann Wolfgang Institute for Medical Immunology, Martin-Luther University Halle, Halle, Germany aut Blasczyk Rainer Institute for Transfusion Medicine, Hanover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut Immunogenetics Springer-Verlag 58/11(2006-11-01), 929-931 0093-7711 58:11<929 2006 58 251 https://doi.org/10.1007/s00251-006-0158-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00251-006-0158-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Elsner Holger-Andreas Labor Dres. Fenner & Partner, Bergstr. 14, 20095, Hamburg, Germany aut NATIONALLICENCE 700 1- Horn Peter Institute for Transfusion Medicine, Hanover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut NATIONALLICENCE 700 1- Schoenemann Constanze Department of Transfusion Medicine, Humboldt University Berlin Charité, Campus Virchow Klinikum, Berlin, Germany aut NATIONALLICENCE 700 1- Altermann Wolfgang Institute for Medical Immunology, Martin-Luther University Halle, Halle, Germany aut NATIONALLICENCE 700 1- Blasczyk Rainer Institute for Transfusion Medicine, Hanover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany aut NATIONALLICENCE 773 0- Immunogenetics Springer-Verlag 58/11(2006-11-01), 929-931 0093-7711 58:11<929 2006 58 251 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer