Description of the first HLA–DRB1 null allele
Copyright policy )Description of the first HLA–DRB1 null allele
We, in this paper, describe the identification of the novel human leukocyte antigen (HLA) blank allele DRB1*0710N that was detected in a male individual of Caucasian origin. The complete HLA class I typing was A*01, A*02, B*18, B*44, DRB1*0710N, DRB1*11, DQB1*02, and DQB1*03. Compared to DRB1*070101, the new variant is characterized by two consecutive nucleotide deletions at positions 175 and 176 of exon 2, leading to a frame shift that results in a stop codon (TAA), 6 bp further downstream. We identified three different possibilities as to which nucleotides were deleted to result in this non-expressed DRB1 allele. To verify the non-expression of the gene, an Epstein-Barr virus (EBV)-transformed B-lymphoblastoid cell line (B-LCL) of the individual was established and analyzed by flow cytometry for the cell surface expression of HLA-DRB1*07. Despite this non-expression of the cell surface protein, transcription of the DRB1*0710N sequence into messenger RNA (mRNA) was demonstrated.
- Hannover Medical School Germany
Male, Herpesvirus 4, Human, Molecular Sequence Data, HLA-DR Antigens, Cell Line, Tumor, Mutation, Humans, Alleles, Cell Line, Transformed, HLA-DRB1 Chains
Male, Herpesvirus 4, Human, Molecular Sequence Data, HLA-DR Antigens, Cell Line, Tumor, Mutation, Humans, Alleles, Cell Line, Transformed, HLA-DRB1 Chains
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