An HLA-B null allele (B*0808N) caused by a nucleotide deletion in exon 3, found in the family of a bone marrow transplant recipient

作者：Carter V^*; Dunn PPJ; Cavanagh G; Day S; Ross J; Chapman C

来源：Tissue Antigens, 2000, 55(1): 61-64.

DOI：10.1034/j.1399-0039.2000.550111.x

• HLA-B*0808N
• nucleotide deletion
• null allele
• serology
• PCR-SBT
• PCR-SSP

We have identified a variant HLA-B allele, B*0808N, segregating through two generations of healthy individuals, whilst HLA typing the family of a bone marrow patient. Serological typing identified a disparity between the father (Al, A3 B7 DR7) and the brother (Al, H2 B56 DR1, DR7) of the patient. Low/medium resolution polymerase chain reaction using sequence-specific primers (PCR-SSP) revealed a B*08 allele undetectable by serological methods. High resolution DNA typing by polymerase chain reaction-sequencing based typing (PCR-SBT), revealed a nucleotide deletion at position 131 (C) in exon 3, the only difference between the new allele and B*0801. The deletion results in a frame shift in the protein coding sequence, introducing a premature termination codon (TGA) in exon 4. Although a B*08 allele is present in these individuals, the deletion prevents correct expression of the antigen on the cell surface.

• 出版日期2000-1