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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

Lookup NU author(s): Gary Cavanagh

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Abstract

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.

Publication metadata

Author(s): Carter V, Dunn PPJ, Cavanagh G, Day S, Ross J, Chapman C

Publication type: Article

Publication status: Published

Journal: Tissue Antigens

Year: 2000

Volume: 55

Issue: 1

Pages: 61-64

ISSN (print): 0001-2815

ISSN (electronic): 1399-0039

Publisher: Wiley-Blackwell

URL: http://dx.doi.org/10.1034/j.1399-0039.2000.550111.x

DOI: 10.1034/j.1399-0039.2000.550111.x

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