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

被引:14
作者
Carter, V
Dunn, PPJ
Cavanagh, G
Day, S
Ross, J
Chapman, C
机构
[1] Natl Blood Serv, Newcastle Upon Tyne NE2 4NQ, Tyne & Wear, England
[2] UKTSSA, Bristol, Avon, England
来源
TISSUE ANTIGENS | 2000年 / 55卷 / 01期
关键词
HLA-B*0808N; nucleotide deletion; null allele; serology; PCR-SBT; PCR-SSP;
D O I
10.1034/j.1399-0039.2000.550111.x
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
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.
引用
收藏
页码:61 / 64
页数:4
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