Immunogenetics of a new HLA-B null allele, HLA-B*4423N

被引：2

作者：

Hammond, L ^{[1
]}

Street, J ^{[1
]}

Downing, J ^{[1
]}

Thompson, J ^{[1
]}

Darke, C ^{[1
]}

机构：

[1] Welsh Blood Serv, Welsh Transplantat & Immunogenet Lab, Pontyclun CF72 9WB, Wales

来源：

EUROPEAN JOURNAL OF IMMUNOGENETICS | 2003年 / 30卷 / 06期

关键词：

D O I：

10.1111/j.1365-2370.2003.00429.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The second example of an HLA-B*44 null allele (B*4423N) was identified by discrepancies between serological and polymerase chain reaction-sequence-specific primer (PCR-SSP) typing in two north-western European Caucasoid unrelated stem cell donor volunteers. HLA-B*4423N was identical to B*440201 except for a single nucleotide substitution at position 493 in exon 3, resulting in a premature stop codon at bases 493-495 (TAG rather than CAG at codon 141). As expected, comprehensive serological testing using 54 antisera, directed towards B44 or Bw4, failed to identify the HLA-B44 (Bw4) specificity. The B*4423N-bearing haplotype was identified as A*0201, Cw*0501, DRB1*0408, DRB4*01, DQA1*03, DQB1*0304 and the frequency of B*4423N estimated as 0.00006 (carriage frequency 0.0121%) in 16 533 subjects resident in Wales.

引用

页码：385 / 386

页数：2

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