一种血清学检测不到的HLA - DQA1等位基因的全长cDNA核苷酸序列：HLA - DQA1*“LA”

Full-length cDNA nucleotide sequence of a serologically undetectable HLA-DQA1 allele: HLA-DQA1*"LA".

作者信息

Lardy N M, Otting N, van der Horst A R, Bontrop R E, de Waal L P

机构信息

Department of HLA Diagnostics, Central Laboratory of the Dutch Red Cross Blood Transfusion Service, Amsterdam, The Netherlands.

出版信息

Tissue Antigens. 1997 Oct;50(4):334-9. doi: 10.1111/j.1399-0039.1997.tb02883.x.

DOI:10.1111/j.1399-0039.1997.tb02883.x

PMID:9349615

Abstract

This study describes the characterization of a serological HLA-DQ"blank" specificity that segregates with the HLA-A2, -B7, -DR14, -DR52 haplotype. Although conventional serological typing techniques could not detect an HLA-DQ product on the haplotype positive for the HLA-DQ"blank" specificity, sequence-specific oligonucleotide (SSO) dot-blot analysis demonstrated the presence of the HLA-DQA101 and HLA-DQB105 alleles. Full-length cDNA nucleotide sequence analysis revealed that the HLA-DQB1 allele that segregated with the HLA-DQ"blank" specificity was identical to HLA-DQB105031. As for the HLA DQA1 allele, one nucleotide substitution distinguished the HLA-DQA1 "blank" allele from HLA-DQA10104. In exon 2 at nucleotide position 304 a C was substituted for a T (Arg-->Cys). Pending official recognition by the WHO Nomenclature Committee, this HLA-DQA1 "blank" allele is termed HLA-DQA1*"LA". Furthermore, it is postulated that the introduction of cysteine at amino acid position 102 abrogates the classical HLA-DQ1 specificity.

摘要

本研究描述了一种血清学HLA-DQ“空白”特异性的特征，该特异性与HLA-A2、-B7、-DR14、-DR52单倍型连锁。尽管传统血清学分型技术无法在HLA-DQ“空白”特异性阳性的单倍型上检测到HLA-DQ产物，但序列特异性寡核苷酸（SSO）斑点印迹分析显示存在HLA-DQA101和HLA-DQB105等位基因。全长cDNA核苷酸序列分析表明，与HLA-DQ“空白”特异性连锁的HLA-DQB1等位基因与HLA-DQB105031相同。至于HLA DQA1等位基因，一个核苷酸取代将HLA-DQA1“空白”等位基因与HLA-DQA10104区分开来。在第2外显子的核苷酸位置304处，一个C取代了一个T（Arg→Cys）。在世界卫生组织命名委员会正式认可之前，这种HLA-DQA1“空白”等位基因被称为HLA-DQA1*“LA”。此外，据推测，在氨基酸位置102处引入半胱氨酸会消除经典的HLA-DQ1特异性。