自身免疫原性HLA - DRB1*0301等位基因（DR3）可在HLA - B8、DR3、Dw24单倍型以及B18、DR3、Dw25单倍型的DRB1非编码区得以区分。

Autoimmunogenic HLA-DRB1*0301 allele (DR3) may be distinguished at the DRB1 non-coding regions of HLA-B8,DR3,Dw24 and B18,DR3,Dw25 haplotypes.

作者信息

Segurado O G, Iglesias-Casarrubios P, Martinez-Laso J, Corell A, Martin-Villa J M, Arnaiz-Villena A

机构信息

Department of Immunology, Hospital 12 de Octubre, Madrid, Spain.

出版信息

Mol Immunol. 1991 Jan-Feb;28(1-2):189-92. doi: 10.1016/0161-5890(91)90105-s.

DOI:10.1016/0161-5890(91)90105-s

PMID:1672728

Abstract

A novel TaqI restriction fragment length polymorphism (RFLP) of 4.15 kb is reported using a DR beta probe (pRTV1). This fragment corresponds to the DRB1 locus and allows the subdivision at the DNA level of the DRB10301 allele (DR3 antigen), which had not previously been reported. Both splits also distinguish each of the two DR3-bearing extended haplotypes (HLA-B8,SCO1,DR3,DQw2,Dw24 and B18,F1C30,DR3,DQw2,Dw25) found associated to several autoimmune diseases as insulin-dependent diabetes mellitus (IDDM), systemic lupus erythematosus (SLE) and myasthenia gravis. The fact that no polymorphism in the DRB10301 coding DNA sequence has been detected indicates that DRB1*0301 intronic, regulatory of neighbouring sequences might also contribute to differential disease associations (and pathogenic mechanisms) found linked to each of the two DR3-bearing haplotypes, i.e. IDDM and B8,DR3,Dw24 in North European/American Caucasoids vs IDDM and B18,DR3,Dw25 in Mediterraneans; SLE and B8,DR3,Dw24 in children vs SLE and B18,DR3,Dw25 in Spanish adults.

摘要

报道了使用DRβ探针（pRTV1）的一种新型4.15kb的TaqI限制性片段长度多态性（RFLP）。该片段对应于DRB1基因座，能够在DNA水平上对DRB10301等位基因（DR3抗原）进行细分，此前尚未有相关报道。这两种分型还能区分与几种自身免疫性疾病相关的两种携带DR3的扩展单倍型（HLA - B8，SCO1，DR3，DQw2，Dw24和B18，F1C30，DR3，DQw2，Dw25），如胰岛素依赖型糖尿病（IDDM）、系统性红斑狼疮（SLE）和重症肌无力。未在DRB10301编码DNA序列中检测到多态性这一事实表明，DRB1*0301内含子对相邻序列的调控可能也有助于与两种携带DR3的单倍型相关的不同疾病关联（和致病机制），即北欧/美国白种人中的IDDM和B8，DR3，Dw24与地中海人中的IDDM和B18，DR3，Dw25；儿童中的SLE和B8，DR3，Dw24与西班牙成年人中的SLE和B18，DR3，Dw25。