一个导致自身免疫性疾病的常染色体位点：I型自身免疫性多腺体疾病定位于21号染色体。

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.

作者信息

Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L

机构信息

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

出版信息

Nat Genet. 1994 Sep;8(1):83-7. doi: 10.1038/ng0994-83.

DOI:10.1038/ng0994-83

PMID:7987397

Abstract

Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many other autoimmune diseases, APECED does not show association to specific HLA haplotypes. Unravelling the APECED locus will identify a novel gene outside the HLA loci influencing the outcome of autoimmune diseases. We have assigned the disease locus to chromosome 21q22.3 by linkage analyses in 14 Finnish families. Linkage disequilibrium studies have significantly increased the informativeness of the analyses and helped to locate the critical DNA region for the APECED locus to just 500 kilobases, a much more precise definition than linkage analyses alone could achieve.

摘要

I型自身免疫性多腺体疾病（APECED）是一种常染色体隐性自身免疫性疾病，其特征为内分泌腺功能衰竭的多种不同组合。这种独特的自身免疫性疾病的发病机制尚不清楚；与许多其他自身免疫性疾病不同，APECED与特定的人类白细胞抗原（HLA）单倍型无关联。解析APECED基因座将鉴定出HLA基因座之外影响自身免疫性疾病转归的一个新基因。我们通过对14个芬兰家庭进行连锁分析，将该疾病基因座定位于21号染色体q22.3区域。连锁不平衡研究显著提高了分析的信息量，并有助于将APECED基因座的关键DNA区域定位到仅500千碱基，这一定义比单独的连锁分析更为精确。