一种与乳糜泻相关的HLA - D区域限制性片段长度多态性。
An HLA-D region restriction fragment length polymorphism associated with celiac disease.
作者信息
Howell M D, Austin R K, Kelleher D, Nepom G T, Kagnoff M F
出版信息
J Exp Med. 1986 Jul 1;164(1):333-8. doi: 10.1084/jem.164.1.333.
Abstract
This study is the first to describe a molecular marker that distinguishes the celiac disease HLA-D region haplotype from a serologically identical haplotype in unaffected controls. Using a DQ beta chain cDNA probe and the restriction endonuclease Rsa I, we have detected a polymorphic 4.0 kb fragment which, in DQw2 individuals, is associated with a 40-fold increased relative risk of developing celiac disease. This finding should permit the identification of the celiac disease susceptibility gene(s) in the HLA-D region and facilitate a more precise dissection of the molecular and immunogenetic mechanisms involved in the pathogenesis of that disease.
摘要
本研究首次描述了一种分子标记物，该标记物可区分乳糜泻的HLA - D区域单倍型与未受影响对照中血清学相同的单倍型。使用DQβ链cDNA探针和限制性内切酶Rsa I，我们检测到一个多态性的4.0 kb片段，在DQw2个体中，该片段与患乳糜泻的相对风险增加40倍相关。这一发现应有助于鉴定HLA - D区域中的乳糜泻易感基因，并有助于更精确地剖析该疾病发病机制中涉及的分子和免疫遗传机制。
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