Detection of disease-specific restriction fragment length polymorphisms in pemphigus vulgaris linked to the DQw1 and DQw3 alleles of the HLA-D region.
Detection of disease-specific restriction fragment length polymorphisms in pemphigus vulgaris linked to the DQw1 and DQw3 alleles of the HLA-D region.
复制标题
检测寻常型天疱疮中与 HLA-D 区域的 DQw1 和 DQw3 等位基因相关的疾病特异性限制性片段长度多态性。
DOI：
10.1073/pnas.84.18.6542
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发表时间：
1987
影响因子：
11.1
通讯作者：
K. Holubar
中科院分区：
文献类型：
--
作者：
F. Szafer;C. Brautbar;E. Tzfoni;G. Frankel;L. Sherman;I. Cohen;S. Hacham‐Zadeh;W. Aberer;G. Tappeiner;K. Holubar
以色列德系犹太人和非德系犹太人以及奥地利非犹太人患者中的寻常型天疱疮与人类白细胞抗原-D区第二类基因的DR4和DR6等位基因密切相关。用DQβ、DQα和DRβ基因探针进行限制性片段长度多态性分析。与DQβ探针的杂交鉴定了PVU II、BamHI和EcoRV片段，这些片段绝对区分了寻常型天疱疮患者和健康DR-、DQ-和种族匹配的对照。相比之下，DQα和DRβ探针未能识别疾病特异性限制性片段长度多态片段。这些研究表明，寻常型天疱疮患者携带的DQw1和DQw3基因多态性可能与疾病的易感性直接相关，也可能与易感基因本身紧密连锁。据我们所知，这是第一个与自身免疫性疾病易感性高度相关的人类白细胞抗原限制性片段长度多态性的例子。
Pemphigus vulgaris in Israeli Ashkenazi and non-Ashkenazi Jews and in Austrian non-Jewish patients is strongly associated with the DR4 and DRw6 alleles of the HLA-D region class II genes. Restriction fragment length polymorphism analysis was undertaken with DQ beta, DQ alpha, and DR beta cDNA probes. Hybridization with the DQ beta probe identifies Pvu II, BamHI, and EcoRV fragments that absolutely discriminate pemphigus vulgaris patients from healthy DR-, DQ-, and ethnic-matched controls. In contrast the DQ alpha and DR beta probes failed to identify disease-specific restriction fragment length polymorphism fragments. These studies indicate that DQw1 and DQw3 polymorphisms carried by pemphigus vulgaris patients may be directly involved in predisposition to the disease or may be tightly linked to the susceptibility gene itself. To our knowledge, this is the first example of an HLA restriction fragment length polymorphism that is highly associated with susceptibility to autoimmune disease.