Reohr P B, Mangklabruks A, Janiga A M, DeGroot L J, Benjasuratwong Y, Soltani K
Section of Dermatology, University of Chicago Pritzker School of Medicine.
J Am Acad Dermatol. 1992 Aug;27(2 Pt 1):189-93. doi: 10.1016/0190-9622(92)70168-f.
The association of pemphigus vulgaris with the HLA serotypes, DR4 and DRw6, and with the DQ-beta chain alleles, DQw1 and DQw3, suggests that there is a genetic predisposition to this disease. However, familial cases of pemphigus vulgaris are exceedingly rare.
We studied two siblings with pemphigus vulgaris and three unaffected family members to determine whether an HLA allele was associated with the development of pemphigus vulgaris in this family.
We utilized restriction fragment length polymorphism methods using the HLA-DR beta 1, HLA-DQ alpha, and HLA-DW beta 1 genes as cDNA probes.
We found that the affected siblings share the haplotype HLA-DR4 and the DQw.3.2 allele.
Our findings of gene sharing among siblings with pemphigus vulgaris lend support to previous studies of unrelated Caucasian patients, which implicated DQw3 allele polymorphisms in conferring susceptibility to pemphigus.
寻常型天疱疮与 HLA 血清型 DR4 和 DRw6，以及 DQ-β链等位基因 DQw1 和 DQw3 相关联，这表明该病存在遗传易感性。然而，寻常型天疱疮的家族病例极为罕见。
我们研究了两名患有寻常型天疱疮的兄弟姐妹以及三名未患病的家庭成员，以确定该家族中寻常型天疱疮的发病是否与某个 HLA 等位基因相关。
我们使用 HLA-DRβ1、HLA-DQα和 HLA-DWβ1 基因作为 cDNA 探针，采用限制性片段长度多态性方法。
我们发现患病的兄弟姐妹共享单倍型 HLA-DR4 和 DQw.3.2 等位基因。
我们在患有寻常型天疱疮患者的兄弟姐妹中发现基因共享，这支持了之前对无关白种人患者的研究，这些研究表明 DQw3 等位基因多态性与天疱疮易感性有关。
