Bhol K, Udell I, Haider N, Yunis J J, Mohimen A, Neuman R, Grasso C, Ahmed A R, Foster S
Department of Dermatology, Boston Mass. University School of Medicine.
Arch Ophthalmol. 1995 Feb;113(2):202-7. doi: 10.1001/archopht.1995.01100020086034.
To identify the major histocompatibility complex markers and the autoantibody associated with ocular cicatricial pemphigoid (OCP) in a proband, her unaffected cotwin, and the children of the cotwin. Ocular cicatricial pemphigoid is a chronic autoimmune disorder that affects the conjunctiva and other squamous epithelium. It is associated with the major histocompatibility complex class II alleles that are presumed to provide enhanced susceptibility to the disease. We encountered a pair of monozygotic female twins, one of whom has OCP. In addition to totally identical physical appearances since birth, the two sisters have identical blood groups.
The following studies were performed on the patient, her unaffected cotwin sister, and her children: (1) polymorphism of major histocompatibility complex class II genes by DNA typing, (2) sequence analysis of DQ beta gene second and third exons, and (3) serologic evaluation for the presence of anti-basement membrane zone autoantibodies specific for OCP by Western immunoblot with the use of skin and conjunctiva lysates as substrates.
Both monozygotic twins had the same HLA haplotypes. The sequence analysis of the second and third exons of DQ beta genes revealed no significant differences between the proband and her unaffected cotwin. Autoantibodies specific to OCP were detected only in the patient's serum. The serum of the unaffected cotwin and the other relatives did not demonstrate the presence of the OCP autoantibody.
This isolated family study does not support a single-gene theory for the development of OCP. It is most likely due to a multigene effect and associated with environmental factors.
在一名先证者、其未患病的同卵双胞胎以及该同卵双胞胎的子女中，鉴定与瘢痕性类天疱疮（OCP）相关的主要组织相容性复合体标志物和自身抗体。瘢痕性类天疱疮是一种影响结膜和其他鳞状上皮的慢性自身免疫性疾病。它与主要组织相容性复合体II类等位基因相关，这些等位基因被认为会增加患该病的易感性。我们遇到了一对单卵双生女性双胞胎，其中一人患有OCP。除了自出生以来外貌完全相同外，这两姐妹血型也相同。
对患者、其未患病的同卵双胞胎姐妹及其子女进行了以下研究：（1）通过DNA分型检测主要组织相容性复合体II类基因的多态性，（2）对DQβ基因第二和第三外显子进行序列分析，（3）以皮肤和结膜裂解物为底物，通过Western免疫印迹法血清学评估是否存在针对OCP的抗基底膜区自身抗体。
这对单卵双胞胎具有相同的HLA单倍型。DQβ基因第二和第三外显子的序列分析显示，先证者与其未患病的同卵双胞胎之间没有显著差异。仅在患者血清中检测到了针对OCP的自身抗体。未患病的同卵双胞胎和其他亲属的血清中未显示存在OCP自身抗体。
这项单独的家系研究不支持OCP发病的单基因理论。它很可能是由于多基因效应并与环境因素相关。
