GENETIC SCREENING OF SJOGRENS FOR MUTATION IN TAP-1/2

干燥综合征是一种慢性自身免疫性疾病，身体的 免疫系统对自身作出反应，从而导致常见的症状 口鼻干燥和可能伴随的关节炎。像大多数人一样 自身免疫性疾病，干燥病主要见于女性和 显示出与HLAIl类基因有很强的遗传关联。我们 最近发现了Sjogren‘s的一种表型和功能缺陷 淋巴细胞在纹路中稳定呈现自体多肽的能力 人类白细胞抗原I类分子。可能导致这种缺陷的缺陷基因 可能是Tap-1或Tap-2，这是最近直接发现的两个新基因 位于人类白细胞抗原II类区域内。需要使用TAP-1和TAP-2 I类与相关自体多肽的正确组装。目的 这个小赠款计划是通过以下方式对Sjogren的DNA样本进行基因筛查 变性梯度凝胶电泳法，可能检测到 导致这些ATPase转运体功能缺陷的基因多态性 基因，Tap-1和Tap-2。

Sjogren's syndrome is a chronic autoimmune disease in which the body's immune system reacts against itself, thus inflicting the common symptoms of dry mouth, nose and possible accompanying arthritis. Like most autoimmune diseases, Sjogren's is predominantly found in females and demonstrates a strong genetic association to the HLA class Il genes. We have recently identified a phenotypic and functional defect in Sjogren's lymphocytes in their ability to stably present self peptides in the groove of HLA class I molecules. The defective genes perhaps causing this defect could be Tap-I or Tap-2, two new recently identified genes directly located within the HLA class II region. Tap-1 and Tap-2 are required for correct assembly of class I with associated self peptides. The purpose of this Small Grant Program is to genetically screen Sjogren's DNA samples by DGGE, denaturing gradient gel electrophoresis, to possibly detect polymorphisms causing functional defects in these ATPase transporter genes, Tap-1 and Tap-2.