Roushdy J, Santoso S, Kalb R, Meier-Ewert K, Albert E D, Mueller-Eckhardt G
Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany.
Hum Immunol. 1993 May;37(1):1-6. doi: 10.1016/0198-8859(93)90136-o.
In this report, we describe a new allele of the HLA-DRB 1 gene carrying a form of mutation that has not been observed before. It appeared in an HLA-DR2-negative narcolepsy patient who, besides HLA-DR4, revealed a serologic HLA-DR blank segregating with HLA-DQ1. Oligotyping showed that the new allele belongs to the HLA-DR8 group. Restriction analysis and DNA sequencing revealed the deletion of 12 bp as well as the substitution of 9 flanking base pairs between codons 36 and 43. The expression of the mutated gene was demonstrated by the presence of its messenger RNA and a few positive reactions with DR8 sera. Without interrupting the reading frame, the mutation leads to a gene product composed of a modified amino acid sequence. We anticipate that the mutation influences the conformation of the molecule with possible consequences concerning immune response.
在本报告中，我们描述了HLA-DRB1基因的一个新等位基因，其携带一种此前未观察到的突变形式。它出现在一名HLA-DR2阴性发作性睡病患者中，该患者除了HLA-DR4外，还显示出一个与HLA-DQ1连锁的血清学HLA-DR空白位点。寡核苷酸分型显示该新等位基因属于HLA-DR8组。限制性分析和DNA测序揭示了第36和43密码子之间12个碱基对的缺失以及9个侧翼碱基对的替换。通过其信使RNA的存在以及与DR8血清的一些阳性反应证明了突变基因的表达。该突变在不中断阅读框的情况下，导致由修饰氨基酸序列组成的基因产物。我们预计该突变会影响分子的构象，可能对免疫反应产生影响。
