Saeki H, Kuwata S, Nakagawa H, Shimada S, Tamaki K, Ishibashi Y
Department of Dermatology, Faculty of Medicine, University of Tokyo, Japan.
Br J Dermatol. 1998 Jul;139(1):96-8. doi: 10.1046/j.1365-2133.1998.02320.x.
Most caucasian patients with X-linked ichthyosis (XLI) reportedly display large genomic deletions involving the entire steroid sulphatase (STS) gene and flanking regions. In this study, we investigated the deletion patterns of the STS gene and flanking regions in 12 unrelated Japanese patients with XLI using the polymerase chain reaction method with 10 markers, including the 5' and 3' ends of the STS gene. Eleven of the 12 patients exhibited deletion of this entire gene, whereas the twelfth patient showed no evidence of deletion. In 10 of the 12 patients, the entire region from DXS1139 to DXF22S1 was deleted, the most common deletion pattern observed in caucasian patients, indicating that there are no racial or ethnic differences.
据报道，大多数患有X连锁鱼鳞病（XLI）的白种人患者表现出涉及整个类固醇硫酸酯酶（STS）基因及其侧翼区域的大片段基因组缺失。在本研究中，我们使用聚合酶链反应方法，利用包括STS基因5'和3'末端在内的10个标记，对12名无亲缘关系的日本XLI患者的STS基因及其侧翼区域的缺失模式进行了研究。12名患者中有11名表现出该整个基因的缺失，而第12名患者未显示出缺失迹象。在12名患者中的10名中，从DXS1139到DXF22S1的整个区域被删除，这是在白种人患者中观察到的最常见的缺失模式，表明不存在种族差异。
