Bondeson M L, Malmgren H, Dahl N, Carlberg B M, Pettersson U
Beijer Laboratory, Department of Medical Genetics, University of Uppsala, Sweden.
Eur J Hum Genet. 1995;3(4):219-27. doi: 10.1159/000472302.
A deficiency of the enzyme iduronate-2-sulfatase (IDS) is the cause of Hunter syndrome (mucopolysaccharidosis type II). Here, we report a study of the human IDS locus at Xq28. An unexpected finding was an IDS-related region (IDS2) which is located on the telomeric side of the IDS gene within 80 kb. We have identified sequences in this locus that are homologous to exons 2 and 3 as well as sequences homologous to introns 2, 3 and 7 of the IDS gene. The exon 3 sequences in the IDS gene and in the IDS2 locus showed 100% identity. The overall identities of the other identified regions were 96%. A locus for DXS466 was also found to be located close to IDS2. The existence of the IDS2 locus complicates the diagnosis of mutations in genomic DNA from patients with Hunter syndrome. However, information about the IDS2 locus makes it possible to analyze the IDS gene and the IDS2 locus separately after PCR amplification.
艾杜糖醛酸-2-硫酸酯酶（IDS）缺乏是亨特综合征（II型黏多糖贮积症）的病因。在此，我们报告一项对位于Xq28的人类IDS基因座的研究。一个意外发现是一个与IDS相关的区域（IDS2），它位于IDS基因端粒侧80 kb范围内。我们已在该基因座中鉴定出与外显子2和3同源的序列，以及与IDS基因的内含子2、3和7同源的序列。IDS基因和IDS2基因座中的外显子3序列显示出100%的同一性。其他鉴定区域的总体同一性为96%。还发现DXS466的一个基因座位于IDS2附近。IDS2基因座的存在使亨特综合征患者基因组DNA中突变的诊断变得复杂。然而，关于IDS2基因座的信息使得在PCR扩增后能够分别分析IDS基因和IDS2基因座。
