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溶酶体支杜糖-2-硫酸酯酶(IDS)缺乏症(Hunter综合征,MPSⅡ)是一种罕见的先天性X-连锁葡萄糖胺聚糖缺陷,IDS位点定位于Xq27.3-q28。受累男性中,葡萄糖胺聚糖在溶酶体内蓄积,不断损伤大脑、肝脏和其他器官。此病存在高度的临床变异,对严重受累的非成年患者来讲此病是致命的。但也有许多受累个体存活下来,很少或无智力低下。人们认为此病的临床严重程度是根据IDS结构基因的不同突变而定。最近,已分离出IDS cDNA克隆,几乎包括全部IDS基因编码区。这种克隆对研究MPSⅡ患者的基因突变是有用的。
Lysosomal-dextran-2-sulfatase (IDS) deficiency (Hunter syndrome, MPSII) is a rare congenital deficiency of X-linked glycosaminoglycans with the IDS locus located at Xq27.3-q28 . Of the men involved, glycosaminoglycans accumulate in the lysosome, constantly damaging the brain, liver and other organs. The disease has a high degree of clinical variability and is fatal to non-adult patients with severe involvement. But many affected individuals survive with little or no mental retardation. It is thought that the clinical severity of the disease is based on different mutations in the IDS structural gene. Recently, IDS cDNA clones have been isolated, including almost all of the IDS gene coding regions. This clone is useful for studying genetic mutations in MPSII patients.