Hunter综合征(即粘多糖累积症Ⅱ型,MPSⅡ)是一种由于溶酶体酶,即α-艾杜糖醛酸硫酸酯酶(IDS)缺乏引起多种组织内氨基葡聚糖贮积的X连锁隐性遗传疾病。使用X染色体探针进行连锁分析表明Hunter位点位于X染色体长臂末端。这与本病的细胞遗传学研究结果一致。细胞遗传学研究发现一个Hunter病女性患者携带一X与常染色体易位的染色体,并提示此基因定位在Xq Hunter syndrome (ie, Mucopolysaccharidosis type II, MPSII) is a syndrome of mucopolysaccharidosis that causes accumulation of aminodextran in various tissues due to lack of lysosomal enzymes, ie, lack of a-iduronate sulfatase (IDS) X-linked recessive genetic disease. Linkage analysis using the X chromosome probe showed that the Hunter site is at the long arm of the X chromosome. This is consistent with the cytogenetic study of this disease. Cytogenetics study found that a Hunter disease female patients carrying a chromosome X and autosomal translocations, and prompted the gene located in the Xq