艾杜糖醛酸

方法：用PCR、RFLP、SSCP和DNA测序的方法检测我国辽宁地区10个粘多糖贮积症Ⅰ型家系α-L-艾杜糖醛酸酶基因的突变情况。

METHODS : The mutation type and polymorphism site in the IDUA gene of Liaoning district MPS-I patients were detected by PCR-RFLP , SSCP and DNA sequencing .

亨特氏综合症的患者体内缺乏艾杜糖醛酸-2-硫酸酯酶，该酶对机体内诸如葡萄胺聚糖（GAG）这样的碳水化合物循环利用非常重要。

People with Hunter syndrome lack the enzyme iduronate-2-sulfatase , which is essential for recycling complex carbohydrates such as glycosaminoglycans , or GAG .

【目的】构建突变型αL艾杜糖醛酸酶基因（IDUA）cDNA，为体外表达、鉴定突变的性质提供物质基础。

Objective The mutant IDUA gene ( IDUA ) cDNA was constructed in order to establish the foundation for in vitro expression and further identification .

肝素（Heparin，Hep）是由不同硫酸化程度的葡萄糖胺和葡萄糖醛酸／艾杜糖醛酸二糖单位所组成的粘多糖，是目前临床上最重要的抗凝血和抗血栓药物。

Heparin ( Hep ) is a mucopolysaccharide consisting of glucosamine with different degree of sulfation and glucuronic acid / iduronic di-saccharide units . Hep is the most important anticoagulant and antithrombotic drugs in clinical .

利用体外定点诱变技术构建人突变型α-L-艾杜糖醛酸酶基因

Constructing Human Mutant IDUA Gene by in Vitro Site-Directed Mutagenesis Technique

结论：我国辽宁地区粘多糖贮积症Ⅰ型患者α-L-艾杜糖醛酸酶基因的突变情况不同于其他国家和地区。

CONCLUSION : The mutation type in the IDUA gene of Liaoning district MPS-I patients is different from that of other countries and districts .