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目的 研究粘多糖贮积症 型 ( mucopolysaccharidosis type ,MPS )患者的艾杜糖 - 2 -硫酸酯酶 ( iduronate- 2 - sulfatase,IDS)基因的基因突变。方法 应用聚合酶链反应 -单链构象多态性( polymerase chain reaction- single strand conformation polymorphism,PCR- SSCP)对患者的 IDS基因可能的常见突变第 2、3、5、7～ 9外显子进行检测 ,并对 PCR- SSCP检出的突变进行直接测序 ,测序发现的突变进行 PCR-限制性酶切分析验证。结果 经 PCR- SSCP和 DNA序列分析发现该患者的第 7外显子发生新的点突变 ( G12 5 3T) ;聚合酶链反应 -限制性片段长度多态性 ( PCR- RFL P)电泳检测示患者和母亲出现突变导致的酶切位点 ,进一步验证了序列分析结果。结论 筛查所得的点突变 G12 5 3T可能是该 MPS 患者的致病原因
Objective To investigate the gene mutation of iduronate-2-sulfatase (IDS) gene in patients with mucopolysaccharidosis type (MPS). Methods The second, third, fifth, seventh and ninth exons of IDS gene in the patients were subjected to polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) The mutations detected by PCR-SSCP were directly sequenced and the mutations found by sequencing were verified by PCR-restriction analysis. Results A new point mutation (G12 5 3T) was found in exon 7 of this patient by PCR-SSCP and DNA sequence analysis. The result of PCR-RFLP Mutations in the patient and mother resulted in cleavage sites that further validated the sequence analysis. Conclusion The point mutation G12 5 3T obtained by screening may be the causative agent of this MPS