粘多糖贮积症Ⅱ型家系IDS基因的突变分析  

Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis type Ⅱ

作　　者：李奕颖[1,2] 梅世月[1] 孔祥东[1] 赵振华[1] 朱晓帆[1] 杨欣雨[1,2] 秦智[1,2] 吴晗[1,2] 

机构地区：[1]郑州大学第一附属医院产前诊断中心,450052 [2]郑州大学临床医学系

出　　处：《中华医学遗传学杂志》2017年第1期58-60,共3页Chinese Journal of Medical Genetics

基　　金：国家级大学生创新创业训练计划项目（201510459072）

摘　　要：目的对一个黏多糖贮积症Ⅱ型（mucopolysaccharidosistypeⅡ，MPSⅡ）家系的艾杜糖-2-硫酸酯酶（iduronate-2-sulfatase，IDS）基因进行突变分析，为家系的遗传咨询和产前诊断提供理论依据。方法应用PCR扩增和直接双向测序对1个黏多糖贮积症Ⅱ型家系中的先证者及其母亲的IDS基因的全编码区序列进行基因突变分析。结果测序结果显示先证者携带IDS基因C．709-IG〉A突变，先证者母亲携带IDS基因c．709-IG〉A杂合突变。结论IDS基因c．709—1G〉A剪接突变可能是该黏多糖贮积症Ⅱ型家系的致病原因，产前诊断是避免患儿出生的有效方法。Objective To detect potential mutation of iduronate-2-sulfatase （IDS） gene in a family affected with mucopolysaccharidosis typeⅡ （MPS Ⅱ ）. Methods For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing. Results A novel splicing mutation, c. 709-1G〉A, was detected in the proband, for which his mother was heterozygous. Conclusion The c. 709-1G〉A splicing mutation of the IDS gene is probably causative for the MSP Ⅱ in the proband. Prenatal diagnosis for the mutation may avoid birth of further child affected with this disease.

关 键 词：黏多糖贮积症Ⅱ型 IDS基因 基因测序 产前诊断 

分 类 号：R440[医药卫生—诊断学] R725.9[医药卫生—临床医学]