一个IDS基因第2外显子单独缺失导致黏多糖贮积症Ⅱ型家系的遗传学分析及产前诊断  

Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with mucopolysaccharidosis type Ⅱ due to deletion of exon 2 of IDS gene

作　　者：赵干业 陈晨[1] 赵学潮 刘莉娜 王聪慧 孔祥东[1] Zhao Ganye;Chen Chen;Zhao Xuechao;Liu Lina;Wang Conghui;Kong Xiangdong(Genetics and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院妇产医学部遗传与产前诊断中心,郑州450052

出　　处：《中华医学遗传学杂志》2022年第8期864-867,共4页Chinese Journal of Medical Genetics

基　　金：郑州大学第一附属医院院内青年创新基金;河南省科技攻关计划(202102310391);郑州市科技惠民计划(2021KJHM0003)。

摘　　要：目的探讨一个黏多糖贮积症Ⅱ型(Mucopolysaccharidosis typeⅡ,MPSⅡ)患者的遗传学病因并对该家系胎儿进行产前诊断。方法通过一代测序、琼脂糖凝胶电泳、real-time PCR和多重连接探针扩增(multiple ligation-dependent probe amplification,MLPA)等方法对患者IDS基因进行检测并在其母亲身上验证;对该家系胎儿通过羊水穿刺进行产前诊断。结果琼脂糖凝胶电泳、Real-time PCR和MLPA皆显示患者IDS基因第2外显子缺失,其母亲IDS基因正常。产前诊断结果显示胎儿为正常男性。结论患者为IDS基因新发第2外显子缺失导致的MPSⅡ患者,其母亲非携带者;本研究结果拓宽了IDS基因致病变异谱;多方法联合应用检测IDS基因变异可对MPSⅡ进行准确的遗传学诊断和产前诊断。Objective To explore the genetic etiology of a patient with mucopolysaccharidosis typeⅡ(MPSⅡ).Methods The IDS gene of the proband and his mother was detected by Sanger sequencing,agarose gel electrophoresis,real-time PCR and multiple ligation-dependent probe amplification(MLPA).Prenatal diagnosis was performed on amniotic fluid sample.Results Agarose gel electrophoresis,real-time PCR,and MLPA all showed that exon 2 of IDS gene of the proband was deleted,for which his mother was normal.Prenatal diagnosis showed that the fetus was a normal male.Conclusion The de novo deletion of exon 2 of the IDS gene probably underlay the MPSⅡin this patient.Above finding has broadened the mutation spectrum of the IDS gene.The combined methods for the detection of IDS gene mutations could make accurate prenatal diagnosis for MPSⅡ.

关 键 词：黏多糖贮积症Ⅱ型 IDS基因 单外显子缺失 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学] R725.9[医药卫生—临床医学]