中文摘要：

目的：对非综合征性先天性重度及以上感音神经性听力损失儿童及其父母进行耳聋相关基因检测，探讨耳聋基因芯片筛查在临床中应用的有效性和可行性。方法选择来自医院听力检测中心的47个听障儿童家庭，包括52例非综合征性先天性感音神经性听力损失患儿及其父母，应用遗传学耳聋基因芯片对47个家庭进行GJB2、GJB3、SLC26A4、线粒体12S rRNA4个常见耳聋基因9个检测位点的基因检测。结果146例受检者中，17个家庭的43例筛查结果阳性，其中16例听力损失患儿筛查阳性，筛查阳性率为30.8%。GJB2基因235delC位点纯合突变8例，GJB2基因235delC位点杂合突变20例，GJB2基因235delC位点和SLC26A4基因IVS7-2A〉G位点杂合突变1例，SLC26A4基因IVS7-2A〉G位点纯合突变2例，SLC26A4基因IVS7-2A〉G位点杂合突变10例，SLC26A4基因2168A〉G位点杂合突变2例。结论应用耳聋基因芯片检测技术能快速、高效地检测非综合征性耳聋患者的遗传性致病基因，适用于大规模群体耳聋基因的筛查，有助于临床医生从病因学角度辅助耳聋诊断，引入正确的康复干预措施，并为具有聋病易感基因的听力损失儿童家庭提供针对性的遗传咨询指导。

英文摘要：

Objective To screen the deafness-related genes in children with severe and profound non-syndromic sensorineural hearing loss（NSHL） and their parents using DNA microarray and to investigate the reliability and feasibility of this technique. Methods 52 children with NSHL and their parents were screened with the DNA microarray which can detect 9 hot-spot mutations of four common deafness-related genes, including GJB2（35delG, 176del16, 235delC, 299_300delAT）, GJB3（538C＆gt;T）,SLC26A4（2168A＆gt;G, IVS7-2A＆gt;G） and mitochondrial 12S rRNA（1494C＆gt;T, 1555A＆gt;G）. Results 43 of 146 subjects had positive results.16 of 52 NSHL children carried at least one deafness-related gene mutation and the positive rate was 30.8%. The GJB2 235delC homozygous mutations was found in 8 cases, GJB2 235delC heterozygous mutations in 20 cases,GJB2 235delC mutation/SLC26A4 IVS7-2A＆gt;G heterozygous mutation in 1 case, SLC26A4 IVS7-2A＆gt;G homozygous mutations in 2 cases, SLC26A4 IVS7-2A＆gt;G heterozygous mutations in 10 cases and SLC26A4 2168A＆gt;G heterozygous mutations in 2 cases. Conclusion Microarray-based deafness-related genetic testing for hereditary hearing loss is an efficient and rapid screening method for patients with NSHL and can be applied to large-scale screening. It can help doctors diagnose a hearing loss from the perspective of etiology, improve the medical management for NSHL children with deafness-related genes and provide genetic counseling for their families.