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目的:将Goldengate高通量耳聋基因芯片应用于大前庭水管综合征患者，验证芯片的准确性及有效性，为制定更加详细的大前庭水管综合征遗传检测策略提供参考。方法:2016年8月至2018年2月利用本研究团队研发的Goldengate高通量耳聋检测芯片，检测15例确诊为大前庭水管综合征耳聋患者及60例健康人对照样本，并利用Sanger测序法验证芯片检测结果。所有大前庭水管综合征患者均进行n SLC26A4基因测序，并与芯片结果进行对比分析。n 结果:12/15患者通过芯片检测出n SLC26A4基因突变，通过芯片检测和n SLC26A4基因直接测序共检出9种突变，其中7种突变被两种方法均检出，该芯片可检测出n SLC26A4基因直接测序法所提供的等位基因信息的93.33%（28/30）。除n SLC26A4基因以外，15例大前庭水管综合征患者通过芯片还同时检测出n GJB2、n PCDH15、n TMC1、n MYO6以及线粒体基因的突变，并均经过Sanger测序法得到验证。n 结论:Goldengate高通量耳聋基因芯片具有检测覆盖广、准确性高等特点，可作为大前庭水管综合征患者的初步检测手段。“,”Objective:To verify the accuracy and effectiveness of Goldengate high-throughput deafness gene chip in detecting the patients with enlarged vestibular aqueduct syndrome(EVAS), and to provide a reference for genetic detection strategy of EVAS.Methods:From August 2016 to February 2018, 15 patients with EVAS and 60 normal controls were detected by Goldengate high-throughput deafness detection chip developed by our team, and the results were verified by Sanger sequencing. n SLC26A4 gene sequencing was carried out in all the patients with EVAS.n Results:12/15 of patients with EVAS were detected mutations of n SLC26A4 gene. Nine mutations were detected by chip detection and n SLC26A4 gene direct sequencing, seven of which were detected by both methods. The chip could detect 93.33%(28/30) of the allele information provided by n SLC26A4 gene direct sequencing. In addition to n SLC26A4 gene, mutations of n GJB2, n PCDH15, n TMC1, n MYO6 and mitochondrial genes were detected in 15 patients with EVAS. These results were verified by Sanger sequencing.n Conclusion:Goldengate high-throughput deafness gene chip possesses the traits of wide coverage and high accuracy, which can be used as a preliminary detection method for patients with EVAS.