Goldengate高通量耳聋基因芯片在大前庭水管综合征中的有效性验证及应用分析

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...

Validation and analysis of Goldengate high-throughput deafness gene chip in detecting the patients with enlarged vestibular aqueduct syndrome

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.SLC26A4 gene sequencing was carried out in all the patients with EVAS.Results 12/15 of patients with EVAS were detected mutations of SLC26A4 gene.Nine mutations were detected by chip detection and 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 SLC26A4 gene direct sequencing.In addition to SLC26A4 gene,mutations of GJB2,PCDH15,TMC1,MY06 and mitochondrial genes were detected in 15 patients with EVAS.These results were verified by Sanger sequencing.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.