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

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