Validation and analysis of Goldengate high-throughput deafness gene chip in detecting the patients with enlarged vestibular aqueduct syndrome.
10.3760/cma.j.cn115330-20200302-00150
- VernacularTitle: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
- Author:
Hong WU
1
;
Lu JIANG
1
;
Chang LIU
1
;
Ya Lan LIU
1
;
Meng Qi LONG
1
;
Ling Yun MEI
1
;
Chu Feng HE
1
;
Xin Zhang CAI
1
;
Hong Sheng CHEN
1
;
Yong FENG
1
Author Information
1. Department of Otorhinolaryngology Head and Neck Surgery, Xiangya Hospital, Central South University, Key Laboratory of Otorhinolaryngology, Hunan Province, Changsha 410008, ChinaFeng Yong is now in the Department of Otorhinolaryngology, Changsha Central Hospital, University of South China, Changsha 410004, China.
- Publication Type:Journal Article
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2021;56(2):138-143
- CountryChina
- Language:Chinese
-
Abstract:
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, MYO6 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.
