Deafness Gene Mutations in Ningbo: 1781 Newborns Study
10.3969/j.issn.1006-9771.2020.05.023
- VernacularTitle:宁波新生儿遗传性耳聋基因突变1781例分析
- Author:
You-wei BAO
1
;
Xiao-li PAN
1
;
Shu-qing PAN
1
;
Jie-wen PAN
1
;
Hai-bo LI
1
Author Information
1. Ningbo Municipal Key Laboratory of Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China
- Publication Type:Research Article
- Keywords:
hereditary hearing loss;
newborn;
hearing screening;
gene mutation
- From:
Chinese Journal of Rehabilitation Theory and Practice
2020;26(5):607-609
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the mutation types and frequency of deafness genes in Ningbo newborns. Methods:From January to September, 2019, 1781 newborns in Ningbo Women and Children's Hospital accepted deafness gene screening, including 22 mutations of four common deafness genes. Results:There were 104 newborns who were found deafness gene mutation (5.84%), 59 boys and 45 girls. Mutation rate was 3. 31% (59/1781) for GJB2, 0.56% (10/1781) for GJB3, 0.39% (7/1781) for mtDNA, and 1.57% (28/1781) for SLC26A4. Conclusion:The mutation rate of deafness gene in newborns in Ningbo is higher than the China average level, especially the rate of GJB2. It is necessary to screen newborn deafness gene earlier.
