Screening for GJB2,SLC26A4 and mitochondrial DNA12S rRNA genes mutations in 27 families with non-syndromic hearing loss
10.16066/j.1672-7002.2025.01.005
- VernacularTitle:27个非综合征型遗传性聋家系GJB2、SLC26A4、线粒体DNA12S rRNA基因突变筛查
- Author:
Liwei WANG
1
;
Jianrui LI
;
Tao LIU
;
Jiangwei YAN
;
Yaran YANG
Author Information
1. 清华大学附属垂杨柳医院耳鼻咽喉头颈外科,北京 100022
- Keywords:
Deafness;
Heredity;
Mutation;
DNA,Mitochondrial;
hereditary deafness;
GJB2;
SLC26A4
- From:
Chinese Archives of Otolaryngology-Head and Neck Surgery
2025;32(1):22-26
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE To screen for GJB2,mitochondrial DNA12S rRNA 1555A>G and SLC26A4 gene mutations in 27 non syndromic hereditary hearing loss families,clarify the genetic causes.METHODS 125 members from 27 deaf families were for questionnaire surveys,audiological examinations,and peripheral blood DNA extraction.The GJB2,SLC26A4,and mitochondrial DNA A1555G coding regions were amplified and directly sequenced.RESULTS Twelve families and 52 individuals were screened for deafness gene mutations,the detection rate in 27 families was 44%(12/27),and the detection rate in all the members was 42%(52/125).The detection rate of gene mutation for GJB2 is 31%(39/125),for SLC26A4 is 6%(8/125),and for mitochondrial DNA1555A>G mutation is 4%(5/125).CONCLUSION GJB2,SLC26A4 and mitochondrial A1555G have a high detection rate in families with hereditary deafness.Mutation screening of these three genes can clarify the genetic causes of most deafness families and can be used as genetic screening targets for hereditary deaf families.
