中华耳科学杂志2017，Vol.15Issue(3)：310-313,4.DOI:10.3969/j.issn.1672-2922.2017.03.006
河北省秦皇岛市聋哑学校耳聋患者基因突变调查分析
Genetic Mutations Among Patients From a Deaf-mute School in Qinhuangdao
张华 1张昊昱 2张为霞 3朱俊真2
作者信息
- 1. 秦皇岛市第一医院
- 2. 河北省人民医院三优中心
- 3. 河北省人民医院超声科
- 折叠
摘要
Abstract
Objective To investigate mutation of common deafness genes in the Qinhuangdao area. Methods Four genes (GJB2, GJB3, SLC26A4 and 12SrRNA, 20 sites) commonly associated with deafness in China were tested via time of flight mass spectrometry. Results Among the 46 patients tested, 23 (50%) were found to have deafness gene muta-tions with 8 homozygotes (17.39%), 6 compound heterozygotes (13.04%) and 9 heterozygotes (19.57%). Conclusions The rate of deafness gene carrier is high among deaf-mute school students in Qinhuangdao, showing mostly homozy-gous or compound heterozygous mutations. Genetic testing, thorough, careful and accurate genetic counseling, and ef-fective intervention are the key to reducing incidence of hereditary deafness.关键词
遗传性耳聋/GJB2基因/SLC26A4基因/线粒体DNA/突变Key words
Hereditary Deafness/GJB2 Gene/SLC26A4 Gene/Mitochondrial DNA/Mutation分类
医药卫生引用本文复制引用
张华,张昊昱,张为霞,朱俊真..河北省秦皇岛市聋哑学校耳聋患者基因突变调查分析[J].中华耳科学杂志,2017,15(3):310-313,4.
