中国耳鼻咽喉头颈外科2016，Vol.23Issue(6)：335-337,3.DOI:10.16066/j.1672-7002.2016.06.008
福州地区88例听力障碍者致聋基因测序结果分析
Analysis of deafness-related gene mutations in 88 non-syndromic hearing loss patients in Fuzhou city
摘要
Abstract
OBJECTIVE To investigate the deafness-related gene mutation frequency and hotspots in patients of Fuzhou city with non-syndromic hearing loss (NSHL). METHODS Peripheral blood samples were obtained from 88 cases of patients with hearing loss after clinical history inquiry and clinical examination. Their genomic DNA was extracted from peripheral blood by extraction kits to undergo polymerase chain reaction, traditional capillary electrophoresis sequencing and High-throughput sequencing so as to detect the mutations of deafness-related gene. RESULTS Among the 88 patients with NSHL, the gene mutation frequency was 34.09%.In the patients, 14 cases had mitochondrial 12 S rRNA mutations, six cases had GJB2 gene mutations and three cases had SLC26A4 mutations, two cases had MYO15A mutations, the other five cases had MYO7A, OTOF, TECTA, TMC1 and ILDR1 gene mutation respectively. CONCLUSION Among the 88 patients with NSHL, the most frequent mutation causing hereditary deadness was mutation in mitochondrial 12 S rRNA, followed by GJB2 and SLC26A4, The other genes such as MYO7A, OTOF, TECTA, TMC1 and ILDR1 gene were infrequent. The study could provide theoretical reference in genetic diagnosis, prevention and cure of hearing loss.关键词
听力障碍/基因/氨基糖苷类/突变筛查/非综合征聋/福州地区/毛细管电泳测序/高通量测序Key words
Hearing Disorders/Genes/Aminoglycosides/mutation screening/non-syndromic deafness/Fuzhou city/capillary electrophoresis sequencing/high-throughput sequencing引用本文复制引用
林文津,郭舜民,徐小妹,徐榕青,张亚敏..福州地区88例听力障碍者致聋基因测序结果分析[J].中国耳鼻咽喉头颈外科,2016,23(6):335-337,3.基金项目
福建省科技厅公益科研院所基本专项基金资助项目 （）
