中华耳科学杂志2024，Vol.22Issue(4)：567-572,6.DOI:10.3969/j.issn.1672-2922.2024.04.008
成都市459例先天性聋患儿基因检测分析及c.109G>A阳性人群听力随访
Deafness-Associated Genes Mutations among 459 Infants with Congenital Hearing Loss in Chengdu
摘要
Abstract
Objective To report deafness-related mutation sites among 459 infants with congenital hearing loss(HL)born in Chengdu in 2020 to improve prevention and control of hereditary deafness.Methods Genomic DNA was extracted from dried blood and analyzed using high-throughput sequencing kit capable of detecting 101 mutation sites in 18 deafness-associated genes.Results Mutation sites were detected in 241 children,with GJB2 and SLC26A4 were the top two common deafness genes involved(49.46%and 0.65%,respectively).Among the 241 positive cases,GJB2 c.109G>A was found in 219,the most common deafness mutations in this cohort.Conclusion The high-throughput se-quencing technology facilitates detection of deafness-associated mutation sites in infants with congenital HL and imple-ment of effective intervention,genetic counseling and healthcare.c.109G>A in the GJB2 gene has the highest frequency in the Chengdu population,significantly higher than in other major city populations in China,requiring clinical attention.关键词
耳聋基因/先天性耳聋/突变分析Key words
deafness gene/congenital hearing loss/mutational analysis引用本文复制引用
邹凌,梁冬,俞皓,杨馨婷,张冠斌..成都市459例先天性聋患儿基因检测分析及c.109G>A阳性人群听力随访[J].中华耳科学杂志,2024,22(4):567-572,6.基金项目
成都市医学科研课题(2023342) （2023342）
