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

作　　者：邹凌 梁冬 俞皓 杨馨婷 张冠斌 ZOU Ling;LIANG Dong;YU Hao;YANG Xinting;ZHANG Guanbin(Chengdu Women and Children′s Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu 611731,China;不详)

机构地区：[1]电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院,成都611731 [2]成都博奥独立医学实验室 [3]生物芯片北京国家工程研究中心

出　　处：《中华耳科学杂志》2024年第4期567-572,共6页Chinese Journal of Otology

基　　金：成都市医学科研课题(2023342)。

摘　　要：目的通过对成都市2020年出生的459例先天性聋患儿进行高通量测序,分析该人群耳聋基因突变情况,探讨如何对遗传性耳聋进行有效防控。方法采集新生儿干血斑提取基因组DNA,采用高通量测序技术检测18个耳聋基因上的101个位点。结果共检出阳性携带者241例,GJB2、SLC26A4是成都市排名前2位的常见致聋基因,其阳性携带率分别为49.46%、0.65%。241例阳性携带者中携带了GJB2基因上c.109G>A突变219例,突变频率最高。结论通过高通量测序技术对更多的耳聋突变位点进行检测,能为更多的患儿明确耳聋的遗传学病因,有助于更好地采取听力语言干预措施、遗传咨询及健康生活指导等,GJB2基因上c.109G>A在成都市的阳性检出率显著高于全国其他地区,临床上要予以重点关注。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 sequencing technology facilitates detection of deafness-associated mutation sites in infants with congenital HL and implement 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 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]