咸阳地区27 660例新生儿听力及耳聋基因联合筛查结果分析
Analysis of the results of the combined hearing and deafness gene screening of 27 660 newborns in Xianyang
庞盼 1王馨 2刘晖 2蔡晨红 1方立江 1郭瑞林1
作者信息
- 1. 陕西中医药大学第二附属医院检验科 咸阳 712000
- 2. 陕西省人民医院耳鼻咽喉头颈外科 西安 710068
- 折叠
摘要
目的 了解咸阳地区 4 个常见耳聋易感基因的携带率和突变类型,对该地区制订耳聋疾病防治方案提供理论依据和数据支持.方法 选取 2019 年 1 月—2023 年 2 月在陕西中医药大学第二附属医院出生的 27 660 例新生儿进行听力与耳聋易感基因联合筛查.听力筛查包括耳声发射和自动听性脑干反应.采用荧光聚合酶链反应(PCR)熔解曲线法对GJB2、GJB3、SLC26A4 及线粒体MT-RNR1(mtDNA)4 个常见耳聋易感基因 15 个突变位点进行检测分析,同时采用基因测序技术对阳性样本进行验证.结果 27 660 例新生儿中,检出 1 183 例耳聋基因突变携带者,携带率为 4.27%,其中包括GJB2 基因突变 570 例(2.06%),SLC26A4 基因突变 528 例(1.91%),GJB3 基因突变 16 例(0.06%),线粒体MT-RNR1 基因突变 50 例(0.18%),复合杂合突变 15 例(0.05%),纯合突变 4 例(0.01%);检出 3 例听力障碍患儿,包括 2 例GJB2 c.235delC纯合突变,1例SLC26A4 c.919-2 A>G纯合突变.结论 在该地区新生儿中,耳聋基因突变携带率偏高,主要以GJB2 和SLC26A4 基因突变为主.新生儿耳聋基因的筛查,可针对性地给耳聋基因缺陷家庭提供有价值的建议,从而降低耳聋发生率.
Abstract
Objective To determine the prevalence and types of mutations in deafness-related genes in Xianyang,providing a theoretical basis and data support for clinical counselling on deafness prevention and treatment.Methods A total of 27 660 newborns born in our hospital between January 2019 and February 2023 were screened for hearing and deafness-related genes using otoacoustic emission,automated auditory brainstem response,polymerase chain reaction(PCR)for detecting 15 mutation sites of the common deafness genes(GJB2,GJB3,SLC26A4 and MT-RNR1),as well as validation through Sanger sequencing for positive samples.Results Among the 27 660 newborns,1 183(4.27%)were carriers of deafness gene mutations,including 570(2.06%)of GJB2 gene mutations,528(1.91%)of SLC26A4 gene mutations,and 16(0.06%)of GJB3 gene mutations,and MT-RNR1 gene mutation found in 50 cases(0.18%).There were also compound heterozygous mutation(15 cases,0.05%)and homozygous mutation(4 cases,0.01%).Three cases of hearing loss were detected,including two cases with GJB2 c.235delC homozygous mutation and one case with SLC26A4 c.919-2 A>G homozygous mutation.Conclusion The high prevalence rate of sensorineural deafness among the newborns in the area is mainly attribute to GJB2 and SLC26A4 gene mutations.Screening for these genetic defects can provide valuable advice to families affected by hearing loss gene,thereby reducing the incidence of hearing loss.
关键词
耳聋基因/新生儿/GJB2/GJB3/SLC26A4/MT-RNR1Key words
Deafness genes/Newborn/GJB2/GJB3/SLC26A4/MT-RNR1引用本文复制引用
出版年
2024
NETL
NSTL
万方数据