宁波部分地区11914例新生儿耳聋基因筛查结果分析  

Analysis of deafness genetic screening results of 11914 newborns with deafness in partial areas of Ningbo

作　　者：潘澍青 潘小莉[1] 潘婕文[1] 李海波 庄丹燕[1] PAN Shuqing;PAN Xiaoli;PAN Jiewen;LI Haibo;ZHUANG Danyan(Key Laboratory of Comprehensive Prevention and Treatment of Congenital Anomailes,Women’s and Children’s Hospital of Ningbo,Ningbo 315000,China)

机构地区：[1]宁波市妇女儿童医院出生缺陷综合防治重点实验室,宁波315000

出　　处：《中国眼耳鼻喉科杂志》2023年第5期377-381,共5页Chinese Journal of Ophthalmology and Otorhinolaryngology

基　　金：宁波市科技计划项目(202003N4223,202002N3150);宁波市医学重点扶植学科儿童保健学(2022-F26);浙江省医药卫生项目(2023KY1121)。

摘　　要：目的 通过分析宁波部分地区新生儿常见耳聋基因的突变类型和突变频率,为临床耳聋基因检测及病因诊断提供参考依据。方法 采集2019年12月~2022年5月在宁波市妇女儿童医院出生的11 914例新生儿的足跟血片,应用荧光聚合酶链反应熔解曲线法对我国常见的4种耳聋基因GJB2(c.35delG、c.176-191del16、c.235delC和c.299-300delAT)、SLC26A4(c.919-2A>G、c.1226G>A、c.1707+5G>A、c.2027T>A、c.1229C>T、c.2168A>G、c.1975G>C和c.1174A>T)、GJB3(c.538C>T)和线粒体12SrRNA(m.1494C>T和m.1555A>G)进行检测。结果 在11 914例新生儿中,检出基因突变586例,检出率为4.92%;其中GJB2基因突变306例(2.57%),GJB3基因突变30例(0.25%),SLC26A4基因突变219例(1.84%),线粒体12S rRNA基因突变23例(0.19%);另有8例新生儿携带2种基因的突变位点(0.07%)。GJB2基因c.235delC检出率最高,占1.98%,其次是SLC26A4基因c.919-2A>G,占1.19%。10例耳聋基因突变的新生儿在后期随访中确诊听力异常。结论 宁波部分地区新生儿耳聋基因突变以GJB2基因突变为主,其中GJB2基因c.235delC和SLC26A4基因c.919-2A>G是该部分地区新生儿最常见的2种突变位点。开展新生儿耳聋基因筛查对于耳聋早期预防及病因诊断具有重要的意义。Objective To analyze the mutation types and frequencies of common newborns deafness genes in partial areas of Ningbo in order to provide reference for clinical deafness gene detection and etiological diagnosis.Methods Heel blood of 11914 newborns who were born in Ningbo Women and Children’s Hospital from December 2019 to May 2022 were collected.Then,four common deafness genes,including GJB2(c.35delG,c.176-191del16,c.235delC,and c.299-300delAT),SLC26A4(c.919-2A>G,c.1226G>A,c.1707+5G>A,c.2027T>A,c.1229C>T,c.2168A>G,c.1975G>C,and c.1174A>T),GJB3(c.538C>T)and mtDNA 12S rRNA(m.1494C>T and m.1555A>G)were detected by fluorescence polymerase chain reaction melting curve method.Results Among the 11914 newborns,586 gene mutations were detected,with a detection rate of 4.92%,including 306 cases of GJB2 gene mutations(2.57%),30 cases of GJB3 gene mutations(0.25%),219 cases of SLC26A4 gene mutations(1.84%),23 cases of mitochondrial 12S rRNA gene mutations(0.19%)and 8 cases of newborns carrying two kinds of gene mutations(0.07%).Among them,the detection rate of GJB2 gene c.235delc was the highest,accounting for 1.98%,followed by SLC26A4 gene c.919-2A>G,accounting for 1.19%.Ten newborns with deafness gene mutations were diagnosed with hearing abnormalities during the follow-up.Conclusions The main mutation of newborns deafness gene in some areas of Ningbo is GJB2 gene.Among them,GJB2 gene c.235delC and SLC26A4 gene c.919-2A>G mutations are two common mutation types of deafness gene in newborns in Ningbo.Genetic screening of deafness in newborns plays a great significance for early prevention and early diagnosis of deafness.

关 键 词：耳聋基因 基因突变 筛查 新生儿 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]