宁波新生儿遗传性耳聋基因突变1781例分析  

Deafness Gene Mutations in Ningbo:1781 Newborns Study

作　　者：鲍幼维 潘小莉[1] 潘澍青 潘婕文[1] 李海波 BAO You-wei;PAN Xiao-li;PAN Shu-qing;PAN Jie-wen;LI Hai-bo(Ningbo Municipal Key Laboratory of Comprehensive Prevention and Treatment of Birth Defects,Ningbo Women and Children's Hospital,Ningbo,Zhejiang 315012,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,浙江宁波市315012

出　　处：《中国康复理论与实践》2020年第5期607-609,共3页Chinese Journal of Rehabilitation Theory and Practice

基　　金：浙江省医药卫生科技计划项目(No.2020KY889);国家人口与生殖健康科学数据中心项目(No.2005DKA32408);宁波市创新团队项目(No.2014B82003)。

摘　　要：目的分析宁波市遗传性耳聋基因的突变类型和频率。方法2019年1月至9月,对在宁波市妇女儿童医院出生的1781例新生儿进行耳聋基因筛查,包括4个常见基因位点,22个突变热点。结果共检出耳聋基因突变104例(5.84%),其中男性59例,女性45例。GJB2基因突变率3.31%(59/1781),GJB3基因突变率0.56%(10/1781),mtDNA基因突变率0.39%(7/1781),SLC26A4基因突变率1.57%(28/1781)。结论宁波新生儿耳聋基因总突变率稍高于全国水平,GJB2基因突变尤为突出,应加强新生儿耳聋基因筛查。Objective To analyze the mutation types and frequency of deafness genes in Ningbo newborns.Methods From January to September,2019,1781 newborns in Ningbo Women and Children’s Hospital accepted deafness gene screening,including 22 mutations of four common deafness genes.Results There were 104 newborns who were found deafness gene mutation(5.84%),59 boys and 45 girls.Mutation rate was 3.31%(59/1781)for GJB2,0.56%(10/1781)for GJB3,0.39%(7/1781)for mtDNA,and 1.57%(28/1781)for SLC26 A4.Conclusion The mutation rate of deafness gene in newborns in Ningbo is higher than the China average level,especially the rate of GJB2.It is necessary to screen newborn deafness gene earlier.

关 键 词：遗传性耳聋 新生儿 听力筛查 基因突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]