摘要
目的调查佛山市未通过新生儿听力筛查的小儿聋病易感基因筛查情况,了解本地区遗传性聋发生及基因突变特点。方法对佛山市416例新生儿听力筛查未通过且已确诊为听力损失的小儿进行常见的4个耳聋基因的20个突变位点(GJB2基因:235de1C,167de1T,176_191de116 GCTGCAAGAACGTGTG,299_300de1AT,35de1G;GJB3基因:538C>T,547G>A;SLC26A4基因:IVS7-2A>G,281C>T,1174A>T,1226G>A,IVS15+5G>A,1975G>C,2027T>A,2162C>T,1229C>T,589G>A,2168A>G;线粒体12SrRNA基因:1494C>T,1555A>G)进行检测。结果 416例患儿中,检出耳聋基因突变40例(9.62%,40/416),其中GJB2基因突变22例,占55.00%(22/40)),SLC26A4突变基因18例,占45.00%(18/40)。双耳重度及以上听力损失小儿GJB2基因突变致病率较高,而轻、中度听力损失小儿SLC26A4基因突变致病率较高。结论佛山市听力筛查未通过的新生儿聋病易感型基因筛查中GJB2、SLC26A4基因突变检出率较高。
Objective To investigate the susceptible genes of deafness in newborns who failed hearing screening,and to understand the prevalence and distribution of hereditary deafness in Foshan.Methods We conducted the detection of susceptible genes of deafness on 416 newborns who failed hearing screening,testing the 20 mutation sites of the 4 common deafness genes(GJB2,GJB3,SLC26A4,and mitochondrial 12SrRNA).They were 235de1C,167de1T,176_191de116 GCTGCAAGAACGTGTG,299_300de1AT,35de1G for GJB2;538C>T,547G>A for GJB3;IVS7-2A>G,281C>T,1174A>T,1226G>A,IVS15+5G>A,1975G>C,2027T>A,2162C>T,1229C>T,589G>A,2168A>G for SLC26A4;and 1494C>T,1555A>G for mitochondrial 12SrRNA.Results Among the 416 patients,40(9.62%,40/416)had deafness gene abnormalities.22 of them had GJB2 gene abnormalities,accounting for 55.00%of the total(22/40).While 18 had SLC26A4,45.00%of the total(18/40).Patients with severe hearing loss in the both ears were more likely to have GJB2 gene abnormalities,while patients with mild or moderate hearing loss were more likely to have SLC26A4 abnormality.Conclusion In the city of Foshan,GJB2,SLC26A4 gene mutations are more common among newborns who failed hearing screening.
作者
余凤慈
虞幼军
何清泉
李振安
张章
刘莹
刘芸
罗伟东
Yu Fengci;Yu Youjun;He Qingquan;Li Zhenan;Zhang Zhang;Liu Ying;Liu Yun;Luo Weidong(Department of Hearing Centre,Maternal and Child Health Hospital of Foshan,Foshan,528000,China)
出处
《听力学及言语疾病杂志》
CAS
CSCD
北大核心
2018年第6期596-598,共3页
Journal of Audiology and Speech Pathology
基金
广东省佛山市科技局2015年佛山市医学类科技攻关项目(2015AB00391)
关键词
新生儿
听力筛查
耳聋
基因突变
Newborns
Hearing screening
Deafness
Gene mutations
