42708例新生儿耳聋基因筛查结果分析  

An analysis of deafness genes screening in 42708 newborns

作　　者：耿国兴[1,2] 林彩娟 黄小桃[1,2] 李威 范歆 陈少科[1,2] 邹茹 GENG Guo-xing;LIN Cai-juan;HUANG Xiao-tao;LI Wei;FAN Xin;CHEN Shao-ke;ZOU Ru(Laboratory of Genetics and Metabolism,Maternal and Child Health Hospital of Guangxi,Nanning,Guangxi 530003,China)

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西南宁530023 [2]广西壮族自治区新生儿疾病筛查中心,广西南宁530023 [3]深圳华大基因临床检验中心,广东深圳518083

出　　处：《中华全科医学》2020年第10期1688-1690,共3页Chinese Journal of General Practice

基　　金：国家重点研发计划(2017YFC1001703)。

摘　　要：目的了解南宁市区新生儿常见耳聋基因的突变类型和突变携带率,并就耳聋基因检测结果进行评价,为遗传性耳聋的远期预防和临床诊断提供依据。方法对2016年1月-2018年12月在广西壮族自治区妇幼保健院产科出生、儿科门诊以及耳鼻喉科门诊进行筛查的42708例新生儿,应用基质辅助激光解析-飞行时间质谱法筛查在我国常见的4个基因包括20个位点GJB2(35delG、176-191del16、167delT.299_300delAT、235delC).GJB3(538C>T.547G>A)、SLC26A4(281C>T.589G>A.1174A>T,1226G>A.IVS7-2A>G.1229C>T.1975G>C、2162C>T、2027T>A、IVSI5+5G>A、2168A>G)、和线粒体12SrRNA(1555A>G.1494C>T)。结果42708例新生儿中检出基因突变940例,总体阳性检出率为2.201%,其中GJB2基因突变492例,突变携带率约1.152%;CJB3基因突变61例,突变携带率约0.143%;SLC26A4基因突变320例,突变携带率约0.749%;线粒体12SrRNA基因突变57例,突变携带率约0.133%。同时检出复合杂合突变I例,双杂合突变9例。结论本研究中主要的突变基因是GJB2和SLC26A4,主要的突变位点是235delC和IVS7-2A>G,开展新生儿听力筛查与耳聋基因联合检测有助于耳聋的早期预防特别是药物性耳聋的预防,对降低耳聋发生和出生缺陷的发生有重要意义。Objective To understand the mutation type and mutation carrying rate of the common deafness genes of the newborn in Nanning City,evaluate the deteection results of deafness genes,and provide the basis for the long-term preven-tion and clinical diagnosis of herediary deafness.Methods A total of 42708 newborns were ollected in Obtetrie,Paediatric Clinie and Otolaryngology Clinie of Guangxi Matermal and Child Health Hospital from January 2016 to Decem-ber 2018.Four common genes in China were screened by Matrix assisted laser desorption ionization time of flight mass spectrometry,including 20 mutation loci of GJB2(35delG,176-191del16,167delT,299_300delAT,235delC),GJB3(538C>T,547G>A),SLC26A4(281C>T,589G>A,1174A>T,1226G>A,IVS7-2A>G,1229C>T,1975G>C,2162C>T,2027T>A,IVS15+5G>A,2168A>C),and Mt12SrRNA(1555A>G,1494C>T).Re-sults Among 42708 newborns,940 had gene mutation,with a total positive detection rate of 2.201%,including 492 GJB2 mutations(1.152%),61 GJB3 mutations(0.143%),320 SLC26A4 mutations(0.749%)and 57 Mt12SrRNA mutations(0.133%).Meanwhile 1 compound heterozygote and 9 double heterozygotes were founded.Conclusion In this study,GJB2 and SLC26A4 were the major mutations,and 235delC and IVS72A were the major loci.The combined screening of newborm hearing and deafness gene is important to prevention of deafness,especially the prevention of drug-induced deafness,and is the great significance in reducing the occurrenrce of deafness and birth dects.

关 键 词：新生儿筛查 耳聋基因 突变分析 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R729[医药卫生—临床医学]