南宁地区新生儿遗传性耳聋基因突变结果分析  

Analysis of genetic mutations in newborns with hereditary deafness in Nanning

作　　者：黄小桃 林彩娟[1,2] 林飞 徐钰琪[1,2] 李威 罗静思 耿国兴[1,2] HUANG Xiaotao;LIN Caijuan;LIN Fei;XU Yuqi;LI Wei;LUO Jingsi;GENG Guoxing(Maternal and Child Health Care of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530003,China;Guangxi Birth Defects Prevention and Control Institute,Nanning,Guangxi 530003,China)

机构地区：[1]广西壮族自治区妇幼保健院,广西南宁530003 [2]广西出生缺陷预防控制研究所,广西南宁530003

出　　处：《中国优生与遗传杂志》2021年第6期867-869,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划(2017YFC1001703);广西卫健委自筹课题(Z2016702)。

摘　　要：目的了解南宁地区新生儿遗传性耳聋基因突变情况,并探讨其在遗传性耳聋防治中的重要性。方法选取2016年1月—2019年12月在广西壮族自治区妇幼保健院行遗传性耳聋基因筛查的56522例新生儿,采集足跟血送往深圳华大基因临床检验中心采用目标序列捕获与测序的方法对4个常见耳聋基因的20个突变位点进行检测。结果在56522例新生儿中,共检出阳性1231例,总携带率为2.178%。其中,GJB2基因突变644例,携带率1.139%;SLC26A4基因突变427例,携带率0.755%;GJB3基因突变83例,携带率0.147%;12S rRNA基因突变77例,携带率0.136%。结论南宁地区新生儿遗传性耳聋基因主要以GJB2和SLC26A4突变为主,而GJB3基因和线粒体12S rRNA基因突变携带率较低。通过遗传性耳聋基因筛查,有助于临床的早期诊断和咨询,预防出生缺陷的发生。Objective In order to understand the genetic mutations of neonatal hereditary deafness in Nanning and explore its importance in the prevention and treatment of hereditary deafness.Methods Selected 56522 newborns who were screened for genetic deafness at the Maternal and Child Health Care of Guangxi Zhuang Autonomous Region from January 2016 to December 2019,Heel blood was collected and sent to Shenzhen Huada Gene Clinical Laboratory Center to detect 20 mutation sites of 4 common deafness genes using target sequence capture and sequencing methods.Results Among 56522 newborns,1231 were positive,and the total carrier rate was 2.178%.Among them,644 cases of GJB2 gene mutation,the carrying rate was 1.139%;427 cases of SLC26A4 gene mutation,carrying rate 0.755%;83 cases of GJB3 gene mutation,carrying rate 0.147%;77 cases of 12S rRNA gene mutation,carrying rate 0.136%.Conclusion The common genetic mutation types of neonatal deafness in Nanning are mainly GJB2 gene and SLC26A4 gene mutation.The GJB3 gene and mitochondrial 12S rRNA gene mutation carrying rate is low.Genetic screening for hereditary deafness is helpful for early clinical diagnosis and consultation to prevent birth defects.

关 键 词：新生儿 遗传性耳聋基因突变 突变携带率 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R722.1[医药卫生—临床医学]