广东江门地区新生儿耳聋易感基因筛查分析  

Analysis of genetic screening of neonatal deafness susceptibility genes in Jiangmen district,Guangdong province

作　　者：唐佳 孔琪 郑诗瑶 全庆丽 吴晓昀[6] 黄沁怡 石海弘 周峰 谭淑明 黎箐[2] 冯建江[2] 杨应松[2] 李智明 杨梅 郭奕斌 TANG Jia;KONG Qi;ZHENG Shi⁃yao;QUAN Qing⁃li;WU Xiao⁃yun;HUANG Qin⁃yi;SHI Hai⁃hong;ZHOU Feng;TAN Shu⁃ming;LI Qing;FENG Jian⁃jiang;YANG Ying⁃song;LI Zhi⁃ming;YANG Mei;GUO Yi⁃bin(Key Laboratory of Male Reproduction and Genetics of National Health Commission,Guangdong Provincial Institute of Reproductive Sciences(Guangdong Provincial Fertility Hospital),Guangzhou,Guangdong 510600,China;Medical Genetics Center,Jiangmen Maternity and Child Health Care Hospital,Jiangmen,Guangdong 529000,China;Department of Medical Imaging Center,the First Affiliated Hospital of Jinan University,Guangzhou,Guangdong 510080,China;School of Biological Science and Engineering,South China University of Technology,Guangzhou,Guangdong 510641,China;School of Medicine,Sun Yat⁃sen University,Shenzhen,Guangdong 518107,China;Department of Laboratory Medicine,Guangdong Second Provincial General Hospital,Guangzhou,Guangdong 510317,China)

机构地区：[1]广东省生殖科学研究所(广东省生殖医院)国家卫生健康委员会男性生殖与遗传重点实验室,广东广州510600 [2]江门市妇幼保健院医学遗传中心,广东江门529000 [3]暨南大学附属第一医院医学影像中心,广东广州510080 [4]华南理工大学生物科学与工程学院,广东广州510641 [5]中山大学医学院,广东深圳518107 [6]广东省第二人民医院检验医学部,广东广州510317

出　　处：《热带医学杂志》2022年第12期1616-1620,共5页Journal of Tropical Medicine

基　　金：国家自然科学基金(81600404);吴阶平医学基金(320.6750.19089-73);2020年广东省科技创新战略专项资金(2020A111129034);广州市分子与功能影像临床转化重点实验室开放基金资助(201905010003);广东省医学科研基金(A2022104);广东省遗传病基因检测工程技术研究中心;广东省第二人民医院青年科研项目基金(2017017)

摘　　要：目的探讨广东江门地区新生儿常见耳聋基因的突变情况及携带率。方法采集2016-2020年出生于江门市妇幼保健院的34206名新生儿血样,利用PCR结合导流杂交技术检测与遗传性耳聋相关的4个基因(GJB2、GJB3、SLC26A4和12S rRNA)的21个易感位点。结果共筛查出1218例(3.561%,1218/34206)新生儿携带遗传性耳聋相关基因突变。其中,596例(1.742%)新生儿仅携带GJB2基因杂合突变,72例(0.210%)仅携带GJB3基因杂合突变,436例(1.275%)仅携带SLC26A4基因杂合突变,80例(0.234%)仅携带线粒体12S rRNA基因均质或异质突变,单基因纯合突变/复合杂合突变和双基因杂合突变共检出34例(0.099%)。GJB2、GJB3、SLC26A4和线粒体12S rRNA基因突变的检出率分别为1.804%、0.213%、1.341%和0.237%。结论对江门地区新生儿耳聋易感基因位点筛查检测,有助于调查江门地区常见耳聋基因突变情况,可早期诊断和治疗新生儿耳聋,减少耳聋的发生,为江门市新生儿耳聋出生缺陷的防治提供理论指导。Objective To investigate the mutation and carrying rate of familiar deafness genes from Jiangmen area of Guangdong province.Method Blood samples from the heel of 34206 newborn infants were collected in Jiangmen Maternity and Child Health Care Hospital from 2016 to 2020,and 21 hot spots of four familiar genes associated with hereditary deafness(GJB2,GJB3,SLC26A4 and 12S rRNA)were detected by PCR combined with flow-through hybridization.Results A total of 1218 newborns(3.561%,1218/34206)were found to carry genetic deafness-related mutations.Among them,596 neonates(1.742%)carried only heterozygous mutations of GJB2 gene,72(0.210%)carried only heterozygous mutations of GJB3 gene,436(1.275%)carried only heterozygous mutations of SLC26A4 gene,and 80(0.234%)carried only homogenous or heterogenous mutations of mitochondrial 12S rRNA gene.Thirty-four neonates(0.099%)were found to carry single-gene homozygous mutations,single-gene complex heterozygous mutations or doublegene heterozygous mutations.The detection rates of GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA mutations were 1.804%,0.213%,1.341%and 0.237%,respectively.Conclusion sThrough in vitro screening and detection of neonatal deafness susceptibility gene in Jiangmen area,the purpose of early diagnosis and treatment of newborn deaf children were achieved.Investigate the common deafness gene mutations in Jiangmen area could reduce the occurrence of neonatal deafness,and provide theoretical guidance for the prevention and treatment of newborn deafness birth defects in Jiangmen city.

关 键 词：耳聋基因 突变检测 导流杂交 新生儿筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]