东莞地区319例耳聋高危人群耳聋基因筛查及产前诊断  

Deafness Gene Screening and Prenatal Diagnosis of Deafness in High-risk Population in Dongguan Area: A Report of 319 Cases

作　　者：付有晴 娄季武[1] 赵颖[1] 李根洪 骆玥瑜 谭淑娟 刘彦慧[1] FU Youqing;LOU Jiwu;ZHAO Ying;LI Genhong;LUO Yueyu;TAN Shujuan;LIU Yanhui(Maternal and Child Health Hospital of Dongguan,Dongguan,Guangdong,523000)

机构地区：[1]东莞市妇幼保健院,东莞523000

出　　处：《中华耳科学杂志》2021年第6期920-924,共5页Chinese Journal of Otology

基　　金：东莞市社会发展项目(编号:201950715007957)。

摘　　要：目的对东莞地区耳聋高危人群进行常见耳聋基因检测,探寻可能的耳聋致病病因,并提供准确的遗传咨询和产前诊断。方法对所有高危人群采集静脉血提取基因组DNA,应用Sanger测序技术对GJB2、SLC26A4、线粒体DNA 12Sr RNA和GJB3等4个基因43个位点进行检测分析,对于夫妇双方均为耳聋基因携带者,在知情同意下行产前诊断,测定胎儿基因型,预测胎儿听力状态。结果在319例耳聋高危人群中,发现182例携带致聋基因突变,检出率57.05%。其中GJB2基因突变109例(纯合突变和复合杂合突变24例,杂合突变85例),占59.89%;SLC26A4基因突变52例(纯合突变和复合杂合突变8例,杂合突变44例),占28.57%;线粒体DNA 12Sr RNA基因突变13例,占7.14%;GJB3基因杂合突变4例,占2.20%;GJB2/SLC26A4双杂合突变3例,占1.65%;GJB3/SLC26A4双杂合突变1例,占0.55%。共有6例孕妇进入产前诊断流程,结果提示1例胎儿为GJB2纯合突变,在知情同意下已终止妊娠;4例为GJB2杂合突变,1例为正常,随访至出生,均通过了听力筛查。结论耳聋基因检测对耳聋病因分析及产前咨询和诊断意义重大,可有效降低再生育聋儿的风险。Objective To report detection of common deafness genes in a high-risk group for deafness in Dongguan and possible causes of deafness for accurate genetic counseling and prenatal diagnosis. Methods Venous blood was collected from individuals in this high-risk population to extract genomic DNA, and Sanger sequencing was applied to detect and analyze 43 loci of 4 genes, including GJB2, SLC26A4, mitochondrial DNA 12 Sr RNA and GJB3. For couples in whom both were deaf gene carriers, prenatal diagnosis was perform with informed consent to determine fetal genotype and predict hearing state. Results Among 319 high-risk individuals for deafness, 182(57.05%) were found to carry deafness gene mutations, involving the GJB2(n=109, 59.89%, including 24 cases of homozygous or compound heterozygous mutations and 85 cases of heterozygous mutations), SLC26A4(n=52, 28.57%, including 8 cases of homozygous or compound heterozygous mutations and 44 cases of heterozygous mutations), mtDNA12 Sr RNA(n=13,7.14%) and GJB3 genes(n=4 heterozygous mutations, 2.20%). There were 3 cases of GJB2/SLC26A4 double heterozygous mutation(1.65%) and 1 case of GJB3/SLC26A4 double heterozygous mutation(0.55%). A total of 6 pregnant women entered the prenatal diagnosis process, which showed homozygous GJB2 mutations in 1 fetus, resulting in termination of the pregnancy with informed consent, monoheterozygous GJB2 mutations in 4 cases and normal genotype in 1 case. Follow-up results showed normal hearing after birth in the latter 5 cases. Conclusion Deafness genetic testing is of great significance for identification of the cause of deafness, prenatal consultation and diagnosis, and it can effectively reduce the risk of deafness at birth.

关 键 词：遗传性耳聋 基因突变 产前诊断 遗传咨询 

分 类 号：R764[医药卫生—耳鼻咽喉科]