枣庄市4129例孕妇常见耳聋基因筛查结果及临床意义分析

Analysis on deafness gene screening results and clinical significance of 4 129 pregnant women in Zaozhuang city

目的分析枣庄市4129例孕妇常见耳聋基因突变位点筛查结果,探讨枣庄市孕期女性常见耳聋基因突变分布特点及耳聋基因筛查的临床意义。方法选取2020年10月至2022年4月就诊于枣庄市妇幼保健院进行耳聋基因筛查的4129例孕妇为研究对象,经知情同意后采集外周血,利用高通量测序法检测18个耳聋相关基因共100个突变位点,分析各突变位点的检出率及分布情况。对耳聋基因携带者孕妇的配偶进行基因测序,并对孕妇妊娠结局进行随访。结果在4129例受检者中,共检出311例携带耳聋基因突变,总体突变携带率为7.53%。其中,GJB2突变携带者140例(3.39%),SLC26A4突变携带者105例(2.54%),GJB3突变携带者21例(0.51%),线粒体12S rRNA突变携带者34例(0.82%),TMC1突变携带者1例(0.02%),纯合或复合杂合突变者4例(0.10%),双基因突变携带者6例(0.15%)。线粒体12S rRNA基因突变者均未出现听力缺失,其新生儿也均通过了听力筛查。结论在枣庄市孕期女性常见耳聋基因突变位点中,阳性检出率较高的3种变异分别是GJB2235 del C(2.47%)、SLC26A4 IVS7-2 A>G(1.24%)和GJB2299 del AT(0.63%)。线粒体12S rRNA基因突变者均未出现听力缺失,与目前临床对氨基糖苷类药物的控制使用有关。针对产前孕妇进行耳聋基因热点变异筛查,明确本地区耳聋基因突变的人群特点,对有效实现遗传性耳聋的二级预防具有重要意义。

Objective To analyze the common deafness gene mutation site screening results of 4129 pregnant women in Zaozhuang city,and to explore the common deafness gene mutation distribution characteristics of pregnant women in Zaozhuang city and the clinical significance of deafness genetic screening.Methods A total of 4129 pregnant women who were admitted in Maternity and Child Health Care of Zaozhuang from October 2020 to April 2022 for deafness gene screening were selected as the study objects.Peripheral blood was collected after informed consent.A total of 100 mutation sites of 18 deafness-related genes were detected by high-throughput sequencing method,and the detection rate and distribution of each mutation site were analyzed.Genetic sequencing was performed on the spouses of pregnant women with deafness gene carriers,and pregnancy outcomes were followed up.Results Among 4129 objects,311 were found to carry the deafness gene mutation,with an overall mutation carrying rate of 7.53%.Among them,140 carriers(3.39%)of GJB2 mutation,105 carriers(2.54%)of SLC26A4 mutation,21 carriers(0.51%)of GJB3 mutation,34 carriers(0.82%)of mitochondrial 12S rRNA mutation,1 carrier(0.02%)of TMC1 mutation,4 cases(0.10%)of homozygous or complex heterozygous mutation,and 6 cases(0.15%)of dual-gene mutation carriers.None of those with mitochondrial 12S rRNA gene mutations had hearing loss,and all of their newborns passed hearing screening.Conclusion Among the common deafness gene mutation sites in pregnant women in Zaozhuang city,the three variants with high positive detection rates are GJB2235 del C(2.47%),SLC26A4 IVS7-2 A>G(1.24%)and GJB2299 del AT(0.63%).None of the patients with mitochondrial 12S rRNA gene mutation had hearing loss,which is related to the controlled use of aminoglycosides in the clinic.It is of great significance for the secondary prevention of hereditary deafness to screen the hot spot variation of deafness gene in prenatal pregnant women and identify the population characteristics of deafness gene mutation in local area.