西安地区4057例孕妇遗传性耳聋基因产前筛查及临床意义

Analysis on prenatal screening and clinical significance of deafness genes in 4057 pregnant women in Xi′an area

目的探讨西安地区4057例孕妇遗传性耳聋基因产前筛查的情况。方法选取2016年1月至2022年1月于该院妇产科门诊就诊的4057例孕早期孕妇作为研究对象,采集外周血采用聚合酶链反应/寡核苷酸探针导流杂交法检测4个热点基因的9种突变位点并进行分析,包括GJB2基因上4种突变型(35del G、176-191del 16、235del C、299-300del AT)、GJB3基因上1种突变型(538C>T)、SLC26A4基因上两种突变型(IVS7-2A>G、2168A>G)、线粒体12SrRNA基因上两种突变型(1494C>T、1555A>G)。结果在4057例研究对象中,携带遗传性耳聋基因突变154例,检出率为3.796%(154/4057),其中93例(2.292%)携带GJB2基因突变,39例(0.961%)携带SLC26A4基因突变,5例(0.123%)携带GJB3基因突变,13例(0.320%)携带线粒体12SrRNA基因突变,另外有4例(0.099%)是双基因突变携带者。8对夫妻携带同一基因的致病突变,11对夫妻分别携带不同基因的致病突变。结论西安地区健康人群中遗传性耳聋基因的检出率为3.796%,且以GJB2基因235del C位点突变为最多,其次为SLC26A4基因IVS7-2A>G位点突变,对育龄夫妇进行遗传性耳聋基因筛查,针对高风险夫妇进行专业遗传咨询及优生优育指导,有助于减少该地区非综合征型遗传性耳聋儿出生,对遗传性耳聋的预防和控制工作具有重要价值。

Objective To explore the prenatal screening status of deafness genes in 4057 pregnant women in Xi′an area.Methods From January 2016 to January 2022,4057 pregnant women in the Department of Gynecology and Obstetrics of our hospital were selected as the research objects.Peripheral blood was collected.PCR/oligonucleotide probe guided hybridization was used to detect 9 kinds of mutation sites of 4 hot spot genes for analysis,including 4 mutations on GJB2 gene(35del G,176-191del 16,235del C,299-300del AT),1 mutation on GJB3 gene(538C>T),and 2 mutations gene on SLC26A4 gene(IVS7-2A>G,2168A>G),two mutations in 12SrRNA gene(1494C>T,1555A>G).Results Among the 4057 cases subjects,154 cases carried deafness gene mutation,with a detection rate of 3.796%(154/4057),of which 93 cases(2.292%)carried GJB2 gene mutation,39 cases(0.961%)carried SLC26A4 gene mutation,5 cases(0.123%)carried GJB3 gene,13 cases(0.320%)carried mitochondrial 12SrRNA gene,and 4 cases(0.099%)were multi mutation gene carriers.Eight couples were both carriers of the same gene for deafness,eleven couples were carriers of different genes for deafness.Conclusion In the normal population of Xi′an,the carrying rate of deafness gene is 3.796%,and GJB2 gene 235del C locus mutation was the most,followed by SLC26A4 gene IVS7-2A>G locus mutation,genetic deafness gene screening for couples of childbearing age,professional genetic counseling and prenatal and postnatal guidance for high-risk couples are helpful to reduce the birth of non-syndromic hereditary deaf children in this area,which is of great value to the prevention and control of hereditary deafness.