孕妇常见耳聋基因突变位点筛查及临床意义

Clinical significance and screening of common gene mutation sites of deafness in pregnant women

目的对孕妇常见耳聋基因突变位点筛查,为降低耳聋患儿出生提供理论依据。方法对2020年3月至2021年12月空军军医大学第一附属医院600例孕妇行耳聋基因突变位点筛查,若孕妇为耳聋基因携带者,对其配偶同时进行耳聋基因筛查,并对存在耳聋高风险的胎儿进行产前诊断。结果600例正常孕妇中共检出耳聋基因突变携带者27例,携带率为4.5%。GJB2、GJB3、SLC26A4、12SrRNA基因突变携带率分别为2.83%(17/600)、0.17%(1/600)、1.33%(8/600)、0.17%(1/600)。3对夫妻为同一基因突变携带者,进行产前诊断发现SLC26A4 IVS7-2A>G纯合突变2例,GJB2235delC、299-300delAT复合杂合突变1例。结论常见耳聋基因突变在正常人群中有较高的携带率,听力正常的夫妻在孕前、产前行耳聋基因筛查可有效预防遗传性耳聋患儿的出生。

Objective To screen common gene mutation sites of deafness in pregnant women and provide a theoretical basis for reducing the birth of deaf children. Methods 600 pregnant women who visited our hospital during March2020 to December 2021 were screened for common gene mutation sites. Spouses of pregnant women carrying gene mutations were analyzed at the same time, and prenatal diagnosis were performed in high risk fetuses of deafness. Results A total of 27cases of deafness gene carriers were detected in 600 pregnant women, and the detection rate was 4.5%. The GJB2, GJB3,SLC26A4, 12SrRNA gene mutation carriers were 17, 1, 8, and 1 cases and the carrying rates were 2.83%, 0.17%, 1.33% and0.17%, respectively. Three couples were confirmed to carriers of the same gene mutation of deafness and 2 cases of SLC26A4IVS7-2A>G homozygous mutations and 1 case of GJB2 235delC, 299-300delAT compound heterozygous mutations were found by prenatal diagnosis. Conclusion Common gene mutations of deafness have a higher carrying rate in the normal population, so the couples with normal hearing were suggested to screen for common gene mutation sites before pregnancy and delivery to effectively prevent the birth of hereditary deaf children.