CAJ | 학술논문

目的：研究新生儿听力和聋病易感基因联合筛查的临床意义。方法：选择1440例生后3～5 d 的新生儿，检测 GJB2、线粒体12S rRNA 及 SLC26A4等3个基因8个突变位点；同时进行听力筛查，复筛仍不通过者行听力学诊断。结果：GJB2基因235delC、299-300delAT、线粒体12S rRNA 1555A ＞ G、 SLC26A4基因IVS7-2A ＞ G、2168A ＞ G 等位点致病突变的携带率分别为1．46％、0．35％、0．42％、0．42％及0．14％，3个基因突变的总体携带率为2．78％；听力筛查及诊断确诊听力损失10例（检出率为6．94‰），其中重度以上听力损失5例（检出率为3．47‰）；32例聋病基因致病突变携带者通过了新生儿听力筛查。结论：听力和聋病易感基因联合筛查能及时发现常规通过听力筛查但具有耳聋高危因素和迟发性聋病遗传因素的新生儿，对早期干预、定期随访、减少聋病发生具有重要指导意义。
목적：연구신생인은력화롱병역감기인연합사사적림상의의。방법：선택1440례생후3～5 d 적신생인，검측 GJB2、선립체12S rRNA 급 SLC26A4등3개기인8개돌변위점；동시진행은력사사，복사잉불통과자행은역학진단。결과：GJB2기인235delC、299-300delAT、선립체12S rRNA 1555A ＞ G、 SLC26A4기인IVS7-2A ＞ G、2168A ＞ G 등위점치병돌변적휴대솔분별위1．46％、0．35％、0．42％、0．42％급0．14％，3개기인돌변적총체휴대솔위2．78％；은력사사급진단학진은력손실10례（검출솔위6．94‰），기중중도이상은력손실5례（검출솔위3．47‰）；32례롱병기인치병돌변휴대자통과료신생인은력사사。결론：은력화롱병역감기인연합사사능급시발현상규통과은력사사단구유이롱고위인소화지발성롱병유전인소적신생인，대조기간예、정기수방、감소롱병발생구유중요지도의의。
Objective To investigate the clinic signification of newborn hearing screening combined with deafness susceptibility genes screening. Methods 1 440 newborns(3 ~ 5 days after birth) were screened for 8 hot spot hearing loss associated mutations from GJB2, mt12S rRNA and SLC26A4. At the same time, all infants received hearing screening. Those who failed to pass two-step test were referred to further audiological assessment. Results The carrier rate of commonmutations was 1.46% for GJB2 c.235delC, 0.35% for GJB2 c.299-300delAT, 0.42% for mt12S rRNA c.1555A > G, 0.42% for SLC26A4 c.IVS7-2A > G and 0.14% for SLC26A4 c.2168A > G. The total carrier rate was 2.78%. 10 infants were diagnosed as hearing loss in the hearing screening and follow-up audiology assessment (6.94‰) and 5 were diagnosed as severe hearing loss (3.47‰). 32 hearing loss associated mutation carriers passed the hearing screening. Conclusions Genetic screening of newborn hearing screening can be helpful to find out neonates with late-onset and progressive hearing impairment, which were significant for early intervention, regular follow-up and reduction of deafness.