新生儿听力和聋病易感基因联合筛查报告

发布时间：2019-05-21 10:32

【摘要】：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1 440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 1555AG、SLC26A4基因IVS7-2AG、2168AG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。
[Abstract]:Objective: to study the clinical significance of combined screening of hearing and deaf susceptible genes in neonates. Methods: eight mutation sites of three genes, 12s rRNA and SLC26A4, were detected in 1440 neonates after 3 to 5 days after birth, and hearing screening was performed at the same time, and audiological diagnosis was performed in those who did not pass the screening. Results: the carrying rates of 235delC, 299300delAT and 12S rRNA 1555AG of GJB2 gene were 1.46%, 0.35%, 0.42%, 0.42% and 0.14%, respectively, and the carrying rates of SLC26A4 gene were 1.46%, 0.35%, 0.42%, 0.42% and 0.14%, respectively. The overall carrying rate of the three gene mutations was 2.78%. There were 10 cases of hearing loss diagnosed by hearing screening and diagnosis (the detection rate was 6.94%), including 5 cases of severe hearing loss (the detection rate was 3.47%), and 32 cases of deaf gene mutation carriers passed the neonatal hearing screening. Conclusion: combined screening of hearing and deaf susceptible genes can timely detect neonates who pass hearing screening but have high risk factors of deafness and genetic factors of delayed deafness. It is of great guiding significance to reduce the incidence of deaf diseases.
【作者单位】：南方医科大学附属佛山妇幼保健院新生儿科;南方医科大学附属佛山妇幼保健院儿科;南方医科大学附属佛山妇幼保健院耳鼻咽喉科听力障碍诊治中心;南方医科大学附属佛山妇幼保健院保健部;
【基金】：广东省佛山市科技局2012年佛山市医学类科技攻关项目(编号:201208056)
【分类号】：R764

【参考文献】