新生儿听力和聋病相关基因联合筛查的临床意义

发布时间：2018-06-23 13:31

本文选题：新生儿 + 听力筛查　；参考：《中华耳科学杂志》2014年03期

【摘要】：目的分析1027例新生儿听力筛查和聋病相关基因筛查的结果,探讨新生儿听力和聋病相关基因联合筛查的意义。方法所有新生儿进行听力筛查,初筛和复筛采用耳声发射法(OAE),复筛未通过者3个月行脑干诱发电位(ABR)检测诊断。所有新生儿利用基质辅助激光解吸电离飞行时间质谱检测与耳聋相关的4个基因GJB2、GJB3、SLC26A4及线粒体12SrRNA中的20个突变位点。结果 1027例新生儿中未通过听力初筛者124例,未通过听力检测者12例。检出基因位点突变者52例(5.06%,52/1027)。检出GJB2基因位点突变者31例(3.02%,31/1027),检出SLC26A4基因位点突变者21例(2.04%,21/1027)。结论新生儿听力和基因联合筛查提供了遗传病因信息,对早期诊断部分耳聋患儿非常重要,且对患儿和携带者将来婚前和产前的遗传咨询和指导干预具有关键性的指导作用。
[Abstract]:Objective to analyze the results of hearing screening and deafness related gene screening in 1027 neonates and to explore the significance of combined screening of hearing and deafness related genes in neonates. Methods all the newborns were screened for hearing. The primary screen and the double screen were detected by otoacoustic emission (OAE). The brainstem evoked potential (ABR) was detected for 3 months. Matrix assisted laser desorption ionization time of flight mass spectrometry (TOF-MS) was used to detect 20 mutation sites in 4 deafness related genes (GJB _ 2, GJB _ 3, SLC26A4, and mitochondrial 12s rRNA). Results among the 1027 newborns, 124 cases failed the primary screening of hearing and 12 cases failed the hearing test. The mutation of gene locus was detected in 52 cases (5.06g / 52 / 1027). The mutation of GJB2 gene locus was detected in 31 cases (3.02%) and SLC26A4 locus in 21 cases (2.044% / 1027). Conclusion the combined screening of hearing and gene in neonates provides information on the cause of genetic diseases, which is very important for the early diagnosis of partial deafness in children with partial deafness. It also plays a key role in guiding children and carriers in the future genetic counseling and intervention before and before birth.
【作者单位】：南京医科大学附属无锡妇幼保健院;
【基金】：江苏省妇幼保健科研资助项目(F201225,F201235)
【分类号】：R764

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