965例新生儿听力及聋病易感基因联合筛查结果分析

发布时间：2018-04-01 20:05

本文选题：新生儿　切入点：听力筛查　出处：《听力学及言语疾病杂志》2015年03期

【摘要】：目的探讨新生儿听力及聋病易感基因联合筛查的临床意义。方法选择出生后3~5天的965例新生儿,采集足跟血提取基因组DNA进行耳聋易感基因[线粒体12SrRNA c.1555AG、c.1494CT,GJB2基因35delG、167delT、176_191del16、235delC、299_300delAT,GJB3基因538CT、547GA,SLC26A4(PDS)基因281CT、589GA、IVS7-2AG、1174AT、1226GA、1229CT、IVS15+5GA、1975GC、2027TA、2162CT、2168AG]的位点检测;同时进行听力筛查,初筛采用筛查型耳声发射(DPOAE),复筛采用筛查型OAE结合自动判别听性脑干反应(AABR),分析两种筛查的结果。结果 965例中53例(5.49%)存在耳聋基因突变,其中,1例为线粒体12SrRNA c.1555G突变,33例为GJB2基因突变,18例为SCL26A4基因突变,1例为GJB3基因突变;听力初筛未通过28例,复筛未通过18例,10例在3月龄时进行了听力学诊断,最终确诊6例新生儿听力损失。965例中,听力筛查与基因筛查均通过905例,均未通过11例,听力筛查通过但基因筛查未通过42例,听力筛查未通过但基因筛查通过7例。结论新生儿听力和聋病易感基因联合筛查,可发现单纯听力筛查不能发现的部分药物性聋和迟发性聋患儿。
[Abstract]:Objective to investigate the clinical significance of combined screening of hearing and deafness susceptibility genes in newborns. Genomic DNA was collected from heel blood for detection of deafness susceptibility gene [mitochondrial 12SrRNA c. 1555 AGN c. 1494 CTG JB2 35delGn167delTB2 gene 176191del16235delC299300delC299300delGJB3 gene 538CTT 547GASSL26A4PDS) gene 281CTC26A4PDS- 281CTT 547 GAV IVS7-2AGC1174AT1226GA1226GA122929 IVS15 5GC2027TA2162CT168AG); Screening otoacoustic emission (OAE) DPOAEN was used for primary screening, and screening type OAE combined with automatic discriminant auditory brainstem response (ABR) was used to analyze the results of the two screening methods. Results there was a mutation of deafness gene in 53 of 965 cases. One case was mitochondrial 12SrRNA c. 1555G mutation 33 cases were GJB2 gene mutation 18 cases were SCL26A4 gene mutation 1 case was GJB3 gene mutation. Audiological diagnosis was made in 28 cases of hearing failure and 18 cases of complex sieve failure at the age of 3 months. Among the 6 confirmed cases of neonatal hearing loss, 905 cases passed hearing screening and gene screening, none passed 11 cases, 42 cases passed hearing screening, but 42 cases passed gene screening. Conclusion combined screening of hearing and deafness susceptibility genes in newborns can find part of drug induced deafness and delayed deafness which can not be detected by simple hearing screening.
【作者单位】：扬州大学临床医学院耳鼻咽喉头颈外科;扬州大学医学院附属医院江苏省苏北人民医院耳鼻咽喉科;
【基金】：江苏省社会发展项目(BE2012706)资助
【分类号】：R764

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