未通过新生儿听力筛查的婴幼儿耳聋基因与AABR联合筛查结果分析

发布时间：2018-03-13 14:05

本文选题：婴幼儿　切入点：耳聋基因　出处：《听力学及言语疾病杂志》2017年06期 　论文类型：期刊论文

【摘要】：目的探讨耳聋基因与听力联合筛查对婴幼儿听力损失诊断的意义。方法对2015年10月至2016年12月未通过新生儿听力筛查转诊至合肥市妇幼保健所的505例婴幼儿进行AABR复筛,同时采集足跟血制成干滤纸片,对常见的4个耳聋基因的9个位点进行筛查,包括:GJB2(235delC、299delAT、176del16、35delG)、GJB3(538CT)、SLC26A4(IVS7-2AG、2168AG)、线粒体12SrRNA(1555AG、1494CT)。结果 505例婴幼儿中有69例(13.7%,69/505)携带耳聋易感基因突变,其中GJB2基因突变56例(81.16%,56/69),SLC26A4基因突变10例(14.49%,10/69),线粒体12SrRNA基因突变3例(4.35%,3/69),未检出GJB3基因突变。505例中,AABR筛查未通过376例,未通过率为74.46%;69例耳聋基因突变婴幼儿中有37例进行了ABR检测,其中32例(86.49%)存在不同程度听力损失。结论本组婴幼儿耳聋基因突变类型以GJB2基因为主,其次为SLC26A4基因,耳聋基因筛查是听力筛查的有效补充,两者联合筛查有利于婴幼儿听力损失的早期发现和干预。
[Abstract]:Objective to explore the significance of combined screening of deafness gene and hearing for the diagnosis of hearing loss in infants. Methods AABR screening was performed in 505 infants who were not transferred to Hefei Maternal and Child Health Institute from October 2015 to December 2016. At the same time, the heel blood was collected to make dry filter paper, and 9 loci of 4 common deafness genes were screened, including: GJB2A235delCn299delATA 176del166del1635delGHN GJB3A538CTS7-2AG2168AG2168AG.Results 69 out of 505 infants (13.7% r.69505) had mutations in the deafness susceptibility gene. Of the 56 cases with GJB2 gene mutation, 10 cases (14.49%) with SLC26A4 mutation, 3 cases with mitochondrial 12s rRNA gene mutation (4.35% ~ 3.69%), 376 cases of GJB3 gene mutation were not detected, and 37 cases of 74.46th 69 cases of deafness gene mutation were detected by ABR. Conclusion the mutation type of deafness gene in infants is mainly GJB2 gene, followed by SLC26A4 gene, and the screening of deafness gene is an effective supplement to hearing screening. Combined screening is beneficial to early detection and intervention of hearing loss in infants.
【作者单位】：合肥市妇幼保健所;
【基金】：合肥市医学重点专科建设计划资助项目(合卫科教[2016]256号)
【分类号】：R764.43

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