新生儿听力与耳聋易感基因联合筛查结果

发布时间：2018-01-21 14:26

本文关键词： 新生儿听力筛查耳聋易感基因耳聋家族史　出处：《预防医学》2016年07期 　论文类型：期刊论文

【摘要】：目的分析新生儿听力与耳聋易感基因联合筛查结果,为在新生儿中大规模开展联合筛查提供数据。方法选取2014年—2015年6月在湖州市妇幼保健院出生的2 046名新生儿进行听力初筛,耳聋家族史调查和GJB2、GJB3、SLC26A4和线粒体12srRNA 4个常见耳聋易感基因检测,并对结果进行统计学分析。结果 682名听力初筛未通过新生儿中,检出耳聋基因突变50例,阳性率7.33%;1 364名听力初筛通过新生儿中,检出耳聋基因突变62例,阳性率4.55%。听力初筛未通过新生儿耳聋基因突变阳性率、致病突变率均高于听力初筛通过新生儿(P0.01)。152名有耳聋家族史的新生儿中,检出耳聋基因突变23例,阳性率1.12%;1 894名无耳聋家族史的新生儿中,检出耳聋基因突变89例,阳性率4.70%。有耳聋家族史新生儿耳聋基因突变阳性率、致病突变率均高于无耳聋家族史新生儿(P0.01)。2 046名新生儿中,检出带致病耳聋基因15例,阳性率为0.73%;杂合携带耳聋基因97例,阳性率为4.74%。682名听力初筛未通过的新生儿,经听力复筛、听力学评估最终确诊听力损失16例,其中10例为耳聋基因阳性。结论听力初筛未通过并伴有耳聋家族史的新生儿可作为耳聋易感基因筛查的重点对象,建议有条件的地区开展新生儿听力和耳聋易感基因联合筛查,有助于遗传性耳聋的早期发现、早期诊断和早期干预。
[Abstract]:Objective to analyze the results of combined screening of hearing and deafness susceptibility genes in neonates. Methods from 2014 to June 2015, 20 46 newborns born in Huzhou Maternal and Child Health Hospital were selected for hearing screening. Family history of deafness and detection of four common hearing loss susceptibility genes: GJB _ 2, GJB _ 3, SLC26A4 and mitochondrial 12srRNA. Results 50 cases of deafness gene mutation were detected in 682 newborns without primary screening of hearing, and the positive rate was 7.33%. Among 1 364 newborns, 62 cases were found to have mutation of deafness gene, the positive rate was 4.55%, and the positive rate of gene mutation was 4.55%. The mutation rate of deafness gene was higher than that of the newborns with family history of deafness. The positive rate was 1.12. Among 1 894 newborns with no family history of deafness, 89 cases were found to have mutation of deafness gene, the positive rate was 4.70. The mutation rate of deafness gene was positive in neonates with family history of deafness. The pathogenicity mutation rate was higher than that in the neonates with no family history of deafness (P 0.01or 2.046). 15 cases with deafness gene were detected, and the positive rate was 0.73%. The positive rate of heterozygosity was 4.74.682 newborns who had not passed the primary screening of hearing. 16 cases of hearing loss were confirmed by audiological evaluation. Among them, 10 cases were positive for deafness gene. Conclusion the newborns with hearing failure and family history of deafness can be used as the key screening objects of deafness susceptibility gene screening. It is suggested that the combined screening of neonatal hearing and deafness susceptibility genes may be helpful to the early detection, early diagnosis and early intervention of hereditary deafness.
【作者单位】：湖州市妇幼保健院产前诊断中心;
【分类号】：R764.43
【正文快照】： 先天性耳聋是最常见的出生缺陷之一,发生率约1‰~3‰[1],67.7%的先天性耳聋为遗传缺陷所致[2-3]。常规的新生儿听力筛查应用诱发性耳声发射或自动听性脑干反应方法,容易遗漏一些症状较轻的听力损失者和迟发性、渐进性及药物敏感性耳聋患者。听力障碍发现的早晚对患儿言语能力

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