2396例新生儿听力和聋病易感基因联合筛查结果分析

The results analysis for newborns' hearing screening combined with testing deafness predisposing genes

目的探讨新生儿听力与耳聋易感基因联合的必要性。方法应用飞行时间质谱技术,对2396名新生儿在听力筛查的同时,进行GJB2、GJB3、线粒体rRNA、SLC26A4 4个常见耳聋易感基因20个热点突变位点的检测。结果 2396例新生儿中,检出耳聋基因突变113例,阳性率47.16‰,其中致病突变14例,阳性率5.84‰,分别为GJB2 235delC纯合突变1例,GJB3 38C→T杂合突变6例和547 G→A杂合突变4例,线粒体rRNA 1555A→G纯合突变3例;杂合突变99例,阳性率41.32‰。确诊听力损失7例,其中3例耳聋基因检测阳性,分别为GJB2 235delC纯合突变、GJB2 235delC杂合突变和GJB3538C→T杂合突变。结论新生儿听力和耳聋易感基因联合筛查,有助早期发现与遗传相关的迟发性耳聋,预防药物性耳聋,应倡导新生儿听力与聋病易感基因联合筛查。

Objective： To investigate the importance and necessity of newborn hearing screening combined with testing deafness predisposing genes. Method： Detecting the predisposing genes of GJB, GJB, SrRNA, SLCA including the hot spot mutations for newborns by MALDI-TOF. The result of hearing screening combined with testing deafness predisposing genes as experimental group, and the heating screening result as control group. Result： cases were found with deafness gene mutations among the newborns, The positive rate was. %, and cases are pathogenic mutation （is GJB delC homozygous mutation, are GJB C → T heterozygous mutation, are GJB G→ A heterozygous mutation, are S rRNAA→G homozygous mutation） , the ratio was.%; cases were diagnosed with heating loss, the incidence rate was.%o, and of them were GJB delC homozygous mutant, GJB delC heterozygous mutation and GJB C→T heterozygous mutation respectively. Conclusion： The newborn hearing screening combined with testing deafness predisposing genes can improve the detection rate of hearing loss/disease, especially for the genetic related late-onset deafness and drug poisoning deafness that can be found early. So the newborns should carry out universal hearing screening combined with testing deafness predisposing genes.