听力初筛未通过新生儿常见聋病易感基因检测结果分析

发布时间：2018-04-27 23:22

本文选题：听力筛查 + 耳聋基因　；参考：《中国儿童保健杂志》2014年10期

【摘要】：目的对听力初筛未通过的新生儿进行聋病易感基因筛查,探讨新生儿听力联合基因筛查的意义。方法应用飞行时间质谱技术,对622例听力初筛未通过新生儿进行GJB2、GJB3、线粒体12SrRNA、SLC26A4 4种常见耳聋易感基因的检测,检测位点包含了以上基因的20个热点突变位点。结果 622例听力初筛未通过新生儿中,检出耳聋基因突变48例,阳性率7.72%。其中GJB2突变32例,占总检出率的66.67%,SLC26A4突变11例,占22.91%,GJB3突变5例,占10.42%,GJB2基因突变检出率明显高于SLC26A4突变和GJB3突变(χ2=25.767,P0.01),未检测到线粒体DNA基因1494CT和1555AG突变。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GJB3 538C→T杂合突变。结论听力初筛未通过新生儿聋病基因阳性率较高,可作为目标人群进行耳聋易感基因筛查,新生儿听力联合耳聋易感基因筛查,有助早期发现听力损失病因,早期确诊并干预。
[Abstract]:Objective to screen the predisposing genes for hearing loss in newborns without primary screening of hearing, and to explore the significance of combined screening of hearing and hearing in newborns. Methods using time-of-flight mass spectrometry (TMS), four common deafness susceptibility genes (GJB2GJB3, mitochondrial 12SrRNA-SLC26A4) were detected in 622 unscreened newborns. The detected sites included 20 hot spot mutation sites of the above genes. Results among 622 newborns without hearing screening, 48 cases were found to have deafness gene mutation, the positive rate was 7.72%. There were 32 cases of GJB2 mutation, 11 cases of SLC26A4 mutation, and 5 cases of GJB3 mutation, accounting for 22.91%. The detection rate of GJB2 gene mutation was significantly higher than that of SLC26A4 mutation and GJB3 mutation (蠂 2 + 25.767 GJB2 gene mutation, P 0.01). No mitochondrial DNA gene 1494CT and 1555AG mutations were detected. 7 cases of hearing loss were diagnosed, 3 of them were positive for GJB2 235delC homozygous mutation, GJB2 235delC heterozygous mutation and GJB3 538C T heterozygous mutation. Conclusion the positive rate of genes of hearing loss is high in primary screening of hearing, which can be used as target population to screen for susceptible genes of hearing loss. Screening of genes of hearing loss combined with hearing loss in newborns can help to find the cause of hearing loss, early diagnosis and intervention.
【作者单位】：绍兴市妇幼保健院;杭州华大基因研究中心;
【基金】：浙江省公益性技术应用研究计划项目(2013C33213)
【分类号】：R764.43

【参考文献】