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为探究新生儿听力联合基因筛查的应用价值,本研究选取1 044例新生儿作为研究对象,均进行听力筛查和耳聋易感基因(GJB2, GJB3, SLC26A4和线粒体12S rRNA基因)筛查,采用耳声发射进行听力初筛,采用OAE与自动判别听性脑干反应结合进行复筛,对复筛未通过者行诊断性听力检查。研究结果显示,筛查的1 044例新生儿中,耳声发射听力初筛,整体的通过率为97.89%;对22例初筛未通过新生儿进行OAE与自动判别听性脑干反应结合复筛,未通过15例;1 044例新生儿中检出易感基因突变携带者59例,携带率为5.65%,其中GJB2、GJB3、SLC26A4和线粒体12S r RNA基因突变携带率分别为3.07%、0.57%、1.25%和0.77%;易感基因筛查正常者听力筛查通过率为99.15%,明显高于易感基因筛查异常者的81.36%,差异比较有统计学意义(p<0.05);15例听力复筛未通过新生儿行听力学诊断,结果显示听力正常5例,听力损失10例。研究结果表明,新生儿听力联合基因筛查具有较高的应用价值,两者具有互补性,可早期发现迟发性、药物型耳聋基因携带高危者并进行听力的及时复查,弥补单纯听力筛查的不足。
Abstract：In order to explore the value of hearing screening in newborns, 1 044 newborns were screened for hearing loss susceptibility genes(GJB2, GJB3, SLC26 A4 and mitochondrial 12 S rRNA genes) by otoacoustic emission. Auditory screening was carried out, OAE and automatic discrimination of auditory brainstem response were used for screening, and diagnostic hearing examination was performed for those who failed the screening. The results showed that the overall pass rate of otoacoustic emission hearing screening was 97.89% in 1 044 neonates;OAE combined with automatic discrimination auditory brainstem response screening was not carried out in 22 neonates who did not pass the screening, but failed in 15 neonates; susceptible gene mutation was detected in 59 of1 044 neonates, the carrying rate was 5.65%. The carrying rates of GJB2, GJB3, SLC26 A4 and mitochondrial 12 S r RNA genes mutations were 3.07%, 0.57%, 1.25% and 0.77%, respectively; the passing rate of hearing screening in normal susceptible gene screening was 99.15%, which was significantly higher than 81.36% in abnormal susceptible gene screening, and the difference was statistically significant(p<0.05). Audiological diagnosis revealed normal hearing in 5 cases and hearing loss in 10 cases. The results showed that the combination of hearing screening and gene screening in newborn infants has high value of application, and the two are complementary. It can early detect late-onset, high-risk drug-induced deafness carriers and conduct timely auditory reexamination to make up for the shortcomings of simple hearing screening.
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基本信息:
DOI：10.13417/j.gab.037.005146
中图分类号:R764
引用信息:
[1]张嫄,宋吉,曹祖威,等.新生儿听力联合基因筛查的应用价值调查[J].基因组学与应用生物学,2018,37(11):5146-5151.DOI:10.13417/j.gab.037.005146.
基金信息:
贵州省少数民族聋病基因库的建立与流行病学分析课题(编号:黔科合基础(2017)1113)资助
2018-11-25
2018-11-25