1674例新生儿耳聋基因筛查结果分析

Screening analysis of deafness gene in neonatus

目的分析新生儿耳聋易感基因分子流行病学特征。方法对1 674例新生儿进行听力及耳聋易感基因筛查,分析其流行病学特征。结果 1 674例新生儿中,检出耳聋易感基因异常37例,其中176del 16突变2例,299del AT杂合突变5例,235del C突变16例,IVS7-2A>G杂合突变9例,2168A>G突变1例,538C>T杂合突变2例,1494C>T突变2例,阳性率为2.21%。结论听力筛查联合耳聋易感基因筛查能够从分子水平发现有可能存在听力损伤的新生儿,为早期发现、预测耳聋的发生及制定干预措施提供了有利的参考。

Objective To analyze the molecular epidemiology characteristic of neonatal deafness susceptibility genes. Methods Hearing screening and deafness susceptibility genes screening were performed in 1 674 cases of newborn to analyze the epidemiolog ical characteristics. Results Among 1 674 cases of neonatus,37 cases were with deafness susceptibility gene abnormalities,inclu- ding 2 cases of 176 del 16 mutations,5 cases of 299 del AT heterozygous mutation,16 cases of 235 del C mutation,9 cases of IVS7- 2A〉G heterozygous mutations,1 case of 2168A〉G mutation, 2 cases of 538C〉T heterozygous mutation,2 cases of 1494C〉T mutation,and the positive rate was 2. 21%. Conclusion Hearing screening combined with deafness susceptibility gene screening could detect possible hearing loss children from molecular level, providing favorable reference for the early detection, predict and in terventions.