5545例新生儿耳聋基因检测结果分析

Analysis on detection results of deafness genes among 5545 neonates

目的探讨耳聋易感基因突变位点在新生儿人群中的携带率和致病性,以减少听力障碍患儿的出现。方法选取2014年5月-2015年6月在该院出生及门诊筛查的新生儿5 545例,采集足跟血送深圳华大基因检测中心,利用飞行时间质谱技术对常见耳聋易感基因进行检测。结果 5 545例新生儿中,检出阳性158例,携带率为2.85%。GJB2基因突变发生率最高,携带率为1.55%。结论耳聋易感基因筛查可以早期发现、预测耳聋的发生。制定相应的干预措施可降低耳聋发生率,应大规模开展新生儿耳聋易感基因筛查。

Objective To explore the carrying rate and pathogenicity of deafness predisposing genes mutation loci among neonates to reduce the occurrence of neonates with hearing disorder. Methods A total of 5 545 neonates born in the hospital and receiving screening in Outpatient of the hospital from May 2014 to June 2015 were selected, heeling blood specimens were obtained for detection in Shenzhen Huada Gene Detection Center, time of flight-mass spectrometry （TOF-MS） was used to detect common deafness predisposing genes. Results Among 5 545 neonates, 158 neonates were positive, the carrying rate was 2. 85%. The carrying rate of GJB2 gene mutation was the highest, which was 1.55%. Conclusion Deafness predisposing genes can find and predict the occurrence of deafness early, making corre- sponding intervention measures can reduce the incidence rate of deafness, large-scale neonatal deafness predisposing genes screening should be carried out.