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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 investigate the carrier rate and pathogenicity of susceptibility gene of deafness in newborns, in order to reduce the occurrence of hearing-impaired children. Methods From May 2014 to June 2015, 5 545 newborn infants born in the hospital and outpatient screening were collected. The heel blood was collected and sent to Shenzhen Huada Gene Testing Center. The common deafness susceptibility genes were analyzed by using time of flight mass spectrometry Detection. Results Among 5 545 newborns, 158 were positive, with a carriage rate of 2.85%. The highest incidence of GJB2 gene mutation, carrying rate of 1.55%. Conclusion Deafness susceptibility gene screening can be detected early to predict the occurrence of deafness. The development of appropriate interventions can reduce the incidence of deafness, should carry out large-scale screening of neonatal deafness susceptibility genes.