摘要
在2007年聋病防控专家提出新生儿听力联合基因筛查模式的基础上,2014年5月~2015年6月哈尔滨市儿童医院共完成听力联合耳聋基因筛查检测443例.基因筛查结果阳性104例.GJB2基因突变为52例,SLC26A4基因突变为50例.MT-RNR1（12SrRNA）基因突变为2例.听力联合耳聋基因筛查意义重大,但普及开展尚有难度.
A total of 443 newborns were taken hearing and genetic screening at Harbin Children Hospital during May 2014 to June 2015. And 104 cases had partial gene mutations,including 52 cases of GJB2 gene mutation,50 cases of SLC26A4 gene mutation and 2 of MT-RNR1（12SrRNA）gene mutation. Newborn Hearing and Genetic Screening is of great significance, however,it is still not available to all newborns.
出处
《中国医学文摘（耳鼻咽喉科学）》
2015年第4期205-207,共3页
Chinese Medical Digest(Otorhinolaryngology)
关键词
新生儿筛查
早期诊断
听力
基因
Neonatal Screening
Early Diagnosis
Hearing
Gene
