中国耳鼻咽喉头颈外科2016，Vol.23Issue(5)：269-271,3.DOI:10.16066/j.1672-7002.2016.05.007
湖州市新生儿听力和耳聋基因联合筛查结果分析
Analysis on effects of the neonatal hearing screening combined with deafness genes screening in Huzhou
摘要
Abstract
OBJECTIVETo explore the clinical value of the neonatal hearing combined with deafness gene screening.METHODSFrom February 2014 to August 2015, 1933 newborns were included in the study. We analyzed the effects of combined screening of hearing and deafness gene.RESULTSAmong all the 1933 neonates, 71.34% (1379/1933) passed and 28.66% (554/1933) failed the initial hearing screening.The hearing impairment rate was 4.14‰ (8/1933). Genetic screening mutation rate was counted. GJB2 mutation rate was 28.97‰ (56/1933). SLC26A4 mutation rate was 13.97‰ (27/1933). GJB3 mutation rate was 6.21‰ (12/1933). Mitochondrial 12 S rRNA gene mutation rate was 1.03‰ (2/1933). 1 case of 235 delc homozygous mutation did not pass the initial hearing screening and lost to follow-up rescreening. 2 cases of 12 S rRNA 1555A>G homogeneous mutations passed early hearing screening. 8 cases of auditory handicaps were all normal.CONCLUSIONDeafness gene screening can make up for the deficiencies of the universal newborn hearing screening. Joint use of both of them should complement each other and play the biggest role.关键词
新生儿筛查/聋/基因/突变筛查Key words
Neonatal Screening/Deafness/Genes/Mutation Screening引用本文复制引用
忻蓉,顾春健,娄志武,沈学萍,蒋琦..湖州市新生儿听力和耳聋基因联合筛查结果分析[J].中国耳鼻咽喉头颈外科,2016,23(5):269-271,3.基金项目
浙江省湖州市科技局公益性技术应用研究一般项目 （）
