中华耳科学杂志Issue(3)：463-466,4.DOI:10.3969/j.issn.1672-2922.2014.03.029
新生儿听力和聋病相关基因联合筛查的临床意义
Clinical Significance of Combined Hearing and Deafness Predisposing Gene Screening in Newborns
摘要
Abstract
Objective To analyze the results of hearing and gene screening in 1027 newborns and investigate the signifi-cance of combined hearing and gene screening. Methods Otoacoustic emissions (OAE) were used for both the first and sec-ond step hearing screening. Newborns failing OAE tests underwent auditory brainstem response (ABR) testing at 3 months af-ter birth. Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) was used to de-tect 20 mutations in 4 deafness predisposing genes (GJB2, GJB3, SLC26A4 and mtDNA 12SrRNA). Results Twenty four new-borns failed the first step hearing screening and 12 failed the second step hearing screening. Fifty two newborns carried muta-tions with a positive detection rate of 5.06%(52/1027). There were 31 GJB2 gene mutations carriers with a positive detection rate of 3.02%(31/1027) and 21 SLC26A4 gene mutations carriers with a positive detection rate of 2.04%(21/1027). Conclu-sions Combined newborn hearing and gene screening provids genetic etiology information and is significant for early diagno-sis of some newborn deafness. Gene screening results can also guide premarital and prenatal genetic counseling and interven-tion for patients and carriers in the future.关键词
新生儿/听力筛查/基因筛查Key words
Newborn/Hearing screening/Genes screening分类
医药卫生引用本文复制引用
王晓燕,潘拥军,蒋新液,张婷,吴志君,侍佳,孟西娜,许飞,卫雅蓉..新生儿听力和聋病相关基因联合筛查的临床意义[J].中华耳科学杂志,2014,(3):463-466,4.基金项目
江苏省妇幼保健科研资助项目 （）
