摘要
目的分析东莞市新生儿常见聋病易感基因突变位点分布并探讨听力筛查与基因检测联合筛查的意义。方法采用导流杂交技术检测新生儿聋病易感基因,并随访基因筛查异常者。听力筛查采用瞬态声诱发耳声发射与听性脑干反应。结果4558例新生儿中检出聋病基因突变161例,携带率为3.53%,其中13例未通过听力筛查,主要突变基因为GJB2和SLC26A4,分别为80例和59例,GJB2/SLC26A4双杂合突变1例。听力筛查结果未通过有419例,未通过率为9.19%,其中13例聋病易感基因筛查异常。156例耳聋易感基因筛查阳性新生儿接受随访,其中1例GJB2/SLC26A4双重杂合新生儿3次听力筛查均未通过。结论新生儿听力筛查与聋病易感基因联合筛查有助于早期发现早期预防听力障碍及迟发性聋病的高危儿。
Objective To evaluate the clinic significace of combining hearing screening with deafness susceptibility genes screening,and to investigate the distribution of deafness susceptibility genes in the newborns of Dongguan,Guangdong.Methods The sputum susceptibility gene was detected by flow-through hybridization technique and patients with abnormal genetic screening were followed up.Hearing screening was performed using transient acoustic evoked otoacoustic emissions and auditory brainstem response.Results A total of 161 cases of deafness gene were detected in 4558 newborns,and the carrying rate was 3.53%.Thirteen of them did not pass the hearing screening.Two main mutations were GJB2 and SLC26 A4,which were found in 80 cases and 59 cases,respectively.GJB2/SLC26 A4 was the only found with double heterozygous mutations.Hearing screening failure was found in 419 cases,and the rate of non-passing was 9.19%.Among them,13 cases of deafness gene were susceptible to screening.A total of 156 cases of neonatal susceptibility gene screening were followed up.The double heterozygous newborns with GJB2/SLC26 A4 failed to pass hearing screenings three times in the follow up study.Conclusion The combination of conventional hearing screening with susceptible genes detection is benefit for early discovery and diagnosis of the late-onset deafness.
作者
雷亚利
潘沛锦
郑焱
陈庆利
隋洪
LEI Ya-li;PAN Pei-jin;ZHENG Yan;CHEN Qing-li;SUI Hong(Department of Clinical Laboratory,Dong-guan KangHua Hospital,Dongguan 5230001 Guangdong,China;不详)
出处
《广东医学》
CAS
2020年第18期1886-1890,共5页
Guangdong Medical Journal
基金
东莞市社会科技发展(一般)项目(201950715059136)。
关键词
新生儿
听力
耳聋
易感基因
筛查
newborn
hearing
deafness
susceptibility genes
screening
