中华耳科学杂志2018，Vol.16Issue(2)：176-180,5.DOI:10.3969/j.issn.1672-2922.2018.02.010
东莞户籍33810例新生儿听力筛查联合耳聋基因检测与分析
Combined Hearing and Genetic Screening in 33,810 Newborns in Dongguan
摘要
Abstract
Objective To determine the carrier rate and mutation types of deafness-related genes in local new-borns,and evaluate the significance of combined hearing and genetic screening.Methods A total of 33,810 local new-borns were screened with otoacoustic emissions, automated auditory brainstem responses and genetic testing for nine mutations of four genes,including GJB2(c.235delC,c.299_300delAT,c.176_191del16,c.35delG),SLC26A4(IVS7-2A>G,c.2168A>G),mtDNA12SrRNA(m.1555A>G,m.1494C>T)and GJB3(c.538C>T). Results Among the 33,810 new-borns,1,145 mutations were identified(carrier rate=3.39%),including 661 GJB2 mutations(1.96%),364 SLC26A4 mutations(1.08%),74 mtDNA 12SrRNA mutations(0.22%)and 46 GJB3 mutations(0.14%).A total of 6,242 newborns received combined hearing and genetic screening,among them 103(1.65%)failed hearing screening.Conclusion The most common mutations were c.235delC and IVS7-2A>G in Dongguan.Combined hearing and genetic screening can help improve understanding of the carrier rate,mutation types and phenotypes of deafness genes as well as its impact on newborn hearing in the Dongguan population,which are critical in early identification of deafness and prevention of oto-toxicity and acquired deafness.Early identification,diagnosis and intervention are important to reduce deafness burden.关键词
新生儿/听力筛查/耳聋基因/突变携带率/基因芯片Key words
Newborn/Hearing Screening/Deafness-related Gene/Mutation Carrier Rate/Gene Array分类
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巫静帆,李小霞,谭淑娟,付有晴,杨茜,朱鹏远,马秋林,周光纪,刘彦慧..东莞户籍33810例新生儿听力筛查联合耳聋基因检测与分析[J].中华耳科学杂志,2018,16(2):176-180,5.基金项目
东莞市社会发展项目(编号:2014108101015 （）
20161081101023) Dongguan Social Development Project(2014108101015 （）
20161081101023) （）
