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中文摘要：
目的进行新生儿听力筛查未通过者的基因诊断，探讨临床应用的价值。方法对110例42天OAE复筛双耳未通过的儿童进行GJB2基因，SLC26A4c．919—2A〉G、H723R，mtDNAl494和1555突变分析。结果发现和耳聋基因突变有关者23例，占检测者的20．9％（23／110），其中纯合或者复合杂合者6例，线粒体突变1例。发现GJB2致病纯合突变和复合杂合突变4例，杂合突变10例，发现出SLC26A4基因纯合突变和复合杂合突变2例，杂合突变6例，发现1555A〉G突变1例。结论新生儿听力筛查未通过者的基因诊断在儿童感音神经性耳聋的早期诊断和干预方面有一定作用。
英文摘要：
Objective The current research aims is to investigate the clinical value of genetic testing in infants who do not pass the neonatal hearing screening and introduce together etiologic and audiological diagnosis of newborns. Methods We performed genetic testing for coding region of GJB2 gene, SLC26A4 c.919-2 and H723R mutation, mtDNA1494 and 1555 mutation in 110 newborns who do not pass the neonatal hearing screening in 42 days. Results 23 （20.9%） infants were detected to carry at least one mutation allele in GJB2, SLC26A4 or mitochondrial DNA. 6 （5.45%） infants were positive for hearing loss caused by GJB2 or SLC26A4 mutations （homozygote or compound heterozygote）. 16（14.5%） infants are heterozy- gous of various genes. 1（0.91%o） infants had the pathological mitochondrial DNA mutation. Conclusions Detection of patho- genic mutations for hearing loss is bringing the possibility to identify children with non-syndromic deafness at an early stage. As a consequence, it will improve the current diagnosis and therapeutical option.
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