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目的探讨新生儿听力与聋病易感基因联合筛查的必要性。方法以2007年11月～2008年10月期间出生的1234例新生儿作为研究对象,对每个研究对象在出生后给予听力筛查和聋病易感基因的同步筛查。进行筛查的3个最为常见聋病基因分别是mtDNA A1555G、GJB2和SLC26A4。结果基因筛查未通过者32例,其中2例为mtDNA A1555G突变阳性,GJB2基因235delC杂合突变20例,SLC26A4基因IVS7-2A>G杂合突变10例。耳聋基因阳性率26‰(32/1234)。32例中5例未通过听力筛查初筛。1234例中112例未通过听力初筛。结论聋病易感基因的同步筛查,弥补了单纯新生儿听力筛查的不足,应该得到广泛的开展。
Objective To explore the necessity of combined screening of susceptibility genes for hearing and deafness in newborns. Methods A total of 1234 newborns born between November 2007 and October 2008 were selected as subjects. Each subject was screened for hearing screening and susceptibility genes for deafness after birth. The three most common deaf diseases to be screened were mtDNA A1555G, GJB2 and SLC26A4, respectively. Results There were 32 cases without genetic screening, of which 2 cases were mtDNA A1555G mutation, 20 cases of GJB2 gene 235delC heterozygous mutation and 10 cases of SLC26A4 gene IVS7-2A> G heterozygous mutation. The positive rate of deafness gene was 26 ‰ (32/1234). Five of the 32 patients did not pass the hearing screening screening. 11234 cases did not pass the hearing screening. Conclusions Simultaneous screening of susceptible genes for deafness can make up for the lack of hearing screening in neonates and should be widely carried out.