Abstract: Objective To investigat the clinic significance of universal newborn hearing screening combined with testing deafness predisposing genes. Method The spredisposing genes of GJB2,GJB3,12S rRNA,SLC26A4 including the 20 hot spot mutations for 622 newborns who did not pass the first hearing screening were detected by MALDI-TOF. Result Among the 622 subjects,48 cases were found with deafness gene mutations.The positive rate was 7.72%.32 cases of the positive ones were with GJB2 mutations,11 cases were with SLC26A4 mutations and 5 cases were with GJB3 mutations.The relevence ratios were 66.67%,22.91% and 10.42% respectively.The rate of GJB2 mutation was obviously higher than SLC26A4 and GJB3 mutation (χ²=25.767,P<0.01).And no 12S rRNA (1494C>T and 1555A>G) mutations were found.7 cases were diagnosed with hearing loss and 3 of them were GJB2 235delC homozygous mutation,GJB2 235delC heterozygous mutation and GJB3 538C→T heterozygous mutation respectively. Conclusions The newborns who did not pass the first hearing screening have high positive rate of deafness genes,they can be the target population for testing the deafness predisposing genes.The strategy combined deafness predisposing genes testing with the routine hearing screening can be helpful to find out the causes of hearing loss early,also can make the diagnosis and intervention earlier.

Key words: hearing screening, deafness gene, mutation, hearing loss

摘要： 目的 对听力初筛未通过的新生儿进行聋病易感基因筛查，探讨新生儿听力联合基因筛查的意义。方法 应用飞行时间质谱技术，对622例听力初筛未通过新生儿进行GJB2、GJB3、线粒体12SrRNA 、SLC26A4 4种常见耳聋易感基因的检测，检测位点包含了以上基因的20 个热点突变位点。结果 622例听力初筛未通过新生儿中，检出耳聋基因突变48例，阳性率7.72%。其中GJB2突变 32例，占总检出率的66.67%，SLC26A4突变11例，占22.91%，GJB3 突变5例，占10.42%，GJB2基因突变检出率明显高于SLC26A4突变和GJB3 突变(χ²=25.767，P<0.01)，未检测到线粒体 DNA 基因1494C>T 和 1555A>G 突变。确诊听力损失7例，其中3例耳聋基因检测阳性，分别为GJB2 235delC纯合突变、GJB2 235delC杂合突变和GJB3 538C→T杂合突变。结论 听力初筛未通过新生儿聋病基因阳性率较高，可作为目标人群进行耳聋易感基因筛查，新生儿听力联合耳聋易感基因筛查，有助早期发现听力损失病因，早期确诊并干预。

关键词: 听力筛查, 耳聋基因, 突变, 听力损失