Abstract: Objective To explore necessity and feasibility for deafness gene SLC26A4 screening and provide experimental and theoretical basis for prenatal diagnosis. Methods 1 000 newborns were subjected to both newborn hearing screening using a transient evoked otoacoustic emission screening,and SLC26A4 gene mutations screening using the MassARRAY molecular weight array analysis system.The sanger sequencing method were used to verify the positive mutation sample. Results Of the 1 000 newborns,11 (1.1%)had OAE screening failure.A total of 10(1.0%) babies were found to have 1 mutated allele on the newborn genetic screening for deafness,9 (0.9%) of whom were heterozygous for IVS7-2A>G,1 (0.1%) heterozygous for c.1226G>A.All of them passed the hearing screening. Conclusions The newborn genetic screening for SLC26A4 may detected subjects with deafness-associated mutation,it might compensate for the inherent limitations of conventional newborn hearing screening,thus identifying the babies who may potentially have hearing loss.

Key words: hearing screening, genetic screening, SLC26A4 gene, newborn

摘要： 目的 探讨在新生儿听力筛查的同时,进行耳聋基因SLC26A4基因筛查的必要性和可行性,为耳聋基因的筛查和产前诊断提供实验和理论依据。 方法 收集本地新生儿1 000例为研究对象,进行常规听力筛查,同时采集脐带血。应用MassARRAY分子量阵列分析系统对SLC26A4基因突变位点进行筛查。用Sanger测序法验证阳性样本。 结果 在1 000例新生儿中,通过听力初筛和复筛共有11例(1.1%)未通过。基因筛查共有10例(1.0%)携带杂合突变,9例(0.9%)携带 SLC26A4 基因IVS7-2A＞G杂合突变,1例(0.1%)携带c.1226G>A杂合突变,此10例新生儿均通过听力筛查。 结论 在新生儿中进行SLC26A4 基因基因筛查,可在早期发现耳聋基因易感位点携带者,弥补听力筛查的不足,发现可能潜在的耳聋患者。

关键词: 听力筛查, 基因筛查, SLC26A4基因, 新生儿