关键词: 听力筛查, 基因筛查, SLC26A4基因, 新生儿

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