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1000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。
[Objective] To explore necessity and feasibility for deafness gene SLC26A4 screening and provide experi- mental and theoretical basis for prenatal diagnosis. [Methods] I 000 newborns were subjected to both newborn hearing screening using a transient evoked otoacoustie 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 ] 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 deafnes-associated mutation,it might compensate for the inherent limitations of conventional newborn hearing screening, thus identifying the babies who may potentially have hearing loss.
出处
《中国儿童保健杂志》
CAS
北大核心
2013年第2期122-124,共3页
Chinese Journal of Child Health Care
基金
邯郸市科学技术研究与发展计划(1113108017)
