耳聋基因筛查在新生儿耳聋早期筛查中的应用价值研究  

Study on the application value of deafness gene screening in early screening of neonatal deafness

作　　者：石卫武[1] 周美英[1] 王青[1] 陈雪娇[1] 吴梦雪 SHI Wei-wu;ZHOU Mei-ying;WANG Qing;CHEN Xue-jiao;WU Meng-xue(Central Laboratory,Taizhou Hospital,Taizhou,Zhejiang 317000,China)

机构地区：[1]浙江省台州医院中心实验室,浙江台州317000

出　　处：《中国卫生检验杂志》2021年第22期2702-2704,共3页Chinese Journal of Health Laboratory Technology

摘　　要：目的探讨耳聋基因筛查在新生儿耳聋早期筛查中的应用价值。方法选择2017年1月—2020年6月本院7220例新生儿为研究对象,所有新生儿均在出生48 h、出生72 h时行听力初筛以及遗传性耳聋基因筛查,回顾性分析各项筛查结果。结果7220例新生儿中,检出耳聋基因突变304例,耳聋基因突变检出率为4.21%。经听力筛查,初筛通过者6930例,初筛通过率为95.98%。304例耳聋基因突变的新生儿中,GJB2耳聋基因突变157例(2.17%),SLC26A4耳聋基因突变97例(1.34%),GJB3基因突变27例(0.37%),线粒体DNA耳聋基因突变23例(0.32%),其中以GJB2235del以及SLC26A4 IVS7-2A>G位点突变率最高,分别为1.80%、1.16%。最终诊断耳聋者有5例,且均为GJB2235del杂合突变的新生儿。结论耳聋基因突变位点主要为GJB2235del C与SLC26A4 IVS7-2A>G,通过遗传性耳聋基因筛查可及时发现潜在及迟发性的耳聋,从而尽早进行干预,遗传性耳聋基因筛查在新生儿耳聋早期筛查中是一种补充性筛查方式,具有重要应用价值。Objective To investigate the application value of deafness gene screening in early screening of neonatal deafness.Methods During the period from January 2017 to June 2020,7220 neonates in our hospital were included in the study.All newborns were screened for 48 hours at birth,72 hours after birth,and hereditary deafness genetic screening.Retrospective analysis was performed on the results of each screening.Results Among 7220 newborns,304 cases of deafness gene mutation were detected,and the detection rate of deafness gene mutation was 4.21%.After hearing screening,6930 cases were screened.The initial screening pass rate was 95.98%.In 304 neonates with deafness gene mutation,GJB2 deafness gene mutation was observed in 157 cases(2.17%),SLC26A4 deafness gene mutation was observed in 97 cases(1.34%),GJB3 gene mutation was observed in 27 cases(0.37%),mitochondrial DNA deafness gene was observed in 23 cases(0.32%).Among them,the mutation rate of GJB2235del and SLC26A4 IVS7-2A>G site were the highest,respectively 1.80%and 1.16%.Five cases of deafness were diagnosed,all of which were neonates with GJB2235del heterozygous mutation.Conclusion The deafness gene mutation sites are mainly GJB2235del C and SLC26A4 IVS7-2A>G.Genetic screening of deafness can detect latent and delayed deafness in time,so as to intervene as early as possible.Genetic screening of deafness is an important supplementary screening method in the early screening of newborn deafness,which has important application value.

关 键 词：耳聋基因 筛查 新生儿 应用价值 

分 类 号：R764[医药卫生—耳鼻咽喉科]