CAJ | 학술논문

目的：分析常见耳聋基因突变在极重度感音性耳聋患者中的突变类型及几率。方法选取51例接受人工耳蜗植入的极重度感音性耳聋患者，语前聋39例，语后聋12例，采取外周血，应用基因诊断方法进行GJB2、SLC26A4和12srRNA 1555G、C1494T位点突变检测。结果51例极重度感音性耳聋患儿中检测到13例致聋基因突变，突变率25．49％。GJB2基因突变7例，突变率13．73％（7/51），其中1例同时合并SLC26A4基因突变；SLC26A4基因突5例变，突变率9．80％（5/51）；12srRNA 1555G 和12srRNA C1494T基因突变各1例，突变率1．96％（1/51）。结论极重度感音性耳聋最常见的基因突变是GJB2与SLC26A4基因突变；极重度感音性耳聋患者常见聋病易感基因突变阳性检出率较高，可常规进行耳聋基因检测。
목적：분석상견이롱기인돌변재겁중도감음성이롱환자중적돌변류형급궤솔。방법선취51례접수인공이와식입적겁중도감음성이롱환자，어전롱39례，어후롱12례，채취외주혈，응용기인진단방법진행GJB2、SLC26A4화12srRNA 1555G、C1494T위점돌변검측。결과51례겁중도감음성이롱환인중검측도13례치롱기인돌변，돌변솔25．49％。GJB2기인돌변7례，돌변솔13．73％（7/51），기중1례동시합병SLC26A4기인돌변；SLC26A4기인돌5례변，돌변솔9．80％（5/51）；12srRNA 1555G 화12srRNA C1494T기인돌변각1례，돌변솔1．96％（1/51）。결론겁중도감음성이롱최상견적기인돌변시GJB2여SLC26A4기인돌변；겁중도감음성이롱환자상견롱병역감기인돌변양성검출솔교고，가상규진행이롱기인검측。
Objective To investigate the prevalence of common genetic mutations in children with profound sensory deafness.Meth-ods Genomic DNA was extracted from the peripheral blood samples obtained from 5 1 patients who had received cochlear implants,among whom there were 39 with prelingual hearing loss and 12 with postlingual hearing loss,and all suffered profound sensory deafness.Mutations of four common deafness-associated genes,GJB2,SLC26A4,12srRNA 1555G and C1494T,were screened.Results Genetic mutations had been identified in 13(25.49%)of the 51 children.GJB2 mutations were detected in 7 of the 51 patients(13.73%).Five cases(9.80%)had SLC26A4 mutation.One case(1.96%)had 12srRNA 1555G mutation.One case(1.96%)had 12srRNA C1494T mutation.Conclusion SLC26A4 gene and GJB2 gene are the most common types of genetic mutation in children with profound sensory deafness.A significant preva-lence of genetic mutations is identified in children with cochlear implants,suggesting the need for routine genetic assessments.