目的 调查听力障碍儿童基因突变情况,明确耳聋基因筛查可行性。方法 对53名听力障碍儿童进行遗传性聋病问卷调查、听力学评估,耳聋基因检测。以末梢静脉血提取DNA,对GJB2、SLC26A4、GJB3和mtDNA12s rRNA四个耳聋相关基因的20个致聋突变位点进行检测。结果 53例儿童中13例(24.53%,13/53)检测到突变基因,GJB2 基因突变7例,其中235delC 纯合突变1例(1.89%),235delC 杂合突变5例(9.43%),235delC /299_300delAT复合杂合突变1例(1.89%);SLC26A4 基因突变6例(11.32%),其中IVS7-2A>G 纯合突变1 例(1.89%),IVS7-2A>G 杂合突变3例(5.66%),2168A>G杂合突变1例(1.89%),2168A>G 纯合突变1例(1.89%);未检出GJB3 和线粒体12SrRNA基因突变。结论 听力障碍儿童存在较高的遗传性耳聋发生率,主要突变基因为GJB2、SLC26A4; 通过耳聋基因检测,可明确病因,指导聋儿康复、评估耳聋预后有积极效果。

Objective To investigate the gene mutation status in children with hearing impairment,and to identify the feasibility of gene screening for deafness. Methods Questionnaire survey of hereditary hearing loss,audiological evaluation and deafness gene detection were conducted in 53 children with dysaudia.DNA was extracted from peripheral venous blood,and 20 mutation sites of deafness of four deafness related genes such as GJB2,SLC26A4,GJB3 and mtDNA12s rRNA was detected. Results Of the 53 children,13 (24.53%,13/53) were detected with mutan tgene.There were 7 cases of GJB2 gene mutation,including 1 cases (1.89%) of 235delC homozygous mutation,5 cases (9.43%) with 235delC heterozygous mutation,1 cases (1.89%) with /299_300delAT 235delC complex heterozygous mutation.There were 6 cases with SLC26A4 gene mutation (11.32%),of which 1 case with IVS7-2A>G homozygous mutation,3 cases with IVS7-2A>G heterozygous mutation (5.66%),1 case with 2168A>G heterozygous mut- ation (1.89%),and 1 case with 2168A>G pure synthetic mutation (1.89%).GJB3 and mitochondrial 12SrRNA gene mutations were not detected. Conclusions In children with hearing impairment,there is a high incidence of hereditary hearing loss.The main mutation genes are GJB2 and SLC26A4.Detection of genetic deafness can be a clear cause of the disease,to guide the rehabilitation of deaf children,and has a positive effect on assessing the prognosis of deafness.