关键词: 听力障碍, 耳聋基因, 儿童

Abstract: 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.

Key words: hearing impairment, deafness gene, children