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【目的】进行儿童听力障碍的遗传学检测,发现耳聋的原因并进行遗传咨询。【方法】对31例中度以上耳聋患儿进行临床听力测试,收集外周静脉血样本,从白细胞中提取DNA,聚合酶链反应扩增GJB2基因、SLC26A4基因和线粒体DNA目的片段,对扩增片段直接测序进行GJB2基因、SLC26A4IVS7-2位点、mtDNA1494和1555突变分析。【结果】共31人次接受耳聋遗传学检测,发现和耳聋基因突变有关者10例(32%)。发现GJB2致病纯合突变或复合杂合突变4例,杂合突变3例,鉴别出IVS7-2A>G纯合突变和杂合突变各1例,发现1555A>G突变1例。【结论】耳聋遗传学检测在儿童感音神经性耳聋的早期诊断和干预方面有一定作用。
【Objective】 Genetic testing for hearing impairment in children was carried out to find out the causes of deafness and carry out genetic counseling. 【Methods】 Clinical hearing tests were performed in 31 children with moderate or severe deafness. Peripheral venous blood samples were collected and DNA was extracted from white blood cells. GJB2 gene, SLC26A4 gene and mitochondrial DNA fragments were amplified by polymerase chain reaction. Direct sequencing was performed for GJB2 gene, SLC26A4IVS7-2 locus, mtDNA1494 and 1555 mutations. 【Results】 A total of 31 persons received genetic testing for deafness and found 10 cases (32%) related to deafness gene mutation. Found GJB2 pathogenic homozygous mutation or compound heterozygous mutation in 4 cases, heterozygous mutation in 3 cases, identified IVS7-2A> G homozygous mutation and heterozygous mutation in 1 case, found 1555A> G mutation in 1 case. 【Conclusion】 Genetic testing of deafness has a role in the early diagnosis and intervention of sensorineural hearing loss in children.