摘要
【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] To identify the genetic causes for hearing loss in children and present a genetic counseling. [Methods] Thirty-one children were performed audiological examination before genetic testing. Blood samples were obtained and DNA was extracted from the leukocytes. The coding region of GJB2 gene,SLC26A4 and mitochondrial DNA tar get fragments were amplified by polymerase chain reaction（PCR）. Mutations in GJB2 gene,SLC26A4IVST-2A〉G,mtDNA 1494C〉T and mtDNA1555A〉G were identified by sequencing analysis. [Results] The carrier frequency of mutations associated with hearing loss in children was 32 % （10/31）. of 31 patients,7 had GJB2 mutations,2 had SLC26A4IVST-2A〉 G mutation and 1 had mtDNA1555A〉G mutation. [Conclusions] Detection of pathogenic mutations for hearing loss is bringing the possibility to identify children with non-syndromic deafness at an early stage. As a consequence, it will improve the current diagnosis and therapeutical option.
出处
《中国儿童保健杂志》
CAS
2009年第6期661-663,共3页
Chinese Journal of Child Health Care
基金
南京医科大学科技发展基金面上项目(08NMUM044)
关键词
听力损失
基因诊断
突变
儿童
hearing loss
genetic testing
mutation
children
