中华耳科学杂志2018，Vol.16Issue(2)：160-164,5.DOI:10.3969/j.issn.1672-2922.2018.02.007
135例大前庭导水管耳聋患者SLC26A4基因突变分析
SLC26A4 Mutations in 135 Cases of Hearing Loss Associated with Enlarged Vestibular Aqueduct
摘要
Abstract
Objective To investigate the mutation spectrum of SLC26A4 and to elucidate molecular mechanisms un-derlying non-syndromic hearing loss associated with enlarged vestibular aqueduct in east China by screening for SLC26A4 gene mutations.Methods Blood samples and clinical data were collected from 135 unrelated EVA probands and screening of coding regions of the SLC26A4 gene was performed by nested polymerase chain reaction followed by Sanger sequencing.Results One hundred(74.07%)probands carried two SLC26A4 mutant alleles and ten(7.41%)had one SLC26A4 mutant allele, while no mutation was detected in the rest twenty-five (18.52%) patients.A total of 51 types of SLC26A4 mutations were identified with c.919-2A>G and p.H723R being the most common mutations account-ing for 50%(105/210)and 10.48%(22/210)of mutant alleles,respectively.Conclusions Consistent with previous re-ports,c.919-2A>G is most prevalent in Chinese.Further research will be needed to investigate other genetic factors that may contribute to the pathogenesis of EVA given the fact that a large percentage of patients lack mutations in the SLC26A4 coding region in one or both alleles.关键词
大前庭导水管/SLC26A4/耳聋/基因诊断Key words
Enlargement of Vestibular Aqueduct/SLC26A4/Hearing Impairment/Genetic Diagnosis分类
医药卫生引用本文复制引用
于晓宇,林妘,许军,杨涛,吴皓..135例大前庭导水管耳聋患者SLC26A4基因突变分析[J].中华耳科学杂志,2018,16(2):160-164,5.基金项目
本研究受到国家重点研发计划(2017YFC1001800)资助 This work was supported by the National key research and development program(2017YFC1001800). （2017YFC1001800）
