重庆医学Issue(33)：4635-4637,3.DOI:10.3969/j.issn.1671-8348.2015.33.010
一个遗传性非综合征型耳聋家系的 GJB2基因突变分析
Mutational analysis of GJB2 gene in a Chinese family with nonsyndromic hearing loss
摘要
Abstract
Objective To analyze the clinical and genetic features of a Chinese family with nonsyndromic hearing loss ,and to find deafness‐causing mutations in the GJB2 gene .Methods After a detailed history and clinical examination ,genomic DNA was ex‐tracted from peripheral blood for the proband and their family members .Two exons of the GJB2 gene was amplified by polymerase chain reaction ,and the PCR products were subjected to automatic DNA sequencing .Finally ,the mutation analysis was performed by SeqMan software of DNASTAR to compare BLAST .Results All patients in this family had late‐onset and progressive hearing loss and ultimately involved all frequencies .Six SNP polymorphisms were found in this pedigree ,which were previously reported world‐wide ,c .79G > A(p .Val27Ile) ,c .341G > A(p .Glu114Gly) ,were also identified in this family .Four single nucleotide polymorphisms (SNPs) were firstly identified in the GJB2 3′‐UTR ,including g .4159T > C ,g .5142G/T ,g .5227G/A ,g .5352T /C .Two SNPs .Con‐clusion Mutation in exons of GJB2 gene was excluded as a pathogenic cause for nonsyndromic hearing loss in this family .关键词
突变分析/遗传性非综合征型耳聋/GJB2基因Key words
mutation/nonsyndromic hearing loss/GJB2 gene分类
医药卫生引用本文复制引用
王义旺,胡祥上,全庆丽,姜海鸥..一个遗传性非综合征型耳聋家系的 GJB2基因突变分析[J].重庆医学,2015,(33):4635-4637,3.基金项目
2012年怀化市科技计划项目（2012-13-1）。 （）
