小儿非综合征型耳聋59例基因突变筛查分析  

Screening and analysis of hot-spot deafness gene mutations among children with non-syndromic hearing loss in 59 cases

作　　者：孙莉莉[1] 张莉[1] 张东红[1] 

机构地区：[1]沈阳市妇女儿童保健中心,辽宁沈阳100032

出　　处：《中国实用儿科杂志》2014年第2期133-136,共4页Chinese Journal of Practical Pediatrics

基　　金：2011年沈阳市卫生局科研课题

摘　　要：目的筛查小儿非综合征型耳聋基因热点突变,初步了解耳聋基因热点突变谱系及发生频率。方法收集2010年1月至2012年12月沈阳市妇女儿童保健中心收治的非综合征型耳聋患儿59例,经知情同意后,抽取外周静脉全血并提取基因组DNA,应用耳聋微阵列芯片检测中国人群中常见4个耳聋基因的9个突变位点,具体包括GJB2基因(235 del C、176 del 16、299 del AT和35 del G)、SLC26A4基因(IVS 7-2 A>G、2168 A>G)、线粒体mtDNA 12S rRNA基因(1494 C>T、1555 A>G)、GJB3基因(538 C>T),分析检测结果。结果59例非综合征型耳聋患儿GJB2基因、SLC26A4基因、mtDNA 12S rRNA 1555 A>G基因突变检出率分别为25.4%、15.3%、0。具体包括:GJB2基因235 del C纯合突变型2例;GJB2基因235 del C/299 del AT复合杂合突变型3例;GJB2基因235delC/176 del 16复合杂合突变型1例;GJB2基因235 del C杂合突变型7例;GJB2基因299 del AT纯合突变型1例;SLC26A4基因IVS 7-2 A>G纯合突变型5例;SLC26A4基因IVS 7-2 A>G杂合突变型3例;GJB2基因235 del C/299 del AT,SLC26A4基因2168 A>G复合杂合突变型1例。59例中无mtDNA 12S rRNA基因1555 A>G均质型突变和GJB3突变。GJB2基因突变中,极重度组和重度组检出率较高(43.8%和41.7%),其次是中度组10.5%、轻度组8.3%,差异有统计学意义(P<0.05)。SLC26A4基因突变中,重度组检出率较高,为41.7%,其次为中度组10.5%、轻度组8.3%和极重度组6.3%,差异有统计学意义(P<0.05)。结论本次研究耳聋患儿热点突变基因以GJB2基因和SLC26A4基因为主,在双耳重度、极重度耳聋患儿的阳性检出率较高。应重视对儿童人群常规耳聋基因的筛查诊断。Objective To investigate the spectrum and incidence of the hot-spot deafness gene mutations in non-syn- dromie hearing loss children, Methods Peripheral blood samples were obtained from 59 children with severe to profound non-syndromic deafness in Shenyang. The hot-spot deafness gene mutations,including GJB2, GJB3, SLC26A4, mitochondrial DNA 12S rRNA genes, were detected using a nine deafness gene mutations detection kit （Microarray）. Results Mutation positive rate of GJB2,SLC26A4 and mtDNA A1555G of 59 subjects were 25.4%, 15.3% and 0%, respectively. In bilateral hearing loss group, the positive rate of GJB2 mutations was the highest in the profound group （43.8%） , and then severe （41.7%） , moderate （10.5%） and mild group （8.3%） （P〈0.05）. The positive rate o f SLC26A4 mutations was the highest in the severe group （41.7% ）, and then moderate （ 10.5% ）, mild （8.3%） and profound （6.3%） （P 〈 0.05）. Conclusion Hot deaf GJB2 and SLC26A4 mutations are the main mutation genes. The positive rate of GJB2 and SLC26A4 mutations is high in the groups with bilateral profound and severe hearing loss ,whose genetic testing should be put emphasis on. But we should also pay attention to the normal population screening, in order to ultimately achieve the purpose of prevention and blocking of hereditary deafness.

关 键 词：遗传性耳聋 非综合征型耳聋 热点突变 基因诊断 基因芯片 

分 类 号：R72[医药卫生—儿科]