摘要
目的:通过对山东省淄博市135例非综合征型耳聋患儿进行GJB2、GJB3、SLC26A4、WFS1和线粒体DNA 12SrRNA共5个基因16个突变位点检测,研究该地区耳聋基因突变情况。方法:采集135例非综合征型耳聋患儿外周血,以聚合酶链反应对16个突变位点进行目的片段扩增并直接测序。结果:在135例非综合征型耳聋患儿中,62例检测出基因突变,检出率45.9%(62/135),其中双等位基因突变(纯合突变+复合杂合突变)24例,检出率17.8%(24/135);38例仅检测到1个等位基因突变,检出率28.1%(38/135)。30例患儿检测出SLC26A4基因突变,检出率最高,为22.2%(30/135);其次是GJB2基因突变,19例患儿检测出GJB2基因突变,检出率14.1%(19/135)。共检测出突变等位基因86个,突变等位基因频率(突变等位基因数/等位基因总数)为31.9%(86/270),SLC26A4c.766_2A>G是最常见的突变,为11.11%(30/270);其次是GJB2c.235delC突变8.5%(23/270);SLC26A4c.2168A>G和WFS1c.2158A>G均有较高的突变检出率(2.6%)。结论:SLC26A4基因突变是导致本研究患儿非综合征型耳聋最常见的原因,其次是GJB2基因突变;SLC26A4c.766_2A>G是最常见的突变形式,其次是GJB2c.235delC突变;本研究检测出GJB3和WFS1基因突变,没有检测出线粒体DNA12SrRNA基因突变。
Objective：To explore the clinical signification of screening 16 target deafness mutations in GJB2,GJB3,SLC26A4,WFS1 and mitochondrial DNA 12 SrRNA in 135 children patients with non-syndromic sensorineural hearing loss（NSHL）in Zibo City,Shandong province.Method：Peripheral blood samples of 135 subjects in the study diagnosed as NSHL were collected;Polymerase chain reaction（PCR）and direct sequencing were used to analyze the 16 mutation spots.Result：Sixty-two cases of 135patients（45.9%,62/135）were found out to be carries of at least one pathogenic gene mutation.Among them,24cases（17.8%,24/135）had two mutated alleles（homozygote and compound heterozygote）,and 38cases（28.1%,38/135）were single mutant carriers.Among all the children patients,30cases（22.2%,30/135）had SLC26A4 mutations,and 19cases（14.1%,19/135）had GJB2 mutations.In the study 86 Mutant alleles were detected,and the allele frequency of SLC26A4 c.766_2AG and GJB2 c.235delC was 11.11%（30/270）and 8.5%（23/270）,respectively.The allele frequency of SLC26A4 c.2168A〉G and WFS1 c.2158AG is 2.6%（7/270）.Conclusion：SLC26A4 mutation is the primary cause of the patients with NSHL in this study,and GJB2 mutation is the secondary.The most common mutant form is c.766_2A〉G of SLC26A4,and the second is c.235 delC of GJB2.GJB3 and WFS1 mutations were detected,whereas mtDNA mutations were not found out in this study.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
北大核心
2015年第4期319-324,共6页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
基金
山东省医药卫生科技发展计划项目(No:2011HZ120)
