辽宁地区非综合征型耳聋患者常见耳聋基因突变分析  

Common deafness gene mutations of non-syndromic hearing loss in Liaoning

作　　者：田颖[1] 王铮[1] 杨宁[1] 惠莲[1] 姜学钧[1] 

机构地区：[1]中国医科大学附属第一医院耳鼻咽喉科,沈阳110001

出　　处：《临床耳鼻咽喉头颈外科杂志》2014年第16期1244-1247,共4页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

摘　　要：目的:分析辽宁地区重度和极重度非综合征型耳聋患者常见耳聋基因热点突变的特点及规律。方法:收集中国医科大学附属第一医院就诊的非综合征型耳聋患者128例,采集外周血并从中提取DNA,应用耳聋基因芯片检测中国人群中常见的4个基因GJB2、GJB3、SLC26A4、线粒体12SrRNA的热点突变位点,同时结合耳聋问卷调查、听力学检测及颞骨CT检查。结果:128例患者中52例(40.6%)存在不同的被检测基因位点突变:122例存在GJB2基因突变,其中c.235del C位点纯合突变10例,单杂合突变5例;c.176_191del 16位点单杂合突变1例;c.35del G位点单杂合突变1例;c.235del C/c.299_300del AT复合杂合突变1例,c.235del C/c.176_191del 16复合杂合突变1例,c.35del G/c.176_191del 16复合杂合突变1例;c.299_300del AT纯合/c.919-2A>G杂合1例,c.235del C纯合/c.919-2A>G杂合1例。230例存在SLC26A4基因突变,其中c.919-2A>G位点纯合突变6例、单杂合突变17例,c.2168A>G位点纯合突变1例、单杂合突变2例,c.2168A>G/c.919-2A>G复合杂合突变2例,c.919-2A>G/GJB2c.235del C复合突变2例。3无GJB3和线粒体12SrRNA基因突变,考虑与样本量少有关。在基因水平,明确诊断遗传性聋者24例(18.8%),遗传性耳聋基因突变携带者28例(21.9%)。结论:辽宁地区耳聋患者存在较高的遗传性耳聋发生率,耳聋基因芯片诊断技术可应用于临床中进行快速筛查、诊断并指导聋儿康复。Investigate common deafness gene mutations in patients with severe and profound non- syndromic hearing loss in Liaoning in order to understand their hereditary etiologies and characteristics at the mo- lecular level. Method： Peripheral blood samples were obtained and the DNA templates were extracted from 128 non- syndromic hearing loss patients who are sporadic in clinics. The deafness gene chip was applied to detect hot-spot deafness gene mutations including GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA. Deafness etiology questionnaires, pure tone audiometry, auditory brains tem response, tympanometry and temporal bone CT were al- so applied. Resuit..Various types of gene locus mutations were seen in 52 of the 128 patients （40.6%）：① GJB2 gene mutations （n=22） included c. 235 del C homozygous mutation （n= 10）, c. 235 del C heterozygous mutation （n=5）;c. 176_191 del 16 heterozygous mutation （n=l）;c 35 del G heterozygous mutation （n=l）;c. 235 del C/ c. 299_300 del AT mutation （n=l）, c. 235 del C/c. 176_191 del 16 mutation （n= 1）, c. 35 del G/c. 176_191 del 16 mutation （n=l） ;c. 299_300 del AT/c. 919-2 A〉G mutation （n=l）, c. 235 del C/c. 919-2 A〉G muta- tion （n=l）. ②SLC26A4 gene mutations （n=30） included c. 919-2 A〉G homozygous mutation （n=6）, c. 919-2 A〉G heterozygous mutation （n= 17）, c. 2168 A〉G homozygous mutation （n= 1）, c. 2168 A〉G heterozygous mutation （n= 2）, c. 2168 A 〉G/c. 919-2 A 〉G mutation （n = 2）, c. 919-2 A ~G/GJB2 c. 235 del C mutation （n=2）; ③No GJB3 and mitochondrial 12S rRNA mutation. Genetic deafness was confirmed at the gene level in 24 cases （18.8%） and 28 patients （21.90%）were diagnosed as carriers of genetic deafness gene mutations. Conclusion：Genetic deafness occupies a large population in deaf community in Liaoning. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss and provide theoretical

关 键 词：聋 基因突变 遗传 基因芯片 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]