辽宁地区非综合征型耳聋患者常见耳聋基因突变分析

发布时间：2018-08-24 17:38

【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.919-2AG杂合1例,c.235del C纯合/c.919-2AG杂合1例。230例存在SLC26A4基因突变,其中c.919-2AG位点纯合突变6例、单杂合突变17例,c.2168AG位点纯合突变1例、单杂合突变2例,c.2168AG/c.919-2AG复合杂合突变2例,c.919-2AG/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。
[Abstract]:Objective: to analyze the characteristics and regularity of common hot spot mutations of deafness gene in severe and very severe non-syndromic deafness patients in Liaoning. Methods: 128 patients with non-syndromic deafness were collected from the first affiliated Hospital of China Medical University. Peripheral blood was collected and DNA, was extracted from it to detect the hot spot mutation sites of mitochondrial 12SrRNA of 4 GJB2,GJB3,SLC26A4, genes in Chinese population by using deafness gene chip. At the same time, combined with questionnaire survey of deafness, audiometry and CT examination of temporal bone. Results among the 128 patients, 52 (40.6%) had different mutations of GJB2 gene, 10 of them had homozygous mutations of c.235del C locus. 5 cases of single heterozygosity mutation 1 case of single heterozygosity mutation of c. 35del G locus: 1 case of single heterozygosity mutation of c. 235del C/c.176_191del 16 compound heterozygous mutation 1 case of c. 35del C/c.176_191del 16 complex heterozygous mutation 1 case of c. 299920 del AT homozygote / c. 919-2AG heterozygosity 1 case The heterozygosity of homozygote / rc.919-2AG showed that there was a mutation of SLC26A4 gene in 1 case. There were 6 homozygous mutations at c.919-2AG locus, 1 homozygous mutation at C2168AG locus in 17 single heterozygosity mutations, and 2 heterozygous mutations at single heterozygote locus in 2 patients with complex heterozygous mutation of c. 919-2AGR / GJB2c.235del C, which had no GJB3 and mitochondrial 12SrRNA gene mutations, which were related to the small sample size. At the gene level, 24 cases (18.8%) were diagnosed as hereditary deafness and 28 cases (21.9%) as carriers of hereditary deafness gene mutation. Conclusion: there is a high incidence of hereditary deafness in patients with deafness in Liaoning province. The technique of gene chip diagnosis of deafness can be used for rapid screening, diagnosis and rehabilitation of deaf children.
【作者单位】：中国医科大学附属第一医院耳鼻咽喉科;
【分类号】：R764.43

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