广西地区耳聋人群230例SLC26A4突变结果分析

发布时间：2018-01-12 17:39

本文关键词：广西地区耳聋人群230例SLC26A4突变结果分析　出处：《临床耳鼻咽喉头颈外科杂志》2016年19期 　论文类型：期刊论文

【摘要】：目的:分析广西地区耳聋人群中230例SLC26A4常见耳聋基因突变特点,为临床防聋及治聋提供参考。方法:对广西地区230例耳聋人群采用晶芯十五项遗传性耳聋基因检测试剂盒(微阵列芯片法),对SLC26A4耳聋基因常见的8个突变位点进行检测,并对检测结果及突变阳性患者的内耳CT表型进行统计学分析。结果:230例耳聋患者中,6例存在耳聋基因突变,阳性率为2.61%(6/230)。SLC26A4IVS7-2AG杂合突变2例(0.87%,2/230),1229CT纯合突变1例(0.43%,1/230),IVS7-2AG/IVS11+47TC/1548insC复合杂合突变2例(0.87%,2/230),1226GA复合杂合突变1例(0.43%,1/230)。结论:广西地区耳聋人群SLC26A4耳聋基因突变率低于全国水平,主要以IVS7-2AG突变位点为主,其中新发现的突变位点有2个:IVS11+47TC和1548insC,广西地区可能存在罕见的致聋基因突变位点。
[Abstract]:Objective: to analyze the characteristics of mutations in deafness patients in Guangxi 230 cases of SLC26A4 common deafness genes, for the clinical prevention of deafness and provide reference for the treatment of deafness. Methods: 230 cases of deaf people in Guangxi area by geedom fifteen genetic deafness gene detection kit (microarray method), 8 mutations were detected on SLC26A4 common deafness gene the inner ear CT phenotype and the detection results and mutation positive patients were analyzed statistically. Results: 230 cases of deafness patients, 6 cases of deafness gene mutations, the positive rate was 2.61% (6/230).SLC26A4IVS7-2AG heterozygous mutation in 2 cases (0.87%, 2/230), 1229CT homozygous mutation in 1 cases (0.43%, 1/230) IVS7-2AG/IVS11+47TC/1548insC, a compound heterozygous mutation in 2 cases (0.87%, 2/230), 1226GA compound heterozygous mutation in 1 cases (0.43%, 1/230). Conclusion: SLC26A4 deafness gene mutation rate of deaf people in Guangxi area is lower than the national level, mainly to IVS7-2AG mutation The loci are dominant, and there are 2 newly found mutation sites: IVS11+47TC and 1548insC, and there may be a rare mutation site in the Guangxi region.

【作者单位】：广西壮族自治区人民医院耳鼻咽喉科;广西中医药大学研究生学院;
【基金】：国家自然科学基金资助项目(No:81460097) 广西医疗卫生适宜技术研究与开发课题(No:S201421_05) 广西壮族自治区卫生厅自筹经费科研课题(No:Z2014215、Z2015351、Z2016608、Z2016593)
【分类号】：R764.43;R440
【正文快照】： 耳聋是临床上最常见的感觉障碍性疾病之一。目前导致耳聋的原因有环境因素和遗传因素。在中国耳聋人群中,最常见的致聋基因是GJB2,其次为SLC26A4基因突变[1]。研究报道,SLC26A4基因突变与大前庭水管综合征(large vestibular aqueduct syndrome,LVAS)密切相关,LVAS表现为前庭

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