湖北地区306例极重度聋患儿基因芯片筛查分析

发布时间：2018-03-07 01:35

本文选题：耳聋　切入点：基因突变　出处：《临床耳鼻咽喉头颈外科杂志》2014年10期 　论文类型：期刊论文

【摘要】：目的:通过检测湖北地区极重度感音神经性聋患儿常见耳聋基因突变情况,分析该人群的分子病因学特点,为临床耳聋防治和遗传咨询提供参考。方法:收集306例湖北地区极重度感音神经性聋患儿,抽取外周血,提取DNA,应用遗传性耳聋基因芯片检测GJB2、GJB3、SLC26A4和线粒体12SrRNA 4个基因的9个突变热点。对所有携带SLC26A4基因突变患者进行颞骨CT扫描。结果:306名患儿中,132例(43.14%)检出携带不同基因突变,其中有2例携带双基因突变。GJB2基因突变检出率为29.41%(90/306),SLC26A4基因突变检出率为13.72%(42/306),线粒体12SrRNA基因突变检出率为0.65%(2/306)。本组患者未检出GJB3基因突变。36例携带SLC26A4基因突变者颞骨CT扫描显示前庭水管扩大。结论:GJB2基因和SLC26A4基因是本组患儿最主要的致聋基因,其中235delC突变为最常见的突变位点,其次为IVS7-2AG突变。筛查SLC26A4基因常见突变有助于大前庭水管综合征的诊断。
[Abstract]:Objective: to analyze the molecular etiological characteristics of deafness gene mutation in children with very severe sensorineural hearing loss in Hubei province. Methods: 306 children with extremely severe sensorineural hearing loss in Hubei were collected and peripheral blood samples were collected. DNA was extracted and 9 hot spots of GJB2GJB3OSLC26A4 and mitochondrial 12s rRNA were detected by genetic deafness gene chip. Temporal bone CT scanning was performed on all patients with SLC26A4 gene mutation. Results different gene mutations were detected in 132 of 306 children with SLC26A4 gene mutation. The detection rate of SLC26A4 gene mutation was 29.41%, and that of SLC26A4 gene was 13.72%, and that of mitochondrial 12s rRNA gene was 0.65% 2 / 306%. No mutation of GJB3 gene was detected in this group. 36 cases with SLC26A4 gene mutation were examined by CT scan of temporal bone. The vestibular aqueduct was enlarged. Conclusion the gene of GJB2 and SLC26A4 are the most important deafening genes in this group. Among them, 235delC mutation was the most common mutation site, followed by IVS7-2AG mutation. Screening for common mutations of SLC26A4 gene was helpful for the diagnosis of large vestibular aqueduct syndrome.
【作者单位】：华中科技大学同济医学院附属协和医院耳鼻咽喉科;
【基金】：国家重点基础研究发展计划(973计划,No:2011CB504504) 卫生部行业基金《耳聋出生缺陷预防和干预规范化及推广应用》(No:201202005) 卫生部行业专项《国产人工耳蜗优化及临床技术研究》(No:201202001)
【分类号】：R764.43

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