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IVS7-2A>G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。
Objective:To investigate characteristics of molecular etiology of children with profound sensorineural hearing loss in H ubei province,and to provide reference for deafness treatment and genetic counseling. Method: Three hundred and six children with profound sensorineural hearing loss in Hubei province were enrolled, their genomic DNA were extracted from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the GJB2,GJB3,SLC26A4,and mitochondria 12SrRNA gene. All patients with SLC26A4 gene muta- tion were given temporal bone CT scan. Result:One hundred and thirty-two(43. 14%) out of 306 children were found carrying at least one pathogenic gene mutation. The mutation rates of GJB2, SLC26A4 and mitochondria DNA 12SrRNAgenewere29.41%(90/306),13.72%(42/306) and 0. 65%(2/306) ,respectively. None out of 306 children was detected GJB3 gene mutation. Thirty-six patients carrying SLC26A4 gene mutation were detected enlarged vestibular aqueduct by CT scan. Conclusion: Mutations of GJB2 and SLC26A4 gene are two major pathogenic gene for genetic hearing loss in children. 235de1C mutation is the main mutation type, followed by IVS7-2AI〉 G mutation type. The screening of SLC26A4 gene common mutations contribute to the diagnosis of enlarged vestibular aqueduct syndrome.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
北大核心
2014年第10期680-684,共5页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
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)
关键词
耳聋
基因突变
基因诊断
基因芯片
deafness
gene mutation
gene diagnosis
DNA microarray