湖北地区306例极重度聋患儿基因芯片筛查分析

DNA microarray screening analysis in children with profound hearing impairment in Hubei province

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.