山西太原129例重度非综合征型感音神经性耳聋基因的筛查

Screening of common deafness genes in 129 severe to profound non-syndromic sensorineural hearing loss patients in Taiyuan

目的应用耳聋基因芯片对重度极重度非综合征型感音神经性耳聋患者进行筛查。方法采集本地区聋哑学校和门诊散发的重度极重度非综合征型感音神经性耳聋患者129人的外周血并提取DNA,应用耳聋基因芯片检测GJB2,GJB3,SLC26A4,线粒体DNA(mitochondrial,mtDNA)12SrRNA热点突变位点。结果该耳聋人群中与筛查位点有关的耳聋比例占41.09%,共检出GJB2基因突变26例(20.16%);mtDNA突变8例(6.2%);SLC26A4基因突变21例(16.28%);未检出GJB3基因突变。结论本组耳聋人群中与筛查位点有关的耳聋比例高达41.09%,GJB2突变是该人群遗传性聋的最常见病因,SLC26A4突变为第二常见病因。

Objective To identify deafness genes mutation distribution using a deafness gene screening test chip in patients with severe to profound non-syndromic sensorineural hearing loss. Method Peripheral blood specimens were col- lected and the DNA templates were extracted from 129 patients with severe to profound non-syndromic sensorineural hear- ing loss who were sporadically identified in schools for the deaf and mute and in otology clinics in Taiyuan. A deafness gene screening chip was used to detect the GJB2, GJB3, SLC26A4, and mitochondrial DNA 12SrRNA hotspot muta- tions sites. Results In the 129 patients, hearing loss in 41.09% was associated with the screened deafness genes, in cluding the GJB2 gene mutation（n=26, 20.16%）, the mtDNA mutation（n=8, 6.2% ）, and the SLC26A4 gene mutations（n=21, 16.28%）. The GJB3 gene mutation was not detected. Conclusion Screening in this hearing loss patient population shows a deafness gene mutation rate as high as 41.09%, with the GJB2 mutations being the most common followed by the SLC26A4 mutations.