先天性非综合征性耳聋患者 100 例常见耳聋基因分析

目的应用耳聋基因芯片对先天性非综合征性耳聋（NSHI）患者进行基因筛查。方法采集宁波市儿童听力筛查诊断中心确诊的100例先天性NSHI患者的外周血，提取DNA。应用基质辅助激光解吸／离子化飞行时间质谱多态性分型技术检测缝隙连接蛋白32（GJB2）、GJB3、SLC26A4、线粒体DNA（mtDNA）、12SrRNA热点突变位点。结果共检出GJB2基因突变22例（22％）、SLC26A4基因突变12例（12％）；未检出GJB3基因和线粒体12SrRNA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34％，该人群遗传性聋GJB2突变的发生率最高，SLC26A4突变的发生率次之。

Deafness gene analysis of 100 patients with congenital nonsyndromic hearing impairment

Objective To screen deafness gene in congenital nonsyndromic hearing impairment （NSHI） patients with Matrix-assisted laser desorption or ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. Methods One hundred patients with congental nonsyndromic sensorineural hearing loss admitted to the children hearing screening and diagnostic center of Ningbo were enrolled in this study. Their peripheral blood samples were taken and tested using MALDI-TOF-MS. Hot mutation sites of four genes including gap junction protein beta-2 （ GJB2）, GJB3, SLA26A4 and mitochondrial 12S rRNA were detected. Results The positive rate of GJB2 was 22% （22 cases）and of SLA26A4 was 12% （ 12 cases）. Cases with GJB3 or mitochondrial 12S rRNA mutation were not found. Conclusions In this study ,the total positive rate of four genes was 34%. The positive rate of GJB2 was the largest in four genes and SLA26A4 was the second.