2019 年第 12 期 第 14 卷

青海省不同民族非综合征型感音神经性耳聋患者常见耳聋基因筛查情况

Screening of common deafness genes causing nonsyndromic hearing loss among different nationalities in Qinghai Province

作者：宋翊飒王菲管明凤高鹏翀甘青

英文作者：

单位：810007西宁，青海省人民医院耳鼻咽喉头颈外科

英文单位：

关键词：非综合征型感音神经性耳聋；基因突变；GJB2基因

英文关键词：

• 摘要：

• 【摘要】目的    分析青海省汉族、藏族和回族非综合征型感音神经性耳聋（NSHL）患者常见耳聋基因筛查情况。方法    选择2016年12月至2018年12月于青海省内特殊教育学校、聋儿语言培训中心和康复中心接受学习和康复训练的NSHL患者2 240例，分别采用晶芯耳聋基因试剂盒进行九项遗传性耳聋基因检测，比较汉族、藏族、回族NSHL患者常见耳聋基因突变检出情况及其突变位点检出率。结果    2 240例NSHL患者中共发现480例携带耳聋基因，其中GJB2基因突变200例（41.67%），SLC26A4基因突变120例（25.00%），12SrRNA基因突变159例（33.12%），1例（0.21%）汉族患者GJB3基因突变，因检出率较低未纳入统计。汉族GJB2基因突变检出率高于回族和藏族［16.79%(131/780)比5.10%（29/569）、4.49%（40/891）］，差异均有统计学意义（均P＜0.05）。剔除1例GJB3基因突变汉族患者后，479例患者3个突变基因共检测出8个位点596例次突变，GJB2、SLC26A4和12SrRNA基因突变位点检出率分别为47.65%（284/596）、22.82%（136/596）、29.53%（176/596）,其中GJB2基因中c.235delC突变位点检出率最高，占25.67%（153/596）。结论    GJB2、SLC26A4以及线粒体基因12SrRNA为青海省NSHL患者常见致病基因。

• 【Abstract】Objective    To explore the common deafness genes of nonsyndromic hearing loss（NSHL） among Han, Tibetan and Hui patients in Qinghai Province. Methods    A total of 2 240 patients with NSHL were enrolled from special schools, language training and rehabilitation centers for deaf children in Qinghai Province between December 2016 and December 2018. Nine hereditary deafness genes were detected among Han, Tibetan and Hui patients. Results    Among 2 240 NSHL patients, 480 patients carried deafness genes, including 200 cases(41.67%) with GJB2 gene mutation, 120 cases(25.00%) with SLC26A4 gene mutation, 159 cases(33.12%) with 12SrRNA gene mutation, and 1 case(0.21%) of Han patient with GJB3 gene mutation which was excluded because of the low detection rate. Detection rate of GJB2 gene mutation in Han patients was significantly higher than that in Hui and Tibetan patients［16.79%(131/780) vs 5.10%(29/569), 4.49%(40/891)］(all P<0.05). Among 596 mutations of 8 sites in 479 patients(except for the 1 case with GJB3 gene mutation), detection rates of GJB2, SLC26A4 and 12SrRNA mutation were 47.65%(284/596), 22.82%(136/596) and 29.53%(176/596), respectively. Mutation of c.235 delC site in GJB2 gene showed the highest detection rate［25.67%(153/596)］. Conclusion    GJB2, SLC26A4 and mitochondrial gene 12SrRNA are the common pathogenic genes of NSHL in Qinghai Province.