大连地区108例非综合征性耳聋者及亲属耳聋基因测序结果分析

发布时间：2018-05-20 18:50

本文选题：非综合征性耳聋 + 耳聋　；参考：《中华耳科学杂志》2014年02期

【摘要】：目的了解大连地区非综合征性耳聋者及直系亲属耳聋基因突变情况。方法收集大连地区非综合征型耳聋患者及部分直系亲属共108例(患者98例,亲属10人),行纯音测听、声导抗测听及脑干诱发电位等听功能检查,采集末梢血用Ion torrent半导体测序方法,检测GJB2、GJB3、GJB6和SLC26A4基因的全外显子和线粒体12S rRNA基因的2个突变位点。结果病理性基因突变在108例受检者中检出率为41.7%(45/108),98例患者中检出率为38.8%(38/98),涉及3个基因23个突变位点,发现1例非常罕见的SLC26A4 IVS15-2AT剪接位点杂合突变。38例患者中34例(89.5%,34/38)为单基因突变,其中13例为复合杂合突变、6例为纯合突变;另外4例(10.5%,4/38)有两个基因同时发生突变。38例患者的42例次基因突变中,27例次(64.3%,27/42)为GJB2基因突变,12例次(28.6%,12/42)为SLC26A4基因突变,3例次(7.1%,3/42)为GJB3基因突变,没有检测到GJB6、12S rRNA基因突变;听力筛查不通过、经ABR测试为中重度感音神经性耳聋患儿33例,15例(45.5%,15/33)检测到病理性基因突变;成人散发性双耳感音神经性耳聋患者62例,病理性基因突变检出20例(32.3%,20/62)。结论大连地区98例非综合征性耳聋者,超过1/3检测到病理性耳聋基因突变,并以GJB2基因突变最常见。听力筛查通过的高危儿童及原因不明的双侧感音神经性耳聋者,实施热点致聋基因测序可以提高耳聋的病因诊断率。
[Abstract]:Objective to investigate the mutation of deafness gene in non-syndromic deafness patients and their immediate relatives in Dalian. Methods 108 patients with non-syndromic deafness and partial direct relatives (98 patients and 10 relatives) were examined with pure tone audiometry, acoustic conductance audiometry and brainstem evoked potential. The total exon of GJB2GJB3GJB6 and SLC26A4 gene and two mutation sites of mitochondrial 12s rRNA gene were detected by Ion torrent semiconductor sequencing in peripheral blood. Results the detection rate of pathological gene mutation in 108 subjects was 41.745% 108U / 98. The detection rate was 38.8% 38 / 98, involving 23 mutation sites of 3 genes. A very rare heterozygous mutation of SLC26A4 IVS15-2AT splicing site was found in 34 cases of SLC26A4 IVS15-2AT splice site heterozygous mutation in 34 cases (89.5% 38). Among them, 13 cases were compound heterozygous mutations and 6 cases were homozygous mutations. Of the 42 mutations in 38 patients, 27 were GJB2 gene mutations, 12 were SLC26A4 gene mutations, 3 were GJB3 gene mutations, and no GJB612S rRNA mutations were detected. The pathological gene mutation was detected in 33 children with moderate and severe sensorineural hearing loss by ABR test (45.55.55 / 33), 62 patients with sporadic binaural sensorineural deafness (n = 62), 20 patients with pathological gene mutation (n = 20). Conclusion in 98 cases of non-syndromic deafness in Dalian area, more than a third of pathological deafness gene mutations were detected, and GJB2 gene mutation was the most common. In children with high risk of hearing screening and bilateral sensorineural deafness with unknown causes, sequencing of hot spot deafness genes can improve the etiological diagnosis rate of deafness.
【作者单位】：大连医科大学附属第一医院耳鼻咽喉科;
【分类号】：R764.43

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