徐州地区354例耳聋患者GJB2及SLC26A4基因突变筛查分析

发布时间：2018-05-05 10:39

本文选题：耳聋 + GJB　；参考：《听力学及言语疾病杂志》2017年02期

【摘要】：目的从分子遗传学水平探讨徐州市重度及极重度感音神经性聋患者的病因学特点。方法采集徐州市特殊教育学校共354例重度或极重度感音神经性聋患者的血样,提取DNA,利用SNPscan技术对其GJB2和SLC26A4基因突变进行检测,分析基因突变检出率及突变形式。结果 354例患者中共165例(46.61%,165/354)检出GJB2或SLC26A4基因致病突变,其中108例(30.51%,108/354)检出GJB2基因突变,50例(14.12%,50/354)为复合杂合突变,58例(16.38%,58/354)为纯合突变,其中235delC基因纯合突变54例;57例(16.10%,57/354)检出SLC26A4基因突变,其中复合杂合突变37例(10.45%,37)354,纯合突变20例(5.65%,20/354),均为919-2AG纯合突变。结论 GJB2及SLC26A4基因为徐州地区重度或极重度感音神经性聋人群中的常见致病基因,235delC为GJB2基因突变主要形式,919-2AG为SLC26A4基因突变主要形式。
[Abstract]:Objective to investigate the etiological characteristics of severe and extremely severe sensorineural deafness in Xuzhou City. Methods the blood samples of 354 patients with severe or extremely severe sensorineural hearing loss were collected from Xuzhou Special Education School. The GJB2 and SLC26A4 gene mutations were detected by SNPscan technique. The mutation detection rate and mutation form were analyzed. Results GJB2 or SLC26A4 gene mutations were detected in 165 patients with 354 patients (46.61and 165 / 354). Among them, 108 patients (30.51and 108R / 354) detected GJB2 gene mutations. 50 cases were identified as complex heterozygous mutations. 58 cases (16.3858 / 354) were homozygous mutations. Among them, 54 cases were homozygous mutations of 235delC gene, 57 cases (16.1057r354) were identified as homozygous mutations. Among them, 37 cases of compound heterozygous mutation (10.45%) and 20 cases of homozygous mutation (20 cases) were 919-2AG homozygous mutations. Conclusion GJB2 and SLC26A4 gene is the main mutation form of GJB2 gene because of the common pathogenic gene of 235delC in the population of severe or extremely severe sensorineural hearing loss in Xuzhou area. The main form of mutation of GJB2 gene is G919-2AG, which is the main form of mutation of SLC26A4 gene.
【作者单位】：解放军第97医院耳鼻咽喉-头颈外科;解放军总医院耳鼻咽喉-头颈外科;第三军医大学西南医院医学遗传中心;
【分类号】：R764.43

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