徐州地区354例耳聋患者GJB2及SLC26A4基因突变筛查分析

An Analysis of GJB2 and SLC26A4 Gene Mutation Screening of Deafness Patients in Xuzhou Area

燕志强;卢宇;王燕飞;张秀菊;段宏;程静;袁慧军;韩东一;

1:解放军第97医院耳鼻咽喉-头颈外科

2:解放军总医院耳鼻咽喉-头颈外科

3:第三军医大学西南医院医学遗传中心

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919-2A>G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,919-2A>G为SLC26A4基因突变主要形式。
关键词
耳聋;GJB2;SLC26A4;基因突变
基金项目(Foundation):
作者
燕志强;卢宇;王燕飞;张秀菊;段宏;程静;袁慧军;韩东一;
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