非综合征型聋SLC26A4基因IVS7-2A>G突变分析  

Molecular genetic analysis of the SLC26A4 IVS7-2A>G mutation in patients with non-syndromic hearing loss

作　　者：李建瑞[1] 刘涛[1] 严江伟[2] 杨雅冉[2] 李琦[3] 戴朴[4,5] 

机构地区：[1]北京市垂杨柳医院耳鼻咽喉科,北京100022 [2]中国科学院北京基因组研究所,北京100029 [3]南京医科大学附属南京儿童医院耳鼻咽喉科,江苏南京210029 [4]解放军总医院耳鼻咽喉头颈外科 [5]解放军总医院聋病分子诊断中心,北京100853

出　　处：《山东大学耳鼻喉眼学报》2011年第4期32-35,共4页Journal of Otolaryngology and Ophthalmology of Shandong University

基　　金：北京市自然科学基金(7092049);北京市垂杨柳医院科研启动基金(200901)

摘　　要：目的通过分析非综合征型聋患者中SLA26A4基因IVS7-2A>G突变,以探讨该突变的检测在非综合征型聋基因筛查和临床诊断中的意义。方法对95例非综合征型散发性耳聋患者进行病因问卷调查、纯音听阈测试、声导抗测试,用银染酶切和DNA序列分析的方法对SLA26A4基因IVS7-2A>G突变进行检测。结果 95例全部为感音神经性耳聋。IVS7-2A>G纯合突变6例,杂合突变4例,二者占10.5%,银染酶切法与测序法结果完全吻合。结论 SLC26A4基因IVS7-2A>G突变导致的耳聋有较高的比例;该基因位点是非综合征型耳聋基因筛查重要的检测位点之一;是大前庭水管扩大综合征临床诊断的重要依据。银染酶切法是该突变经济、简便的检测方法。Objective To explore the signification of genes by analyzing the prevalence of SLC26A4 IVS7-2A 〉 G mutation in 95 patients with non-syndromic heating loss from Erdos, Inner Mongolia. Methods The medical history of 95 deaf school students was recruited by a questionnaire survey. An audiological examination was conducted with pure-tone audiometry and acoustic immittance measurement. The SLC26A4 IVS7-2A 〉 G mutation was identified by both the tes- ting kit with PAGE silver staining and direct sequencing. Results 95 patients with non-syndromic hearing loss （SNHL） were all diagnosed as sensorineural hearing impairment. The positive rate was 10.5%. 6 homozygotes and 4 heterozygotes were found to carry the IVS7-2A 〉 G mutation by testing with PAGE silver staining. The results were all confirmed by sequence analysis. Conclusions The rate of the SLC26A4 IVS7-2A 〉 G mutation in this group was relatively high. SLC26A4 IVS7-2A 〉 G is one of the most important mutation spot in gene preventive testing for non-syndromic hearing loss. It is also significant evidence for diagnosing Dilated Vestibular Aqueduct Syndrome. The PAGE silver staining, method is convenient, inexpensive and suitable.

关 键 词：耳聋 前庭水管 突变 DNA 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]