非综合征型聋SLC26A4基因IVS7-2A>G突变分析

山东大学耳鼻喉眼学报 ›› 2011, Vol. 25 ›› Issue (4): 32-35.

非综合征型聋SLC26A4基因IVS7-2A>G突变分析

李建瑞1，刘涛1，严江伟2，杨雅冉2，李琦3，戴朴4

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，解放军总医院聋病分子诊断中心，北京 100853

收稿日期:2010-12-21 修回日期:2011-04-22 出版日期:2011-08-16 发布日期:2011-08-16
作者简介:李建瑞(1956- )，男，主任医师，教授，硕士生导师，主要从事耳聋的基础与临床研究工作。 Email：ruixueshuo@sohu.com
基金资助:
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)。

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

LI Jian-rui1， LIU Tao1， YAN Jiang-wei2， YANG Ya-ran2， LI Qi3， DAI Pu4

1. Department of Otorhinolaryngology， Beijing Chui Yang Liu Hospital， Beijing 100022, China；
2. Beijing Institute of Genomic， Chinese Academy of Sciences， Beijing 100029, China；
3. Department of Otorhinolaryngology， Hospital for Sick Children Attached to Nanjing Medical University，
Nanjing 210029, Jiangsu, China； 4. Department of Otorhinolaryngology Head and Neck Surgery，
General Hospital of People′s Liberation Army， Beijing 100853, China

Received:2010-12-21 Revised:2011-04-22 Online:2011-08-16 Published:2011-08-16

摘要/Abstract

摘要：

目的通过分析非综合征型聋患者中SLA26A4基因IVS72 A>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。IVS7-2 A>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。

关键词: 耳聋；前庭水管；突变；DNA

Abstract:

Objective To explore the signification of genes by analyzing the prevalence of SLC26A4 IVS7-2A>G mutation in 95 patients with non-syndromic hearing 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 testing 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．

Key words: Hearing loss； Vestibular aqueduct； Mutation； DNA

中图分类号:

R764.43

李建瑞1，刘涛1，严江伟2，杨雅冉2，李琦3，戴朴4. 非综合征型聋SLC26A4基因IVS7-2A>G突变分析[J]. 山东大学耳鼻喉眼学报, 2011, 25(4): 32-35.

LI Jian-rui1， LIU Tao1， YAN Jiang-wei2， YANG Ya-ran2， LI Qi3， DAI Pu4. Molecular genetic analysis of the SLC26A4 IVS7-2A>G mutation in patients with non-syndromic hearing loss[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2011, 25(4): 32-35.

参考文献

相关文章 8

[1]	卢振东1，杨军2. 听觉剥夺和耳蜗内电刺激引起幼鼠听觉通路bdnf和c-fos基因及蛋白改变[J]. 山东大学耳鼻喉眼学报, 2012, 26(3): 17-23.
[2]	梁志成，覃冠锻，莫炼. 特发性突聋伴眩晕对患者预后的影响[J]. 山东大学耳鼻喉眼学报, 2012, 26(2): 42-43.
[3]	王利伟1，3,曹世峰2，李玲香1，刘涛3，付春华3，李建瑞1，3. 遗传性耳聋家系的收集和保存[J]. 山东大学耳鼻喉眼学报, 2012, 26(1): 22-25.
[4]	李建瑞1，刘涛1，严江伟2，杨雅冉2，王利伟3. 散发性耳聋GJB2基因突变分析[J]. 山东大学耳鼻喉眼学报, 2011, 25(6): 33-36.
[5]	胡玥，陈继川，吴晓平，任红苗，姬长友. 构建Ad-XIAP感染原代培养老年性聋模型小鼠皮层神经细胞的实验研究[J]. 山东大学耳鼻喉眼学报, 2011, 25(4): 16-19.
[6]	刘绮明,马钊恩,翟锦明,丘理子,毛敏,张建国. 不同类型鼓室图患者中耳共振频率分析[J]. 山东大学耳鼻喉眼学报, 2011, 25(4): 29-31.
[7]	张庆泉王强陈秀梅. 疏血通治疗急性低频感音神经性聋42例[J]. 山东大学耳鼻喉眼学报, 2009, 23(4): 33-34.
[8]	边致强，屈传强综述，刘亚群审校. 多层螺旋CT对婴幼儿先天性感音性耳聋的诊断价值[J]. 山东大学耳鼻喉眼学报, 2009, 23(6): 41-.

多维度评价

Viewed

Full text

Abstract

Cited

Shared

Discussed