5个大前庭水管综合征家系SLC26A4基因的检测分析

doi:10.6040/j.issn.1671-7554.0.2014.393

山东大学学报（医学版） ›› 2014, Vol. 52 ›› Issue (10): 90-95.doi: 10.6040/j.issn.1671-7554.0.2014.393

5个大前庭水管综合征家系SLC26A4基因的检测分析

朱发梅¹, 郑家法¹, 谢鼎华², 胡鹏²

1. 南华大学附属南华医院耳鼻咽喉科, 湖南衡阳 421002;
2. 中南大学湘雅二医院耳鼻咽喉科, 湖南长沙 410001

收稿日期:2014-06-16 修回日期:2014-09-25 出版日期:2014-10-10 发布日期:2014-10-10
通讯作者: 谢鼎华。E-mail：dhuaxie@163.com E-mail:dhuaxie@163.com

Analysis of SLC26A4 gene mutations in 5 families associated with enlarge vestibular aqueduct syndrome

ZHU Famei¹, ZHENG Jiafa¹, XIE Dinghua², HU Peng²

1. Department of Otolaryngology, the Affiliated Nanhua Hospital，University of South China，Hengyang 421002，Hunan，China;
2. Department of Otolaryngology，Second Xiangya Hospital of Central South University，Changsha 410001，Hunan，China

Received:2014-06-16 Revised:2014-09-25 Online:2014-10-10 Published:2014-10-10

摘要/Abstract

摘要： 目的分析5个大前庭水管综合征家系SLC26A4基因的分子流行病学特点。方法收集5个大前庭水管综合征家系的病史资料和家系成员的外周血，提取基因组DNA，应用耳聋基因芯片联合DNA测序法对5个家系的6例耳聋患者及11例听力正常者进行SLC26A4基因突变检测。结果 5个家系中共发现SLC26A4基因IVS7-2A>G、2168A>G、1229C>T、IVS15+5G>A、679G>C 5种不同的已知致病突变，6例患者均为复合杂合突变，11例听力正常者均为单个等位基因突变的杂合携带者。在所有的突变中，IVS7-2A>G突变的发生率最高。结论 5个家系的6例耳聋患者都是SLC26A4基因复合杂合突变导致前庭水管扩大，符合常染色体隐性遗传机制。

关键词: 遗传性耳聋, 基因突变, 前庭水管

Abstract: Objective To analyze the molecular epidemiology of SLC26A4 mutations in 5 families associated with enlarge vestibular aqueduct syndrome(EVAS). Methods 5 families associated with EVAS were included in this study. Family history and clinical information were collected from all families. Genomic DNA samples were extracted from peripheral blood of all the members in those families and examined with the DNA microarray and sequencing in SLC26A4 gene. Results We found 5 types of mutation totally, including IVS7-2A>G,2168A>G,1229C>T,IVS15+5G>A and 679G>C. Compound heterozygous mutations in SLC26A4 gene were found in 6 patients, and 11 cases of normal hearing were also heterozygous carriers of mutation. IVS7-2A>G was the most common mutation. Conclusion Hearing loss in the 6 patients of the 5 families is all caused by different biallelic mutations of SLC26A4, in accordance with autosomal recessive genetic mechanisms.

Key words: Vestibular aqueduct, Hereditary hearing loss, Mutation

中图分类号:

R764.43

朱发梅, 郑家法, 谢鼎华, 胡鹏. 5个大前庭水管综合征家系SLC26A4基因的检测分析[J]. 山东大学学报（医学版）, 2014, 52(10): 90-95.

ZHU Famei, ZHENG Jiafa, XIE Dinghua, HU Peng. Analysis of SLC26A4 gene mutations in 5 families associated with enlarge vestibular aqueduct syndrome[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2014, 52(10): 90-95.

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5个大前庭水管综合征家系SLC26A4基因的检测分析

Analysis of SLC26A4 gene mutations in 5 families associated with enlarge vestibular aqueduct syndrome

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