摘要
目的：调查河南地区不明原因感音神经性聋病因学情况，探明本地区大前庭水管综合征（large vestibular aqueduct syndrome，LVAS）基因SLC26A42168A〉G的突变率。方法：收集河南地区聋校、聋儿康复中心及2005年2月-2006年5月至郑州大学第一附属医院耳鼻咽喉科门诊的感音神经性聋患者95例，进行耳聋病因问卷调查、听力学测试，抽取患者血样提取基因组DNA，运用直接测序法对突变热点2168A〉G进行筛查。对突变阳性者行颞骨CT检查。结果：热点突变基因检测显示，2168A〉G在不明原因感音神经性耳聋患者的突变率为6．32％，对所有检测到突变的患者行颞骨CT检查，其前庭导水管扩大率为83．3％。结论：河南地区不明原因感音神经性耳聋患者中存在较高的2168A〉G遗传性耳聋发生率；通过聋病分子诊断，可达到防聋、指导聋儿康复及评估耳聋预后等积极效果。
Objective：To survey the etiology of sensorineural hearing loss with unknown reason and the incidence of the mutation of SLC26A4 2168A〉G in Henan province. Method： The evaluation of hearing loss, etiologic survey,the molecular genetic analysis and temporal bone CT examination for genes common to hereditary hearing disorders were performed in 95 hearing-impaired patients in Henan province. Result：In the deafness group, the incidence of large vestibular aqueduct syndrome （LVAS） which correlates with SLC26A4 2168A〉G is 6.32%. The incidence of the gene diagnosis conformed to the clinical one is 83.30/oo. Conclusion.- There is a high incidence of SLC26A4 2168 A〉G mutation in sensorineural hearing lass with unknown reason. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
CSCD
北大核心
2008年第22期1026-1027,1031,共3页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
关键词
耳聋
大前庭水管综合征
基因突变
Deafness
Large vestibulae aqueduct syndrome
Gene mutation
