摘要
目的分析河南郑州和南阳地区聋儿教育机构儿童感音神经性聋患者中SLC26A4基因热点突变IVS7-2A>G和2168A>G发生频率,初步探讨大前庭水管相关的SLC26A4基因热点突变在河南地区聋病残疾人群中的分子诊断意义,为地区聋病防治工作的有效开展奠定理论基础。方法收集南阳聋校、郑州聋儿康复中心的感音神经性聋患者76例,进行聋病病因问卷调查、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SLC26A4基因的热点突变IVS7-2A>G和2168A>G进行检测,对突变阳性者行颞骨CT检查,并对其发生频率进行分析。结果热点突变基因检测显示,在76例聋病患者中,携带SLC26A4基因IVS7-2A>G和2168A>G突变的例数共计21例,总阳性检出率为27.63%(21/76)。IVS7-2A>G纯合突变5例,IVS7-2A>G杂合突变12例,2168A>G杂合突变2例,2168A>G/IVS7-2A>G复合杂合突变2例。研究对象中SLC 26A4基因2168A>G/IVS7-2A>G双等位基因的突变率为9.21%(7/76),IVS7-2A>G突变率为25.00%(19/76),2168A>G突变率为5.26%(4/76),对所有检测到突变的患者行颞骨CT检查,17例存在前庭导水管扩大,前庭导水管扩大率为80.95%(17/21)。结论河南地区聋儿教育机构的不明原因感音神经性聋患者中存在较高的IVS7-2A>G、2168A>G遗传性聋发生率;IVS7-2A>G和2168A>突变检测阳性对患儿父母的婚配、生育具有一定的指导意义。
OBJECTIVE To study frequency of SLC26A4 genes hot-spot mutations IVS7-2 A〉G and 2168A〉G among young patients suffered from sensorineural hearing loss from the deaf education institutions in two districts of Henan Province, to determine its value in molecular diagnosis among people with deafness, thus to establish the foundation for further development of prevention and intervention program for the deafness. METHODS 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 76 hearing-impaired patients enrolled in the two education institutions in Henan Province. RESULTS Among these hearing loss patients, 21 cases carried SLC26A4 IVS7-2 A〉G and 2168A〉G mutations, yielding the total positive detection rate of 27.63%（21/76）.There were 19 SLC26A4 IVS7-2 A〉G mutations carriers（5 homozygous mutation cases and 14 heterozygous mutation cases）, 4 SLC26A4 2168A〉G mutations carriers（all were heterozygous mutation cases） and 2 SLC26A4 IVS7-2 A〉G/ SLC26A4 2168A〉G compound heterozygous mutations carriers. In the research, object of biallelic mutation rate was 9.21%（7/76）, IVS7-2A〉G mutation rate was 25.00%（19/76）, 2168A〉G mutation rate was 5.26%（4/76）. All patients with detected mutations were performed CT scanning of temporal bone, and there were 17 patients with enlarged vestibular aqueduct. The incidence of the gene diagnosis conformed to the clinical one was 80.95%. CONCLUSION There was a high incidence of SLC26A4 IVS7-2 A〉G and 2168 A〉G mutation in sensorineural hearing loss with unknown reason in Henan Province. Molecular genetic screening for these mutations and genetic counseling were effective methods to prevent the occurrence of hereditary hearing loss.The study helped to increase our understanding of the distribution of SLC26A4 gene hot-spot mutations in relation to enlarged vestibular aqueduct syndrome among hearing disabled in Henan area. And it pro
出处
《中国耳鼻咽喉头颈外科》
CSCD
2014年第10期531-534,共4页
Chinese Archives of Otolaryngology-Head and Neck Surgery
