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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 ves-tibular aqueduct syndrome,LVAS)基因SLC26A4 2168A>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 investigate the etiology of sensorineural deafness of unexplained Henan Province and to identify the mutation rate of SLC26A4 2168A> G in large ves-tibular aqueduct syndrome (LVAS) gene in this area. Methods: Ninety-five patients with sensorineural deafness were enrolled in deaf school, deaf children rehabilitation center in Henan Province and from February 2005 to May 2006 in the Department of Otolaryngology Clinic of the First Affiliated Hospital of Zhengzhou University. The etiology questionnaire, Take the blood samples from patients for genomic DNA extraction and direct sequencing to screen mutation hot spot 2168A> G. Temporal bone CT examination of positive mutation. Results: Mutations of 2168A> G in patients with sensorineural deafness of unexplained sensorineural hearing loss were 6.32%. All the mutated patients were examined by temporal bone CT. The rate of vestibular aqueduct enlargement was 83.3%. Conclusion: There is a high incidence of hereditary deafness 2168A> G in patients with sensorineural hearing loss of unknown reason in Henan Province. The molecular diagnosis of deafness can achieve the positive effects of preventing deafness, guiding the rehabilitation of deaf children and evaluating the prognosis of deafness.