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目的:探讨SLC26A5基因IVS2-2A>G突变与中国汉族非综合征型感音神经性聋的相关性。方法:收集南京市聋校非综合征型感音神经性聋患者120例及同地区听力正常人100例外周血样本,常规方法提取DNA,聚合酶链反应(PCR)扩增SLC26A5IVS2-2区域,对PCR产物直接测序进行突变性质的鉴定。结果:所有研究对象的基因区域均扩增成功,序列分析在120名散发聋患者及100例听力正常人中均未检测到SLC26A5基因IVS2-2位点任何形式的碱基变异。结论:SLC26A5IVS2-2A>G在中国汉族非综合征耳聋及听力正常人群中携带率较低或无突变,其与遗传聋的相关性需进一步研究评价。
Objective: To investigate the relationship between SLC26A5 gene IVS2-2A> G mutation and non-syndromic sensorineural hearing loss in Han Chinese. Methods: Totally 120 peripheral blood samples from non-syndromic sensorineural hearing-impaired children in deaf school of Nanjing City were collected and 100 cases of hearing-impaired persons in the same area were collected. The DNA was extracted by routine methods and SLC26A5IVS2-2 region was amplified by polymerase chain reaction (PCR) Direct sequencing of PCR products was used to characterize the mutation. Results: The gene regions of all the subjects were successfully amplified. Sequence analysis showed no any polymorphism in the SLC26A5 gene IVS2-2 locus in 120 patients with deafness and 100 normal hearing persons. CONCLUSION: SLC26A5IVS2-2A> G has low or no mutation in non-syndromic deafness and normal hearing people of Han nationality in China. The correlation between SLC26A5IVS2-2A> G and genetic deafness needs further study and evaluation.