文章摘要
刘丽君,魏钦俊,陈智斌,鲁雅洁,曹 新,邢光前.中国汉族非综合征耳聋患者SLC26A5 IVS2-2A>G的突变[J].南京医科大学学报,2009,29(5):640~642
中国汉族非综合征耳聋患者SLC26A5 IVS2-2A>G的突变
Mutational analysis of SLC26A5 IVS2-2A>G in Chinese Han patients with non-syndromic hearing loss
投稿时间:2009-01-13  
DOI:10.7655
中文关键词: 非综合征耳聋  SLC26A5基因  突变
英文关键词: non-syndromic hearing loss  SLC26A5 gene  mutation
基金项目:江苏省“科教兴卫工程”医学重点人才基金(RC2007064)
作者单位
刘丽君 南京医科大学第一附属医院耳鼻咽喉科,江苏 南京 210029 
魏钦俊 南京医科大学生物技术系,江苏 南京 210029 
陈智斌 南京医科大学第一附属医院耳鼻咽喉科,江苏 南京 210029 
鲁雅洁 南京医科大学生物技术系,江苏 南京 210029 
曹 新 南京医科大学生物技术系,江苏 南京 210029 
邢光前 南京医科大学第一附属医院耳鼻咽喉科,江苏 南京 210029 
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中文摘要:
      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SLC26A5 IVS2-2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:SLC26A5 IVS2-2A > 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?
英文摘要:
      Objective:To explore the relationship between non-syndromic hearing loss and SLC26A5 IVS2-2A > G transition in Chinese Han populations. Methods:Genomic DNA from 120 hearing impaired and 100 normal hearing control subjects were isolated and amplified using primers corresponding to IVS2-2 region of SLC26A5 gene. Each fragment was purified and subsequently analyzed by direct sequencing in an Applied Biosystems 3730 automated DNA sequencer. The resultant sequence data were compared with the standard sequence to identify IVS2-2A > G substitution. Results:PCR amplifications were successfully conducted in all the subjects. The IVS2-2A > G variant was not found in a total 220 Chinese Han people with either impaired or normal hearing,by sequence analysis. Conclusion:The carrier frequency for the SLC26A5 IVS2-2A > G DNA sequence variation in Chinese Han populations is very low or naught. Further studies are needed to elucidate the correlation between this mutation and hereditary hearing impairment.
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