| WFS1基因在低频听力减退家系中的突变筛查 |
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| 引用本文： | 刘穹,王荣光,李庆忠,赵立东,李丽娜,王秋菊. WFS1基因在低频听力减退家系中的突变筛查[J]. 解放军医学杂志, 2005, 30(7): 582-584 |
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| 作者姓名： | 刘穹 王荣光 李庆忠 赵立东 李丽娜 王秋菊 |
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| 作者单位： | 100853,北京,解放军总医院耳鼻咽喉科 |
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| 基金项目： | 国家自然科学基金面上项目(编号30370782)，北京市重大科技项目(编号H020220020610)资助课题 |
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| 摘 要： | 目的 分析低频感音神经性听力减退(LFSNHL)家系的候选基因——WFS1基因的突变。方法 对WFS1基因的全部编码序列设计14对引物，进行PCR扩增反应。应用PCR产物直接测序的方法对LFSNHL。家系中的38名成员进行突变检测及鉴定。结果 WFS1基因的14对引物均有较好的扩增效果，直接测序结果与标准序列比对分析显示所有家系成员在WFS1基因中均未检测到可以引起蛋白质改变的突变。结论 本研究中的LFSNHL中国家系的致病基因并非WFS1基因突变所致。
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| 关 键 词： | 听觉丧失，感音神经性 低频听力减退 基因，WFS1 突变 |
| 修稿时间： | 2004-10-10 |
Detection of WFS1 gene mutations in the Chinese pedigree with low frequency sensorineural hearing loss |
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| Liu Qiong,Wang Rongguang,Li Qingzhong et al. Detection of WFS1 gene mutations in the Chinese pedigree with low frequency sensorineural hearing loss[J]. Medical Journal of Chinese People's Liberation Army, 2005, 30(7): 582-584 |
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| Authors: | Liu Qiong Wang Rongguang Li Qingzhong et al |
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| Affiliation: | Liu Qiong,Wang Rongguang,Li Qingzhong et al. Institute of Otolaryngology,General Hospital of PLA,Beijing 100853,China |
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| Abstract: | Objective To analyze the mutations of candidate WFS1 gene in the Chinese pedigree with Low frequency sensorineural hearing loss. Methods PCR were performed with fourteen pairs of primers in the coding sequence of WFS1 gene. The PCR products were subsequently sequenced in the 38 individuals of LFSNHL family for screening the gene mutations. Results The PCR amplification fragments showed well quality in the five pairs of primer, and further analysis with frequencing showed no polymorphism and mutations in the members. Conclusion The present study rule out the possibility that the deafness gene WFS1, which locates on the 4p16, lead up to the hearing loss of LFSNHL pedigree. |
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| Keywords: | hearing loss sensorineural low frequency sensorineural hearing loss genes WFS1 mutation |
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