| 一个中国神经性肌强直家系致病基因初步研究简 |
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| 引用本文： | 伍文清,陈伟,李继梅,曾长青,易立,肖玉莲.一个中国神经性肌强直家系致病基因初步研究简[J].临床和实验医学杂志,2014(4):249-251. |
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| 作者姓名： | 伍文清 陈伟 李继梅 曾长青 易立 肖玉莲 |
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| 作者单位： | [1]首都医科大学附属北京友谊医院神经内科,北京100050 [2]中国科学院北京基因组研究所,北京100029 |
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| 基金项目： | 北京市自然科学基金资助项目（7112036） |
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| 摘 要： | 目的对一遗传性神经性肌强直家系2个已知致病基因进行初步筛查。方法应用外显子高通量测序分析方法对家系患者的KCNAl基因和KCNQ2基因进行DNA测序。结果基因检测未发现KCNAl基因和KCNQ2基因外显子突变。结论该神经性肌强直家系的发病与KCNAl基因和KCNQ2基因无关。
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| 关 键 词： | 遗传性神经性肌强直 外显子测序 家系 |
Preliminary study of causative gene for one Chinese family with inherited neuromyotonia. |
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| Institution: | WU Wen - qing , CHEN Wei, LI Ji - mei , et al. (1 Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China; 2 Beijing institute of C, enomics, Chinese Academy of Sciences, Beijing 100029, China.) |
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| Abstract: | Objective To study two candidate genes in one Chinese family with inherited neuromyotonia. Methods DNA sequencing a- nalysis for exons of KCNQ2 and KCNA1 genes was conducted in affected individuals of this Chinese family. Results No mutation was found in the extrons of KCNQ2 and KCNA1 genes. Conclusion The Chinese family with inherited neuromyotonia has no relationship with these two genes. |
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| Keywords: | Inherited neuromyotonia Exome sequencing Pedigree |
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