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中国先天性副肌强直一家系致病基因初步研究 被引量：2

Preliminary study of causative gene for a Chinese family paramyotonia congenital
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摘要 目的对收集的中国先天性副肌强直(PC)一家系致病基因进行初步筛查。方法采用测序的方法对中国PC家系的患者和正常人的SCN4A基因24个外显子测序,分析比较中国PC家系的患者和正常人与正常人群的差异。结果未发现该中国PC家系在SCN4A基因24个外显子存在致病突变。结论该中国PC家系的发病与SCN4A基因无关。 Objective To study the causative gene in a Chinese family paramyotonia congenital （FPC）. Methods DNA sequencing analysis for exons of alpha subunit type Ⅳ of voltage-gated sodium channel （SCN4A） was conducted between affected and normal individuals of the Chinese FPC and other normal people,each other. Results Unexpectly,no causative mutation for the Chinese FPC was found in SCN4A. Conclusion the Chinese FPC has no relationship with SCN4A.
作者 桑道乾 谈昕煜 陈静 时鹏 许文芳 陈齐鸣 胡松年
机构地区 蚌埠医学院第一附属医院神经内科 中国科学院北京基因组研究所
出处 《中国实用医药》 2013年第20期8-10,共3页 China Practical Medicine
关键词 致病基因 肌强直 先天性 家系 中国 SCN4A基因 正常人群 初步筛查
分类号 R746 [医药卫生—神经病学与精神病学]
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参考文献13

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同被引文献17

  • 1杨华艳,陈宜张.骨骼肌-神经系统离子通道病[J].基础医学与临床,2005,25(11):992-998. 被引量：4
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中国实用医药
2013年 第20期

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