中国先天性副肌强直一家系致病基因初步研究  

Preliminary study of causative gene for a Chinese family paramyotonia congenital

作　　者：桑道乾[1] 谈昕煜[2] 陈静[1] 时鹏[1] 许文芳[1] 陈齐鸣[1] 胡松年[2] 

机构地区：[1]蚌埠医学院第一附属医院神经内科,233004 [2]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

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.

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]