| 一中国正常血钾周期性麻痹家系中的SCN4A基因的T704M突变 |
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| 引用本文： | 任翔,卜碧涛,姚淇,邱昕,刘静宇,王擎,刘木根.一中国正常血钾周期性麻痹家系中的SCN4A基因的T704M突变[J].遗传,2006,28(8):923-926. |
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| 作者姓名： | 任翔 卜碧涛 姚淇 邱昕 刘静宇 王擎 刘木根 |
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| 作者单位： | 1.华中科技大学生命科学与技术学院，人类基因组研究中心,武汉 430074；2.华中科技大学同济医学院附属同济医院神经科，武汉430030 |
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| 基金项目： | 国家科技攻关项目，国家科技攻关项目，国家高技术研究发展计划(863计划) |
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| 摘 要： | 家族性周期性麻痹(periodic paralysis，PP)是以反复发作骨骼肌迟缓性瘫痪为特征的一组疾病。我们对一个来自湖北省的正常血钾周期性麻痹家系进行致病基因突变检测。应用微卫星标记对该家系进行连锁分析，证实致病基因可能同SCN4A连锁。对SCN4A基因全部外显子测序，发现患者在一个致病突变热点存在碱基替换C2188T。该突变导致编码氨基酸改变Thr704Met，经单链构象多态性分析证明该突变只存在于该家系患者，不存在于家系中健康人和100名无亲缘关系对照中，Thr704Met是该家系的致病突变。
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| 关 键 词： | 连锁分析 测序 突变 正常血钾周期性麻痹 |
| 文章编号： | 0253-9772(2006)08-0923-04 |
| 收稿时间： | 2005-10-27 |
| 修稿时间： | 2005年10月27 |
Mutation Thr704Met in SCN4A cause normoKPP in a Chinese family |
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| REN Xiang,BU Bi-Tao,YAO Qi,QIU Xin,LIU Jing-Yu,WANG Qing,LIU Mu-Gen.Mutation Thr704Met in SCN4A cause normoKPP in a Chinese family[J].Hereditas,2006,28(8):923-926. |
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| Authors: | REN Xiang BU Bi-Tao YAO Qi QIU Xin LIU Jing-Yu WANG Qing LIU Mu-Gen |
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| Institution: | 1. Human Genome Research center, Life College of Science and Technology, Huazhong University of science and Technology, Hubei Wuhan 430074, China; 2. Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030,China |
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| Abstract: | Familial periodic paralysis(PP) is an autosomal dominant disorder characterized by episodic attacks of paralysis with different severity.We recruited a normoKPP family in Hubei China and evaluated genetic variations responsible for the disease.Linkage analysis was performed through microsatellite markers.Markers flanking SCN4A showed linkage evidence in the family. Sequencing of SCN4A exons revealed a substitution C2111T leading to the mutation Thr704Met in all affected family members,and was not observed in either unaffected members of the family or 100 unrelated individuals(controls).This mutation should be responsible for normoKPP in this family. |
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| Keywords: | normoKPP mutation linkage analysis sequencing |
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