SCN4A基因V781Ⅰ突变与原发性低钾型周期性麻痹  

Correlation between SCN4A V781I mutation and hypokalemic periodic paralysis

作　　者：柯青[1] 罗本燕[2] 吴卫平[1] 

机构地区：[1]解放军总医院神经内科,北京100853 [2]浙江大学医学院附属第一医院神经内科

出　　处：《中华神经科杂志》2007年第9期595-599,共5页Chinese Journal of Neurology

基　　金：国家自然科学基金(30370495)

摘　　要：目的明确 SCN4A 基因 V781I 突变是否为我国原发性低钾型周期性麻痹的相关突变。方法利用 PCR-直接测序技术和酶切技术对1个低钾型周期性麻痹家系(3例患者和14名健康亲属)、71例散发性低钾型周期性麻痹患者以及100名健康人进行了 SCN4A 基因 V781I 突变的筛查。结果低钾型周期性麻痹家系中所有患者均存在此突变,且有4名健康亲属携带此突变(1名男性,3名女性)。71例散发性低钾型周期性麻痹患者中有7例存在此突变,100名健康人中也有7例存在此突变,该两组间 V781I 突变频率差异无统计学意义(X^2=0.452,P=0.502)。结论 SCN4A 基因V781I 突变在低钾型周期性麻痹患者与健康人中的突变频率差异无统计学意义,此突变可能是正常基因多态性。Objective To identify the correlativity between SCN4A V781I mutation and hypokalemic periodic paralysis （HOKPP）. Methods The SCN4A V781I mutation was screened on the members of a hypokalemic periodic paralysis family （including 3 patients and 14 healthy relatives）, 71 sporadical hypokalemic periodic paralysis patients and 100 healthy adults with the PCR sequencing and the incision enzyme techniques, Results The mutation existed not only in all the patients but also in 4 healthy relatives, including 1 male and 3 females, in the hypokalemic periodic paralysis family. Seven of 71 sporadical hypokalemic periodic paralysis patients and 7 of 100 health adults indicated the SCN4A V781I mutation. There was no significant difference in the SCN4A V781I mutation rate between the hypokalemic periodic paralysis patients and the healthy adults （X^2 = 0. 452, P = 0. 502 ）. Conclusions SCN4A V781I mutation maybe is an innocent pelymorphism. There is little correlativity between SCN4A V781I and hypokalemic periodic paralysis.

关 键 词：低钾性周期性麻痹 钠通道 突变 

分 类 号：R746[医药卫生—神经病学与精神病学]