Correlation between SCN4A V781I mutation and hypokalemic periodic paralysis
- VernacularTitle:SCN4A基因V781Ⅰ突变与原发性低钾型周期性麻痹
- Author:
Qing KE
;
Ben-Yan LUO
;
Wei-Ping WU
;
- Publication Type:Journal Article
- Keywords:
Hypokalemic periodic paralysis;
Sodium channels;
Mutation
- From:
Chinese Journal of Neurology
2005;0(09):-
- CountryChina
- Language:Chinese
-
Abstract:
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 sporadieal 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 polymorphism.There is little correlativity between SCN4A V781I and hypokalemic periodic paralysis.
