Screening SCN4A gene for mutations in a Chinese family with hyperkalemic periodic paralysis
- VernacularTitle:家族性高钾型周期性麻痹的SCN4A基因突变
- Author:
Xiuhai GUO
;
Weiping WU
;
Suju DING
;
Yanhua ZHANG
;
Ke ZHU
;
- Publication Type:Journal Article
- Keywords:
Paralysis,hyperkalemic periodic;
Chromatography,liquid;
Sodium channels;
Mutation;
Linkage (genetics)
- From:
Chinese Journal of Neurology
2000;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical features of hyperkalemic periodic paralysis (hyperKPP) and the relationship with SCN4A gene in a Chinese family Methods The clinical features of 7 patients in a Chinese family with hyperKPP were summarized All 24 exons of SCN4A gene were screened with denaturing high performance liquid chromatography (DHPLC) technology, and then sequence analysis was performed on those with abnormal elution peak Results This family showed typical clinical features of hyperKPP but without myotonia Three mutations were found in exon 13, 23 and 24 respectively Linkage analysis and direct sequencing showed the mutation in exon 24 was a synonymous mutation The mutation in exon 23 was a missense mutation, but proved to be a benign polimophism; the mutation in exon 13 was proved leading to the best known amino acid exchange Thr704Met Conclusion SCN4A gene should be related to hyperKPP, and Thr704Met be responsible for hyperKPP in this Chinese family
