Dependability search of human CLC-2 gene associated with idiopathic generalized tonic-clonic seizures in Jinuo people and Han people from Yunnan province
- VernacularTitle:云南基诺族及汉族特发性全面强直-阵挛性癫痫与CLCN2基因的相关性
- Author:
Li-Jun LIANG
;
Lv-Hua CHANG
;
Hui REN
;
Zhi-Peng YU
;
Bing SU
;
- Publication Type:Journal Article
- Keywords:
Epilepsy,tonic-clonic;
Chloride channels;
Polymorphism,single nucleotide;
Case-control studies
- From:
Chinese Journal of Neurology
2005;0(11):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate whether the vohage-gated chloride channel CLC-2 gene— CLCN2 is associated with idiopathic generalized tonie-clonic seizures(often called a grand mal seizure, GME)of Jinuo people and Han people from Yunnan province.Methods Three regions,including Intron 2, Exon 5 and Exon 19(Intron 18),of CLCN2 were selected to conduct sequence analysis.The case-control study design was used to detect association between gene polymorphism and idiopathic generalized tonic- clonic seizures of Jinuo people and Han people from Yunnan province.Results No previously reported susceptible mutations were found in Intron 2,Exon 5 and Exon 19 in Jinuo people and Han people from Yunnan province.However we found a single nucleotide polymorphism(SNP)at site 146 of Intron 18. Case-control study were carried out,using this SNP.Distribution of the 3 genotypes(TT,TC,CC)has a significant difference between the IGTCS patients of Han people and the normal controls of Han people(9, 3,29 cases and 22,9,26,respectively,x~2=16.079,P
