T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population

被引:24
作者
Chen, YC
Lu, JJ
Zhang, YH
Pan, H
Wu, HS
Xu, KM
Liu, XY
Jiang, YW
Bao, XH
Zhou, J
Liu, W
Shi, GB
Shen, Y
Wu, XR
机构
[1] Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
[2] Natl Ctr Human Genome Res, Beijing 100176, Peoples R China
[3] Beijing Childrens Hosp, Beijing 100045, Peoples R China
[4] Capital Inst Pediat, Beijing 100020, Peoples R China
[5] Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China
基金
中国国家自然科学基金;
关键词
childhood absence epilepsy; mutation; single nucleotide polymorphisms; susceptibility gene; Chinese; T-type Ca2+ channel; alpha (1G);
D O I
10.1016/S0304-3940(03)00124-1
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
We investigated whether the T-type calcium channel gene alpha (IG) is associated with childhood absence epilepsy (CAE), a form of idiopathic generalized epilepsy. We carried out direct sequencing of exons 1-37 and the exon-intron boundaries of the alpha (1G) gene in 48 Han Chinese patients with CAE and 48 normal controls. We found no mutation in the exons of alpha (I G). However, we did identify six single nucleotide polymorphisms (SNPs). Using two of these as markers, we carried out a case-control study in 192 patients with CAE and 192 normal controls. The allele and genotype distributions of all the SNPs studied were not significantly different between cases and control groups, thus the alpha (1G) gene is not an important susceptibility gene for CAE, at least in the Chinese population. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.
引用
收藏
页码:29 / 32
页数:4
相关论文
共 17 条
[11]   PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing [J].
Nickerson, DA ;
Tobe, VO ;
Taylor, SL .
NUCLEIC ACIDS RESEARCH, 1997, 25 (14) :2745-2751
[12]   Intracellular recordings in thalamic neurones during spontaneous spike and wave discharges in rats with absence epilepsy [J].
Pinault, D ;
Leresche, N ;
Charpier, S ;
Deniau, JM ;
Marescaux, C ;
Vergnes, M ;
Crunelli, V .
JOURNAL OF PHYSIOLOGY-LONDON, 1998, 509 (02) :449-456
[13]   Activity of thalamic reticular neurons during spontaneous genetically determined spike and wave discharges [J].
Slaght, SNJ ;
Leresche, N ;
Deniau, JM ;
Crunelli, V ;
Charpier, SP .
JOURNAL OF NEUROSCIENCE, 2002, 22 (06) :2323-2334
[14]  
Talley EM, 1999, J NEUROSCI, V19, P1895
[15]   Low-voltage-activated calcium channel subunit expression in a genetic model of absence epilepsy in the rat [J].
Talley, EM ;
Solórzano, G ;
Depaulis, A ;
Perez-Reyes, E ;
Bayliss, DA .
MOLECULAR BRAIN RESEARCH, 2000, 75 (01) :159-165
[16]   SELECTIVE INCREASE IN T-TYPE CALCIUM CONDUCTANCE OF RETICULAR THALAMIC NEURONS IN A RAT MODEL OF ABSENCE EPILEPSY [J].
TSAKIRIDOU, E ;
BERTOLLINI, L ;
DECURTIS, M ;
AVANZINI, G ;
PAPE, HC .
JOURNAL OF NEUROSCIENCE, 1995, 15 (04) :3110-3117
[17]   Prognostic significance of failure of the initial antiepileptic drug in children with absence epilepsy [J].
Wirrell, E ;
Camfield, C ;
Camfield, P ;
Dooley, J .
EPILEPSIA, 2001, 42 (06) :760-763