Peng Ching-Tien, Chou I-Ching, Li Chia-Ing, Hsu Yu-An, Tsai Chang-Hai, Tsai Fuu-Jen
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.
Pediatr Neurol. 2004 Mar;30(3):186-9. doi: 10.1016/j.pediatrneurol.2003.08.001.
The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is to establish whether the monogenic epilepsy gene also contributes to the common epilepsies. Because febrile seizures represent the majority of childhood seizures, and a genetic predisposition, we investigated the possibility that the nicotinic acetylcholine receptor beta 2 subunit might be involved in the etiology of febrile seizures. Children were divided into two groups: those with febrile seizures (group 1; n = 104) and control patients (group 2; n = 83). Polymerase chain reaction was used to identify the G/C and T/C polymorphisms of the nicotinic acetylcholine receptor beta 2 subunit gene, which is mapped on chromosome 1. Genotypes and allelic frequencies for nicotinic acetylcholine receptor beta 2 subunit gene polymorphisms in both groups were compared. The results indicated that genotypes and allelic frequencies in both groups were not significantly different. These data suggest that nicotinic acetylcholine receptor beta 2 subunit polymorphisms are not a useful marker for prediction of the susceptibility to febrile seizures.
烟碱型乙酰胆碱受体是配体门控离子通道超家族的成员，介导突触处的快速信号传递。神经元烟碱型乙酰胆碱受体β2亚基的突变与常染色体显性遗传性夜间额叶癫痫有关。一个主要挑战是确定单基因癫痫基因是否也与常见癫痫有关。由于热性惊厥占儿童惊厥的大多数，且存在遗传易感性，我们研究了烟碱型乙酰胆碱受体β2亚基可能参与热性惊厥病因的可能性。儿童被分为两组：热性惊厥组（第1组；n = 104）和对照组患者（第2组；n = 83）。采用聚合酶链反应来鉴定位于1号染色体上的烟碱型乙酰胆碱受体β2亚基基因的G/C和T/C多态性。比较两组中烟碱型乙酰胆碱受体β2亚基基因多态性的基因型和等位基因频率。结果表明两组的基因型和等位基因频率无显著差异。这些数据表明，烟碱型乙酰胆碱受体β2亚基多态性不是预测热性惊厥易感性的有用标志物。
