Casein kinase I gamma 2 isoform (CSNK1G2), a member of the large casein kinase I (CKI) family, may affect the development of brain, and associate with vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Based on our previous linkage analysis data that mapped our simple febrile seizures (FS) families to 19p13.3 and the function of CSNK1G2 in this region, CSNK1G2 was chosen as a candidate gene for FS. All of the 13 exons and their flanking introns of the CSNK1G2 gene were amplified and sequenced, and 10 single nucleotide polymorphisms (SNPs) were found. Using the three SNPs we found as markers, we conducted association studies in 60 FS patients and 101 normal controls. Allele and genotype frequencies of the SNPs IVS2-33C > T and 837C > T as well as the haplotype of the two SNPs were significantly different between FS patients and controls (P < 0.05). This study suggests that CSNK1G2 gene may be a susceptibility gene for FS in the northern Chinese Han population. (C) 2004 Elsevier Ireland Ltd. All rights reserved.
基金：
This research was supported by the National Natural Science Foundation (Grant no. 30170993) and the Special Fund for Promotion of Education, Ministry of Education PR China (Grant no. 2000-A).
第一作者机构：[1]Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China;[2]Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China;[3]Beijing Childrens Hosp, Beijing 100045, Peoples R China;[4]Hebei Med Univ, Hebei Canc Inst, Mol Biol Lab, Shijiazhuang, Peoples R China;[5]Hebei Med Univ, Hebei Canc Inst, Lab Epidemiol, Shijiazhuang, Peoples R China;[6]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
通讯作者：
通讯机构：[1]Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China;[2]Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China;[3]Beijing Childrens Hosp, Beijing 100045, Peoples R China;[4]Hebei Med Univ, Hebei Canc Inst, Mol Biol Lab, Shijiazhuang, Peoples R China;[5]Hebei Med Univ, Hebei Canc Inst, Lab Epidemiol, Shijiazhuang, Peoples R China;[6]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
推荐引用方式(GB/T 7714)：
Ma YN,Qi Y,Chen ZY,et al.Polymorphisms of casein kinase I gamma 2 gene associated with simple febrile seizures in Chinese Han population[J].NEUROSCIENCE LETTERS.2004,368(1):2-6.doi:10.1016/j.neulet.2004.06.054.
APA：
Ma, YN,Qi, Y,Chen, ZY,Lu, JJ,Hao, L...&Wu, XR.(2004).Polymorphisms of casein kinase I gamma 2 gene associated with simple febrile seizures in Chinese Han population.NEUROSCIENCE LETTERS,368,(1)
MLA：
Ma, YN,et al."Polymorphisms of casein kinase I gamma 2 gene associated with simple febrile seizures in Chinese Han population".NEUROSCIENCE LETTERS 368..1(2004):2-6
