Childhood absence epilepsy (CAE) is considered to be a genetic disease, the genes responsible for which have not yet been identified. To investigate whether or not GABA(A) receptor gamma 2 subunit gene (GABRG2) is the susceptibility gene for CAE in the Chinese population, we screened 68 CAE patients of Han ethnicity from North China for mutations in the nine exons of GABRG2. Although we found no mutation in the exons of GABRG2, we did identify two single nucleotide polymorphisms (SNPs) in exon 3 and exon 5. Using the two SNPs as markers, we carried out a transmission/disequilibrium test (TDT) in 68 trios with CAE. TDT results showed that there were no significant discrepancies between the CAE patients and 'internal controls' in allele frequencies of the two SNPs. We postulate that the GABRG2 gene might be neither a susceptibility gene for CAE nor in linkage disequilibrium with disease-predisposing sites in the Chinese population. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.
基金：
The authors wish to thank Professor Antonio V. Delgado-Escueta for valuable discussions. This research was supported by the Beijing Natural Science Foundation (Grant No. 7001003), the Peking University Human Disease Gene Research Center Foundation (Grant No. 2000-A-8), and the Beijing Municipal Commission for Science & Technology (Grant No. H010210230119).
第一作者机构：[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;[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]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;[6]Peking Univ, Hosp 1, Dept Pediat, 8 Xishiku St, Beijing 100034, Peoples R China
推荐引用方式(GB/T 7714)：
Lu JJ,Chen YC,Zhang YH,et al.Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy[J].NEUROSCIENCE LETTERS.2002,332(2):75-78.doi:10.1016/S0304-3940(02)00805-4.
APA：
Lu, JJ,Chen, YC,Zhang, YH,Pan, H,Wu, HS...&Wu, XR.(2002).Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy.NEUROSCIENCE LETTERS,332,(2)
MLA：
Lu, JJ,et al."Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy".NEUROSCIENCE LETTERS 332..2(2002):75-78
