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The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population

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机构: [1]Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China; [2]Natl Ctr Human Genome Res Beijing, Beijing 100176, Peoples R China; [3]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [4]Capital Inst Pediat, Beijing 100020, Peoples R China; [5]Peking Union Med Coll, Chinese Acad Med Sci, 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
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关键词: childhood absence epilepsy single nucleotide polymorphisms haplotype case-control study susceptibility gene Chinese

摘要:
Childhood absence epilepsy (CAE) is considered to be a genetic disease, but the genes responsible for it have not yet been identified. To investigate whether or not the GABBR1 gene is a susceptibility gene for CAE in the Chinese Han population, we systematically screened all the 22 exons and nearby intron regions of the gene and found 12 single nucleotide, polymorphisms (SNPs). Using four SNPs as markers, we conducted a case-control study in 96 CAE patients and 96 normal controls. There were no significant discrepancies between the cases and controls in allele and phenotype frequencies of the four SNPs. There were still no significant differences in haplotype distributions between the cases and controls. We postulate that the GABBR1 gene might not be a susceptibility gene for CAE at least in the Chinese population. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.

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大类 | 4 区 医学
小类 | 4 区 神经科学
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Q2 NEUROSCIENCES
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Q4 NEUROSCIENCES

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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, Beijing 100176, Peoples R China; [3]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [4]Capital Inst Pediat, Beijing 100020, Peoples R China; [5]Peking Union Med Coll, Chinese Acad Med Sci, 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, Beijing 100176, Peoples R China; [3]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [4]Capital Inst Pediat, Beijing 100020, Peoples R China; [5]Peking Union Med Coll, Chinese Acad Med Sci, 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
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