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Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy

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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 100176, Peoples R China; [3]Peking Union Med Coll, Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China; [4]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [5]Capital Inst Pediat, Beijing 100020, Peoples R China
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关键词: childhood absence epilepsy microsatellite DNA case-control study transmission/disequilibrium test

摘要:
Background Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). CAE is considered to be a genetic disease, with a possible polygenic inheritance pattern. The genes responsible for CAE have not been identified yet. The object of this study was to investigate whether or not CAE is associated with the gene encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits alpha5 (GABRA5) and beta3 (GABRB3) in a Chinese population. Methods Five microsatellite DNA repeats, 69CA, 85CA, 155CA1, 155CA2, and A55CA1, adjoining chromosome 15q11-q13, were used as genetic markers. Both case-control study and transmission/disequilibrium tests (TDTs), as well as fluorescence-based semi-automated genotyping techniques, were used in 90 CAE patient-mother-father trios and 100 normal controls of Han ethnicity to conduct association analysis. Results The frequencies of allele 5 of 69CA, alleles 2 and 8 of 85CA, alleles 6 and 7 of 155CA1, allele 2 of 155CA2, and alleles 1 and 11 of A55CA1 were significantly higher in CAE patients than in normal controls. To prevent spurious associations arising from population admixture, we further conducted TDT tests in the 90 CAE trios. The results of TDT analysis further suggested that microsatellite DNA repeats 85CA, 155CA1, and 155CA2 were associated with CAE. Conclusions GABA type-A receptor subunit genes GABRA5 and GABRB3 may be either directly involved in the etiology of CAE in the Chinese population or in linkage disequilibrium with disease-predisposing sites.

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大类 | 3 区 医学
小类 | 3 区 医学:内科
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出版当年[2002]版:
Q4 MEDICINE, GENERAL & INTERNAL
最新[2023]版:
Q1 MEDICINE, GENERAL & INTERNAL

影响因子: 最新[2023版] 最新五年平均 出版当年[2002版] 出版当年五年平均 出版前一年[2001版] 出版后一年[2003版]

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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 100176, Peoples R China; [3]Peking Union Med Coll, Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China; [4]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [5]Capital Inst Pediat, Beijing 100020, 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]Peking Union Med Coll, Chinese Acad Med Sci, Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R China; [4]Beijing Childrens Hosp, Beijing 100045, Peoples R China; [5]Capital Inst Pediat, Beijing 100020, Peoples R China
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