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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
Lu, JJ; Zhang, YH; Pan, H; Chen, YC; Liu, XY; Jiang, YW; Bao, XH; Yan, S; Wu, HS; Xu, KM; Wu, XR
关键词childhood absence epilepsy microsatellite DNA case-control study transmission/disequilibrium test
刊名CHINESE MEDICAL JOURNAL
2004-10-01
117期:10页:1497-1501
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
研究领域[WOS]General & Internal Medicine
关键词[WOS]GABA(A) ; MECHANISMS ; RECEPTORS
英文摘要

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.

语种英语
WOS记录号WOS:000224787500011
引用统计
被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58205
专题北京大学第一临床医学院_儿科
作者单位1.Natl Ctr Human Genome Res, Beijing 100176, Peoples R China
2.Beijing Childrens Hosp, Beijing 100045, Peoples R China
3.Capital Inst Pediat, Beijing 100020, Peoples R China
4.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, 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
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GB/T 7714
Lu, JJ,Zhang, YH,Pan, H,et al. Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy[J]. CHINESE MEDICAL JOURNAL,2004,117(10):1497-1501.
APA Lu, JJ.,Zhang, YH.,Pan, H.,Chen, YC.,Liu, XY.,...&Wu, XR.(2004).Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy.CHINESE MEDICAL JOURNAL,117(10),1497-1501.
MLA Lu, JJ,et al."Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy".CHINESE MEDICAL JOURNAL 117.10(2004):1497-1501.
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