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学科主题: 临床医学
题名:
Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy
作者: 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
发表日期: 2004-10-01
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58205
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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