Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in

来源 :中华医学杂志(英文版) | 被引量 : 0次 | 上传用户:lovezx1990
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
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 α5 (GABRA5) and β3 (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.
其他文献
Background Cerebral ischemia is a significant clinical problem, and cerebral ischemia usually causes neuron injury such as apoptosis in various brain areas, in
目的 探索不同中医证型急性心肌梗死(AMI)日发病的时间节律.方法 对155例AMI患者进行问卷调查,并辨证分型,从中医时间医学的角度探究不同中医证型AMI的日发病节律.结果 155例
介绍了景德镇市发展农民专业合作社的现状,总结了其发展过程中存在的主要问题,提出了进一步发展农民专业合作社的对策.
为了解发光二极管(LED)补光对植物生长及光合特性的影响,选择萝卜Raphanus sativus 作为材料,将其栽种于2种LED灯补光和温室自然条件下30 d后测定其生长指标及光合特性.结果
目的 创新建立肺气肿合并睡眠诱导低氧大鼠模型并探讨凝血功能的变化.方法 纳入30只Wistar大鼠,按暴露条件分3组.每组10只.A组(单纯睡眠诱导低氧组).正常饲养28 d,第29天起在
概述了褐飞虱长、短翅型成虫的主要生态学和生物学特性.综述了影响褐飞虱翅型分化的生态因子,包括温度、湿度、光周期、若虫种群密度、虫龄、水稻生育期和植株营养,以及翅型
基因组变异是肿瘤细胞的一个重要特点,其参与肿瘤形成的生物学过程和通路。阵列比较基因组杂交技术能以高分辨率在全基因组范围内检测基因变异和DNA拷贝数改变,尤其能对特异
以立式氟化炉的内炉胆为研究对象,通过合理的简化,建立起氟化炉的数学模型,利用ANSYS WORKBENCH软件对氟化炉内的气体在制备稀土过程中氟化反应的流场进行了数值模拟.研究结
26-O-β-D-Glucopyranosyl-furost-5(6),20(22)-dien-3β,26-diol 1, a new furostanol saponin, was isolated from the water-extract of Dioscorea nipponica Mak., the r
A series of substituted (6-chloropyridine-3-yl)methyl heterocyclic thioether derivatives were prepared by indium mediating in water. The preliminary biological