摘要
目的 研究 γ-氨基丁酸 A型受体亚单位基因 GABRA5及 GABRB3是否与儿童失神癫痫相关联。方法 以染色体 15 q11.2 - q12区段内 2个微卫星 DNA GABRA5和 GABRB3作为遗传标记 ,对 90例失神癫痫患儿及其父母以及 10 0名正常对照采用微卫星荧光标记半自动基因分型技术 ,应用病例 -对照研究及传递不平衡检验进行关联分析。结果 微卫星 DNA GABRA5和 GABRB3在中国正常人群等位基因分布均符合 Hardy- Weinberg平衡 ,多态信息含量分别为 0 .80和 0 .6 6 ,微卫星 DNA GABRA5的等位基因 2及 GABRB3等位基因 5在病例组的频率显著高于对照组 (P<0 .0 0 1)。结论 微卫星 DNA GABRA5和 GABRB3均是多态性较好的遗传标记 ,γ-氨基丁酸 A型受体亚单位基因 GABRA5及 GABRB3可能是儿童失神癫痫的易感基因或与之存在连锁不平衡。
Objective To investigate whether or not the γ-aminobutyric acid (GABA) receptor subtype A genes--GABRA5 and GABRB3 are associated with childhood absence epilepsy (CAE). Methods Two microsatellite DNA,GABRA5 and GABRB3, adjoining to chromosome 15q11.2-q12 were used as genetic markers. Both case-control study and transmission/disequilibrium test (TDT) as well as fluorescence-based semi-automated genotyping technique were used in 90 trios with CAE and 100 controls to conduct association analysis. Results The allele frequencies of the 2 microsatellite DNA in Chinese normal population are in good agreement with Hardy-Weinberg equilibrium. The polymorphism information content of microsatellite DNA GABRA5 and GABRB3, are 0.80 and 0.66 respectively. The allele 2 frequency of microsatellite DNA GABRA5 and the allele 5 frequency of microsatellite DNA GABRB3 are significantly higher in CAE patients than those in normal controls( P <0.001). Conclusion Both microsatellite DNA GABRA5 and GABRB3 are good genetic markers. The γ-aminobutyric acid receptor subtype A genes--GABRA5 and GABRB3 may be directly involved either in the etiology of CAE or in linkage disequilibrium with disease-predisposing sites.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2002年第3期183-186,共4页
Chinese Journal of Medical Genetics
基金
北京市自然科学基金重点项目 (70 0 1 0 0 3)
北京大学人类疾病基因研究中心项目 (2 0 0 0 - A- 8)~~
关键词
儿童
失神癫痫
微卫星DNA
病例-对照研究
传递不平衡检验
childhood absence epilepsy
microsatellite DNA
case-control study
transmission/disequilibrium test
