Case-control study and transmission/disequilibrium test of childhood absence epilepsy.
- Author:
Jianjun LU
1
;
Yucai CHEN
;
Yuehua ZHANG
;
Hong PAN
;
Xiaoyan LIU
;
Yuwu JIANG
;
Weinan DU
;
Yan SHEN
;
Keming XU
;
Husheng WU
;
Xiru WU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Alleles; Case-Control Studies; Child; DNA; genetics; Epilepsy, Absence; genetics; Female; Gene Frequency; Humans; Linkage Disequilibrium; Male; Microsatellite Repeats; Receptors, GABA-A; genetics; Receptors, GABA-B; genetics
- From: Chinese Journal of Medical Genetics 2002;19(3):183-186
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate whether or not the gamma-aminobutyric acid (GABA) receptor subtype A genes GABRA5 and GABRB3 are associated with childhood absence epilepsy (CAE).
METHODSTwo 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.
RESULTSThe 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).
CONCLUSIONBoth microsatellite DNA GABRA5 and GABRB3 are good genetic markers. The gamma-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.
