[Case-control study and transmission/disequilibrium test of childhood absence epilepsy].
OBJECTIVE
To investigate whether or not the gamma-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).


CONCLUSIONS
Both 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.
Lu
Jianjun
J
Paediatric Department  the First Hospital of Peking University, Beijing, 100034 P. R. China. jianjunlv@263.net
Chen
Yucai
Y
Zhang
Yuehua
Y
Pan
Hong
H
Liu
Xiaoyan
X
Jiang
Yuwu
Y
Du
Weinan
W
Shen
Yan
Y
Xu
Keming
K
Wu
Husheng
H
Wu
Xiru
X
D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D004247:DNA / Q000235:genetics; D004832:Epilepsy, Absence / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D011963:Receptors, GABA-A / Q000235:genetics*; D018080:Receptors, GABA-B / Q000235:genetics*
D011963:Receptors, GABA-A; D018080:Receptors, GABA-B; D004247:DNA