[Association analysis of childhood absence epilepsy by microsatellite DNA].
OBJECTIVE
To investigate whether or not the gamma-aminobutyric acid  GABA   receptor subtype Alpha genes  GABRA5 and GABRB3 are associated with childhood absence epilepsy  CAE  .


METHODS
Five microsatellite DNA  69CA  85CA  155CA1  155CA2 and A55CA1  adjacent to chromosome 15q11-15q13 were used as genetic markers. Fluorescence-based semi-automated genotyping technique was used in 90 CAE patients and 100 normal controls to conduct genotyping. Case-control study was used to do association analysis.


RESULTS
In Chinese normal population the allele frequencies of the five microsatellite DNAs were in good agreement with Hardy- Weinberg equilibrium. The polymorphism information content   PIC  of the five microsatellite DNA were 0.47  0.82  0.66  0.86, and 0.86 respectively. The frequencies of some alleles of the 5 microsatellite DNAs in CAE patients were significantly higher than those in normal controls.


CONCLUSIONS
Four of the five microsatellite DNAs are good genetic markers. GABA subtype Alpha genes  GABRA5 and GABRB3 may be associated with the pathogenic mechanism of CAE.
Department of Pediatrics  The First Hospital  Peking University, Beijing 100034, China.
Jianjun
J
Lu
Yucai
Y
Chen
Hong
H
Pan
Yuehua
Y
Zhang
Yuehua
Y
Jiang
Weinan
W
Di
Yan
Y
Shen
Keming
K
Xu
Husheng
H
Wu
Xiru
X
Wu
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004832:Epilepsy, Absence / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D011963:Receptors, GABA-A / Q000235:genetics*
D011963:Receptors, GABA-A