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.
Conclusion: 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.