Association analysis of childhood absence epilepsy by microsatellite DNA

To investigate whether or not the gamma-aminobutyric acid GABA receptor subtype Alpha genes GABRA5 and GABRB3 are associated with childhood absence epilepsy CAE . 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. 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. 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.