Objective: To investigate the Association of child absence epilepsy with T-STAR gene.
Methods: PCR was conducted on the DNA of peripheral blood white cells from 48 children with child absence epilepsy (CAE), 47 male and 49 female, aged 2.9 approximately 14, of Han nationality in Northern China and 48 healthy children in the same area to amplify the exons of T-STAR gene The PCR products underwent sequencing to identify the possible mutations.
Results: No mutation was found in the exons of the T-STAR gene, however, 3 single nucleotide polymorphisms (SNPs) were found. A case-control study was carried out, using SNP1 and SNP2. There was no significant difference in genotype frequency of the 2 SNPs between the CAE group and control group (SNA1: chi(2) = 2.965, df = 1, P = 0.085; SNP2: chi(2) = 2.965, df = 1, P = 0.085). There was no significant difference in allele frequency of the 2 SNPs between the CAE group and control group too (SNA1: chi(2) = 3.185, df = 2, P = 0.203; SNP2: chi(2) = 3.185, df = 2, P = 0.203).
Conclusion: T-STAR may not be a susceptibility gene for CAE in Chinese populations.