【摘要】 目的　研究T STAR基因是否为中国儿童失神癫痫的易感基因。方法　选择 4 8例北方汉族儿童失神癫痫病患儿和 4 8名来自同一地区正常人作为对照 ,对位于染色体 8q2 4区域的T STAR基因的外显子进行聚合酶链反应 (PCR)扩增 ,PCR产物纯化后进行测序以寻找可能的突变。结果　没有发现突变 ,找到 3个新的单核苷酸多态性 (SNP) ,选择其中 2个SNP作为遗传标记 ,病例 对照研究结果表明 ,各SNP的等位基因频率在病例组和对照组之间差异无显著意义 (SNP 1:χ2 =2 96 5 ,df=1,P =0 0 85 ;SNP 2 :χ2 =2 96 5 ,df=1,P =0 0 85 ) ;各SNP基因型频率在病例组和对照组之间差异无显著意义 (SNP 1:χ2 =3 185 ,df =2 ,P =0 2 0 3;SNP 2 :χ2 =3 185 ,df =2 ,P =0 2 0 3)。结论　T STAR基因可能不是儿童失神癫痫的易感基因。更多还原

【Abstract】 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 2.9～14, 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: χ 2=2.965, df=1, P =0.085; SNP2: χ 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: χ 2=3.185, df=2, P =0.203; SNP2: χ 2=3.185, df=2, P =0.203). Conclusion T-STAR may not be a susceptibility gene for CAE in Chinese populations.更多还原