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目的:明确T型钙通道CACNA1 H基因变异与儿童失神癫痫(CAE)的关系。方法:对100个中国汉族CAE核心家系CACNA1 H基因的外显子6~12及其相邻的部分内含子进行PCR产物测序、基因突变筛查和分析。结果:仅在32例CAE患儿中发现14个序列变异,包括2个错义突变、3个同义突变和9个内含子变异,其中12个为新发现的变异。在191例性别匹配的正常对照中未发现这些变异。位于第11内含子的单核苷酸多态性(SNPs)位点52037C>T在17例彼此无亲缘关系CAE患儿中出现,且在CAE核心家系中存在明显的传递不平衡(2χ=9.783,P=0.00176)。结论:CACNA1 H基因可能是中国汉族CAE的重要易感基因。
Objective: To determine the relationship between C-TAC-CACNA1 H gene mutation and childhood absence epilepsy (CAE). Methods: PCR products were sequenced and gene mutations were screened and analyzed in exon 6-12 and adjacent intron of CACNA1 H gene of 100 Chinese Han population with CAE core family. RESULTS: Fourteen sequence variants were found in 32 children with CAE, including two missense mutations, three synonymous mutations and nine intron variations, of which 12 were newly discovered. These mutations were not found in 191 sex matched normal controls. The SNP locus 52037C> T located in the 11th intron was found in 17 unrelated children with CAE and there was a significant transmission imbalance in the CAE nuclear family (2χ = 9.783, P = 0.00176). Conclusion: CACNA1 H gene may be an important susceptibility gene of Chinese Han CAE.