儿童失神癫痫〖WTBX〗〖STBX〗CACNA1H〖STBZ〗基因突变筛查和分析

目的：明确T型钙通道CACNA1H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CACNA1H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核心家系中存明显的传递不平衡（χ²＝9.783，P=0.001 76）。结论:CACNA1H基因可能是中国汉族CAE 的重要易感基因。

Screening and analysis on variants in CACAN1H gene in childhood absence epilepsy

Objective To identify the relationship between the CACNA1H gene and childhood absence epilepsy(CAE).Methods Exons 6 to 12 of CACNA1H gene were sequenced in 100 CAE trios of Han population in China.Variants in these regions were then analyzed.Results Fourteen variants were identified only in 32 CAE patients that were not present in 191 normal gender-matched controls.Twelve of them had not been previously reported.These 14 variants included 2 nonsynonymous variants,3 synonymous variants,9 intronic variants,including a single nucleotide polymorphism(SNP) 52037C>T in intron11 found in 17 CAE patients.The result of transmission disequilibrium test(TDT) indicated that 52037C>T in intron11 was in significant transmission disequilibrium in CAE trios(χ2=9.783,P=0.001 76).Conclusion CACNA1H is a susceptibility gene for CAE in the Chinese Han population.