Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic–clonic seizure
Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic–clonic seizure
复制标题
中国汉族全身强直阵挛性癫痫大家族SCN2B、SCN3B、SCN4B突变分析
DOI：
10.1007/s10072-010-0390-6
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发表时间：
2010
影响因子：
3.3
通讯作者：
Xue
中科院分区：
文献类型：
--
作者：
Yang Lu;Weihua Yu;Zhi;Zheng Xiao;Xiaoqin Kou;Xue
电压门控钠通道基因与特发性全身性癫痫相关本课题组在一个五代同堂的癫痫家系中发现了一个位于染色体11q22.1-23.3的新位点。选择位于11q22.1-23.3位点的SCN 2B、SCN 3B和SCN 4 B作为该家系的候选基因。在本研究中，基因组DNA提取在六个受影响的家庭成员。使用直接DNA序列分析法对SCN 2B、SCN 3B和SCN 4 B的所有外显子进行测序。结果表明，该家系成员中未发现SCN 2B、SCN 3B和SCN 4 B基因编码区的突变或多态性。因此，SCN 2B、SCN 3B和SCN 4 B不是该大家族的主要易感基因。
Voltage-gated sodium channel genes are associated with idiopathic generalized epilepsy. Our group preciously identified a suggestive new locus on chromosome 11q22.1–23.3 in a five-generational Chinese epileptic family with generalized tonic–clonic seizure. SCN2B, SCN3B and SCN4B, which located at 11q22.1–23.3 locus, were chosen as candidate genes for this family. In the present study, genomic DNA was extracted in six affected family members. All exons of SCN2B, SCN3B and SCN4B were sequenced using direct DNA sequence analysis. The results showed that no mutation or polymorphism of coding regions of SCN2B, SCN3B and SCN4B was detected in the tested family members. Therefore, SCN2B, SCN3B and SCN4B are not major susceptibility genes contributed to our large family.