SCN2B、SCN3B 和 SCN4B 基因突变分析在一个汉族全面性强直阵挛发作大家系中的应用。
Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic-clonic seizure.
机构信息
Department of Geriatrics, The First Affiliated Hospital, Chongqing Medical University, Chongqing, 400016, China.
出版信息
Neurol Sci. 2010 Oct;31(5):675-7. doi: 10.1007/s10072-010-0390-6. Epub 2010 Aug 21.
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.
电压门控钠离子通道基因与特发性全面性癫痫有关。我们的研究小组曾在一个有全身性强直阵挛发作的五代中国癫痫家系中发现 11q22.1-23.3 染色体上的一个新的候选基因位点。SCN2B、SCN3B 和 SCN4B 位于 11q22.1-23.3 基因座，被选为该家系的候选基因。在本研究中，提取了 6 名受影响的家族成员的基因组 DNA。使用直接 DNA 序列分析对 SCN2B、SCN3B 和 SCN4B 的所有外显子进行测序。结果显示，在所检测的家族成员中未发现 SCN2B、SCN3B 和 SCN4B 的编码区突变或多态性。因此，SCN2B、SCN3B 和 SCN4B 不是导致我们这个大家系发病的主要易感基因。
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