青少年肌阵挛癫痫遗传学研究进展。
Advances in genetics of juvenile myoclonic epilepsies.
机构信息
David Geffen School of Medicine, University of California Los Angeles Comprehensive Epilepsy Program, VA Greater Los Angeles Healthcare System West Los Angeles, CA, USA.
出版信息
Epilepsy Curr. 2007 May-Jun;7(3):61-7. doi: 10.1111/j.1535-7511.2007.00171.x.
Abstract
One by one, mutation-containing mendelian genes that cause monogenic juvenile myoclonic epilepsies (JME) and single nucleotide polymorphisms (SNP)-susceptibility alleles that increase risks for nonmendelian complex JME should fall to the power of molecular genetics. Of 15 chromosome loci, 3 mendelian genes (alpha1-subunit of the GABA(A) receptor [GABRA1], chloride channel 2 gene [CLCN2], and Myoclonin1/EFHC1) and 2 SNP-susceptibility alleles of putative JME genes in epistases (bromodomain-containing protein 2 [BRD2] and connexin [Cx]-36) have been identified, so far. Antiepileptic drugs now can be designed against the specific molecular defects of JME.
摘要
一个接一个，引起单基因青少年肌阵挛性癫痫 (JME) 的突变孟德尔基因和增加非孟德尔复杂 JME 风险的单核苷酸多态性 (SNP)-易感等位基因应该被分子遗传学所攻克。在 15 个染色体位点中，已经确定了 3 个孟德尔基因（GABA(A)受体的 alpha1-亚基[GABRA1]、氯离子通道 2 基因[CLCN2]和肌阵挛蛋白 1/EFHC1）和 2 个假定的 JME 基因的 SNP-易感等位基因（溴结构域蛋白 2 [BRD2]和连接蛋白 [Cx]-36）处于上位性。到目前为止，已经可以针对 JME 的特定分子缺陷设计抗癫痫药物。
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