Isolation of Epilepsy-Associated Genes from El mice

分离到两个与癫痫相关的基因，其中一个编码S同型半胱氨酸水解酶(S)。该基因来源于出生后1天的EL小鼠肝脏Poly A^+RNA的cDNA文库。含有上述基因的克隆pELD1在A组(ddy，BALB/c，C3H/He)和B组(EL，C57BL/6N，DBA/1J)之间的基因组DNA上显示了Pst I-RFLP。后者包括癫痫易感品系。这意味着S-ADO Hcy-Hlase基因与癫痫的发生有关。另一个经氨基酸序列测定证实为NADP特异性异柠檬酸脱氢酶基因，其编码的45 kDa脑突触体蛋白出现在2D-SDS-PAGE中，显示出EL和Ddy小鼠的0.2等电点差异。基因的详细结构目前正在调查中。

Two genes associated with epilepsy of El mice were isolated, one of which encodes S-Adenosylhomocysteine hydrolase (S-AdoHocysHlase). It was derived from cDNA library of liver poly A^+ RNAs of 1 day postnatal El mice. A clone named pELD1 which contains the above gene, revealed Pst I-RFLP on the genomic DNAs between group A (ddY,BALB/c, C3H/He) and group B (El, C57BL/6N,DBA/1J). The latter group includes epileptic seizure predisposed strains. This means that S-AdoHocysHlase gene is associated with the epileptogenesis. Another one was identified by amino acid sequencing to be NADP specific isocitrate dehydrogenase gene, which encodes a 45kDa brain synaptosomal protein appeared in 2D-SDS-PAGE,giving 0.2isoelectric point difference between El and ddY mice. The structure of genes in detail are now under investigation.