Genes for epilepsy mapped in the mouse.
Genes for epilepsy mapped in the mouse.
复制标题
小鼠癫痫基因图谱。
DOI：
10.1126/science.1871601
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
Seyfried,TN
中科院分区：
文献类型：
--
作者：
Rise,ML;Frankel,WN;Coffin,JM;Seyfried,TN
神经突变小鼠El系是人类复杂部分性癫痫发作的模型。采用El与DBA/2J和ABP/LeJ两种抗癫痫菌株回交的方法，研究了7种常规染色体标记和60多种内源性前病毒标记对癫痫发作的遗传作用。负责这种癫痫表型的主要基因（El-1）定位于9号染色体上着丝粒的远端区域。至少还有一个与2号染色体上的前病毒标记相关的基因El-2也会影响癫痫的表型。此外，在DBA/2J背景中检测到癫痫发作的潜在修饰因子。el -1在远端9号染色体上的位置可能允许在与人类3号染色体的保守共序列的基础上鉴定人类癫痫候选基因。
The neurological mutant mouse strain El is a model for complex partial seizures in humans. The inheritance of epileptic seizures with seven conventional chromosomal markers and over 60 endogenous proviral markers was studied by means of backcrosses of El with two seizure-resistant strains, DBA/2J and ABP/LeJ. The major gene responsible for this epileptic phenotype (El-1) was localized to a region distal with respect to the centromere on chromosome 9. At least one other gene,El-2, linked to proviral markers on chromosome 2, also influences the seizure phenotype. In addition, a potential modifier of seizures was detected in the DBA/2J background. The location ofEl-1on distal chromosome 9 may allow identification of an epilepsy candidate gene in humans on the basis of conserved synteny with human chromosome 3.