一个癫痫高发家系的遗传学研究  

GENETIC STUDY OF A HIGH DENSITY FAMILY WITH EPILEPSY

作　　者：张钺[1] 张子钦[1] 贾夫军[1] 辛瑞民[1] 李志平[1] 李冲[1] 卢龙斗[2] 胡建广 张世良 金清波 庞广昌 常重杰[2] 

机构地区：[1]河南省精神病医院 [2]河南师范大学生物系

出　　处：《中华医学遗传学杂志》1992年第4期206-208,共3页Chinese Journal of Medical Genetics

摘　　要：对一个癫痫高发家系(5代62人,23个患者)进行遗传学研究。系谱分析表明家系为常染色体显性遗传;该家系11名成员的脑电图检查结果提示癫痫阈值降低;5例强直-阵挛发作患者的姊妹染色单体互换频率显著增高;15例癫痫患者较10例表型正常者的血清β-酯酶平均活性相对增高。A high density family with epilepsy (23 patients out of 46 people in five generations) was studied. The pedigree analysis revealed a hereditary mode of autosomal dominant inheritance, and the electroencephalograms of 11 family members showed a decreased threshold of presenting abnormal waves, The karyotype analysis of five patients with grand mal epilepsy disclosed that the frequency of sister chromatid exchange was higher than that of controls. The average activities of serum β-esterase of the epileptics (n=15) were higher than those of other family members with normal phenotype (n=10).

关 键 词：癫痫 遗传学 染色体 脑电描记术 

分 类 号：R742.103[医药卫生—神经病学与精神病学]