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).
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1992年第4期206-208,共3页
Chinese Journal of Medical Genetics
关键词
癫痫
遗传学
染色体
脑电描记术
Epilepsy Genetics Chromosome Electroencephalography Esterases
