Ritsner M S
Genetika. 1989 Feb;25(2):372-80.
Using multifactorial and monolocus models interrelations of a number of constitutional factors of probands (sex, child convulsive reactions, character abnormalities, age at the time of illness onset) with genetic factors of epilepsy occurrence among relatives (365 families) and populations from 5 regions of the Khabarovsk krai (2.88 patients per 1000 subjects) were studied. The dependence of epilepsy manifestation probability in mutant homo- and heterozygotes on sex, convulsive reactions and age characteristics of the proband body reactivity was shown. The notions of double threshold determination of convulsive readiness (the T1 threshold "cuts" a part of population with non-paroxysmal abnormality of the brain bioelectric activity, while the T2 threshold "cuts" that with convulsive reactions) were substantiated, the presence of this causing epilepsy development in individuals with a mutant allele of the major dominant gene. The hypothesis of the ecogenetic interaction of epilepsy main etiologic factors (major gene, environmental factors and constitutional readiness) has been described.
利用多因素和单基因座模型，研究了先证者的一些体质因素（性别、儿童惊厥反应、性格异常、发病时年龄）与哈巴罗夫斯克边疆区5个地区亲属（365个家庭）和人群中癫痫发生的遗传因素之间的相互关系（每1000名受试者中有2.88名患者）。结果表明，突变纯合子和杂合子中癫痫表现概率取决于先证者身体反应性的性别、惊厥反应和年龄特征。证实了惊厥易感性双重阈值测定的概念（T1阈值“划分”出脑生物电活动无发作性异常的一部分人群，而T2阈值“划分”出有惊厥反应的人群），这在具有主要显性基因突变等位基因的个体中导致癫痫发展。描述了癫痫主要病因因素（主要基因、环境因素和体质易感性）的生态遗传相互作用假说。
