Ritsner M S, Drigalenko E I
Genetika. 1987 Feb;23(2):364-73.
The initial data for the analysis have resulted in epidemiologic (547 patients) and genetic-epidemiologic (365 patients) study of patients with diagnosis of epilepsy living in five districts of the Khabarovsk Territory. The population frequency of epilepsy was equal to 0.288%. With the use of data on numbers of sick and healthy first-third-degree relatives, and the method of maximum likelihood, the monolocus diallelic model (MDM) parameters of the family and population epilepsy prevalence were estimated. For each of 9 MDM variants two decisions were obtained, depending on the use of population probability of the feature. The analysis of 8 sets of initial data allowed to ascertain the influence of information about the first-third-degree relatives on parameter estimates. The calculation results are presented for one of initial data sets (set A). Three MDM variants were shown to predict the values of the relative affection probability, these being rather close to frequencies observed. The arguments are presented in favour of quasi-dominant variant with following parameters: frequency of mutant allele in a population - 5.28%, homozygote penetrance - 21.5% and that for heterozygote - 2.6%. According to parameter estimates within this model, the probability of offspring disease in the family with the known number of sick and healthy parents was calculated.
分析的初始数据促成了对哈巴罗夫斯克边疆区五个地区诊断为癫痫的患者进行的流行病学（547名患者）和遗传流行病学（365名患者）研究。癫痫的人群发病率为0.288%。利用患病和健康的一级至三级亲属数量数据以及最大似然法，估计了家族性和人群性癫痫患病率的单基因座双等位基因模型（MDM）参数。对于9种MDM变体中的每一种，根据特征的群体概率的使用情况得出了两种结果。对8组初始数据的分析确定了一级至三级亲属信息对参数估计的影响。给出了其中一组初始数据集（A组）的计算结果。三种MDM变体显示出能够预测相对患病概率的值，这些值与观察到的频率相当接近。提出了支持具有以下参数的准显性变体的论据：群体中突变等位基因的频率为5.28%，纯合子外显率为21.5%，杂合子外显率为2.6%。根据该模型中的参数估计，计算了已知患病和健康父母数量的家庭中后代患病的概率。
