Sánchez J L, Jiménez I, Palacio L G, Jiménez M, Mora O, Zuluaga L, Uribe C S, Isaza R, Villa A, Blanco R, Arcos-Burgos M
Instituto Neurológico de Antioquia, Universidad de Antioquia, Medellin, Columbia.
Rev Neurol. 1998 May;26(153):739-44.
An experimental study about the predictions from the multifactorial threshold model created by Falconer is presented, assuming that this model may explain the genetic mechanisms underlying the family aggregation of idiopathic epilepsies.
We failed to confirm the following predictions from the falconer model: decreased prevalence of disease in relatives, proportional to decreased family links, and the order of birth effect. An heredity greater than 100% was calculated which is concordant with the presence of at least a locus with a major gen affect.
Our results reject the multifactorial threshold effect and suggest the presence of a major gen or Mendelian effect. An analysis of complex segregation is suggested for future studies.
本文呈现了一项关于Falconer创建的多因素阈值模型预测结果的实验研究，假定该模型可以解释特发性癫痫家族聚集现象背后的遗传机制。
我们未能证实Falconer模型的以下预测结果：亲属中疾病患病率降低与家族联系减少成正比，以及出生顺序效应。计算得出遗传率大于100%，这与至少存在一个具有主要基因效应的位点相符。
我们的结果否定了多因素阈值效应，并提示存在主要基因或孟德尔效应。建议未来研究进行复杂分离分析。
