Baron M, Shapiro E, Shapiro A, Rainer J D
Am J Hum Genet. 1981 Sep;33(5):767-75.
Data on Gilles de la Tourette syndrome are analyzed by multiple threshold models in inheritance that incorporate sex effect. The polygenic-multifactorial model is rejected. Single major locus inheritance can account for the data, although many of the occurrences of Tourette are due to nongenetic phenocopies. In both models, males and females share a common genetic environmental liability, but the less prevalent sex, that is, females, has a higher genetic loading for the disorder. The predicted population prevalences in the single major locus model are 2.3% for males and 0.8% for females. The implications for genetic and biological research in Tourette syndrome are discussed.
运用纳入性别效应的多种阈值模型对抽动秽语综合征的数据进行分析。多基因-多因素模型被否定。单一位点遗传能够解释这些数据，尽管许多抽动秽语综合征的病例是由非遗传表型模拟所致。在这两种模型中，男性和女性具有共同的遗传环境易感性，但发病率较低的性别，即女性，对此疾病具有更高的遗传负荷。在单一位点模型中，预测的人群患病率男性为2.3%，女性为0.8%。文中还讨论了对抽动秽语综合征遗传和生物学研究的启示。
