Seuchter S A, Hebebrand J, Klug B, Knapp M, Lehmkuhl G, Poustka F, Schmidt M, Remschmidt H, Baur M P
Institute of Medical Statistics, University of Bonn, Bonn, Germany.
Genet Epidemiol. 2000 Jan;18(1):33-47. doi: 10.1002/(SICI)1098-2272(200001)18:1<33::AID-GEPI3>3.0.CO;2-2.
Although family and twin studies suggest that genetic factors are involved in the etiology of Tourette syndrome and other related tic disorders, further evidence is needed to demonstrate that the familial transmission is consistent with known genetic factors. We performed a complex segregation analysis that allowed for a variable age of onset of Gilles de la Tourette, other tic disorders and obsessive compulsive phenotype information on 108 extended families, each ascertained through one Tourette proband by using regressive models that are able to incorporate additional explanatory variables and major gene effects. A special version of the S.A.G.E. program, REGTLhunt, was used to explore the likelihood surface of all examined models. Results indicated that the pattern of Tourette and other related tic disorders in our data sample is not consistent with Mendelian inheritance even after modelling explanatory variables such as obsessive compulsive symptomatology.
尽管家族研究和双生子研究表明,遗传因素参与了抽动秽语综合征及其他相关抽动障碍的病因,但仍需进一步证据来证明家族遗传与已知遗传因素相符。我们进行了一项复杂的分离分析,该分析纳入了108个大家庭中抽动秽语综合征、其他抽动障碍及强迫表型信息的可变发病年龄,每个大家庭均通过一名抽动秽语综合征先证者确定,使用能够纳入额外解释变量和主基因效应的回归模型。我们使用了S.A.G.E.程序的一个特殊版本REGTLhunt来探索所有检验模型的似然面。结果表明,即使在对诸如强迫症状等解释变量进行建模之后,我们数据样本中抽动秽语综合征及其他相关抽动障碍的模式仍不符合孟德尔遗传。