FitzPatrick D, Farrall M
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, U.K.
J Craniofac Genet Dev Biol. 1993 Oct-Dec;13(4):230-5.
The existence of a major gene (or genes) that contributes significantly to the familial clustering of cleft lip with or without cleft palate (CL(P)) has been suggested by genetic epidemiology studies and supported by patient-control genotype association studies with a candidate gene. Here we present an analysis of the familial recurrence risk data for isolated cleft palate (CP) and show that an oligogenic model with six genes of equal effect fits the data best. The discrimination between alternative models is, however, poor and a major locus that explains half of the familial recurrence is plausible. The prospects for identification of susceptibility loci for CP are discussed.
遗传流行病学研究表明，存在一个（或多个）对唇裂伴或不伴腭裂（CL(P)）家族聚集现象有显著影响的主基因，并且候选基因的病例对照基因型关联研究也支持这一观点。在此，我们对孤立性腭裂（CP）的家族复发风险数据数据进行进行了分析，结果表明，一个由六个具有同等效应的基因组成的寡基因模型最符合数据。然而，不同模型之间的区分度较差，一个能够解释一半家族复发情况的主基因座是合理的。本文还讨论了识别CP易感基因座的前景。
