Demenais F, Elston R C, Bonaiti C, Briard M L, Kaplan E B, Namboodiri K K
Am J Hum Genet. 1981 Mar;33(2):300-6.
To determine the mode of inheritance of congenital glaucoma, segregation analysis was performed using two different models: the transmission probability model and the mixed model. Whereas the latter, testing for monogenic inheritance in the presence of both monogenic and polygenic components, results in strong evidence for a major locus, the former, testing for Mendelian segregation at one locus, rejects this hypothesis. The differences in the results of these two models are discussed and are attributed to the underlying structure of each. Genetic heterogeneity of congenital glucoma is proposed.
为了确定先天性青光眼的遗传模式,使用两种不同模型进行了分离分析:传递概率模型和混合模型。后者在存在单基因和多基因成分的情况下检测单基因遗传,结果有力支持了一个主要基因座;而前者检测一个基因座的孟德尔分离情况,却拒绝了这一假设。文中讨论了这两种模型结果的差异,并将其归因于各自的潜在结构。文中提出了先天性青光眼的遗传异质性。