Murphy E A, Berger K R, Trojak J E, Pyeritz R E
Division of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Am J Med Genet. 1987 Nov;28(3):703-17. doi: 10.1002/ajmg.1320280318.
We discuss the statistical and biological problems of adapting the theoretical bingo model to the analysis of empirical data. A distinction is made between an idealized pathogenetic model, which aims to represent the disease in as much authentic detail as the present state of knowledge allows and in components that have literal interpretation, and an empirical model, which deals with those effects of the pathogenetic model that one may hope to observe clinically. We review a variety of empirical models distinguishable by the amount of data available on intermediate degrees of damage short of total destruction. The relationship of damage to time is explored, and we consider the criteria and usefulness of linearization of this relationship where the diachronic ("longitudinal") data are few and extend over a comparatively short time. Every time a patient is examined, the degree of cumulative damage is assessed in each of the body systems of interest. Thus the examination will furnish a set of measurements, which is obtained on each of several examinations, taken over a period that for preference is long relative to the survival of the system. Specific disorders discussed include dentition and enlargement of the aorta with age in the Marfan syndrome.
我们讨论了将理论宾果模型应用于实证数据分析时的统计学和生物学问题。理想化的致病模型旨在根据当前知识水平，尽可能真实详细地呈现疾病及其具有字面意义的组成部分，而实证模型则处理致病模型中可能希望在临床上观察到的那些效应，我们对这两者进行了区分。我们回顾了各种实证模型，这些模型可根据在总破坏之前中间程度损伤的可用数据量来区分。探讨了损伤与时间的关系，并且在历时性（“纵向”）数据较少且覆盖时间相对较短的情况下，我们考虑了这种关系线性化的标准及其有用性。每次对患者进行检查时，都会在每个感兴趣的身体系统中评估累积损伤程度。因此，检查将提供一组测量值，这些测量值是在几次检查中的每次检查时获得的，检查时间跨度相对于系统的存活时间而言最好较长。所讨论的具体病症包括马凡综合征中牙列和主动脉随年龄增长的增大。
