Murphy E A
Johns Hopkins Med J. 1981 Mar;148(3):114-22.
The scope of quantitation in genetics ranges from traits that are defined by quantity to those that can be quantitated not at all, or only with difficulty and on artificial scales of specious interpretability. Since disease is a complex process, there is a serious risk that a projection of it on an arbitrary system of measurements may be insensitive or frankly misleading. A hypothetical but plausible example (the "brittle model") of a purely genetic trait (but one with zero heritability) is presented. In addition an illustration is given that competition in pathways to an endpoint (such as death) may lead to a counterintuitive reversal of the positive skewness in the component processes (the "bingo model"). These paradoxical results reflect the perils of inadequate descriptors and an irrational reliance on stock methods of looking at the inheritance of disease. Well-known studies by Brown and Goldstein, Knudson, Paigen. Armitage and Doll, and Moolgavkar are cited as examples of how medical geneticists might rationally approach the genetics of common and complicated diseases.
遗传学中的定量范围涵盖从由数量定义的性状到那些根本无法定量、或只能困难地定量且基于似是而非的可解释性人为尺度的性状。由于疾病是一个复杂的过程，将其投射到任意测量系统上存在严重风险，即可能不敏感或明显具有误导性。本文给出了一个纯遗传性状（但遗传度为零）的假设但合理的例子（“脆性模型”）。此外，还给出了一个说明，即通往某个终点（如死亡）的途径中的竞争可能导致组成过程中正偏态的反直觉反转（“宾果模型”）。这些矛盾的结果反映了描述不充分的危险以及对观察疾病遗传的常规方法的不合理依赖。布朗和戈尔茨坦、克努森、派根、阿米蒂奇和多尔以及穆尔加夫卡尔的著名研究被引为例证，说明医学遗传学家如何合理地研究常见复杂疾病的遗传学。
