Limits of the general two‐allele single locus model with incomplete penetrance

Abstract

A graphical method is presented that derives the mathematical limits of the general 1 locus 2 allele genetic model for any [human] trait whose population prevalence is known. While the model is quite flexible in its ability to fit family data, there remains a large area where the model does not fit. Specific sub-regions corresponding to particular hypotheses (e.g., underdominant vs. intermediate vs. overdominant) can be found, thereby limiting the area that needs to be searched by other more complicated techniques. Moreover, knowledge of where a set of observations lies permits the framing and testing of specific subhypotheses.