Angular homeostasis: VI. Threshold processes with bivariate liabilities.
The general structure of the threshold model of multifactorial determination is discussed. It is supposed that in place of a single liability (in Falconer's sense) there are two separate liabilities; and whether or not the pathological trait is present depends on a non-additive interaction between the liabilities, so that the region has curved boundaries. The genetics of ontogeny of a process involving spatial orientation (e.g., cardiac ontogeny) is used as a substantive illustration. Genetic analysis of the trait (as contrasted with the liabilities) yields results that on the one hand may seem quite counterintuitive, yet on the other hand they correspond to the kind of bizarre patterns encountered in quasi-empirical genetic counseling for cleft palate or neural tube defect. The impact of refinement of phenotype made possible by non-invasive methods is sketched. This model can be generalized to any number of liabilities, independent or not.
Murphy
E A
EA
Division of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD.
Berger
K R
KR
Pyeritz
R E
RE
Sagawa
Y
Y
D005314:Embryonic and Fetal Development / Q000235:genetics*; D005260:Female; D006706:Homeostasis; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010641:Phenotype; D011336:Probability