[An analysis of heterozygote fitness by the genes for autosomal-dominant diseases taking into account the parameters of penetrance and expressivity].
The general methodology of analysis of the fitness of different genotypes is given. It is based on the consideration of the total group of the heterozygotes' heterogeneity in the differential fertility, due to incomplete penetrance and age-specific expressivity of the gene. The approach makes it possible to determine specific contribution of the different subgroups to the general amount of the heterozygotes by means of differential functions of morbidity and mortality. The computation on the fitness is performed using the birth rate within these subgroups, in relation to the general population. The model is represented in two variants, continuous and discrete, each of them describing the general case and a number of particular cases.
Bazhenova
M D
MD
Al'tshuler
B A
BA
D000375:Aging / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics* / Q000401:mortality; D025063:Chromosome Disorders; D005786:Gene Expression Regulation; D005787:Gene Frequency; D005799:Genes, Dominant; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008433:Mathematics; D008957:Models, Genetic; D010641:Phenotype
Analiz prisposoblennosti geterozigot po genam autosomno-dominantnykh zabolevaniĭ s uchetom parametrov penetrantnosti i ékspressivnosti.