Genotypic structure |
One disease-susceptibility locus on one chromosome. There are one wild-type (N) allele and k − 1 disease (S) alleles. |
Multiple (L) disease susceptibility loci on different chromosomes, with the same maximum number of allelic states (k). |
Selection model |
Fitness of an individual follows either an additive or a recessive model. Fitness of an individual with genotype NN, NS, or SS is 1, 1 − s/2, 1 − s for an additive model and 1, 1, 1 − s for a recessive model. |
Each DSL follows either an additive or a recessive fitness model as in the case of the single-locus model. The overall fitness of an individual with fitness gi, i = 1,…, L at each DSL follows either a multiplicative () or an additive () multilocus model. |
Mutation model |
k-allele (Jukes and Cantor 1969) model with k > 105 to approximate the infinite allele model. Given mutation rate μ, an allele will mutate to any other state with equal probability , regardless of its current allelic state. |
k-allele model with smaller k (e.g., k = 200) to be closer to a bidirectional mutation model ( and ). The mutation rate may vary from locus to locus. |
Recombination |
NA |
NA because all DSL are physically unlinked. |
Demographic |
Instant, linear, or exponential population growth model. N0 = 104, N1 = 106 or 107. |
Constant population size at N = 104 or 105. |
Population structure |
Population may be split into equally sized subpopulations (m = 10 or 100) before population expansion. During population expansion, these subpopulations may evolve with or without migration. |
NA |
Migration |
Cyclic stepping-stone model at rate 10−3. |
NA |
Penetrance |
Indirectly modeled, see explanation in the text. |
Indirectly modeled, see explanation in the text. |