The frequency spectrum of a mutation, and its age, in a general diffusion model

Theor Popul Biol. 2003 Sep;64(2):241-51. doi: 10.1016/s0040-5809(03)00075-3.


General formulae are derived for the probability density and expected age of a mutation of frequency x in a population, and similarly for a mutation with b copies in a sample of n genes. A general formula is derived for the frequency spectrum of a mutation in a sample. Variable population size models are included. Results are derived in two frameworks: diffusion process models for the frequency of the mutation; and birth and death process models. The coalescent structure within the mutant gene group and the non-mutant group is considered.

MeSH terms

  • Alleles
  • Birth Rate
  • Gene Frequency*
  • Genetics, Population*
  • Mathematics
  • Models, Genetic*
  • Mortality
  • Mutation / genetics*
  • Mutation / physiology
  • Population Density*
  • Probability
  • Reproduction