[Dynamics of the haplotype frequencies in populations: study using the Monte Carlo method]

Area of Science:

• Population Genetics
• Evolutionary Dynamics
• Computational Biology

Context:

• Investigating the evolutionary trajectories of genetic markers within populations is crucial for understanding population history and adaptation.
• Haplotype frequencies are key indicators of evolutionary processes, reflecting the combined effects of drift, selection, and migration.
• The HOXB gene cluster (17q) provides a valuable model for studying human population genetics due to its known variation.

Purpose:

• To develop and apply a simulation program that models key evolutionary forces (genetic drift, mating, recombination, selection, mutation).
• To analyze the impact of these evolutionary processes on haplotype frequency dynamics in silico.
• To test a hypothesis regarding effective population size in human populations since colonization using simulation data.

Summary:

• A novel simulation program was created to model random genetic drift, random mating, recombination, natural selection, and mutation.
• The program tracks frequencies at nine sites with up to 15 alleles each, demonstrating its application with HOXB haplotypes (17q).
• Simulation results validated the hypothesis that effective population size has exceeded 1000 since New World colonization, assuming no recurrent mutations, population mixing, or selection.

Impact:

• Provides a versatile computational tool for evolutionary genetics research.
• Offers empirical support for hypotheses concerning historical effective population sizes in humans.
• Enhances understanding of how evolutionary forces shape genetic variation within and between populations.