Simulating Heterozygous Advantage A simulation to demonstrate how selection influences evolution over time. Background Hardy Weinberg Conditions for Genetic Equilibrium 1. Large population 4. No selection 2. No migration 5. Random mating 3. No mutations Hardy Weinberg Mathematical Equations 1. p + q = 1 2. p2 + 2pq + q2 = 1 Background Blood, Genes and Malaria by Jared Diamond ü Theme/Main Idea: • Alleles that offer a selective disadvantage in certain environmental conditions can offer a selective advantage in others. • Populations in which allele frequencies change over time experience evolution due to natural selection (or genetic drift). • The prevalence of the sickle cell allele in regions where malaria is high is a real world example of a heterozygous advantage . 1 Blood, Genes and Malaria by Jared Diamond Sickle Cell Anemia • • Description: Disorder of the red blood cells, which originated due to a single genetic mutation. Symptoms: Red blood cells takes on a sickle shape. ü Homozygotes (aa): experience blocked circulation, organ degeneration, increased bacterial infections. Death often occurs in individuals before the age of 20. ü Heterozygotes (Aa): experience mild or no symptoms of sickle cell anemia. ü Homozygotes (AA): experience no symptoms of sickle cell anemia. Blood, Genes and Malaria by Jared Diamond Sickle Cell Anemia and Malaria • Malaria is a potentially fatal disease caused by a parasite transmitted by mosquitoes. • Malaria occurs in over 100 countries and territories including Africa. • Sickle Cell Heterozygotes (Aa) offer resistance to Malaria. • Malaria turns normal red blood cells into sickle-shaped cells, these cells are destroyed by the body preventing malaria from spreading. Blood, Genes and Malaria by Jared Diamond Sickle Cell Anemia and Natural Selection • Where malaria is common, the recessive allele (q) is maintained in the population because heterozygotes (Aa) for sickle cell anemia have a selective advantage (like Africa). • Where malaria is not common (like North America), the recessive allele (q) will become less common in the population because heterozygotes (Aa) for sickle cell anemia do not have a selective advantage. 2 Blood, Genes and Malaria by Jared Diamond Sickle Cell Anemia and Hardy-Weinberg 1. Large population Condition is met 2. No migration Condition is violated 3. No mutations Condition is violated 4. No selection Condition is violated 5. Random mating Condition is violated Blood, Genes and Malaria by Jared Diamond Conclusions: • The sickle cell allele is the best known genetic defense against malaria. It protects against one disease, while causing another (sickle-cell anemia). • Natural Selection operates differently in different environmental conditions, causing allele frequencies to change. • One or more Hardy-Weinberg conditions for genetic equilibrium are violated with respect to the sickle cell condition. Therefore, evolution is occurring. 3