1. Measuring Evolution of Populations

2. 5 Agents of evolutionary change
Mutation
Gene Flow
Non-random mating
Genetic Drift
Selection

3. Populations & gene pools
Concepts
a population is a localized group of interbreeding individuals
gene pool is collection of alleles in the population
remember difference between alleles & genes!
allele frequency is how common is that allele in the population
how many A vs. a in whole population

4. Evolution of populations
Evolution = change in allele frequencies in a population
hypothetical: what conditions would cause allele frequencies to not change?
non-evolving population
REMOVE all agents of evolutionary change
very large population size (no genetic drift)
no migration (no gene flow in or out)
no mutation (no genetic change)
random mating (no sexual selection)
no natural selection (everyone is equally fit)

5. Hardy-Weinberg equilibrium
Hypothetical, non-evolving population
preserves allele frequencies
Serves as a model (null hypothesis)
natural populations rarely in H-W equilibrium
useful model to measure if forces are acting on a population
measuring evolutionary change
G.H. Hardy (the English mathematician) and W. Weinberg (the German physician) independently worked out the mathematical basis of population genetics in Their formula predicts the expected genotype frequencies using the allele frequencies in a diploid Mendelian population. They were concerned with questions like "what happens to the frequencies of alleles in a population over time?" and "would you expect to see alleles disappear or become more frequent over time?"
G.H. Hardy
mathematician
W. Weinberg
physician

6. Hardy-Weinberg theorem
Counting Alleles
assume 2 alleles = B, b
frequency of dominant allele (B) = p
frequency of recessive allele (b) = q
frequencies must add to 1 (100%), so:
p + q = 1 BB Bb bb

7. Hardy-Weinberg theorem
Counting Individuals
frequency of homozygous dominant: p x p = p2
frequency of homozygous recessive: q x q = q2
frequency of heterozygotes: (p x q) + (q x p) = 2pq
frequencies of all individuals must add to 1 (100%), so:
p2 + 2pq + q2 = 1 BB Bb bb

8. H-W formulas Alleles: p + q = 1 Individuals: p2 + 2pq + q2 = 1 B b BB

9. Using Hardy-Weinberg equation
population: 100 cats
84 black, 16 white
How many of each genotype?
q2 (bb): 16/100 = .16
q (b): √.16 = 0.4
p (B): = 0.6
p2=.36
2pq=.48
q2=.16 BB Bb bb
Must assume population is in H-W equilibrium!
What are the genotype frequencies?

10. Using Hardy-Weinberg equation
p2=.36
2pq=.48
q2=.16
Assuming H-W equilibrium BB Bb bb
Null hypothesis
p2=.20
p2=.74
2pq=.10
2pq=.64
q2=.16
q2=.16
Sampled data 1:
Hybrids are in some way weaker.
Immigration in from an external population that is predomiantly homozygous B
Non-random mating... white cats tend to mate with white cats and black cats tend to mate with black cats.
Sampled data 2:
Heterozygote advantage.
What’s preventing this population from being in equilibrium. bb Bb BB
Sampled data
How do you explain the data?
How do you explain the data?

11. Application of H-W principle
Sickle cell anemia
inherit a mutation in gene coding for hemoglobin
oxygen-carrying blood protein
recessive allele = HsHs
normal allele = Hb
low oxygen levels causes RBC to sickle
breakdown of RBC
clogging small blood vessels
damage to organs
often lethal

12. Sickle cell frequency High frequency of heterozygotes
1 in 5 in Central Africans = HbHs
unusual for allele with severe detrimental effects in homozygotes
1 in 100 = HsHs
usually die before reproductive age
Sickle Cell:
In tropical Africa, where malaria is common, the sickle-cell allele is both an advantage & disadvantage. Reduces infection by malaria parasite.
Cystic fibrosis:
Cystic fibrosis carriers are thought to be more resistant to cholera:
1:25, or 4% of Caucasians are carriers Cc
Why is the Hs allele maintained at such high levels in African populations?
Suggests some selective advantage of being heterozygous…

13. Malaria
Single-celled eukaryote parasite (Plasmodium) spends part of its life cycle in red blood cells 1 2 3

14. Heterozygote Advantage
In tropical Africa, where malaria is common:
homozygous dominant (normal)
die or reduced reproduction from malaria: HbHb
homozygous recessive
die or reduced reproduction from sickle cell anemia: HsHs
heterozygote carriers are relatively free of both: HbHs
survive & reproduce more, more common in population
Hypothesis:
In malaria-infected cells, the O2 level is lowered enough to cause sickling which kills the cell & destroys the parasite.
Frequency of sickle cell allele & distribution of malaria

15. Practice Question
A population called the “founder generation”, consisting of 2000 AA individuals, 2000 Aa individuals, and 6000 aa individuals is established on a remote island. Mating within this population occurs at random, the three genotypes are selectively neutral, and mutations occur at a negligible rate.
What are the frequencies of the alleles A and a in the founder generation?
Is the founder generation at Hardy-Weinberg Equilibrium?
What is the frequency of the A allele in the second generation (that is, the generation subsequent to the founder generation)?
What are the frequencies of the AA, Aa, and aa genotypes in the second generation?

17. your work and label each frequency, probability, and allele.
For each of the following problems in population genetics use the Hardy-Weinberg equation. Show all of
your work and label each frequency, probability, and allele.
1. Suppose that in a breeding experiment, 7,000 AA individuals and 3,000 aa individuals mate at random. In the first generation of offspring, what would be the frequencies of the three genotypes (AA, Aa, and aa)? What would be the frequencies of the two alleles? What would be the values in the second generation?

18. 2. Among African-Americans, the frequency of sickle-cell anemia (which, as you will recall is a homozygous recessive condition) is about What is the frequency of heterozygotes? When on African-American marries another, what is the probability that both will be heterozygotes? If both are heterozygotes, what is the probability that their first child will have sickle-cell anemia?

19. 3. If q = 0.3 and there are Hardy-Weinberg proportions, what is the most common genotype and what is its frequency? What is the least frequent genotype and its frequency?

20. 4. In a large, randomly mating population with no forces acting to change gene frequencies, the frequency of homozygous recessive individuals for the character extra-long eyelashes is 90 per 1000, or What percentage of the population carries this trait but displays the dominant phenotype, short eyelashes? Would the frequency of the extra-long-lash allele increase, decrease, or remain the same if long-lashed individuals preferentially mated with each other and no one else?

21. Any Questions??