Hardy-Weinberg & Genetic Drift
Introduction to Evolution of Populations
Key Questions:
Ability to calculate allele frequencies from genotype frequencies and vice versa.
Interpretation of results from comparisons of observed frequencies with Hardy-Weinberg equilibrium.
Definition and explanation of genetic drift.
Effects of genetic drift on genetic diversity in small populations.
Identifying Evolution
How to Determine If a Population is Evolving:
Use the Hardy-Weinberg principle to understand that allele and genotype frequencies remain constant if only Mendelian segregation and recombination occur.
Understanding that when genetic recombination is random, the population can be said to be in Hardy-Weinberg equilibrium.
Conditions for Hardy-Weinberg Equilibrium
Population in HW Equilibrium is not evolving; must meet specific conditions:
No mutation occurs.
Random mating is observed.
No natural selection is present.
No gene flow enters or exits the population.
The population must be very large to minimize random fluctuations.
Understanding Proportions of Alleles
Pricing in Alleles:
Each allele in a population has a specific proportion; a fixed allele has a proportion of 100%.
In a simple two-allele system, p represents the frequency of one allele, while q represents the frequency of the other.
Assuming random gamete combination, the Hardy-Weinberg Equilibrium allows for calculations of homozygote and heterozygote frequencies.
Calculating Frequencies of Genotypes
Genotype Frequencies:
Frequency of homozygotes: p² (for one allele) and q² (for another), frequency of heterozygotes: 2pq.
The frequencies of homozygotes and heterozygotes must always sum to 1 (or 100%).
If observed frequencies of genotypes do not match expected frequencies under Hardy-Weinberg Equilibrium, the population is evolving.
Chi-square tests help to determine the deviation from expected frequencies.
Example of Allele Frequencies in Plants
Scenario:
A plant has two alleles for flower color (focusing on dominant "R" for red and recessive "W" for white).
If, in a given population 70% are "R", then 30% are "W". Thus, p = 0.70 and q = 0.30.
Analyzing Next Generation Genotypes
Next Generation Analysis:
Example with 40 red, 8 pink, and 2 white flowers to assess if evolution is occurring.
Understanding that pink flowers are heterozygous resulting from incomplete dominance between red and white alleles.
Heterozygosity in Incomplete Dominance
Incomplete Dominance:
Pink flowers (intermediate phenotype) result from heterozygous genotypes (RW).
Frequency Analysis of Genotypes
Actual Frequencies:
Calculate frequencies: F(RR) = 40/50 = 0.80; F(WW) = 2/50 = 0.04; F(RW) = 8/50 = 0.16.
Compare to equilibrium frequencies (expected) of 0.49, 0.09, and 0.42.
If real frequencies are significantly different, it indicates that the population is evolving.
The Hardy-Weinberg equation indicates changes but does not specify which condition is violated.
Factors Influencing Evolution
Factors Impacting Evolutionary Processes:
Mutations, though rare, can have large impacts when adaptations enhance survival and reproductive success.
Non-random mating changes phenotype and genotype frequencies but not significantly allele frequencies.
Major influences include:
Natural selection
Genetic drift (notably in small populations)
Gene flow.
Understanding Genetic Drift
Genetic Drift Defined:
Describes random fluctuations in allele frequencies.
In large populations, these fluctuations tend to balance out, whereas in small populations significant effects can be deleterious.
Types of Genetic Drift
Founder Effect:
Occurs when a new population is established by a very small number of individuals.
Example: The Amish population in Pennsylvania that exhibits a specific genetic syndrome due to founder effects.
Bottleneck Effect
Bottleneck:
Occurs when a population undergoes a drastic size reduction for at least one generation.
Example: Northern elephant seals and cheetahs faced severe population declines due to environmental events, losing allele diversity.
Inbreeding and Its Effects
Consequences of Inbreeding:
Inbreeding is mating between relatives, increasing the expression of deleterious recessive alleles (inbreeding depression).
Results in decreased fecundity, increased mortality, and above all, increased disease susceptibility.
Example: Woolly mammoths on Wrangel Island suffered from a "genomic meltdown" due to loss of genetic variation, impacting vital genes for reproduction.
Long-Term Impacts of Genetic Drift
Recovery and Genetic Variation:
Population size can bounce back quickly post-bottleneck or founder events, but regaining genetic variation is slow.
Changes in allele frequencies are random; over time can build up due to mutations.
Low genetic variation limits populations' ability to adapt to environmental changes and may lead to the fixation of harmful alleles.