Prerequisite Concepts
1. PopulationGenetics:
• Population: A group of individuals of the same species that interbreed.
• Gene Pool: The total collection of alleles in a population.
2. Allele Frequency: The proportion of a specific allele among all alleles for a gene in a
population.
3. Genotype Frequency: The proportion of a specific genotype among all genotypes in a
population.
4. Equilibrium: A state where allele and genotype frequencies remain constant over time in the
absence of evolutionary forces.
5. Migration (Gene Flow): Movement of individuals and their alleles from one population to
another.
6. Genetic Drift: Random changes in allele frequencies, especially significant in small
populations.
3.
Statement
• Definition: TheHardy-Weinberg principle states that allele and genotype
frequencies in a population will remain constant from generation to
generation in the absence of evolutionary influences.
• This principle provides a mathematical baseline for studying genetic
variation in populations. It's essentially a null hypothesis for detecting
whether evolution or other factors are acting on a population.
4.
Hardy-Weinberg Equation
1. AlleleFrequencies:
p + q = 1
In a diploid, p and q represent the
frequency of allele A and allele a.
2. Genotype Frequencies: p² + 2pq + q² =
1
• If alleles in the gamete pool exactly
mirror those in the parent generation,
and if they meet up randomly (in an
infinitely large number of events), there
is no reason—in fact, no way—for allele
and genotype frequencies to change
from one generation to the next.
5.
Conditions for theprinciple
• Large population size - The population must be sufficiently
large to prevent random changes in allele frequencies
(genetic drift)
• Random mating- It is to ensure that gene frequencies
remain stable and that there is no bias in mate selection,
which could otherwise alter the genetic makeup of the
population.
• No mutation-There must be no new alleles introduced by
mutation. Mutations alter allele frequencies by introducing
new alleles or converting one allele to another.
• No migration- No new alleles can enter the population
through migration, and none can leave. Migration can
introduce or remove alleles, changing the genetic structure
of the population.
• No natural selection- All genotypes must have equal
chances of surviving and reproducing. Natural selection
changes allele frequencies by favoring some genotypes over
others.
6.
Effect of NaturalSelection
• Natural selection is a process in which heritable
variations enabling better survival are enabled to
reproduce and leave greater number of progeny.
• It disrupts Hardy-Weinberg equilibrium by
favoring certain alleles over others, causing allele
frequencies to change.
• Example - selection due to presence of antibiotic
resistance gene in bacteria
7.
Effect of Mutation
•Mutation is a random change in the DNA sequence
of an organism, which can introduce new alleles into
a population.
• It alters allele frequencies by creating new alleles or
converting one allele to another, disrupting Hardy-
Weinberg equilibrium.
• Example - Sickle Cell Anemia Mutation
In areas with high malaria prevalence, individuals
heterozygous for the sickle cell allele (HbA/HbS) have a
survival advantage because they are more resistant to
malaria.
This demonstrates how a mutation can persist in a
population when it provides a selective advantage,
despite being harmful in homozygous form (HbS/HbS).
8.
Effect of Migration(gene flow)
• Migration, or gene flow, is the movement
of alleles between populations due to the
movement of individuals or gametes.
• It can alter allele frequencies in a
population, introducing new alleles or
changing the frequencies of existing
alleles, thereby disrupting Hardy-
Weinberg equilibrium.
Convergence at Gen 3 - indicating
significant gene flow and interbreeding
between the populations.
Post convergence - slight fluctuations are
observed, indicating continued but
balanced gene flow between the
populations.
9.
Effect of GeneticDrift
• Genetic drift is the random fluctuation of
allele frequencies in a population due to
chance events, especially significant in small
populations.
• It can cause allele frequencies to change
unpredictably over time, leading to
deviations from Hardy-Weinberg
equilibrium.
• Types- Founder effect and Bottleneck effect
Random sampling of gametes for
reproduction can result in some alleles being
overrepresented or lost by chance.
Over successive generations, these chance
events can lead to the fixation of one allele or
the loss of genetic variation.
10.
Testing for Hardy–Weinberg
Proportions
•Calculate observed genotype
frequencies.
• Calculate allele frequencies.
• Calculate expected genotype
frequencies under Hardy-Weinberg
equilibrium.
• Compute the chi-square statistic.
• Compare the chi-square value to the
critical value from the chi-square
distribution table.
• Example Data:
Genotype counts in a population: AA = 40, Aa = 50, aa =
10
Total individuals (N) = 40 + 50 + 10 = 100
1. Observed Frequencies of :
AA = 40/100 = 0.4
Aa = 50/100 = 0.5
aa = 10/100 = 0.1
2. Calculate Allele Frequencies:
A (p) = = 0.65
a (q) = 1 - p
= 1 - 0.65 = 0.35
11.
3. Calculate Expectednumber of Genotype Frequencies under Hardy-Weinberg Equilibrium:
AA (p²) × N = (0.65)² × 100 = 40.225
Aa (2pq) × N = 2 × 0.65 × 0.35 × 100 = 40.55
aa (q²) × 100 = (0.35)² × 100 = 12.25
4. Compute the Chi-Square Statistic:
χ² = Σ
After putting the values, χ² 0.
≈ 9784
5. Compare the Chi-Square Value to the Critical Value:
- Degree of Freedom (df) = number of genotypes - number of alleles = 3 - 2 = 1.
- Critical Value: For df = 1 and α = 0.05, the critical value is 3.841.
- Decision:
If χ² < 3.841, the population is in Hardy-Weinberg equilibrium.
In this example, 0.964 < 3.841, so the population is in equilibrium.
#4 In the absence of other factors, you can imagine this process repeating over and over, generation after generation, keeping allele and genotype frequencies the same.
#5 assumptions/ conditions
1. In small populations, chance events can cause significant fluctuations in allele frequencies, disrupting equilibrium.
Genetic drift - Random changes in allele frequencies, especially significant in small populations.
2. This helps maintain a consistent distribution of genotypes across generations.
#6 Graph - Stabilizing, Directional, Disruptive
Traits that confer a survival advantage become more common in the population over generations because the individuals with these traits have higher reproductive success.
example - antibiotioc resistance in bacteria
#7 3. heterozygote advantage concept
The upper part - what happens in red cells in a normal (Hb AA) person with malaria: after invasion of a red cell by a merozoite, this becomes a ring form, and this starts multiplying (schizogony) ; when a schizont is mature the infected red cell essentially bursts and releases new merozoites, each one of which can invade a new red cell.
The lower part of the cartoon is - what happens in red cells in an AS heterozygote with malaria: the red cell, which appears normal at the time of invasion, once infected undergoes sickling (probably as a result of deoxygenation and lowering pH caused by the parasite), and thus it falls easy prey to macrophages in the spleen, in other organs and even in the peripheral blood. Phagocytosis of a parasitized red cells clearly interrupts the schizogonic cycle and thus the parasitaemia can be kept under control.
#8 Graph - Over several generations, gene flow can lead to similar allele frequencies in initially different populations, moving towards Hardy-Weinberg equilibrium conditions if other factors (like mutation, selection, and genetic drift) are not influencing the allele frequencies significantly.
#9 Founder effect occurs when a population is initially established by a small number of breeding individuals. Although the population may subsequently grow in size and later consist of a large number of individuals, the gene pool of the population is derived from the genes present in the original founders.
Bottleneck effect is a form of genetic drift that occurs when a population is drastically reduced in size. During such a population reduction, some genes may be lost from the gene pool as a result of chance.