GENE AND ALLELE
FREQUENCY
Prepared by:
ERIKA L. NOBLEFRANCA, RPF
Population genetics is the field of biology that studies allele frequencies in
populations and how they change over time.
-Is the study of how genes (specifically, alleles) change in a group of organisms
over time.
Allele frequency refers to how common an allele is in a population. It is
determined by counting how many times the allele appears in the
population and then dividing by the total number of copies of the gene.
The gene pool of a population consists of all the copies of all the genes in
that population.
Example:
A classroom of students as a population of organisms. Let’s say each
student has a colored wristband—either red or blue—which represents a
version of a gene (called an allele). If we count the colors:
15 red bands
5 blue bands
→ That means red allele = 75% and blue allele = 25%
This percentage is called the allele frequency. Over time, if more students start wearing
blue bands because red becomes unpopular, the blue allele frequency increases. That’s
what population genetics studies: how these frequencies change over time due to
different factors like environment, mating, mutation, or chance.
Microevolution and
population genetics
Microevolution, or evolution on a small scale, is defined as a change in the
frequency of gene variants, or alleles, in a population over generations. The
field of biology that studies allele frequencies in populations and how they
change over time is called population genetics.
Microevolution is sometimes contrasted with macroevolution, an evolution that involves
large changes, such as the formation of new groups or species, and happens over long
time periods. However, most biologists view microevolution and macroevolution as the
same process happening on different timescales. Microevolution adds up gradually, over
long periods of time to produce macroevolutionary changes.
Microevolution is a small change in allele frequency over a few generations.
Example:
➢ Let’s say you're studying a population of beetles in a forest.
➢ Most are green, but some are brown (brown is a rare allele).
➢ Birds can spot green beetles more easily and eat them.
➢ Over several generations, more brown beetles survive and reproduce.
As a result, the frequency of the brown allele increases.
Key Concept
populations, alleles, and allele frequency.
1. Populations
➢ A population is a group of organisms of the same species that are found in
the same area and can interbreed. A population is the smallest unit that can
evolve—in other words, an individual can’t evolve.
🧍♂️+🧍♀️+🧍 = population of humans
🐦+🐦+🐦 = population of birds
An individual can’t evolve, only populations can.
2. Alleles
An allele is a version of a gene, a heritable unit that controls a particular feature
of an organism.
For example, there’s a gene for flower color.
The red version is one allele, and the white version is another.
Alleles
An allele is a version of a gene, a heritable unit that controls a particular feature of an
organism.
➢ For instance, Mendel studied a gene that controls flower color in pea plants.
➢ This gene comes in a white allele, w, and a purple allele, W.
➢ Each pea plant has two gene copies, which may be the same or different alleles.
➢ When the alleles are different, one—the dominant allele, W—may hide the other—
the recessive allele, w.
➢ A plant's set of alleles, also called its genotype, determines its phenotype, or
observable features, in this case, flower color.
3. Allele frequency
➢ Allele frequency refers to how frequently a particular allele appears in a
population.
➢ For instance, if all the alleles in a population of pea plants were purple alleles, W,
the allele frequency of W would be 100%, or 1.0.
➢ However, if half the alleles were W and half were w, each allele would have an
allele frequency of 50%, or 0.5. In general, we can define allele frequency as:
3. Allele frequency
➢ This tells us how common an allele is in a population.
EXAMPLE
10 flowers:
➢ 6 have red alleles
➢ 4 have white alleles
➢ Then, red allele frequency = 60%, white = 40%.
Let’s look at an example. Consider the very small population of nine pea plants
shown below. Each pea plant has two copies of the flower color gene.
1. If we look at the two gene copies in each
plant and count up how many W copies are
present, we find there are 13.
2. If we count up how many w copies are
present, we find that there are five.
3. The total number of gene copies in the
whole population is 13 + 5 = 18.
Let’s look at an example. Consider the very small population of nine pea plants
shown below. Each pea plant has two copies of the flower color gene.
4. We can divide the number of copies of each
allele by the total number of copies to get the
allele frequency.
5. By convention, when there are just two
alleles for a gene in a population, their
frequencies are given the symbols p and q:
Allele frequency is different from genotype frequency or phenotype frequency. Genotype and phenotype
frequencies can also be calculated and are important for understanding how populations evolve, but they are
not the same thing as allele frequency. The diagram below shows the difference:
Let’s say you’re observing a population of rabbits.
➢ Some have black fur (dominant allele) and some have white fur (recessive allele).
➢ After a few winters, more white rabbits survive because they blend into the snow better.
➢ White rabbits reproduce more, and now more baby rabbits are white.
The allele frequency of the white-fur gene increased.
That’s microevolution and what population genetics studies.
Hardy-Weinberg
Equilibrium
It states that the frequencies of alleles and genotypes will stay the same through the
generations as long as there are no evolutionary influences. These evolutionary influences are
as follows:
1) No gene mutations may occur and therefore allele changes do not occur.
2) There must be no migration of individuals either into or out of the population.
3) Random mating must occur, meaning individuals mate by chance.
4) No genetic drift, a chance change in allele frequency, may occur.
5) No natural selection, a change in allele frequency due to environment, may occur.
If nothing changes in a population—no mutations, no one comes or leaves, everyone mates
randomly, no one gets selected for survival, and chance doesn’t interfere—then the gene
(allele) frequencies will stay the same forever.
In short: No evolution = No change in allele frequencies.
Hardy-Weinberg Equilibrium is like a genetic balance rule for
populations.
You're a teacher in a school where every student either wears:
A red shirt (RR) = homozygous dominant
A blue shirt (rr) = homozygous recessive
Or both colors (Rr) = heterozygous
If:
1. No students leave or transfer in (no migration)
2. No students change their shirts (no mutation)
3. They choose seatmates randomly (random mating)
4. There’s no bullying or favoritism (no natural selection)
5. And students don’t switch seats by accident (no genetic drift)
For the gene pool to stay in equilibrium:
1. No Mutations – No new alleles pop up or disappear.
Example: No one suddenly develops a new eye color gene.
2. No Migration – No one enters or leaves the group.
Example: No new rabbits hop into or out of the forest.
3. Random Mating – Mating is by chance, not preference.
Example: Rabbits choose partners randomly, not based on fur color.
4. No Genetic Drift – No random events affect who reproduces.
Example: A storm doesn’t randomly wipe out most brown-eyed people.
5. No Natural Selection – All traits are equally likely to survive.
Example: Predators don’t prefer green bugs over brown ones.
For the gene pool to stay in equilibrium:
1. No Mutations – No new alleles pop up or disappear.
Example: No one suddenly develops a new eye color gene.
2. No Migration – No one enters or leaves the group.
Example: No new rabbits hop into or out of the forest.
3. Random Mating – Mating is by chance, not preference.
Example: Rabbits choose partners randomly, not based on fur color.
4. No Genetic Drift – No random events affect who reproduces.
Example: A storm doesn’t randomly wipe out most brown-eyed people.
5. No Natural Selection – All traits are equally likely to survive.
Example: Predators don’t prefer green bugs over brown ones.
Hardy-Weinberg Equilibrium is like a genetic
balance rule for populations.
Total individuals = 1,000
360 Homozygous Dominant (AA)
480 Heterozygous (Aa)
160 Homozygous Recessive (aa)
Step 1: Find Genotype Frequencies
We divide each genotype count by the total
population (1,000):
Step 2: Find Allele Frequencies
We can use q² = 0.16 to find q:
Then use:
In Hardy-Weinberg, this equation means that the
total of all allele frequencies in a population is
equal to 1 (or 100%).
So:
•p = 0.6 (dominant allele frequency, A)
•q = 0.4 (recessive allele frequency, a)
Step 3: Verify Using Genotype Frequency
Equation
Allele Frequencies:
•p = 0.6 (A)
•q = 0.4 (a)
Genotype Frequencies:
AA (p²) = 0.36 or 36%
Aa (2pq) = 0.48 or 48%
aa (q²) = 0.16 or 16%