Population Genetics

Population genetics is the study of the behavior

of genes and how they affect populations.
 Today’s modern theory of evolution is rooted in
population genetics and expressed in genetic terms.

© 2015 Vanessa Jason (“Biology Roots”)

 Genetics: The Missing Link
Darwin struggled with his theory of natural
selection- he couldn’t fully explain why {what is the
driving force behind it?}
 Certain traits were passed onto the next generation.
Why?

It was the work of Gregor

Mendel that provided the
missing link for natural
selection.
Mendel’s work was largely
dismissed when he was alive,
but it was rediscovered in the
early 1900’s.
Charles Darwin Gregor Mendel
1809-1882 1822-1884 © 2015 Vanessa Jason (“Biology Roots”)
 DNA
Mendel’s work concluded that traits were passed on to
offspring, and that some traits were more powerful than
others (dominant vs. recessive).
DNA was discovered by Rosalind Franklin, James
Watson, and Francis Crick in the 1950’s. With the
discovery of DNA came the principle of genes. We
now understood how traits were passed on at a
molecular level.

© 2015 Vanessa Jason (“Biology Roots”)

 Genetic Variation in Populations
• The driving mechanism behind the
process of natural selection is genetic
variation.
– Natural selection favors/acts upon
PHENOTYPES (the physical quality of an
organism)- which as a result causes a change
in the gene pool – genes determine the
phenotypes.

© 2015 Vanessa Jason (“Biology Roots”)

 Number of Genes per Trait Affects
Genetic Variation
The number of phenotypes available for a given
trait is determined by how many genes control
the trait.
 Example) A widow’s peak in human is controlled by one
single gene. So there are only two possible phenotypes:
widow’s peak and no widow’s peak.
 Not much genetic variation for single gene traits.

© 2015 Vanessa Jason (“Biology Roots”)

 Polygenic Inheritance
In most instances,
traits are polygenic,
which means they
are controlled by two
or more genes.
Polygenic traits
result in MANY
PHENOTYPES. Bell curves can be created from data gathered
using polygenic traits. If a population of human
Polygenic traits in humans height is sampled and recorded as a normal
include skin color, hair distribution, a bell curve shaped graph will result.
color, eye color, and
For example, the hill in the middle of the curve
height.
represents a large number of individuals at a certain
height, which forms the average. Everything outside
that curve is considered an extremity (i.e., very short
or very tall).
© 2015 Vanessa Jason (“Biology Roots”)
 Normal Distribution
Normal distribution is
used widely across
many fields of
mathematics.

Normal distribution is a
range of values
clustered around an
In this example of normal average value. When
distribution, the shaded areas graphed, normal
determine the extreme variations distribution creates a
and the average or median are bell-shaped curve.
found in the center.

© 2015 Vanessa Jason (“Biology Roots”)

 Types of Natural Selection
1 There are 3 general ways
that a population variation
can shift:
1) Stabilizing: natural
2 selection that favors
average individuals in a
population.
2) Directional: Natural
selection that favors one
3
extreme variation.
3) Disruptive: individuals with
either extreme of a
variation are selected for.
© 2015 Vanessa Jason (“Biology Roots”)
 Example- Directional Selection
Food in the Galapagos
islands becomes scarce.
Birds with larger beaks are
able to eat a wider range of
food, and thus have a
higher fitness/chance of
survival.
Number of finches

There is a shift in the population. Beak

sizes are becoming larger, as those
finches with larger beaks are better
able to survive and reproduce.

Population after directional shift

Original population
Beak size in cm
© 2015 Vanessa Jason (“Biology Roots”)
 Genetic Equilibrium
If a population is in “genetic equilibrium”, it is
NOT evolving.
 Balanced
 frequency of alleles remain the same over
generations

IF there is a change in
the genetic equilibrium,
then the population is
evolving.

© 2015 Vanessa Jason (“Biology Roots”)

Changes in genetic equilibrium are usually due to one
of the FIVE EVOLUTIONARY FORCES:
1) Mutation- examples) radiation, chemicals  good or
bad or neutral {blue eyes}
2) Genetic Drift- genetic frequencies are altered by
chance events (natural disasters, etc.) Affects small
populations.
3) Gene Flow- movement of individuals into or out of a
population.

4) Nonrandom mating- If one genotype has a strong

preference over another when finding mates.

5) Natural Selection- environment determines favorable

conditions.
© 2015 Vanessa Jason (“Biology Roots”)
© 2015 Vanessa Jason (“Biology Roots”)
 Initial population has 100
individuals that can have 5
different colors.
There are 200 alleles for the
color gene (100 x 2 alleles)
Blue
Yellow
Green
Pink
Red
Total alleles per specific
phenotype divided by total
alleles in the population =0.20

© 2015 Vanessa Jason (“Biology Roots”)

 Allelic frequencies
changing over
generations is a sign
of the population
evolving due to an
evolutionary force.

Possible reasons: mutations, individuals leaving (gene flow),

genetic drift, natural selection or nonrandom mating!

© 2015 Vanessa Jason (“Biology Roots”)

Genetic Variation in Populations
Those individuals with the fittest phenotypes will
pass traits onto offspring.
-Unfit individuals will die off.

Example) The Peppered Moth During the Industrial

Revolution
Variation exists within populations. In the case of the
“peppered moth” (Biston betularia) moths could be dark in
appearance or light.

Dark variation Light variation

Genetic Variation in Populations
Example) The Peppered Moth During the Industrial
Revolution

In a population of peppered
moths found in England, there
were very few dark moths.

Why?

A whitish color lichen covered the trees, which hid the white moths
from predators. Dark moths were more likely to be hunted.
© 2015 Vanessa Jason (“Biology Roots”)
 Genetic Variation in Populations
Example) The Peppered Moth During the Industrial
Revolution

In the late 1700’s as England

approached the peak of the
industrial revolution, the trees
were changing color as they
absorbed soot and smoke.

© 2015 Vanessa Jason (“Biology Roots”)

 Allelic Frequency
The frequency of a specific allele in a population is
its allelic frequency.

Dark= dominant Light= recessive

BB or Bb bb
Example) A population
of 5 moths
GENE POOL
5 individuals=
Bb BB B B 10 alleles total
B
b b
b
bb b
bb b b
b
bb
© 2015 Vanessa Jason (“Biology Roots”)
 Allelic Frequency
3/10 or 0.30
What is the allelic frequency of the dominant allele B? __________

7/10 or 0.70
What is the allelic frequency of the recessive allele b? __________

Example) A population of 5 moths

GENE POOL
5 individuals=
Bb BB B B 10 alleles total
B
b b
b
bb b
bb b b
b
bb
© 2015 Vanessa Jason (“Biology Roots”)
 Allelic Frequency
The industrial revolution altered the environment.
 Light colored moths are easily hunted (unfit)
 Light moths are dying off faster than they reproduce.
 Dark moths continue to reproduce at a steady rate.

Example) A population of 5 moths

GENE POOL

Bb BB B B
B
b b
b
bb b
bb b b
b
bb
© 2015 Vanessa Jason (“Biology Roots”)
 Allelic Frequency
The industrial revolution altered the environment.
 Light colored moths are easily hunted (unfit)
 Light moths are dying off faster than they reproduce.
 Dark moths continue to reproduce at a steady rate.

Example) A population of 5 moths What happened

to the
GENE POOL population?
Bb BB B B
B B b What are the
b new allelic
bb b
B B frequencies?
BB b
Bb
© 2015 Vanessa Jason (“Biology Roots”)
 Hardy and Weinberg
And I am
Godfrey Harold
Ich bin Wilhelm Hardy,
Weinberg, mathematician.
allgemeinarzt
(physician).

GH Hardy and Dr. Wilhelm Weinberg worked independently of

one another, but each came to the same conclusion.

The Hardy-Weinberg principle states that the allelic

frequencies in a population will stay constant UNLESS one
of the five evolutionary forces acts against it.
© 2015 Vanessa Jason (“Biology Roots”)
 Hardy Weinberg Equation
Hardy and Weinberg were able to design an algebraic formula
to determine if a population is evolving/changing allelic
frequencies.

p2 + 2pq + q2 = 1
and
p+q=1
It’s not as scary as it looks!
You simply need to mind your p’s
and q’s! © 2015 Vanessa Jason (“Biology Roots”)
 Hardy Weinberg Equation
p2 + 2pq + q2 = 1
and
p+q=1
p= The frequency of the dominant allele
q= The frequency of the recessive allele
Another way of saying “=1” is “=100%”. However, because frequencies aren’t
written as percentages, you may need to divide by 100%. For example, if a
population consists of 4% of recessive alleles, that would be an allelic frequency
of 0.04. (4% ÷ 100%= 0.04)
A basic calculator is typically required for Hardy Weinberg equations.
© 2015 Vanessa Jason (“Biology Roots”)
 Hardy Weinberg Equation
p2 + 2pq + q2 = 1
and
p+q=1
p= The frequency of the dominant allele
q= The frequency of the recessive allele
p2= frequency of HOMOZYGOUS DOMINANT genotypes
2pq= frequency of HETEROZYGOUS genotypes.
q2=frequency of HOMOZYGOUS RECESSIVE genotypes
© 2015 Vanessa Jason (“Biology Roots”)
 Hardy Weinberg Equation
EXAMPLE)
A population has two alleles for a trait: B and b.
We know that 68% of the gene pool consists of B alleles.
Allelic Frequency of B= 0.68

p= 0.68
p2 + 2pq + q2 = 1
p + q= 1
and
q=0.32
p+q=1
Allelic Frequency of b= 0.32
© 2015 Vanessa Jason (“Biology Roots”)
 Hardy Weinberg Equation
EXAMPLE) A population has two alleles for a trait: B and b.
We know that 68% of the gene pool consists of B alleles.
Allelic Frequency of B= 0.68
Allelic Frequency of b= 0.32
How many individuals in the population are homozygous
dominant? p2=(0.68)2 =0.46 OR 46%
How many individuals in the
population are heterozygous? p2 + 2pq + q2 = 1
2pq= 2(0.68)(0.32) =0.44 OR 44%
and
How many individuals in the population
are homozygous recessive? p+q=1
q2=(0.32)2 =0.10 OR 10%
© 2015 Vanessa Jason (“Biology Roots”)
 Hardy Weinberg Equation
Try this. In population of 180 oysters, some have
thick shells (T) and others have thin shells (t).
Of the 180 oysters, 20 have thin shells.
Thin shells are recessive.
20 individuals=tt
What is the frequency of the recessive genotype?
20 ÷ 180= 0.11
What information does this give
us?
q2=0.11
© 2015 Vanessa Jason (“Biology Roots”)
 Hardy Weinberg Equation
Try this. In population of 180 oysters, some have
thick shells (T) and others have thin shells (t).
Of the 180 oysters, 20 have thin shells.
Thin shells are recessive.
20 individuals=tt
20 ÷ 180= 0.11
√ =0.11
q 2

q= 0.33

p=0.67

© 2015 Vanessa Jason (“Biology Roots”)

 Hardy Weinberg Equation
Try this. In population of 180 oysters, some have
thick shells (T) and others have thin shells (t).
Of the 180 oysters, 20 have thin shells.
Thin shells are recessive.
q=0.33
20 individuals=tt p=0.67
Homozygous dominant individuals= p2=0.45 or 45%
Heterozygous individuals= 2pq=0.44 or 44%
Homozygous recessive individuals= q2=0.11 or 11%

Make sure everything adds up! p2 + 2pq + q2 = 1

0.45 + 0.44 + 0.11= 1 p+q=1
0.33 + 0.67=1 © 2015 Vanessa Jason (“Biology Roots”)
 Try this…
In a population of mice, brown fur (B) is
dominant over gray fur (b).
The allelic frequency for brown fur is 0.60.
What is the frequency of heterozygous
brown mice?
Answer: 0.48

© 2015 Vanessa Jason (“Biology Roots”)

 Try this…
In a population of 16 giraffes extra long
necks (E) are dominant over regular long
necks (e).
13 of the giraffes have regular long necks
(ee).
Solve for p and q.

Answer:
p= 0.10
q= 0.90
© 2015 Vanessa Jason (“Biology Roots”)
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