Exercise 10

POPULATION GENETICS
By: Candace Petty
OBJECTIVES:
Upon completion of this exercise, the student will be able to:
1. State the Hardy-Weinberg theorem.
2. State the conditions that must be met for the theorem to apply.
3. Write the general Hardy-Weinberg equation and use it to calculate
allelic and genotypic frequencies by using the proper symbols.
4. Demonstrate, with a simple example, that a disequilibrium
population requires only one generation of random mating to
establish Hardy-Weinberg equilibrium.
5. List the conditions a population must meet in order to maintain
Hardy-Weinberg equilibrium.
6. Calculate the allelic and genotypic frequencies in a given
population.
7. Calculate the allelic and genotypic frequencies in an actual human population.

INTRODUCTION
Hardy-Weinberg Theorem: Use and Application
The Hardy-Weinberg theorem is a model used for comparison to determine whether evolutionary
change is taking place in a natural population. A population is a localized group of individuals
belonging to the same species. If genotypic frequencies in a natural population are not those that
the Hardy-Weinberg theorem predicts, then the natural population is influenced by one or a
combination of the following microevolutionary processes: genetic drift, gene flow by migration,
mutation, non-random mating, and natural selection.

Hardy-Weinberg theorem is a model for a “theoretical” population. This model enables population
geneticists to compute predictions which serve as a null hypothesis for comparison with a naturally
evolving population. A population that fits the Hardy-Weinberg model will more than likely be a
population that is very large, isolated from other populations, with no new alleles arising by
mutation, that has random mating among individuals, and no natural selection occurring.
Populations that fit the model are in Hardy-Weinberg equilibrium.

The Hardy-Weinberg formulas allow scientists to determine whether evolution is occurring or has
occurred. Any changes in the gene frequencies in the population over time can be detected. The
theorem essentially states that if no evolution is occurring, then equilibrium of allele frequencies will
remain in effect in each succeeding generation of sexually reproducing individuals.

For Hardy-Weinberg equilibrium to be maintained (that NO evolution is occurring) then the five
conditions must be met:
1. No mutations must occur so that new alleles do not enter the population.
2. No gene flow can occur (i.e. no migration of individuals into, or out of, the population).
3. Random mating must occur (i.e. individuals must pair by chance)
4. The population must be large so that no genetic drift (random chance) can cause the allele
frequencies to change.
5. No natural selection. All genotypes are equal in survival and reproductive success.
Differential reproductive success can alter gene frequencies.
Obviously, the Hardy-Weinberg equilibrium cannot exist in real life. Some or all of these types of
forces all act on living populations at various times and evolution at some level occurs in all living
organisms. The Hardy-Weinberg formulas allow scientists to detect some allele frequencies that
change from generation to generation, thus allowing a simplified method of determining that
evolution is occurring. There are two formulas that must be understood and memorized:

For allele frequencies: 1 = p + q

For genotype frequencies: 1 = p2 + 2pq + q2

p = frequency of the dominant allele in the population

q = frequency of the recessive allele in the population

p2 = percentage of homozygous dominant individuals

q2 = percentage of homozygous recessive individuals

2pq = percentage of heterozygous individuals

Hardy-Weinberg Equilibrium: Allele and genotypic frequencies do not change from one
generation to the next because the population does not experience selection, mutation, migration,
genetic drift, or non-random (selective) mating.
Hardy-Weinberg Theorem: Frequencies of alleles and genotypes in a population remain constant
over generations unless acted on by agents other than Mendelian segregation and recombination of
alleles.
Population: a localized group of individuals belonging to the same species
Gene pool: all the genes of the population
Microevolution: a generation-to-generation change in a population’s frequencies of alleles; two
main causes are genetic drift and natural selection.
Genetic drift: change in a population’s allele frequencies due to chance alone.
Natural selection: a difference in survival and fecundity of individuals with certain phenotypes
compared with individuals of other phenotypes.
Bottleneck Effect: an effect that reduces the size of a population drastically due to a natural
disaster. Natural disasters include earthquakes, fire, flooding, drought, hurricanes, etc.
Founder Effect: When individuals of a population become isolated and colonize a new habitat; the
smaller the colonizing sample, the less alleles available for utilization.

Example problem:
Imagine we have a sample of 100 individuals, 85 of whom habitually place their left thumb on
top when folding their hands. If we assume that this trait is selectively neutral, that placing the
left thumb on top is a dominant trait coded for by allele (D), and that placing the right thumb
on top is coded for by recessive allele (d), we can determine the expected proportion of
heterozygote:
Start by writing down the known information:
Total Individuals = 100 Left thumb on top (D) = 85 { p2 = f (D)= 85/100= 0.85 }
To calculate the recessive phenotype:
The frequency of phenotype right thumb on top is (.15) and is q2, the proportion of
homozygous recessives, because anyone who places the right thumb on top definitely has two
copies of the recessive d allele.
Right thumb on top (d)= 100 – 85 = 15
q2 = f (d) = 15/100 = 0.15
We take the square root of 0.15 to obtain q, the allele frequency of d = 0.387
½
q = f (d) = 0.15 = 0.387
Now, we obtain p, the allele frequency of D:
p+q=1 p + 0.387 = 1 p = f (D) = 0.613
Using the Hardy-Weinberg formula given above, we can determine the proportion of
heterozygotes in this sample:
2pq = f (Dd) = 2(0.613)(0.387) = 0.474
2
P = f (DD) = 2pq = f (Dd) = 0.474 q2= f (dd) = 0.15
To see if this population is in Hardy-Weinberg equilibrium, simple substitute the numerical
values for p and q into the equation: p2 + 2pq + q2 = 1
(0.613) 2 + 2(0.613)(0.387) + (0.387) 2 =1
Yes, this theoretical population sample is in Hardy-Weinberg equilibrium. There are no
evolutionary forces taking place at this time.

Hardy Weinberg Equation of Population Genetics

Assumptions
• large population - to insure no sampling error from one generation to the next
• random mating - no assortive mating or mating by genotype
• no mutations - or mutational equilbrium
• even new mutations have little effect on allele frequencies from one generation to the next
• no migration between populations
• no selection - all genotypes reproduce with equal success
Basic Relations
• two alleles at a gene - A and a
• frequency of the A allele = p
• frequency of the a allele = q
• p+q=1
• 1-q=p

Equations are given by:

1.) Genotype frequencies are given by the equation: p2 (AA) + 2pq (Aa) + q2 (aa) = 1
2.) This equation can be generated in two ways.
I) Since each person has two alleles at a gene, the distribution of possibilities at the gene is
equal to the square of the allele possibilities or
(p (A) + q (a))² = p² (AA) + 2pq (Aa) + q² (aa)
II) Any person is the result of the union of two gametes which have the probability of
containing a specific allele which is equal to the allele frequency or this can be diagrammed as a
Punnett square which can be summed to p² (AA) + 2pq (Aa) + q² (aa)
 p (A) q (a)
p (A) p² (AA) pq (Aa)
q (a) pq (Aa) q² (aa)

Calculation of allele frequencies

1) Recessive traits: If the frequency of a recessive trait (such as CF or PKU) is known, it is
possible to calculate allele frequencies and genotype frequencies using the Hardy Weinberg equation
and its assumptions as follows:

A. 1 in 1,700 US Caucasian newborns have cystic fibrosis which means that the frequency of
homozygotes for this recessive trait is
q² = 1/1,700 = 0.00059

B. The square root of the frequency of recessives is equal to the allele frequency of the CF allele
q = (0.00059)0.5 = 0.024

C. The frequency of the normal allele is equal to 1 - the frequency of the Cf allele
p = 1- q = 1 - 0.024 = 0.976

D. The frequency of carriers (heterozygotes) for the CF allele is

2pq = 2 (0.976)(0.024) = 0.047 or 1/21

E. The frequency of homozygotes for the normal allele is

p² = (0.976)² = 0.953

F. Thus the population is composed of three genotypes at the calculated frequencies of

• homozygous normal = 0.952576
• heterozygous carriers = 0.046848
• homozygous affected = 0.000588

2.) Co-dominant or Incomplete Dominant Traits: a more accurate calculation can be made if
all three genotypes can be ascertained and no assumptions have to be made about whether the
population obeys the Hardy Weinberg equation.

A. If all three (or more) genotypes can be identified (ascertained) independently, allele frequency
calculations merely involve adding up the total number of each allele and dividing by the total
number of alleles.
B. In the MN blood group system, the M and N antigens are determined by different alleles at the
same gene. Thus, individuals have one of three blood types: M, MN or MN with the corresponding
genotypes of MM, MN, or NN.

C. If a population consists of the following:

MM MN NN
512 256 32

The frequency of the M allele is obtained by summing the number of M alleles in the population
and dividing by the total or *(2 x number of MM individuals + number of MN individuals) / 2 x total
number of individuals *or, using the numbers from above: (2 x 512 + 256) / 2 x 800 = 1280/1600
= 0.8 (the simple relationship of q = 1 - p can be used to calculate a q (N) of 0.2)
D. A simple formula then is that the frequency of an allele is given by the following:
p (A) = (twice the AA homozygotes + the Aa heterozygotes) / twice the total number of individuals
and q (a) = 1 - p.

E. Another way of making the calculation is to remove the multiplications by two as follows:
p (A) = (all the AA homozygotes + half the Aa heterozygotes) / the total number of individuals

Blood Typing, ABO Allele Frequencies

The Hardy Weinberg equation for population genetics is usually presented for the case of two alleles
for one gene. The equation can be extended to multiple alleles and the ABO blood group system
with three alleles can be analyzed by H-W. First, the basic allele frequency statement of the H-W
equation is modified as follows:
let p = the frequency of the A allele
let q = the frequency of the B allele, and
let r = the frequency of the i allele.
such that p + q + r = 1
The frequency distribution of the various genotypes is given in the following table:

Blood Blood Group

Genotype Frequency
Type Frequency

O ii r² r²

AA p²
A p² + 2pr
Ai 2pr

BB q²
B q² + 2qr
Bi 2qr

AB AB 2pq 2pq

Allele frequency calculation

1. i allele frequency
Clearly, the frequency of blood type O indivduals is equal to r² or r is equal to the
square root of the frequency of type O individuals.
2. A allele frequency
The frequency of blood type A individuals is equal to p² + 2pr. If one adds together the
frequency of the blood type A and O individuals, the result is p² + 2pr + r² or (p +
r)².
Thus, p + r is equal to the square root of the sum of the frequencies of the A and O
individuals.
3. B allele frequency
The frequency of blood type B individuals is equal to q² + 2qr. If one adds together the
frequency of the blood type B and O individuals, the result is q² + 2qr + r² or (q +
r)².
 Thus, q + r is equal to the square root of the sum of the frequencies of the B and O
individuals.
ABO sample calculation
The frequencies of the ABO blood types for the US White population are as follows:

Type O A B AB

Frequency 0.45 0.41 0.10 0.04

1. The frequency of the i allele is the square root of 0.45 or 0.67

2. The frequency of the A allele is the square root of (0.45 + 0.41) - the frequency of i or 0.93
- 0.67 = 0.26.
3. The frequency of the B allele is 1 - p - r since the frequencies of all three alleles must add
to 1.0. So, the B allele frequency is 1 - 0.26 - 0.67 = 0.07.
1107 Pre-Lab: Exercise 10 Name_____________________________
Hardy-weinberg Section _______ Date _______________

Do NOT photocopy any portion of this laboratory report form, distribute to others, and submit as your
own work. Any or all of these events will results in an automatic zero “0” for the assignment.

1. List the five conditions under which the Hardy-Weinberg theorem holds:
1.
2.
3.
4
5.

2. Given a population with two alleles (A and a) at a single gene locus, write the equation for
the hardy-Weinberg theorem:

3. Given a population with two alleles (A and a) at a single locus, what is:
p2 =
q2 =
2pq =

4. If q=0.28, then what is the frequency of p?

5. If p2=0.49, then what is the frequency of q?

6. Define the following terms: (Use your textbook)

• Allele

• Gene

• Founder Effect

• Bottle neck effect

• Evolution
 ESTABLISHING HARDY-WEINBERG
ACTIVITY 10.1
EQUILIBRIUM

MATERIALS
Gene Pool containing:
60 cards with A alleles
240 cards with a alleles
Calculator

INTRODUCTION
Recall, it is at the population level that evolution occurs. A population is a group of individuals of the
same species in a given area whose members can interbreed. Because the individuals of a
population can interbreed, they share a common group of genes known as the gene pool. Each gene
pool contains all the alleles for all the traits of all the population. For evolution to occur in real
populations, some of the gene frequencies must change with time. The gene frequency of an allele
is the number of times an allele for a particular trait occurs compared to the total number of alleles
for that trait. Gene frequency = the number of a specific type of allele/the total number of alleles
in the gene pool

An important way of discovering why real populations change with time is to construct a model of a
population that does not change. This is just what Hardy and Weinberg did. Their principle describes
a hypothetical situation in which there is no change in the gene pool (frequencies of alleles), hence
no evolution.

Consider a population whose gene pool contains the alleles A and a. Hardy and Weinberg assigned
the letter p to the frequency of the dominant allele A and the letter q to the frequency of the
recessive allele a. Since the sum of all the alleles must equal 100%, then p + q = 1. They then
reasoned that all the random possible combinations of the members of a population would equal
(p+q)2 or p2+ 2pq + q2.
The frequencies of A and a will remain unchanged generation after generation if the following
conditions are met:
1. Large population. The population must be large to minimize random sampling errors.
2. Random mating. There is no mating preference.
For example an AA male does not prefer an aa female.
3. No mutation. The alleles must not change.
4. No migration. Exchange of genes between the population and another population must not occur.
5. No natural selection. Natural selection must not favor any particular individual.

To determine allelic frequency: p + q = 1

o p is the number of dominant alleles
o q is the number of recessive alleles
o This equation tells us how often these alleles are found in a particular population (how often
each allele occurs)

p= ___# A’s____ #A’s= (2 x count of AA individuals) + (count of Aa individuals)

# of all alleles #all= (2 x count of all individuals)
# a’s = (2 x count of aa individuals) + (count of Aa individuals)
q= # a’s_____
# of all alleles
PROCEDURE
1. From the gene pool, select 10 cards, then go back to your seat.
2. Count how many “A” alleles you have and how many “a” alleles you have.
3. After your instructor finishes adding up the total count for the class, record the totals on the DRF
4. Calculate the frequencies of A and a in your class and record.
5. Now randomly pair your alleles so that you have 5 sets of alleles just like the genotypes of diploid
organisms.
6. After your instructor counts the total AA, Aa and aa combinations in your class, record these
numbers in your chart.
7. Calculate the frequencies of each of these combinations in your class and record.
8. Spread your 10 cards out in one hand as if you were playing cards. Make sure that you are the
only one who sees the alleles. Go around the room and find another person to trade with. Let that
person take one of your alleles, you take one of their alleles. (Don’t peak!) Now take your new
allele and put it away so you won’t trade it again.
9. Trade 4 more alleles with 4 more people (only 1 trade with each person).
10. When you have only 5 alleles left in your hand and 5 new ones that are trades, sit down.
11. Again, pair up your alleles randomly, so that you have 5 pairs.
12. After your instructor counts the total AA, Aa and aa combinations in the class, record these
numbers in your chart.
13. Calculate the frequencies of each of these combinations and record.
14. Use the chi-squared test to determine whether your population is in Hardy-Weinberg
equilibrium.
15. Repeat steps 8-14 again if the population is not in Hardy-Weinberg equilibrium.

Activity 10.2 HUMAN GENETICS

1. Using the students in the workshop as a model for the isolated population, determine
your phenotype for the following genetic traits.
2. Next determine the phenotype (s) expressed in this population
3. Once the phenotypes are completed with your information and the entire populations,
determine the genotypes possible for you and the population.

Trait #1
You Population
Hair Line Phenotype Genotype Phenotype Genotype
Widow’s Peak = E

Straight = e

Trait #2
You Population
Earlobes Phenotype Genotype Phenotype Genotype
Free Earlobe = A

Attached Lobe = a
Trait # 3
You Population
Hitchhikers Phenotype Genotype Phenotype Genotype
Thumb
Straight Thumb = T

Bent Thumb = t

Trait # 4
Mid Digit You Population
Hair Phenotype Genotype Phenotype Genotype
Hair on
Mid-digit = H

No Hair on
Mid-digit = h

Calculate the allele and gene frequencies for this isolated population for all four traits.
For allele frequencies: 1 = p + q For genotype frequencies: 1 = p2 + 2pq + q2

Trait #1: Widows Peak: Dominant E allele = p Recessive e allele = q

• What is the allelic frequency of q ?

• What is the allelic frequency of p ?

• What is the frequency of the heterozygous individual?

• What is the frequency of the homozygous recessive individuals?

• What is the frequency of the homozygous dominant individuals?

• Is the population in Hardy-Weinberg equilibrium?

Trait # 2: Earlobes: Dominant A allele = p Recessive a allele = q

• What is the allelic frequency of q ?

• What is the allelic frequency of p ?

• What is the frequency of the heterozygous individual?

• What is the frequency of the homozygous recessive individuals?

• What is the frequency of the homozygous dominant individuals?

• Is the population in Hardy-Weinberg equilibrium?

Trait # 3: Hitch Hikers Thumb: Dominant T allele = p Recessive t allele = q

• What is the allelic frequency of q ?

• What is the allelic frequency of p ?

• What is the frequency of the heterozygous individual?

• What is the frequency of the homozygous recessive individuals?

• What is the frequency of the homozygous dominant individuals?

• Is the population in Hardy-Weinberg equilibrium?

Trait # 4: Mid Digit Hair: Dominant H allele = p Recessive h allele = q

• What is the allelic frequency of q ?

• What is the allelic frequency of p ?

• What is the frequency of the heterozygous individual?

• What is the frequency of the homozygous recessive individuals?

• What is the frequency of the homozygous dominant individuals?

• Is the population in Hardy-Weinberg equilibrium?

Data Report Form: Exercise 10 Name________________________________
1107 hardy-weinberg Section ________ Date _________________

Do NOT photocopy any portion of this laboratory report form, distribute to others, and submit as your own work. Any
or all of these events will results in an automatic zero “0” for the assignment.

Table 10.1 : Individual Allelic frequencies (p+ q = 1)

A a total
Count
Frequency 1

Table 10.2 : Individual Genotypic frequencies (p2 + 2pq + q2 = 1)

Counts Frequencies
AA Aa aa total AA Aa aa total
Round
1
1
Random
mating 1
1
Random
mating 1
2

2.Calculate the gene frequencies for a population in which 16% of the individuals are
homozygous recessive with genotype bb. Also determine the frequencies for genotypes BB and
Bb.

q (the recessive allele) =________________ 2pq (heterozygous)=_______________________

p (the dominant allele) =________________ q2 (homozygous recessive) = ________________

p2 (homozygous dominant) =_____________

3. The allele for the hair pattern called "widow's peak" is dominant over the allele for no
"widow's peak." In a population of 1,000 individuals, 510 show the dominant phenotype. How
many individuals would you expect of each of the possible three genotypes for this trait?
4. A survey of 212 cats was conducted with 178 cats having black fur coats, while the
remaining cats expressed a white fur phenotype. Assuming that the black hair is
dominant over the white, determine the following:

A. What is the percentage of the cat population exhibiting the black hair phenotype?

B. What is the percentage of the cat population exhibiting the white hair phenotype?

C. What is the allelic frequency of q ?

D. What is the allelic frequency of p ?

E. What is the frequency of the heterozygous individuals, carriers?

5. If in a population of ruddy ducks, 3 out of every 10 birds display the recessive

phenotype for floppy tail, then the values for the following are:

p=

p2=

q=

q2=

6. If there are 338 butterflies in a population of 431 that express the dominant
phenotype for black wing color, then what are the values for:

p=

p2=

q=

q2=
References & Links for Hardy-Weinberg, Mendel, Genetics:
Handouts on classroom population genetic traits
http://gslc.genetics.utah.edu/teachers/files/traits_inventory111.pdf
Hardy-Weinberg Calculator
http://bioserver.georgetown.edu/class/hardy/hardy2.html
Lecture Notes on Hardy-Weinberg (HW)
http://www.tiem.utk.edu/~gross/bioed/bealsmodules/hardy-weinberg.html
AccessExcellence: National Health Museum: Lesson Plans, Activities Exchange
http://www.accessexcellence.org/AE/AEPC/WWC/1995/hardyweinberg.html
Oracle ThinkQuest: Evolution Revolution (life science, evolution, scie & technology)
http://www.thinkquest.org/library/site_sum.html?tname=19926&url=19926/java/library/article/09a.htm
Genetic Equilibrium: the Hardy-Weinberg Law (A ThinkQuest Exercise)
http://library.thinkquest.org/19926/java/library/article/09a.htm
****General Strategies for solving Hardy-Weinberg problems**** Must use this**
http://www.mansfield.ohio-state.edu/~sabedon/biol1509.htm
Great HW problems:
http://www.personal.psu.edu/faculty/w/x/wxm15/Online/Evolution/hardy_weinberg_ws_01.htm
AP Bio Lab on HW
http://www.lewport.wnyric.org/jwanamaker/download/hardy-weinberg.pdf
Genetic workshop HW problems:
http://www.synapses.co.uk/genetics/wrkshp4.html
More genetics problems w/ answers
http://faculty.uca.edu/~benw/biol4415/answers.htm
Population genetic problems Uni Arizona
http://nitro.biosci.arizona.edu/courses/EEB182/handouts/spopgen.html
Mendel’s 1st law of segregation:
http://www.ndsu.nodak.edu/instruct/mcclean/plsc431/mendel/mendel1.htm
AWESOME F1 & F2 GENERATION SIMULATION: CAN plant own corn etc.
http://www.brooklyn.cuny.edu/bc/ahp/MGInv/MGI.Q3.html
Several experiments on Mendel’s work (simulations)
http://www.brooklyn.cuny.edu/bc/ahp/MGInv/MGI.Inv.html
Mendel genetic problems, great problems:
http://www.mansfield.ohio-state.edu/~sabedon/biol1123.htm
ANIMATED, Interactive basics in Biology:
http://gslc.genetics.utah.edu/units/basics/
http://gslc.genetics.utah.edu/
Developmental Biology weblinks, movies, interactive pages, etc
http://gslc.genetics.utah.edu/units/basics/bodypatterns/
A genetic tree of traits teacher & student
http://gslc.genetics.utah.edu/teachers/files/traits_inventory111.pdf
http://www.people.virginia.edu/~rjh9u/domrec.html
PTC tasting: http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171200