B io Factsheet

www.curriculum-press.co.uk Number 211

Hardy Weinberg and Population

Genetics
In 1908, G.H. Hardy in England and W. Weinberg in Germany The ABO blood group system
proposed a Law that stated that in a randomly mating, large In the UK for a long time the most common blood group was O and
population of organisms, the frequency of alleles would remain the rarest blood group was AB.
constant from generation to generation. This Factsheet explains
The percentage of the population with each blood group, A, B , AB
the basis for this equilibrium in allele frequency.
or O remained remarkably stable. The controlling gene, I, has three
alleles, which control the production of proteins on the red blood
Students often ask Why do we need to know this? cell surface.
Because an understanding of evolution depends upon some
knowledge of population genetics. The Hardy Weinberg Table 1 Blood Group and Phenotype
Equilibrium idea is useful when answering such questions as: Genotype Phenotype
Why are there still blue eyed people in the population when A A
I I Group A
the brown eyed gene is dominant? IA IO Group A
IA IB Group AB
Why dont recessive alleles disappear from a population
IB IB Group B
altogether?
IB IO Group B
Why is Blood Group O the most common blood type when IO IO Group O
it is a recessive trait?
The Hardy Weinberg principle provides a baseline to determine The proportion of the allele O in the population has remained the
whether or not gene frequencies have changed in a population same. The proportion of each allele in the genotypes are the same,
and thus whether evolution has occurred. and even though the allele does not show up in A, B or AB
phenotypes the heterozygous individuals that carry the recessive
allele O ensure that each generation will contain people with blood
Common misconceptions group O. Gene frequencies and genotype ratios remained constant
The dominant allele of a characteristic will always have the from generation to generation and would be said to have been in
highest frequency in a population. The recessive allele will Hardy Weinberg Equilibrium.
always have the lowest frequency in the population.
Hardy and Weinberg
On the contrary: There is no reason that a dominant trait should
Hardy and Weinberg were population geneticists looking at the
show a tendency to spread over a whole population, or that a
way in which populations change with time and their starting point
recessive characteristic should die out. Gene frequencies can
was to look at what the gene frequencies would be in a population
be high or low no matter how the allele is expressed.
that didnt change. They constructed a model of a hypothetical
situation in which there was no change in the gene pool, no change
in the frequency of alleles and hence no evolution.
Background Information
Evolution, the change of the characteristics of Organisms over Conditions under which gene frequencies would remain
time, occurs at the population level. unchanged.
A Population is a group of individuals of the same species in a The population would be large.
given area whose members can interbreed. There would be random mating.
In theory all the members of the population can interbreed and There would be no mating preference.
they share a common set of genes known as the Gene Pool. No mutation. The alleles would not change.
A Gene Pool contains all the alleles for all the traits/characteristics No migration. No immigration or emigration. The population is
of all the population. isolated.
Evolution occurs in real populations when some of the gene No Natural Selection favouring a particular individual.
frequencies change over time.
the number of a specific type of allele
Gene frequency = Hardy and Weinberg used algebra to explore their ideas and realised
the total number of alleles in the gene pool. the significance of using the binomial expansion in relation to
population genetics and evolution.

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211. Hardy Weinberg and Population Genetics Bio Factsheet
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Getting down to the Algebraic method! There is a 25% chance that the individual is homozygous dominant
Imagine the case where there are simply 2 alleles for a (BB)
characteristic. There is a 25% chance that the individual is homozygous recessive
We shall call these alleles B and b. (bb)
Imagine a population of 25 individuals thus having 50 alleles There is a 50% chance that the individual is heterozygous ( 2 x Bb)
between them in their gene pool. There is a 100% chance that the individual is one of these forms!
If within the population of diploid individuals, (genotypes BB
or Bb or bb), there were 20 B alleles and 30 b alleles; So BB + 2Bb + bb = 1.0 ( 100%)
The total population adds up to 100% (for equilibrium equations
Gene Pool this is shown as 1)
B b B b b b b b bb b B Or p2 + 2pq + q2 = 1.0
B Bb Bb b B B b B B B b B Bbb b
b b B b b b
B b b B B This is the Hardy Weinberg expression.
b b B b b b B b B b This binomial expansion of the p + q = 1 equation for allele
frequencies gives us (p + q) 2 = p2 + 2pq + q2
where:
p2 represents the fraction of the population homozygous for p
Then the frequency of allele B would be 20/50 = 0.4 = 40% q2 represents the fraction of the population homozygous for q
Then the frequency of allele b would be 30/50 = 0.6 = 60% 2pq represents the fraction of the population who are
o Let the frequency of the dominant allele, B, be represented by q heterozygotes
o Let the frequency of the recessive allele, b, be represented by p
Now together B plus b must add up to 100% or 1 Exam Hint: Remember that allele frequencies are represented
40% + 60% =100% by p and by q, whereas genotype frequencies of individuals
0.4 + 0.6 = 1 are represented by p2, 2pq and q2

p+q=1
Always express frequencies as decimals. Convert fractions and %s
Now we can work out the frequencies of these genotypes BB, Bb to decimal values before you start.
and bb. Both males and females will produce haploid gametes
Using the formulae we can calculate the frequency of any allele and
containing either B or b.
the frequency of the genotypes in the population if we are given
enough information about the occurrence of a characteristic in that
Table 2 shows the results of random mating. The allele frequencies
population.
are in brackets.
A worked example:
Table 2 A recessive allele causes a brain defect in babies.
Male gametes and frequency The number of babies born with this defect is 1 in 25,000

B (p) b (q) So the frequency of these individuals, represented by q 2, is

1/25,000 = 0.00004
Female gametes B (p) BB (p2) Bb (pq) So the frequency of the allele, q, is the square root of this v
and frequency 0.00004 = 0.0063
b (q) Bb (pq) Bb (q2 )
As the frequency of both alleles, p + q must equal 1,
Or looked at another way: Then p = 1 0.0063 = 0.9937

Let p = frequency of allele B
Let q = frequency of allele b
If the first If the second Frequency of the two alleles
allele is: allele is:
B B
B b
b B
b b
Now we have values for p and q, we can calculate the frequency
of the other genotypes:
From the Hardy Weinberg formula, the frequency of the
heterozygote individuals is given by 2pq
2 0.9937 0.0063 = 0.0125
occurring together
In other words 125 per10,000 of the population are heterozygous
p x p = p2 for the brain defect i.e. they are carriers.
p x q = pq The frequency of the homozygous dominants is given by p2
q x p = pq 0.9937 0.9937 = 0.9874
In other words 9,874 per 10,000 of the population are homozygous
q x q = q2
normal
In the original population of 25,000, where one baby suffers the
defect, 313 will carry the allele and 24,686 people will be normal.

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211. Hardy Weinberg and Population Genetics Bio Factsheet
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Considerations Practice Questions

The heterozygotes are acting as a reservoir for the allele, maintaining 1. A species of bird, only found on a remote island, has a
it in the gene pool. They are phenotypically normal and are not characteristic controlled by a pair of codominant alleles, CM
selected against and so the allele remains. and CN.
There were 500 birds in the total population. In this population,
There are 313 recessive alleles in the heterozygotes and 2 alleles in 300 birds had the genotype CM CM, 150 had the genotype CM
the defective homozygote, making 315 defective alleles in all. Even if CN and 50 had the genotype CN CN.
the defective individual dies, the allele frequency will only drop by 2.
Even with the removal of all defective individuals it would take many (a) Calculate the actual frequency of the allele CN by using
generations to halve the allele frequency. these figures.
(b) Use your answer to (a) and the Hardy-Weinberg equation to
Another worked example calculate the number of birds that would be expected to
In a certain species the fur can be brown or reddish in colour. The have the genotype CN CN.
red colour is caused by a recessive allele, r, and 25% of the
2. A recessive allele gives increased resistance to infection by the
population are red.
malarial parasite. In a population, the proportion of babies born
who are homozygous for this allele is 0.01. Use the Hardy-
What is the frequency of the heterozygous and homozygous
Weinberg equation to calculate the expected proportion of
individuals?
heterozygotes in this population.
The red genotype ,rr, has a frequency of 25% or 0.25 3. Huntingtons disease is an inherited condition resulting in
The frequency of the recessive homozygote is represented by q2 gradual degeneration of nerve cells in the brain. It is caused by
so rr = q2 = 0.25 a dominant allele but there are usually no symptoms until the
person is at least 30 years old. It is very rare in most populations
Therefore q = v 0.25 = 0.5 but in one isolated area of South America, 48% of the population
possess a genotype which gives rise to Huntingtons disease.
As p + q = 1, so p = 1 0.5 = 0.5 Many of the inhabitants of this area can trace their origins back
to a common ancestor 200 years ago.
To find RR we need p2
(a) Use the Hardy-Weinberg equation to estimate the
p2 = 0.5 0.5 = 0.25 or 25%
percentage of this population which is heterozygous for
So the frequency of the homozygous RR is 25%
Huntingtons disease. Show your working.
To find the frequency of the heterozygotes we need to find 2pq (b) Outline why Huntingtons disease has not been eliminated
2pq = 2 0.5 0.5 = 0.5 or 50% from this population by natural selection.
The frequency of the heterozygotes, Rr, is 50%

No survival / selective disadvantage;

offspring; frequency of heterozygotes = 2pq = 2 x 0.1 x 0.9;
Genetic argument Hh x hh _ 50% / Hh x Hh _ 75% affected p = 0.9
apparent; q = 0.1;
Reproduction occurs before symptoms of disease are 0.01 = q2 ;
High probability of mating with person having H-allele; p + q = 1 and p2 + 2pq + q2 = 1;
no migration / in-breeding; 2. correct answer = 0.18;
(b) Genetic isolation / small gene pool / no immigration /
= 31.25 / 31; 3
Answer = 40%; p2 + 2pq + q2 = 1.0;
Answer = 2pq / use of appropriate numbers; (b) p2 = (0.25)2 / 0.0625 / square of calculated figure for CN ;;
p + q = 1 / p2 + 2pq + q2 = 1 ;
(p = 1 0.72 = 0.28) CN = 250/1000;
3 (a) (q2 = 0.52 / q = 0.72) 1. (a) 0.25 / 25%;;
Markschemes

Acknowledgements:
This Factsheet was researched and written by Jenny Jones
Curriculum Press, Bank House, 105 King Street, Wellington, Shropshire, TF1 1NU.
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