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Lecture 8a Population

Cambridge, UK
(July, 1908)

Stuttgart, Germany
(January, 1908)

Genetics:

Hardy-Weinb erg Equilibriu m

GODFREY HAROLD
HARDY, FRS

Ireneo L. Lit, Jr., Ph.D.

WILHELM WEINBERG

EBD, IBS, CAS, UPLB

Deals with the problem of genetic variation &

natural selection
Attempts to answer the question:
Why do allele frequencies stay constant for
long periods ?

WILLIAM ERNEST CASTLE, Harvard, USA (1903)

The study of the properties of genes in

populations

Genetic variation within natural populations

was a puzzle to Darwin & his
contemporaries
Reason:
- The way by which meiosis produces
genetic segregation among the progeny of
a hybrid had not yet been discovered

They thought that Natural Selection should

always favor the optimal form & eliminate
variation
Also, blending inheritance was widely
accepted if correct, then the effect of any
new genetic variant would be quickly
diluted & disappear in subsequent
generations

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Hardy & Weinberg showed that the

frequency of genotypes in a population will
stay the same from one generation to the
next.
Dominant alleles do not, in fact, replace
recessive ones.
We call this a Hardy-Weinberg equilibrium
This means that if 23% of the population has
the genotype AaTTRR in a generation,
23% of the following generation will also
have that genotype.

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1)
2)

3)
4)
5)

A large population, to ensure no statistical

flukes
Random mating (i.e. organisms with one
genotype do not prefer to mate with
organisms with a certain genotype)
No mutations, or mutational equilibrium
No migration between populations (i.e. the
population remains static)
No natural selection (i.e. no genotype is
more likely to survive than another)

1)
2)

3)
4)
5)

No mutations, or mutational equilibriu m

No migration between populations (i.e. the

population remains static)

A large population, to ensure no statistical

flukes
Random mating (i.e. organisms with one
genotype do not prefer to mate with
organisms with a certain genotype)

In a population exhibiting the Hardy-Weinb erg

equilibriu m, it is possible to determine the
frequency of a genotype in the following
generation without knowing the frequency in
the current generation.

No natural selection (i.e. no genotype is

more likely to survive than another)

Hardy and Weinberg determin ed that the

following equations can determin e the
frequency when p is the frequency of allele A
and q the frequency of allele a:
The Hardy-Weinb erg equation can be
expressed in terms of what is known as a
binomial expansion:
}

p2

p+ q=1
+ 2pq + q2 = 1

For the first equation, if allele A has a

frequency of say 46%, then allele a must have
a frequency of 54% to maintain 100% in the
population.

For the latter equation, a monohybrid Punnett

square will prove its validity.
Set up the Punnett square so that two
organisms with genotype pq (or Aa) are
mated.

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To make things easier, convert pp and qq to p2

and q2 (elementary algebra, p*p = p2).
If the results are added, the equation p2 + pq +
pq + q2 = 1 emerges.
By simplifying, it is p2 + 2pq + q2 = 1.

The Punnett square results in pp, pq, pq, and

qq.
Because these are probabilities for genotypes,
each square has a 25% chance.
This means that all four should equal 100%, or
one.

Sample problem 01
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If black jaguars

are homozygous recessiv e for b (i.e. are bb)

& spotted jaguars are either
homozygous dominant BB

or heterozygous Bb,
we can calculate the
allele frequencies of the 2 alleles.

Consider a population of 100 jaguars, with 84

spotted & 16 black jaguars. The frequencies
are 0.84 & 0.16.
Based on these phenotypic frequencies, can
we deduce the underlying frequencies of
genotypes ?

Let
&

q = frequency of b allele.
2
2
2

} (p+q)
}

p = frequency of B allele

= p + 2pq + q

where
p2 = individuals homozygous for B
pq = heterozygotes with Bb
q2 = bb homozygotes

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If

q2 = 0.16 (frequency of black jaguars), then

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q = 0.4 (because 0.16 = 0.4)

Therefore,
p, the frequency of allele B,

would be 0.6 (because 1.0 0.4 = 0.6).

Sample problem 02
}

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In 1986, Henry Horn counted 133 Gray

Squirrels & 25 Black Squirrels (16% Black)
at Princeton University.
In 1994, he counted 43 Gray Squirrels
& 9 Black Squirrels (17% Black).
This indicates that the ratio of Gray : Black
squirrels may be in Hardy-Weinberg
equilibrium.

Therefore, the frequency of the dominant

allele (for Black) = 1 0.91 = 0.09
Thus, black individuals that are homozygous
dominants (BB) = p 2 = 0.09 * 0.09 = 0.0081
(=0.08% of the population).
The black individuals that are heterozygotes
(Bb) are 2pq = 2 * 0.09 * 0.91 = 0.162
(= 16.2% of the population)

The genotype frequencies can be calculated:

There are
p2 = (0.6) 2 X 100 (number of jaguars in
population)
= 36 homozygous dominant (BB)
individuals
The heterozygous individuals (Bb)
= 2pq
= (2 * 0.6 * 0.4) * 100
= 48 heterozygous Bb individuals

Assuming that the gene for the black morph

is autosomal dominant (not sex-linked) what
are the gene frequencies in the population ?
Black squirrels, which could be Black
homozygotes (BB) or black heterozygotes
(Bb) = 0.17 of the population in 1994
Thus, the proportion of gray recessives (bb)
in the population is q 2 = 1 0.17 = 0.83 (or
83%)
q = 0.83 = 0.91 (or 91%) of the genes in
this gene pool

83% homozygous (recessive) gray

16.2% heterozygous black
0.08% homozygous (dominant) black
This example shows that dominants
can be less common than recessives &
that there is no evidence that the
dominant character will eliminate the
recessive.

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The allele for cystic fibrosis is present in

Caucasians at a frequency q of 22 per 1000
individuals (= 0.022)
What proportion of Caucasians is expected to
express this trait ?
The frequency of double recessives (q 2) is 0.022
* 0.022 = 0.000484, or approx. 1 in every 2000
individuals.

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What proportion is expected to be heterozygous

carriers ?
If the frequency of the recessive allele q is 0.022,
then the frequency of the dominant allele p is 1
0.022 = 0.978
The frequency of heterozygous individuals (2pq)
is 2 * 0.978 * 0.022 = 0.043, or 43 people in
every 1000

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In a large population mating at random and

in the absence of other forces that would
change the proportions of the different alleles
at a given locus, the process of sexual
reproduction (meiosis and fertilization) alone
will not change these proportions.

The Hardy-Weinb erg principle establishes a

convenient baseline against which to measure
such changes

By examining how various factors alter the

proportions of homozygotes and heterozygotes,
we can identify the forces affecting the particular
situation we study.

According to the Hardy-Weinb erg principle,

allele and genotype frequencies will remain the
same from generation to generation in a large,
random mating population IF no mutation, no
gene flow and no selection occur.
In fact, allele frequencies often change in
natural populations, with some alleles
increasing in frequency and others decreasing.

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Winterer, J. 2001. A lab exercise explaining

Hardy-Weinb erg equilibriu m and evolution
effectively. American Biology Teacher
63:678-687.
http://www.wood ro w.org/t eac h ers /b i/ 19 94 /f
ind.html
http://www.wood ro w.org/t eac h ers /b i/ 19 94 /
hwintro.html