Hardy-Weinberg principle

also known as theHardy–Weinberg equilibrium,

states that allele and genotype frequencies in a population will remain constant from
generation to generation in the absence of other evolutionary influences. These
influences include mate choice, mutation, selection, genetic drift, gene flow

Example
when a certain phenotype is controlled by two alleles for example fur colour in
certain animals is controlled by two alleles which are B for black colour and b for
white colour, the possible genotypes in this population are BB, Bb, bb

Random union of these gametes (right table) will produce a generation:

• 64% homozygous for BB (0.8 x 0.8 = 0.64)

• 32% Bb heterozygotes (0.8 x 0.2 x 2 = 0.32)
• 4% homozygous (bb) for white coat (0.2 x 0.2 = 0.04)

So 96% of this generation will have black coats; only 4% white coats.

(p+q)2 = p2 + 2pq + q2

• The total number of genes in a population is its gene pool.

• Let p represent the frequency of one allele in the pool and q the frequency of its
single allele.
 • So, p + q = 1
2
o p = the fraction of the population homozygous for p
2
o q = the fraction homozygous for q
o 2pq = the fraction of heterozygotes

• In our example, p = 0.8, q = 0.2, you can apply this in the following equation

(p+q)2 = p2 + 2pq + q2

(0.8 + 0.2)2 = (0.8)2 + 2(0.8)(0.2) + (0.2)2 = 064 + 0.32 + 0.04

q2 = 0.04, so q = 0.2, the frequency of the b allele in the gene pool.

Since p + q = 1, p = 0.8 and allele B makes up 80% of the gene pool.

Because B is completely dominant over b, we cannot distinguish the Bb hamsters

from the BB ones by their phenotype. But substituting in the middle term (2pq) of the
expansion gives the percentage of heterozygous hamsters. 2pq = (2)(0.8)(0.2) = 0.32

Other example
Let us assume a population containing

• 36% homozygous dominants (AA)

• 48% heterozygotes (Aa) and
• 16% homozygous recessives (aa)

The gene frequencies in this population are

p = 0.6 and q = 0.4 (which are square root of36 % and that of 16%)
 Solved examples

Example (1).

You have sampled a population in which you know that the percentage of
the homozygous recessive genotype (aa) is 36%. Using that 36%, calculate
the following:

A. The frequency of the "aa" genotype.

B. The frequency of the "a" allele.
C. The frequency of the "A" allele.
D. The frequencies of the genotypes "AA" and "Aa."
E. The frequencies of the two possible phenotypes if "A" is completely
dominant over "a."

Answer

A-36% (It is given in the question.)

B- 60%

(The frequency of aa is 36%, which means that q2 = 0.36 because the total
population is 1, therefore q = 0.6, Since q equals the frequency of the a allele,
then the frequency is 60%.)

C-40%

(Because q = 0.6, and p + q = 1, therfore p = 0.4; which is equal to 40% of the

total population which is 1).

D- The frequency of AA is 16%

The frequency of Aa is 48%

(The frequency of AA is equal to p2 which is 0.4 x 0.4 = 0.16 , and the

frequency of Aa is equal to 2pq which is 2 x 0.4 x 0.6 = 0.48).
E- The frequency of the dominant phenotype is 64%

The frequency of the recessive phenotype is 36%.

Because "A" is totally dominate over "a", the dominant phenotype will show if
either the homozygous "AA" or heterozygous "Aa" genotypes occur. The
recessive phenotype is controlled by the homozygous aa genotype. Therefore,
the frequency of the dominant phenotype equals the sum of the frequencies of
AA and Aa, and the recessive phenotype is simply the frequency of aa.
Therefore, the dominant frequency is 64% and, in the first part of this question
above, you have already shown that the recessive frequency is 36%.

Example (2).

Sickle-cell anemia is an interesting genetic disease. Normal homozygous

individials (SS) have normal blood cells that are easily infected with the
malarial parasite. Thus, many of these individuals become very ill from the
parasite and many die. Individuals homozygous for the sickle-cell trait (ss)
have red blood cells that readily collapse when deoxygenated. Although
malaria cannot grow in these red blood cells, individuals often die because
of the genetic defect. However, individuals with the heterozygous condition
(Ss) have some sickling of red blood cells, but generally not enough to
cause mortality. In addition, malaria cannot survive well within these
"partially defective" red blood cells. Thus, heterozygotes tend to survive
better than either of the homozygous conditions. If 9% of an African
population is born with a severe form of sickle-cell anemia (ss), what
percentage of the population will be more resistant to malaria because they
are heterozygous (Ss) for the sickle-cell gene?

Answer

42% of the population are heterozygotes (carriers).

From the question ss= 9% =.09 which means that q2 = 0.09. To find q, simply
take the square root of 0.09 to get 0.3.
 Using the equation p +q = 1 you can conclude that p = 1 - 0.3, therefore p
equal 0.7.

The heterozygous individuals which are resistant to malaria are represented

in the formula as pq and in the produced offspring from 2 parents two are
produced heterozygous or you can use the formula

p 2+2pq + q2 = 1, therefore 2pq = 2 (0.7 x 0.3) = 0.42 = 42% of the population

are heterozygotes (carriers).

Example 3
There are 100 students in a class. Ninety-six have the dominant allele F
whereas four have the recessive phenotype . calculate the following:

A-The frequency of the recessive allele.

B-The frequency of the dominant allele.

C-The frequency of heterozygous individuals.

Answer

A. 0.2 (20%).

Since the homozygous recessive for this gene (q2) represents 4% (i.e.
= 0.04), the square root (q) is 0.2 (20%).

B. Since q = 0.2, and p + q = 1, then p = 0.8 (80%).

C. The frequency of heterozygous individuals is equal to 2pq. In this
case, 2pq equals 0.32, which means that the frequency of individuals
heterozygous for this gene is equal to 32% (i.e. 2 (0.8)(0.2) = 0.32).
Example 4

Within a population of butterflies, the color brown (B) is dominant over

the color white (b). And, 40% of all butterflies are white. Given this simple
information, which is something that is very likely to be on an exam,
calculate the following:

A-The percentage of butterflies in the population that are heterozygous.

B-The frequency of homozygous dominant individuals.

Answer

A-0.47

The first thing you'll need to do is obtain p and q. So, since white is
recessive (i.e. bb), and 40% of the butterflies are white, then bb = q2 = 0.4.

To determine q, which is the frequency of the recessive allele in the

population, simply take the square root of q2 which works out to be 0.632
(i.e. 0.632 x 0.632 = 0.4). So, q = 0.63.

Since p + q = 1, then p must be 1 - 0.63 = 0.37

The heterozygous individuals would be 2pq so the answer is 2 (0.37) (0.63)

= 0.47.

B-0.14.

Tthe frequency of homozygous dominant individuals would be p2 or

(0.37)2 = 0.14.

Example 5.

A large population of flowering plants , 396 have red flowers while 557
have white flowers. Assume that red is totally recessive, calculate the
following:

A-The allele frequencies of each allele.

 B-The expected genotype frequencies.

C- The number of heterozygous individuals that you would predict to

be in this population.

D-The expected phenotype frequencies.

Answer

A- if white is represented as p and red is represented as q

The total number of individuals counted is 396 + 557 = 953. So, the
recessive individuals are all red (q2) which is 396/953 = 0.416.
Therefore, q (the square root of q2) is 0.645.

Since p + q = 1, then p must equal 1 - 0.645 = 0.355.

B- AA = p2 = (0.355)2 = 0.126; Aa = 2(p)(q) = 2(0.355)(0.645) = 0.458;

and finally aa = q2 = (0.645)2 = 0.416 (you already knew this from part
A above).

C-2pq= 0.458 x 953 = about 436.

D. The "A" phenotype = 0.126 + 0.458 = 0.584

the "a" phenotype = 0.416 (you already knew this from part A above).

Example 6.
A very large population of randomly-mating laboratory mice contains
35% white mice. White coloring is caused by the double recessive
genotype, "aa". Calculate allelic and genotypic frequencies for this
population.
Answer
35% are white mice, which = 0.35 and represents the frequency of the aa
genotype (or q2). The square root of 0.35 is 0.59, which equals q.

Since p = 1 - q then 1 - 0.59 = 0.41. Now that we know the frequency of

each allele, we can calculate the frequency of the remaining genotypes in
the population (AA and Aa individuals). AA = p2 = 0.41 x 0.41 = 0.17; Aa =
2pq = 2 (0.59) (0.41) = 0.48; and as before aa = q2 = 0.59 x 0.59 = 0.35. If
you add up all these genotype frequencies, they should equal 1.

Example 7.
Cystic fibrosis is a recessive condition that affects about 1 in 2,500 babies
in the Caucasian population of the United States. Please calculate the
following.

A-The frequency of the recessive allele in the population.

Answer: We know from the above that q2 is 1/2,500 or 0.0004.

Therefore, q is the square root, or 0.02. That is the answer to our first
question: the frequency of the cystic fibrosis (recessive) allele in the
population is 0.02 (or 2%).

B-The frequency of the dominant allele in the population.

Answer: The frequency of the dominant (normal) allele in the

population (p) is simply 1 - 0.02 = 0.98 (or 98%).

C-The percentage of heterozygous individuals (carriers) in the

population.

Answer: Since 2pq equals the frequency of heterozygotes or carriers,

then the equation will be as follows: 2pq = (2)(.98)(.02) = 0.04 or 1 in
25 are carriers.