Population and Evolutionary Genetics

The Hardy-Weinberg Law

The unifying concept of population genetics is the Hardy-Weinberg Law

(named after the two scientists who simultaneously discovered the
law). The law predicts how gene frequencies will be transmitted from
generation to generation given a specific set of assumptions.
Specifically,

If an infinitely large, random mating population is free from

outside evolutionaryforces (i.e. mutation, migration and
natural selection),

then the gene frequencies will not change over time and the
frequencies in the next generation will be p2 for the AA
genotype, 2pq for the Aa genotype and q2 for the aa genotype.

Let's examine the assumptions and conclusions in more detail

starting first with the assumptions.

Infinitely large population - No such population actually

exists, but does this necessarily negate the Hardy-Weinberg
Law? NO!! The effect that is of concern is genetic drift.
Genetic drift is a change in gene frequency that is the result of
chance deviation from expected genotypic frequencies. This
is a problem in small population, but is minimal in moderate
sized or larger populations.

Random mating - Random mating refers to matings in a

population that occur in proportion to their genotypic
frequencies. For example, if the genotypic frequencies in a
population are MM=0.83, MN=0.16 and NN=0.01 then we
would expect that 68.9% (0.83 x 0.83 X 100) of the matings
would occur between MM individuals. If a significant
deviation from this expected value occurred, then random
mating did not happen in this population. If significant
deviations occurred in the other matings (for example MM x
MN or MN x NN), again the assumption of random mating will
have been violated.

In humans, at least, for many traits such as blood type,

random mating will occur. Individuals do not consciously
select a mate according to blood type. But for other traits,
such as intelligence or physical stature, this is the case. For
these traits the population is not random mating. But this
does not preclude the analysis of the population for those
traits at which random mating is occurring.

No evolutionary forces affecting the population - These

forces may or may not be at work on a population, and we will
discuss them in more detail later. As with random mating,
some loci may be more affected by these forces. For these
loci this assumption will be violated, whereas at those loci not
affected by these forces this assumption will not be violated.

The two conclusion of the Hardy-Weinberg Law can be

mathematically demonstrated in the following table. If p
equals the frequency of allele A and q is the frequency of
allele a, union of gametes would occur as follows:

p q

p p2 pq

q pq q2

One of the predictions of the Hardy-Weinberg Law refers to

the genotypic frequencies after one generation of random
mating. In the above table the genotypic frequencies for AA is
p^2, the genotypic frequency for Aa is 2pq
and the genotypic
frequency for aa will be q^2. These are the values that are
predicted by the law.
The second prediction is that the frequencies of the two
alleles will remain the same from generation to generation.
The following is a mathematical proof of the second
prediction. To determine the allelic frequency, they can be
derived from the genotypic frequencies as shown above.

p = f(AA) + ½f(Aa) (substitute from the above table)

p = p2 + ½(2pq) (factor out p and divide)

p = p(p + q) (p + q =1; therefore q =1 - p; make this

substitution)

p = p [p + (1 - p)] (subtract and multiply)

p = p

Therefore, gene frequencies do not change in one generation.

Analogous calculations would also show that the frequency of
the a (q) allele would not change in one generation. In
absence of any factors that change the allelic frequencies, the
genotypic and allelic frequencies will remain the same from
generation to generation. These two conclusions have been
demonstrated experimentally to be valid and form the basis
upon which all further population and evolutionary genetics
research is based.

Copyright © 1997. Phillip McClean