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Manzanares, Djamae L.
MS Biology - 1
1 Fundamentals
2 The HardyWeinberg Principle
3 Five processes
3.1 Natural selection
3.2 Genetic Drift
3.3 Mutation
3.4 Gene Flow
3.5 Non-random Mating
4 Complications
3.1 Epistasis
3.2 Linkage

Definition of Terms
1. Genetic Population - the sum of gene (or allelic)
frequencies for all the genes represented by that

2. Allele Frequency/Gene Frequency- the proportion of
a particular allele (variant of a gene) among all allele
copies being considered.

3. Gene Pool - set of all genes or genetic information in
any population usually of a particular species.

4. Fitness - the ability to both survive and reproduce
Definition of Terms

5. Linkage Equilibrium populations where combinations of
alleles or genotypes can be found in the expected

6. Linkage Disequilibrium - non-random association of alleles
at two or more loci, that descend from single, ancestral

- is the study of the distributions and changes
of allele frequency in a population, as the
population is subject to the five main
(evolutionary) processes:
Natural Selection
Genetic Drift
Gene Flow
Non-random Mating
- also takes into account the factors of
recombination, population subdivision and
population structure
Hardy Weinberg Principle
Hardy Weinberg Principle
- also known as Hardy Weinberg
equilibrium, model, theorem, law.

- predicts how gene frequencies will be
inherited from generation to generation
given a specific set of assumptions
5 Assumptions of the
H-W Principle:

1. Large population size
- small populations have fluctuations in allele
frequencies (e.g., fire, storm).
2. No migration
- immigrants can change the frequency of an allele
by bringing in new alleles to a population.
3. No net mutations
- if alleles change from one to another, this will
change the frequency of those alleles
5 Assumptions of the
H-W Principle:
4. Random mating
- if certain traits are more desirable, then
individuals with those traits will be selected and
this will not allow for random mixing of alleles.
5. No natural selection
- if some individuals survive and reproduce at a
higher rate than others, then their offspring will
carry those genes and the frequency will change
for the next generation.

Hardy Weinberg Equation
Basic Relations

A = dominant allele
a = recessive allele
p + q = 1
where p = frequency of A allele
q = frequency of a allele

+ 2pq + q
= 1
where p
= frequency of AA genotype
2pq = frequency of Aa genotype
= frequency of aa genotype

Sample Problem:
Albinism is a rare genetically inherited trait
that is only expressed in the phenotype of
homozygous recessive individuals (aa). The most
characteristic symptom is a marked deficiency in
the skin and hair pigment melanin. This condition
can occur among any human group as well as
among other animal species. The average
human frequency of albinism in North America is
only about 1 in 20,000.

Note: p added to q always equals one (100%).

Homozygous recessive individuals (aa) in
a population is q
q = 1/20,000 = .00005
q= .007
Solve for p:
p = 1 - qp = 1 - .007p = .993
Plug the frequencies of p and q into the
Hardy-Weinberg equation:
p + 2pq + q = 1(.993) + 2 (.993)(.007) +
(.007) = 0.986 + .014 + .00005 = 1

p = predicted frequency of homozygous dominant
individuals = .986 = 98.6%
2pq = predicted frequency of heterozygous
individuals = .014 = 1.4%
q = predicted frequency of homozygous recessive
individuals (the albinos) = .00005 = .005%

With a frequency of .005% (about 1 in 20,000), albinos
are extremely rare. However, heterozygous carriers for
this trait, with a predicted frequency of 1.4% (about
1 in 72), are far more common than most people
imagine. There are roughly 278 times more carriers
than albinos. Clearly, though, the vast majority of
humans (98.6%) probably are homozygous dominant
and do not have the albinism allele.

If the only force acting on the population is
random mating, allele frequencies remain
unchanged and genotypic frequencies are

Mendelian genetics implies that genetic
variability can persist indefinitely, unless
other evolutionary forces act to remove it

Five Forces of Evolution
Natural Selection
Genetic Drift
Gene Flow
Non random Mating

- some traits make it more likely for
an organism to survive and reproduce.

- fitness as a propensity or probability of
survival and reproduction in a
particular environment.

Modes of Natural Selection
Directional Selection
Disruptive Selection
Stabilizing Selection

Modes of Natural Selection:
Directional Selection
- Favors individuals at one end of the
phenotypic range
- Most common during times of
environmental change or when moving to
new habitats
Disruptive selection
- Favors extreme over intermediate
- Occurs when environmental change favors
an extreme phenotype
Modes of Natural Selection:
Stabilizing Selection
- Favors intermediate over extreme
- Reduces variation and maintains the
current average.
- change in allele frequencies caused
by random sampling.

- may cause gene variants to
disappear completely, and thereby
reduce genetic variability.

- effect is larger in small populations,
and smaller in large populations
Population Events in
Genetic Drift
Founder Effect

Bottleneck Effect

- the population is vastly reduced in number
(e.g. a hurricane kills most individuals in the

Loss of Genetic Variation

Cheetahs have little genetic variation in their gene pool

This can probably be attributed to a population bottleneck
they experienced around 10,000 years ago, barely avoiding
extinction at the end of the last ice age
Founder Effect

- a few individuals leave the original population and
found a new population (e.g. colonize an island). As
with bottlenecks, the founders are likely not
representative of the original population

- the ultimate source of genetic variation in
the form of new alleles.
- can result in several different types of
change in DNA sequences; these can either
have no effect, alter the product of a gene,
or prevent the gene from functioning.

- occurs when alleles are exchanged
between two populations.

- occurs when individuals migrate (immigrate
or emigrate) and breed in a new
population (contributing their genes to that

- can also occur through hybridization

- increases the variability of the gene pool by
adding new alleles.

- occurs when individuals have mating
preferences rather than randomly
mating with any other individual in the

- several ways non random mating may

Assortative Mating
Sexual Selection

Assortative Mating
Assortative Mating
- individuals with similar genotypes and/or
phenotypes mate with one another
more frequently than what would be
expected under a random mating

- in negative assortative mating
(disassortative mating), individuals with
diverse traits mate more frequently than
what would be expected in random
- the production of offspring from the
mating or breeding of individuals or
organisms that are closely related
genetically, in contrast to outcrossing,
which refers to mating unrelated
Sexual Selection
- some individuals out-reproduce others of
a population because they are better at
securing mates.

- female animals and plants frequently
chose among many possible fathers for
their offspring, selecting the father that
has the best genes or is the best
resource-provider. This increases the
alleles contributing to the favored
phenotype and decreases all
alternative alleles.
Sexual Selection
Basic models of population genetics
consider only one gene locus at a time. In
practice, epistatic and linkage relationsips
between loci may also be important.
- gene at one locus affects phenotypic
expression of another gene at a second
- the tendency of genes or other DNA sequences
at specific loci to be inherited together as a
consequence of their physical proximity on a
single chromosome.

- genes that loci are nearer to each other are less
likely to be separated onto different chromatids
during chromosomal crossover, and are therefore
said to be genetically linked.

- the nearer two genes are on a chromosome, the
lower is the chance of a swap occurring between
them, and the more likely they are to be inherited
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o Population Genetics
o Albinism: A Sample Hardy-Weinberg Problem
o Sexual Selection