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Presenter:

Manzanares, Djamae L.
MS Biology - 1
Overview
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
population

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
proportions

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

POPULATION GENETICS
- 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
Mutation
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
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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
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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

p
2
+ 2pq + q
2
= 1
where p
2
= frequency of AA genotype
2pq = frequency of Aa genotype
q
2
= 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%).

Solution:
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

Answer:
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.

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


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
Mutation
Gene Flow
Non random Mating

NATURAL SELECTION
- 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
phenotypes
- Occurs when environmental change favors
an extreme phenotype
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Directional
Selection
Dirsruptive
Selection
Modes of Natural Selection:
Stabilizing Selection
- Favors intermediate over extreme
phenotypes
- Reduces variation and maintains the
current average.
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GENETIC DRIFT
GENETIC DRIFT
- 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
Bottleneck
Founder Effect

Bottleneck Effect

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

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
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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
MUTATION

- 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.

GENE FLOW
GENE FLOW
- 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
population).

- can also occur through hybridization

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

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

- several ways non random mating may
occur:

Assortative Mating
Inbreeding
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
pattern.

- in negative assortative mating
(disassortative mating), individuals with
diverse traits mate more frequently than
what would be expected in random
mating.
Inbreeding
Inbreeding
- 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
individuals
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
Complications
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.
Epistasis
- gene at one locus affects phenotypic
expression of another gene at a second
locus
Linkage
- 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
together.
Linkage
References
Bindon, J. R. 2003. Population genetics. Lecture notes, University of
Alabama. Retrieved last August 15, 2014 from
http://www.as.ua.edu/ant/ bindon/ant270/ lectures/POPGEN.pdf
Barbujani, G., Magagni A., Minch E., and Cavalli-Sforza, L.L. 1997. An
apportionment of human DNA diversity. Proc Natl Acad Sci U S A 94
(9):451619.
Dorak, M. Tevfik. 2005. Basic Population Genetics. Retrieved last August 15,
2014 from http://dorakmt.tripod.com/genetics/popgen.html
Garcia, Cara Lea. Population Genetics. Retrieved last August 15, 2014 from
http://biology.unm.edu/ccouncil/Biology_203/Summaries/PopGen.htm
Griffiths, Anthony J. F., et al. 1998. An introduction to genetic analysis.
6thed. New York: W. H. Freeman.
Hartl, Daniel. 2007. Principles of Population Genetics. Sinauer Associates.
p. 95


References
Harvey, L., Berk, A., Zipursky, S., Matsudaira P., Baltimore, D., and James E.
Darnell. 2000. Molecular cell biology. New York: W. H. Freeman.
McClean, Phillip. 1997. Population and evolutionary genetics. Retrieved
last August 15, 2014 from
http://www.cc.ndsu.nodak.edu/instruct/mcclean/plsc431/popgen/
popgen1.htm
Postlethwalt, John. 2009. Modern Biology. Holt, Rinehart and Winston.
p. 317
Tishkoff, S. A., and Kidd, K.K. 2004. Implications of biogeography of human
populations for race and medicine. Nat Genet Suppl. no. 36 (11):
S21S27.
Thompson, M., McInnes, R., and Willard, H. 1991. Thompson & Thompson
genetics in medicine. 5th ed. Philadelphia: W. B. Saunders.
References
ONLINE LINKS

o Population Genetics
http://www.bio.georgiasouthern.edu/biohome/harvey/lect/lectures.ht
ml?flnm=nsln&ttl=Population%20change%20and%20natural%20selectio
n&ccode=el&mda=prnt
o Albinism: A Sample Hardy-Weinberg Problem
http://anthro.palomar.edu/synthetic/sample.htm
o Sexual Selection
http://necsi.edu/projects/evolution/evolution/sexual%20selection/evol
ution_sexual.html