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Objectives
1. Population genetics: Allele frequencies in populations
a. The Hardy Weinberg Principle
b. Exceptions to the HWP: X linked genes, inbreeding
c. A practical application of allelic frequency calculation:
DNA typing
2. Evolution: changes in allele frequency over time
a. Natural Selection
b. Fitness
c. Genetic drift
d. Molecular evolution
Genes (genotype)
and the environment
interact to determine
traits (phenotype)
Coat color in hamsters illustrates the interaction
between genotype and phenotype
• Dominant allele: enzyme for black pigment
• Recessive allele: enzyme for brown pigment
The gene pool comprises all of the alleles in a
population: the hamster example continued
25 hamsters
50 alleles
• 20 of those 50
alleles code for
black coats
• frequency of the
black allele = 20/50
= 0.40 = 40%
NOTE: don’t confuse mendelian
genetics (where punnett squares
are predictive for individuals) with
population genetics, where
predictions rely on observed gene
frequencies.
Evolution is the change of allele frequencies
within a population over time
Frequency of any
homozygous
genotype equals
square of allele
frequency = pi2
Frequency of any
heterozygous
genotype equals 2
product of allele
frequencies = 2pipj
Solved problem #3: the ABO blood group
A. 0.2
B. 0.33
C. 0.5
D. 0.67
E. 0.8
A. 0.2
B. 0.42
C. 0.5
D. 0.7
E. 0.8
Consider 2pq vs q2 as q
becomes smaller and p
becomes larger
An inbreeding pedigree.
Effect of inbreeding on genotype frequencies. The large rectangles on the left
pertain to alleles whose ancestries are not affected by inbreeding.
Inbreeding: Inbreeding Coefficient
Inbreeding coefficient F = (2pq – HI )/2pq, where HI = frequency
of heterozygous genotypes in an inbred population.
F=1→complete inbreeding
Genotype F=0→no inbreeding.
frequencies in
inbred population:
AA: p2(1 – F) + pF
Aa: 2pq(1 – F)
aa: q2(1 – F) + qF
Sewall Wright devised the coefficient of
inbreeding
• F: probability that the two alleles of a given gene in an
individual are identical because they are descended from the
same single copy of the allele in an ancestor.
• If F = 1, all individuals in the population are homozygous, and
both alleles in every individual are derived from the same
ancestral copy.
• If F = 0, no individual has two alleles derived from a common
ancestral copy.
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http://statedclearly.com/videos/what-is-natural-selection/
Increase in frequency of a favored strain of E. coli resulting
from selection in a continuously growing population.
In this example
w (strain B) = 0.96
s = 1 - 0.96 = .04
n= # of generations
Heterozygote Superiority
Heterozygote superiority = fitness of
heterozygote is greater than that of both
homozygote and neither allele can be
eliminated by selection
Rates of evolution of
nucleotide sites differ
according to their function
Molecular Evolution
A gene tree does not always
coincide with a species tree:
The sorting of
polymorphic alleles in
the different lineages
Recombination within
gene make it possible
for different parts of the
same gene to have
different evolutionary
histories