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Credit: K. Foglia and K.

Riedell

Gene Flow

Mutation

Genetic Drift

Non-random mating

Selection

Things to understand
A population is a localized group of interbreeding

individuals.
A gene pool is the collection of alleles in the
population.
Make sure you remember the difference between genes
and alleles!

Allele frequency is how common the allele is in

the population.
How many A vs. a in the entire population.

Evolution = change in allele frequencies in a


population.
Hypothetical: what conditions would cause allele

frequencies to not change?


Non-evolving population
Remove ALL agents of evolutionary change.
1.
2.
3.
4.
5.

Very large population size (no genetic drift)


No migration (no gene flow in or out)
No mutation (no genetic change)
Random mating (no sexual selection)
No natural selection (everyone is equally fit)

Hypothetical, non-evolving population


Preserves allele frequencies (A vs. a)

Serves as a model (null hypothesis)


Only rarely are natural populations in H-W equilibrium
Useful model to measure if forces are acting on a

population
Used to measure evolutionary change!

G.H. Hardy
mathematician

W. Weinberg
physician

We will be counting alleles


Assume 2 alleles = B, b
Frequency of dominant allele (B) = p
Frequency of recessive allele (b) = q
Frequencies must add to 1 (100%), so:

p+q=1

Counting individuals
Frequency of homozygous dominant: p x p = p2
Frequency of homozygous recessive: q x q = q2
Frequency of heterozygotes: (p x q) + (p x q) = 2pq
Frequencies of all individuals must add up to 1 (100%), so:

p2 + 2pq + q2 = 1

Alleles:
p+q= 1

B
b
BB Bb

Bb

Individuals:
p2 + 2pq + q2 = 1

BB

Bb

bb

bb

population:
100 cats
84 black, 16 white
How many of each
genotype?
p2=.36

q2 (bb): 16/100 = .16


q (b): .16 = 0.4
p (B): 1 - 0.4 = 0.6
2pq=.48

q2=.16

Must assume population is in H-W equilibrium!

p2=.36

Assuming
H-W equilibrium

2pq=.48

q2=.16

BB

Bb

bb

p2=.20
=.74
BB

2pq=.64
2pq=.10
Bb

q2=.16
bb

Null hypothesis

Sampled data
How do you
explain the data?

Sickle cell anemia


inherit a mutation in gene coding for hemoglobin
oxygen-carrying blood protein
recessive allele = HsHs
normal allele = Hb

low oxygen levels causes

RBC to sickle
breakdown of RBC
clogging small blood vessels
damage to organs

often lethal

High frequency of heterozygotes


1 in 5 in Central Africans = HbHs
unusual for allele with severe

detrimental effects in homozygotes


1 in 100 = HsHs
usually die before reproductive age

Why is the Hs allele maintained at such high levels


in African populations?

Suggests some selective advantage of being


heterozygous

Single-celled eukaryote parasite (Plasmodium)


spends part of its life cycle in red blood cells

In tropical Africa, where malaria is common:


homozygous dominant (normal) die of malaria: HbHb
homozygous recessive die of sickle cell anemia: HsHs
heterozygote carriers are relatively free of both: HbHs

survive more, more common in population


Hypothesis:
In malaria-infected
cells, the O2 level is
lowered enough to
cause sickling which
kills the cell & destroys
the parasite.
Frequency of sickle cell allele &
distribution of malaria

Black (b) is recessive


to white (B)

Bb and BB pigs look alike


so cant tell their alleles by observing their phenotype.
ALWAYS START WITH RECESSIVE alleles.
p= dominant allele
q = recessive allele
4/16 are black.
So bb or q2 = 4/16 or 0.25

q=

0.25 = 0.5

http://www.phschool.com/science/biology_place/labbench/lab8/samprob1.html

Once you know q


you can figure out p
... p+q=1
p+q=1

p + 0.5 = 1
p = 0.5
Now you know the allele frequencies.
The frequency of the recessive (b) allele q = 0.5
The frequency of the dominant (B) allele p = 0.5

You know pp from problem


bb or q2 = 4/16 = 0.25
BB or p2 = (0.5)2 = 0.25
Bb = 2pq = 2 (0.5) (0.5) = 0.5

25% of population are bb


25% of population are BB
50% of population are Bb
http://www.phschool.com/science/biology_place/labbench/lab8/samprob1.html

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


dominant over the color white (b). And, 40% of all
butterflies are white.
q2 = 0.4
q=

0.4

= 0.6324

p = 1 - 0.6324 = 0.3676

aa = 0.4 = 40%
Aa = 2 (0.632) (0.368) = 0.465 =46.5%
AA = (0.3676) (0.3676) = .135 = 13.5%
Image from: BIOLOGY by Miller and Levine; Prentice Hall Publishing 2006

1 in 1700 US Caucasian newborns have cystic


fibrosis. C for normal is dominant over c for
cystic fibrosis.
Calculate the allele frequencies for
C and c in the population

Image from: BIOLOGY by Miller and Levine; Prentice Hall Publishing 2006

1/1700 have cystic fibrosis


q2 = 1/1700
q=

0.00059

q = 0.024

p = 1 0.024 = 0.976
Frequency of C = 97.6%
Frequency of c = 2.4%
NOW FIND THE GENOTYPIC FREQUENCIES

CC or p2 = (0.976)2

.953

Cc or 2pq = 2 (0.976) (0.024) = 0.0468


cc = 1/1700 = 0.00059
CC = 95.3% of population
Cc = 4.68% of population
cc = .06% of population

Now you can answer questions about the population:

How many people in this population are heterozygous?


0.0468 (1700) = 79.5 ~ 80 people are Cc

It has been found that a carrier is better able to survive


diseases with severe diarrhea. What would happen to the
frequency of the "c" if there was a epidemic of cholera or
other type of diarrhea producing disease?
Cc more likely to survive than CC.
c will increase in population

The gene for albinism is known to be a recessive allele.


In Michigan, 9 people in a sample of 10,000 were found to
have albino phenotypes. The other 9,991 had skin
pigmentation normal for their ethnic group.

Assuming hardy-Weinberg equilibrium, what is the allele


frequency for the dominant pigmentation allele in this
population?
q2 = 9/10000
q=

0.0009

q = 0.03

p = 1 0.03= 0.97
Frequency of C = 97%
Frequency of c = 3%

CC or q2 = (0.976)2

.953

Cc or 2pq = 2 (0.976) (0.024) = 0.0468


cc = 1/1700 = 0.00059
CC = 95.3% of population
Cc = 4.68% of population
cc = .06% of population

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