IB 3 Hardy-Weinberg

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Measuring Evolution within Populations

5 agents of evolutionary change

Mutation Gene Flow Non-random mating

Chemical

Changes to DNA

Genetic Drift

Migration

Selection

Sexual Selection

Small population

Natural Selection

Differential Survival

Hardy-Weinberg Equilibrium

Hypothetical situation

◦ Serves as a null hypothesis

A non-evolving population

◦ Remove all agents of evolutionary change

◦ 1. No genetic drift (a very large population)

◦ 2. No gene flow (no migration in or out)

◦ 3. No mutation (no chemical change to DNA)

◦ 4. Random mating (no sexual selection)

◦ 5. No natural selection (equal survival)

Hardy-Weinberg Equations

If the previous conditions are met, then … p 2 + 2pq + q 2 = 1 p + q = 1 p = frequency of dominant allele (B) q = frequency of recessive allele (b) p 2 = % of homozygous dominant individuals (BB) q 2 = % of homozygous recessive individuals (bb)

2pq = % of heterozygous individuals (Bb)

Hardy-Weinberg Equations p 2 + 2pq + q 2 = 1 p + q = 1

Cystic fibrosis is a recessive condition (cc) that affects 1 in

2,500 babies in the Caucasion population in the U.S.

What is the frequency of the recessive allele?

q 2 = 1/2500 = 0.0004

q = √0.0004 = 0.02 (or 2%)

Hardy-Weinberg Equations p 2 + 2pq + q 2 = 1 p + q = 1

Cystic fibrosis is a recessive condition (cc) that affects 1 in

2,500 babies in the Caucasion population in the U.S.

What is the frequency of the dominant allele?

p = 1 - q p = 1 - 0.02 = .98 (or 98%)

Hardy-Weinberg Equations p 2 + 2pq + q 2 = 1 p + q = 1

Cystic fibrosis is a recessive condition (cc) that affects 1 in

2,500 babies in the Caucasion population in the U.S.

What is the percentage of heterozygotes in the population?

2pq = 2(.98)(.02) = 0.04 (or 4% … or 1 in 25)

Example of strong selective pressure

Tay Sachs

◦ Primarily in Ashkenazi Jews and Cajuns

◦ Recessive disease = aa

◦ Lysosomal storage disease

◦ Lack of 1 functional digestive enzyme in lysosome

◦ Build up undigested fat in brain cells

◦ Children die before the age of 5

So where do new cases of

Tay-Sachs come from?

Example of heterozygote advanage

Sickle Cell Anemia

◦ Inherit a mutation in gene coding for one of the subunits in hemoglobin

◦ Oxygen-carrying blood protein

◦ Normal allele = H b

◦ Sickle allele = H s

◦ Recessive trait = H s H s

◦ Low oxygen levels cause RBC to sickle

◦ Clogs small blood vessels

◦ Damages organs

◦ Often lethal

Sickle Cell Frequency

High frequency of heterozygotes

1 in 5 in Central Africans = H b H s

Unusual for individuals with homozygous recessive genotype

◦ 1 in 100 = H s H s

◦ Usually die before reproductive age

Why is the H s allele maintained at such high levels in African populations?

Suggests some selective advantage of being heterozygous… H b H s

Malaria

1 liver

2

3

Single-celled eukaryote parasite

(Plasmodium) spends part of its life cycle in red blood cells

Heterozygote advantage

In tropical Africa where malaria is common:

◦ Homozygous dominant (normal)

◦ Reduced survival or reproduction due to malaria (H b H b )

◦ Homozygous recessive

◦ Reduced survival or reproduction due to sickle cell disease (H s H s )

◦ Heterozygote carriers

◦ Survival & reproductive advantage (H b H s )

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