BIOL 1010 Lecture Notes - Lecture 18: Allele Frequency, Genotype Frequency, Zygosity
Evolution of Populations
November 6 & 13, 2014
Genetic Variations In and Among Populations
Recall:
An allele is an individual gene variant at a locus.
A genotype is the combination of two alleles in an individual.
Population is a…
• Localized group of interbreeding and interacting individuals
• Each species is made up of one to many populations (that can interbreed when they
meet)
Genetic Variability – how much genetic variability is in a specific population?
• In most species, individuals are heterozygous at many loci
- Typically 2-10% average heterozygosity
Therefore, populations tend to have a lot of genetic variability.
Sex shuffles the variability: individuals have unique combinations of alleles.
Source of Genetic Variation
• New alleles arise by mutation in an existing allele (A single mutation can result in a
new allele).
In a given environment:
• Most mutations don’t meaningfully affect fitness =neutral alleles)
• Some mutations reduce fitness (=harmful alleles) aka. Deleterious
• Very few increase fitness (beneficial alleles)
Note: Alleles can also be introduces to a population from other populations (=gene flow)
The Gene Pool of a Population
• All alleles at all gene loci in all individuals
• Fixed alleles:
o whole population is homozygous at locus
• Polymorphic loci:
o 2 or more alleles in population, each present at some frequency
Microevolution
~Change in the frequencies of different alleles in the gene pool over generations
• At the extreme, change can mean fixation of an allele or loss (extinction) of an
allele
Allele and Genotype Frequencies
Incomplete dominance – when both alleles have impact on the phenotype when in
heterozygous form
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Ex.
ALLELE FREQUENCIES:
# of alleles= # of individuals X 2
= 500 X 2 = 1000
{R}=(320X2 +160)/1000=0.8
{W}= 1 – {R} = 0.2
Hardy-Weinberg Principle
Describes expected relationships between allele and genotype frequencies when there is
no evolution. – under certain assumptions it includes random mating.
Hardy-Weinberg Equation: 2+ + 2=
Ex. Allele frequencies in parents: p =0.8, q=0.2
Expected genotypic frequencies in new generation under Hardy-Weinberg:
RR: 0.64 RW: 0.32 WW:0.04
What are the allele frequencies of the new generation?
p= {RR} +{RW}/2 = 0.8 q= 1 – p = 0.2
**Same as parental allele frequencies
Using the Hardy-Weinberg Principle:
1. Estimating Gene and Allele Frequencies
• E.g. prevalence of carriers (heterozygotes) of recessive genetic disorders
• For example, cystic fibrosis is a single-locus recessive disorder that affects
1 in 2500 people of European descent (frequency is 0.0004)
*can calculate how many people are carriers by using the Hardy-Weinberg
equation.
2. Populations with genotype frequencies that conform to the equation are said to be
in Hardy-Weinberg equilibrium at that locus.
• Look at population genotype frequencies to see if they are truly in Hardy-
Weinberg equilibrium
• For example, is a population of 1000 individuals with 400RR, 200RW and
400WW at equilibrium?
{RR}=0.4
{RW}=0.2
{WW}=0.4
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