BIOL 1010 Lecture Notes - Lecture 18: Allele Frequency, Genotype Frequency, Zygosity

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3 May 2018
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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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