Lecture 14 - Population and Evolutionary Genetics

Why Study Population Genetics?

o Population genetics analyzes the distribution of allele frequencies in a population
and how those frequencies change over time
o Evolution is the result of natural selection
o Natural selection is a major force driving allele frequency change
Natural Selection is the mechanism for evolution
o Phenotypic variation exists in a population
o Variation is heritable
o There is competition between individuals for limited resources
o Individuals with adaptive phenotypes will survive and have more offspring
How Does Evolution Work?
o Start with original phenotype, randomized
o Undesirable phenotypes naturally die (thus cant reproduce)
Only ones reproducing are the ones with desirable phenotypes
o Repeat again and again and again and again
o Eventually, the undesirable phenotypes start to disappear
Natural Selection is the Mechanism for Evolution (Genetics-Oriented Version)
o 1) Random mutations cause variations in DNA sequence
o 2) The mutated alleles may be beneficial or detrimental (or neither) to the
individuals survival
o 3) Beneficial mutated alleles are more likely to be passed on to subsequent
generations
o 4) Over many generations, beneficial alleles increase because of the increased

survival and reproduction of organisms carrying these alleles

Natural Selection does NOT select for perfect organisms
o Doesnt just give animals what they need
o Instead, it selects for best-adapted individuals among diversity in the population
that ALREADY EXISTS
Genetic Variation: Raw material for natural selection
o Gene Pool: Genetic variation contained in all individuals of a population
o Variation can be hidden on the phenotypic level
o Populations can contain a high degree of heterozygosity for recessive alleles
o Can measure variations in nucleotide sequence
Populations are Dynamic
o Changes occur through birth, death, migration, etc.
o Microevolution creates changes within a species or even within a population
o How can we study changes in allele and genotype frequencies?

Hardy-Weinberg Principle
o Mathematical model for the relationship between relative proportion of alleles and
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frequencies of different genotypes

Applies when a population is in equilibrium with respect to a specific gene
1) Count the alleles
2) Count the genotypes
Relationship between relative proportion of alleles and frequencies of different

genotypes
o Two predictions from the model:
Frequencies do not change over time
With 2 alleles (A and a) at a locus, after one generation of random mating,

frequencies of genotypes AA:Aa:aa is p2 :2 pq :q2

p = frequency of A, q = frequency of a, p2+ 2 pq+ q2=1
Calculating genotype frequencies from allele frequencies
When there are two alleles, p + q = 1
If frequency of allele A is 0.7, then frequency of allele a is 0.3, and can

calculate genotype frequency

fr ( AA )=( 0.7 ) ( 0.7 ) =0.49

fr ( Aa )= ( 0.7 ) ( 0.3 ) + ( 0.7 ) ( 0.3 )=0.21+ 0.21=0.42

fr ( aa )=( 0.3 )( 0.3 )=0.09

0.49+0.42+0.09=1

o Makes several assumptions

No selection
No alleles are created/converted
No migration
Population is infinitely large
Population mates at random
o Allows us to see when these assumptions are NOT true, e.g. to see effects of
selection
o Thought Process:
1) Find p and q
2) Find genotype frequencies
3) Use Hardy-Weinberg equation for genotypes
4) Use chi-squared test to see relevance
For this type of population,
Degrees of Freedom = k 1 m
o k = # genotypes
o m = # independent allele frequencies

o The Hardy-Weinberg equilibrium fails to apply in the context of:

Natural Selection
Mutation
Migration
Genetic Drift
Nonrandom Mating
o Change in frequency of a lethal allele is exponential decline
Different Types of Selection
o Phenotype is the result of the combined influence of genotype and environment
o Directional Selection
Phenotypes at one end of the spectrum are selected for or against
E.g. with birds, in dry years, they tend to have bigger beaks, but in wet
years, they tend to have smaller beaks
o Stabilizing Selection
Favor intermediate phenotypes
E.g. birth weight: babies with middle weights are favored, extremes die
o Disruptive Selection
Select against the intermediate phenotypes
The extremes (low and high) are favored
Opposite of stabilizing selection
If mutation rate changes, H-W may no longer apply
o Mutations create new alleles in the gene pool
These can be selected for, selected against, or be neutral
If A a mutation rate changes, then alleles A and a may no longer be in
H-W equilibrium
If migration and genetic drift occur, H-W may no longer apply
o Migration can alter allele frequencies
o Founder effect can be result of migration (or simply isolation)
Guevedoces
o Genetic drift in small populations causes random fluctuations in allele frequency
Changes leading to Speciation
o Macroevolution: Reproductive isolation
o Genetic changes can be used to track evolution
o Tracking Human History
The Genographic Project
Tracking Patterns of Human Migration
o Use mitochondrial DNA markers to track maternal lineages
o Use Y chromosome DNA markers to track paternal lineages
o Recombination-free sources of DNA markers