EXAM 2 Flashcards
founded the field of population genetics
use of mathematical theory and hypothesis testing which are components of scientific inquiry
modern synthesis
Darwin’s postulate 1 restated in population genetics terms
allelic variation exists among individuals
Darwin’s postulate 2 restated in population genetics terms
alleles are passed down from parent to offspring (through meiosis and fertilization)
Darwin’s postulate 3 restated in population genetics terms
more young are born than can survive
Darwin’s postulate 4 restated in population genetics terms
some allelic combinations are more fit than others (these can survive to reproduce more often) based on allelic variants
change in frequency of alleles in a population over generations
new definition of evolution
evolution at the population level, the level at which evolution acts
microevolution
a null model for the behavior of genes in a population, specifies what will happen to frequencies of alleles and genotypes
applies to all diploid sexual organisms
Hardy-Weinberg Equilibrium
group of interbreeding individuals and their offspring
adults produce gametes
gametes combine to make zygotes
zygotes grow up to become next generation of adults
population in HWE
HWE- tracks the fate of _____ across generations in a population
find out if particular alleles become more or less common over time
mendelian genes
imagine 60% of eggs and sperm received allele A and 40% received allele a
frequency of A allele in the gene pool = 0.6, and the a allele= 0.4
when egg and sperm meet what proportion of genotypes will be AA?
60% egg will be A, 60% sperm will be A
0.6 X 0.6 = 0.36
so 36% of zygotes will have genotype AA
imagine 60% of eggs and sperm received allele A and 40% received allele a
frequency of A allele in the gene pool = 0.6, and the a allele= 0.4
when egg and sperm meet what proportion of genotypes will be aa?
0.4 X 0.4 = 0.16
16% will be aa
imagine 60% of eggs and sperm received allele A and 40% received allele a
frequency of A allele in the gene pool = 0.6, and the a allele= 0.4
when egg and sperm meet what proportion of genotypes will be Aa?
0.6 X 0.4 X 2 = 0.48
(Aa = 0.6 X 0.4, aA = 0.4 X 0.6 therefore multiplied by 2)
48% homozygous
what is the trick to know your genotypic frequencies are correct?
they should add up to 1
determine frequencies in the next generation
multiply the heterozygote proportion by 1/2 and add this to the homozygote proportion
if a population is in Hardy Weinberg equilibrium it will never ____ regardless of starting frequencies
evolve
allele frequencies are in equilibrium and are the same as the first generation
numerical example shows what in HWE?
p+q =
1
Frequency of allele A
(AA, AB, BB)
p
Frequency of allele B
(AA, AB, BB)
q
HWE equation 1
p^2 +2pq + q^2 = 1
HWE equation 2
(p+q)^2 = p^2 +2pq+ q^2
individuals homozygous for dominant
p2
individuals heterozygous for both alleles (EX N and n)
2pq
individuals homozygous for recessive
q^2
the allele frequencies in a population will not change generation after generation
conclusion 1 of HWE
if the allele frequencies in a population are given by p and q, the genotype frequencies will be given by p^2, 2pq, and q^2
expected values
conclusion 2 of HWE
there is no selection and all members contribute equally to the gene pool
HWE assumptions 1
there is no mutation
no new alleles are created
HWE assumptions 2
there is no migration
all alleles stay in the gene pool
HWE assumptions 3
there is an infinitely large population size
no random events = no genetic drift
HWE assumptions 4
panmixia
mates are chosen randomly
HWE assumptions 5
allows prediction of genotypic frequencies given allele frequencies
allele and genotypic frequenciess will not change as long as the assumptions are met
why use HWE?
HWE phenotypic example with dominance
polydactyl cats is from an autosomal dominant trait caused by a variant
polydactyl cat example: if a population of 100 cats has 60 polydactl and 40 normal individuals. Then the frequencies of polydacryl and normal phenotypes are:
0.60 and 0.40
by having explicit assumptions (HWE) the violations of assumptions can be used to determine which forces are causing
disequilibrium or evolution
a change in allele frequency over time, allele frequencies do not change in a HWE population and therefore it does not have:
evolution (in terms of HWE)
what happens when assumptions are broken
no selection
no mutation
no migration
large population size
random mating
differential reproductive success
individuals with particular phenotypes survive to reproduce more than others
Cavener and Clegg used two alleles for alcohol dehydrogenase locus (Adhf and Adhs) to break down alcohol at different rates. They maintained two populations of flies spiked with alcohol and two controls without alcohol
determined genotypes at each generation with random samples.
empirical study of drosophila
in the empirical study of drosophila, which populations appeared to be in Hardy Weinberg equilibrium where the alleles did not change
control populations
in the empirical study of drosophilia populations under seletion pressure showed a decline in:
Adhs allele
the populations evolved in the study of drosophila because of selection which favored:
better ability to break down alcohol
allele frequencies do nto change but genotype frequencies cannot be calculated by HWE
conclusion 2 being violated
Pregnant women are more susceptible to malaria
invades the placenta
Causes placental inflammation and usually death of the child
*Influences placenta development and inflammation
*SS and SL produce more of the protein than LL
Malaria season (76 infants SS=16,SL=50,LL=10)
malaria example of selection
test if HWE holds or is broken, how to determine whether the difference between the actual genotype frequencies and HWE expected genotype frequencies is significant
chi-squared test
X^2 = sum (observed – expected)^2 /expected
Chi-squared equation
frequency of allele 20% 1/4 of people with genotype +/+ or +/delta32 die before reproducing
all delta32/delta32 individuals survive
after 40 gens (1000yrs) the delta32 allele is nearly 100%
(graph with an upward slope increase and leveling of at 1.0)
CCR5-delta 32 model 1
frequency of allele 20%
HIV infection rate less than 1%
all delta32/delta 32 individuals survive
after 40 gens (1000yrs) the delta32 allele is still at 20%
selection is too weak to cause a large change in allele frequencies
(graph with a horizontal line at 0.2)
CCR5-delta 32 model 2
frequency of allele 1%
1/4 of people with genotype +/+ or +/delta32 die before reproducing
all delta32/delta32 individuals survive after 40 gens (1000yrs) the delta32 allele is still at 1%
most copies of delta32 would be heterozygotes and hidden from selection
(graph with horizontal line at 0.1)
CCR5-delta 32 model 3
two alleles + and l
individuals with genotype +/+ or +/l are normal
individuals with genotype l/l do not survive
this is a recessive lethal allele
Flour beetle selection example
in the flour beetles with the l locus because they have ____ expect populations to evolve to lower l frequencies
lower fitness
flour beetle selection ex: frequency of allele l dropped as expected but was not eliminated altogether
l frequency over 12 generations
if recessive is common, evolution is rapid
when recessive is rare, evolution is very slow
when rare, the recessive allele is usually hidden from selection- the allele is maintained even if it is negative toward the population
dominance and allele frequency interaction
selection coefficient: fitness of an allele, ranges from 0-1
w
selection coefficient: strength of selection of an allele
gives strength of selection on homozygous recessive phenotype
amount of strength against the phenotype
s
selection in favor of the phenotype
positive S
selection against the phenotype
negative S
w++ = 1 - s, w+l = 1 - s, wll = 1
negative selection on dominant phenotypes
the fixation point of selection, a mechanism of evolution
genetic drift
when one allele is dominant and one is recessive _____ is equal to that of one kind of homozygote
heterozygote fitness
changes rate of evolution
eventually one allele may become fixed and the other is lost
heterozygote fitness is intermediate to two homozygotes
different evolutionary outcomes are produced
heterozygote fitness is superior or inferior to homozygotes
heterozygote has an advantage over homozygote
fitness advantage for homozygote
overdominance
example with drosophila melanogaster
single locus
homozygotes for V allele viable
homozygotes for L allele lethal
initial V allele frequency is 0.5
initial L allele frequency is 0.975
Rate slowed and viable allele reached equilirbium at 0.79
what happens to the lethal allele
lethal should decrease in frequency overtime but not completely disappear
what is present in the drosophila melanogaster example of selection
meaning heterozygotes have higher fitness than either homozygote
this maintains genetic diversity
benefits of heterozygosity outweighs the benefits from the homozygotes
Heterozygote superiority or Overdominance
heterozygotes may have lower fitness than either homozygote
so the homozygote is preferred over heterozygote
under dominance
compound chromosomes
C(2)
normal chromosomes
N(2)
if Wc(2)C(2) how many survive
0.25
if Wc(2)n(2) how many survive
0
if Wn(2)n(2) how many survive
1
reduces genetic diversity within a population by pushing alleles to fixation
heterozygote inferiority
for the second example with fruit flies: Within the population, it is _____ diversity but outside it is ______ diversity
eliminating, maintaining
in this graph: heterozygote has the advantage of fitness increases and moves towards an optimum in the middle- increase diversity, to get the most heterozygotes in a population you need the most mix of alleles
overdominance graph
in this graph: homozygote has the advantage -fitness will increase and reduce diversity
under dominance graph
in nature, selection changes over time this maintains genetic diversity
frequency-dependent selection
fish that attack other fish for food by attacking them from behind grabbing their scales and darting away
perissodus microlepis (scale-eating fish)
left-handed and right-handed determines which side of the fish its mouth will be which allele is dominant and which is recessive
right always attack the left side
left always attack the right side (means for selection depending on preferred side)
right-handed (dominant)
left-handed (recessive)
in frequency-dependent selection, the population is always evolving for a ____ frequency of rarer type because it is a more successful predator and is more fit, leaving more offspring
higher
when one form becomes more popular and common the other decreases- selection and fitness changes
oscillating effect
introduces new alleles into a population, not a potent evolutionary force alone
mutation
model mouse population mutation example: The frequency in the new population is calculated by
calculating how much A is lost
mutation can cause evolution but it usually happens
slowly
____ alone cannot cause great changes in allele frequencies but it is still important in evolution
but
in combination with selection it can be a potent evolutionary force
mutation
studied a strain of E. coli incapable of conjugation, the mutation is the only form of genetic variation
frozen ancestors are compared with the newer generations to see which is better in fitness
fitness and cell size increased in response to natural selection (occurred in jumps)
mutations caused bacteria to divide faster and increase in size
lenski’s E. coli study
when the rate of deleterious alleles being eliminated by selection quals rate of creation by mutation
mutation-selection balance
when mutation is low and selection is high
q hat is low
when mutation is high and selection is low
q hat is high
in the q hat equation for deleterious recessive allele equilibrium m is the ____ and s is the ____
mutation rate, selection coefficient
cystic fibrosis example: CTFR causes chronic lung infection and few individuals survive the disease this is because a ______mutation occurs
loss of function