Topic 3 Neutral Theory and DNA variation Flashcards
What is genetic drift
- random changes in allele frequency that occur from generation to generation as a result of sampling effects
What are the 5 assumptions of the Hardy Weinberg principle?
- mating is random
- population of infinite size
- no migration
- no mutation
- no selection
What would happen if these assumptions were true
there would be evolution
What are the 4 forces of evolutionary change
- genetic drift
- gene flow
- mutation
- selection
What are the 5 principles of the Neutral theory
- the probability of fixation of an allele
- the rate of fixation of new alleles
- the time between fixation of new alleles
- the time it takes for a new allele to become fixed
- the amount of diversity in a population
What is the probability of fixation
- the probability P that a neutral allele will eventually reach fixation is equal to its frequency at the time of consideration, p
What is the application of the first principle?
- the probability of a new mutation eventually becoming fixed is P = 1/2N
What is the rate of fixation of new mutations
- the rate at which new mutations are fixed in a population is mu.
What is the time between fixation of new alleles
1/mu (reciprocal of the rate of fixation)
What is the average time to fixation of a new allele
- time to fixation or loss depends on effective population size
- mutations that are destined to become fixed do so in 4Ne generations
- mutations that are destined to be lost are gone in (2Ne/N)ln (2N)
What is Ne
effective population size - an idealized number which is usually smaller than the population count or census size because it only has successful breeders
What is predicted gene diversity
at equilibrium, we can predict heterozygosity (H) as a function of population size and mutation rate: H = 4Nemu/4Nemu + 1
What are some shortcomings of studying genetic variation with electrophoresis
- enzymes have variable functional constraints on their sequence characteristics
- not all proteins are enzymes
- not all amino acids are detectable by electrophoresis
- not all DNA changes cause amino acid changes
- proteins are unstable and difficult to work with
How can we quantifying DNA sequence variation
- useful to quantify variation at the level of nucleotide
- simplest way to calculate the proportion of nucleotide sites that differ in a sample of genes
- pn = S/N
- where S = number of sites that are different, and N = number of sites compared
How can we include the number of sequences that were observed in the sample that pn can’t
- if we account for the number of sequences observed we can obtain an unbiased estimate of the polymorphism per site as theta = pn/a