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Population Genetics
Exam 1
70
Biology
Undergraduate 4
02/01/2011

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Term
What is population genetics? (3 and 3)
Definition
Allele frequencies
Genotype frequencies
Phenotype frequencies
About microevolution
Strongly dependant upon mathematical models
A relatively young science
Term
Factors causing genotype frequency changes (6)
Definition
Natural selection
Mutation
Random drift
Migration
Recombination
Nonrandom mating
Term
Darwin
Definition
Decent with modification

Natural selection

Gemmules?
Term
Blending Theory
Definition
Tall + Short = Medium
Term
Gregor mENDEL (1822 – 1884)
Definition
Developed pure lines
Counted his results and maintained statistical notes
The hereditary determinants are of a discreet or particulate nature. These determinants are called genes.
Term
Mendel's Principle of Segregation
Definition
The factors of inheritance (genes) normally are paired, but are separated or segregated in the formation of gametes (eggs and sperm).
Term
Mendel's Principle of Independent Assortment
Definition
Each factor's distribution in the gametes is not related to the distribution of any other factor.
Term
Mendelian dormancy
Definition
Mendel’s work was overlooked for forty years
Following rediscovery, it was believed that Mendelian inheritance and Darwinian evolution were incompatible.
Term
Biometricians vs. Mendelians
Definition
continuously varying traits and discontinuous variation
Term
The big three (theorists)
Definition
R. A. Fisher (1890 – 1962)

J. B. S. Haldane (1892 – 1964)

Sewall Wright (1889 – 1988)
Term
Quantitative models
Definition
Fisher and Haldane were both strong Darwinians

Wright - Mr. Genetic Drift
Term
Allele
Definition
Different form of a gene
Term
Autosome
Definition
Chromosome inherited equally from both parents
Term
Chromosome
Definition
Long piece of DNA with many genes that assorts independently of genes on other chromosomes
Term
Gene
Definition
Unit of inheritance that is transmitted from parents to offspring
Term
Genome
Definition
Single copy of all the genes in an organism
Term
Haplotype
Definition
The alleles at linked genes on a given copy of a chromosome
Term
Linkage
Definition
Physical proximity of genes on a single chromosome
Term
Linkage disequilibrium (LD)
Definition
The statistical association of alleles at different loci
Term
Locus (loci)
Definition
Place where a particular genes resides in the genome
Term
Map Unit
Definition
Approximately equal to the percentage of recombination between two genese
Term
Maternal Inheritance
Definition
Genes from Mother to daughter
Term
Paternal Inheritance
Definition
Genes from Father to Son
Term
Paternal Inheritance
Definition
Genes from Father to Son
Term
Recombination
Definition
Breaking and joining of chromosomes during meiosis
Term
Allozyme
Definition
Enzyme coded for by a gene that has different allelic forms
Term
cpDNA
Definition
DNA in chloroplast
Term
Degeneracy
Definition
Redundancy in the genetic code where more than one codon specifies a given AA
Term
Exon
Definition
Coding Region of DNA
Term
Intron
Definition
Noncoding region of a gene generally between or next to exons
Term
kb
Definition
10^3 nucleotides
Term
Mb
Definition
10^6 nucleotides
Term
Microsatellite Locus
Definition
Highly variable locus composed of short, tandem repeats (STR) of two to six nucleotides
Term
Multigene family
Definition
group of closely related, often linked, genes
Term
Nonsynonymous
Definition
Nucleotide change that results in an AA change
Term
Synonymous
Definition
Nucleotide base change that doesn't result in AA change
Term
Pseudogenes
Definition
Gene that isn't translated, often because of a stop codon
Term
Pseudogenes
Definition
Gene that isn't translated, often because of a stop codon
Term
Purines
Definition
A/G
Term
Pyrimidines
Definition
C/T
Term
SNP
Definition
Single Nucleotides Polymorphism: nucleotide position that is variable in a population
Term
Transition
Definition
Mutation from one purine to another, or from on pyrimidine to another
Term
Transversion
Definition
Mutation from a purine to a pyrimidine, or from pyrimidine to a purine
Term
What is genetic variation?
Definition
Genetic variation is the variety of alleles and genotypes present in the group under study (population, species or group of species).

Polymorphism
Heterozygosity
Allelic diversity
Term
Genetic Variation
Definition
To understand the influence of:
Selection
Inbreeding
Genetic drift
Gene flow
Mutation
Term
Genetic variation is required for populations to adapt to environmental change.
Definition
measured using an array of molecular and quantitative methods
naturally outbreeding species
populations and species of conservation concern
Term
Changing environments
Definition
Annual weather cycles
Fire regime
Pollution
Pesticide resistance
Exotic species
Global warming
Term
Relationship between genetic variation and reproductive fitness
Definition
Low genetic variation in many species is related to reduced reproduction and survival (reproductive fitness).
Term
Ideal Population
Definition
Even sex ratio
Non-overlapping generations
Random (Poisson) variation in family size
Constant population size (infinite)
Term
Measuring genetic variation
Definition
Quantitative characters
Deleterious alleles
Proteins
Karyotype
DNA sequence
Term
Nuclear DNA
Definition
Martin Kreitman (1986) first extensive sequencing of DNA. Among 11 samples there were 43 variable sites across 2379 bp. Most do not change the AA sequence.
Introns
Exons
Levels of genetic variation in nuclear DNA
Term
mtDNA
Definition
Circular DNA molecules
Maternally inherited
Term
Low genetic diversity in endangered species
Definition
Endangered species usually have lower levels of genetic variation than non-endangered species.
Reduced population size
Effective population size (Ne)
Term
What genetic diversity determines evolutionary potential?
Definition
Quantitative genetic variation for life history traits is the major determinant of evolutionary potential.

However, we have the least amount of information on this form of genetic variation and it is the most difficult to measure.
Term
Variation over space and time
Definition
Spatial variation in genetic composition depends critically on rates of gene flow, population sizes and selection

Large populations typically show negligible change in genetic variation over tens of years.

Conversely, small populations typically lose genetic diversity rapidly over time.

Gst - Nei's coefficient of gene variation
Term
What explains differences in levels of genetic diversity?
Definition
Historical and current population sizes
Population bottlenecks
Breeding system
Natural selection
Different mutation rates
Immigration and emigration among populations
Interactions among the above factors
Term
Genetic differences among species
Definition
The genetic differences among species generally reflects their phylogeny or taxonomic divergence.

Differentiation among bird species is on average less that that among other vertebrate groups.

Species in the genus Drosophila typically show much greater genetic variation than primates currently placed in different taxonomic families.
Term
Sources of Variation
Definition
Mutation
Recombination
Infinite alleles model
Migration
Neutral mutations
Transposable elements
Term
Mutation
Definition
The ultimate source of genetic variation is mutation. Mutations include,
Nucleotide change
Chromosome rearrangement
Inversion
translocation
Term
Irreversible mutation
Definition
A to a at a rate of μ
Initial frequency small if population is large
Initial frequency is 1/2N
Recurrent mutation (mutation pressure)
Term
Reversible mutation
Definition
a to A at a rate of ν
Mutation pressure is in both directions
Term
Probability of fixation of a new allele
Definition
Assumption of an infinite population not realistic
Mutation pressure
Random sampling (over and underestimated alleles)
Term
The infinite-alleles model
Definition
In principle, the number of alleles for any gene could be very large.

Hence, we suppose that that every new mutation creates an allele that does not already exist in the population.

In this model, two alleles that are identical by state must also be identical by descent.
Term
Neutral mutations
Definition
Mutation – new alleles
Drift determines their fate
Term
Linkage and recombination
Definition
Presumed evolutionary benefit of recombination
Recombination and polymorphism
Selective sweep
Hitchhiking
Term
Absence of recombination in mtDNA
Definition
Maternally inherited
Does not recombine
Abundant
15 – 20 thousand bp
Fewer than 40 genes
Term
Migration
Definition
The movement of organisms among subpopulations
One-way migration
The island model of migration
Term
How migration limits genetic divergence
Definition
Estimates of migration rates
Patterns of migration
Term
Transposable elements
Definition
DNA sequence that can change its location
Create novel genome rearrangements
Pairs of transposable element can undergo recombination
Transposase
Term
Transposable elements: Population dynamics
Definition
Rate of infection
Rate of transposition
A mechanism , or combination of mechanisms for eliminating elements from the population.
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