Population Genetics Flashcards
__________________ can cause
changes in allele frequency.
Selection, migration, and genetic drift
_______ creates new alleles in a population gene pool.
Mutation
_______ changes population genotype frequency but not allele frequency.
Nonrandom mating
source of variation
mutation and recombination
mechanism of inheritance
segregation of alleles
a consequence of changes in genetic material through mutation and changes in allele frequencies in populations over time
Evolution
union of population genetics with the theory of natural selection
neo-Darwinism
the formation of new species
speciation
Sources of speciation
Natural selection
Mutation
Migration
Drift
______investigate patterns of genetic variation within and among groups of interbreeding individuals
Population geneticists
evolutionary change within populations of a species
Changes in allele frequencies in a population that do not directly result in species formation
microevolution
evolutionary events leading to the emergence of new species and other taxonomic groups
macroevolution
is a group of individuals belonging to the same species that live in a defined geographic area and actually or potentially interbreed
population
The genetic information carried by members of a population constitutes that population’s _____
gene pool
_________ , which ran from 2008 through 2015, was a global effort to identify and catalog at least 95% of the common genetic variations carried by the 7 billion people now inhabiting the planet.
1000 Genomes Project
The 1000 Genomes Project eventually sequenced the genomes of 2504 individuals from 26 populations using a combination of _____
- whole-genome sequencing at low coverage levels
- exome sequencing
- microarray genotyping.
mutations leading to amino acid substitutions are usually detrimental, with only a very small fraction being favorable
neutral theory of molecular evolution
Some mutations are neutral; that is, they are functionally equivalent to the allele they replace
Mutations that are favorable or detrimental are preserved or removed from the population, respectively, by natural selection. However, the frequency of the neutral alleles in a population will be determined by mutation rates and random genetic drift, and not by selection.
The neutral theory nonetheless serves a crucial
function:
It points out that some genetic variation is expected simply as a result of mutation and drift.
describes what happens to allele and genotype frequencies in an “ideal” population that is infinitely large and randomly mating and that is not subject to any evolutionary forces such as mutation, migration, or selection
model that shows the relationship between the relative proportions of alleles in the gene pool and the frequencies of different genotypes in the population
Hardy–Weinberg law
the distribution of genotypes among the zygotes is…
p^2 + 2pq + q^2 = 1
two main predictions of the Hardy-Weinberg model:
- Allele frequencies in our population do not change from one generation to the next.
- After one generation of random mating, genotype frequencies can be predicted from the allele frequencies.
The theoretical population described by the Hardy–Weinberg model is based on the following assumptions:
- Equal survival rates of offspring.
- Absence of selection and mutation.
- Lack of migration.
- Large population size.
- Random mating.
Hardy–Weinberg model can be used to identify the real-world forces that cause allele frequencies to change
The Hardy–Weinberg model has three additional important consequences:
- Dominant traits do not necessarily increase from one generation to the next.
- Genetic variability can be maintained in a population, since, once established in an ideal population, allele frequencies remain unchanged.
- Under Hardy–Weinberg assumptions, knowing the frequency of just one genotype enables us to calculate the frequencies of all other genotypes at that locus.
A small number of individuals who make high-risk choices (such as having unprotected sex with HIV positive partners) never become infected. Some of these individuals are homozygous for a mutant allele of a gene called _______
CCR5 - encodes a protein called the C-C chemokine receptor-5 (CCR5)
______ are cell surface signaling molecules associated with the immune system.
Chemokines
in which chromosome is CCR5 gene found
Chromosome 3
how does the HIV-1 infection resistance in CCR5 gene
32-bp deletion in exon 4 that confers resistance to HIv-1 infection
Hardy-Weinberg formula for 3 alleles
p^2 + q^2 + r^2 + 2pq + 2pr + 2qr = 1
_______ occurs whenever individuals with a particular genotype enjoy an advantage in survival or reproduction over other genotypes
Selection
An individual organism’s genetic contribution to future generations is called its _____
fitness (𝑤)
Types of Selection
- Directional
- Stabilizing
- Disruptive
traits at one end of a spectrum of phenotypes present in the population become selected for or against, usually as a result of changes in the environment.
directional selection
selects for intermediate phenotypes, with those at both extremes being selected against. Over time, this will reduce the phenotypic variance in the population but without a significant shift in the mean.
Stabilizing selection
is selection against intermediate phenotypes and selection for phenotypes at both extremes
Disruptive selection