Midterm Flashcards

(33 cards)

1
Q

Population genetics 2 goals:

A
  • describe the genetic structure of populations
  • hypothesize the evolutionary forces acting on populations
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2
Q

Gene

A

any defined region of the genome

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3
Q

Allele

A

Variation of a gene

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4
Q

Genotype

A

combination of alleles

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5
Q

Haplotype

A

a combined of linked alleles inherited together

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6
Q

Locus

A

position on a chromosome (interchangeable with gene)

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7
Q

Genetic variation:

A

change in allele frequencies overtime

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8
Q

3 sources of genetic variation:

A

Mutations
Gene recombination
Gene flow

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9
Q

Mutations

A

Changes in genes (DNA) or chromosomes

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10
Q

Gene recombination

A

mixing of genes that result from meiosis and sexual reproduction

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11
Q

Gene flow

A

movement and reproduction of individuals ; produces a novel genetic combination (migration)

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12
Q

Point mutations

A
  • most from paternal line
  • 150 mutations for every 3 billion base pairs
  • base sub, insertions, deletions
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13
Q

Changes in chromosomes structure

A
  • inversions, translocations
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14
Q

Changes in Chromosome Number

A

Genome duplications, polyploidy

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15
Q

Subsitution

A

a different base pair from the original sequence to the mutated one

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16
Q

Insertion

A

Extra base pairs in a mutated seq.

17
Q

Deletion

A

deletion of base pairs
- usually not harmful

18
Q

Recombination (chromosome crossover)

A
  • involves the exchange of
    genetic material either between multiple
    chromosomes or between different regions of the
    same chromosome
  • produces genetic variation in organisms that reproduce sexually
  • happens as a result of the separation of genes that occurs during gamete formation in meiosis
    (must happen)
19
Q

Gene flow (migration)

A
  • any movement of individuals and/or the genetic
    material they carry, from one population to another
  • if alleles are carried to a population where those gene versions do not exists, gene flow is a very important source of gene variation
20
Q

Marty Kreitman

A
  • “Nucleotide polymorphism at the
    alcohol dehydrogenase locus of Drosophila
    melanogaster,”
  • first to describe sequence variation in a
    sample of alleles obtained from nature.
  • 1983
21
Q

exons

22
Q

introns

A

gene is removed

23
Q

silent mutation

A

any mutation in the 3rd position in a DNA sequence does not change the protien

24
Q

segregating site (polymorphism)

A
  • A site with different nucleotides in independently
    sampled individuals
25
how many sites are segregating in the ADH sample?
about 1.8 of every 100 sites
26
Comparing alleles: By state? (IBS)
different DNA sequences
27
Comparing alleles: By descent? (IBD)
alleles that share a common ancestor
28
relative frequency
must add to 1
29
5 assumptions of hardy-weinberg
- random mating (includes geography) - large population size (no genetic drift) - no mutation (or negligible) - no migration - no natural selection
30
autosomal
none sex chromosome -autosome pair in a diploid cell have the same morphology
31
what would it mean if a population was not at equillibiurm?
one of the assumptions for HW has been violated - HW cannot work if not in equillibrium
32
what is random mating?
mating where the choice of partner is not influenced by the genotypes
33