Population Genetics (4) Flashcards

1
Q

Population genetics?

A

= the study of genetic variation in populations and how it changes overtime.

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2
Q

Population genetics is =…+…? Explain.

A

PG = NS + Genetics
Where:
• NS - individuals in ecosystems with P(fixation) via selection, drift, migration.

• Genetics - molecules in individuals with P(change) via mutation, recombination.

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3
Q

Population?

A

= a localized group of individuals that are capable of inbreeding and producing fertile offspring.

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4
Q

Gene pool?

A

= the total number of genes/alleles present in a population at any time.

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5
Q

What models pop up when talking about Population genetics? (2)

A

• Modern evolutionary synthesis/ Neo Darwinism.
• Hardy-Weinberg principle.

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6
Q

What is the Modern synthesis primarily about?

A

It shows that both mutation & NS caused adaptive evolution in populations.

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7
Q

> = 2 alleles in a population =…? (2)

A

• Homozygotes.
• Heterozygotes.

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8
Q

1 allele in a population = …?

A

Homozygotes only (“fixed” in population).

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9
Q

What do the 3 Mendelian laws tell us?

A

They tell us how alleles are inherited in subsequent generations.

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10
Q

What 2 things do we focus on in Mendelian inheritance?

A

• Diversity.
• Segregation.

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11
Q

What does allele arrangement affect? (2)

A

• Diversity.
• Segregation.

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12
Q

Mendelian laws? (3)

A

• Law of Segregation.
• Law of Independent assortment.
• Law of Dominance.

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13
Q

Law of Segregation?

A

= alleles segregate from each other, so each gamete only carries one allele for each gene.

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14
Q

Eg of Segregation law?

A

Gene in seeds of pea plants exists in 2 forms where one allele is for yellow (Y) seed colour & the other is for green (y) seed colour.

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15
Q

Eg of Independent Assortment law?

A

Drosophila (fruit fly) eye colour & wing curl.

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16
Q

Eg of Dominance law?

A

When pea plants with round seeds (RR) are crossed with plants with wrinkled seeds (rr), all seeds in the next generation were found to be round (Rr).

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17
Q

Effect of the Mendelian laws?

A

All laws affect how alleles are inherited in subsequent generations.

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18
Q

Types of Dominance? (3)

A

• Complete dominance.
• Incomplete dominance.
• Co-dominance.

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19
Q

Complete dominance?

A

= where one allele is dominant over the other such that one cannot distinguish between homozygous dominant & heterozygous when expressed in the phenotype.

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20
Q

In the eg of flower colour, what colours would the flower be in each type of dominance? (3)

A

● Complete dominance.
= Red/Magenta.

● Incomplete dominance.
= Pink.

● Co-dominance.
= Red/Magenta & White (“marbled” phenotype).

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21
Q

How do populations evolve?

A

Through allele frequencies changing over time.

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22
Q

Hardy-Weinberg principle?

A

= states that the genetic variation in a population will remain constant from one generation to the next in the absence of disturbing factors.

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23
Q

Ho & H1 in the Hardy-Weinberg principle?

A
Ho = population genetics.
H1 = evolutionary processes.
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24
Q

What 2 things will remain constant in subsequent generations under the 5 assumptions of the Hardy-Weinberg principle?

A

• Genotype frequency.
• Allele frequency.

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25
Q

In real life/reality, what happens to allele frequency? (2)

A

• It changes over time.
• Does not remain constant.

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26
Q

Why are genotypes formed at a frequency ratio of p²: 2pq: q² ?

A

Random mating.

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27
Q

What are the 2 equations relating to the Hardy-Weinberg principle?

A

● p + q = 1

● p² + 2pq + q² = 1

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28
Q

Application of PG & Selection/ Heterozygotes & Stabilizing selection?

A

Seen in individuals with sickle cell anaemia where such individuals have a heterozygous advantage via Hb^A Hb^S.

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29
Q

Conditions/assumptions for the H-W principle/H-W equilibrium to work? (5)

A

• No NS.
• No mutations.
• Random mating (No SS).
• Infinitely large population so that genetic drift is not prominent.
• No gene flow.

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30
Q

Types of mutations? (4)

A

• Point mutations.
• Indel mutations.
• Aneuploidy.
• Polylpoidy.

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31
Q

Point mutations?

A

= where there are changes in one nucleotide pair of a gene.

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32
Q

The 2 types of point mutations? Explain them.

A

● Synonymous.
= same amino acid produced.

● Non-synonymous.
= different amino acid produced.

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33
Q

Indel mutation?

A

= mutations that involve the insertion or deletion of a portion of the chromosome.

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34
Q

Aneuploidy?

A

= a chromosomal abnormality where one or more chromosomes are present in extra copies or are insufficient in number.

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35
Q

Polyploidy?

A

= when an organism has >2 complete sets of chromosomes in its somatic cells.

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36
Q

The 2 common violations of Random mating?

A

• Assortative mating.
• Inbreeding.

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37
Q

Types of assortative mating? (2)

A

• Positive assortative mating.
• Negative assortative mating.

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38
Q

Eg of Positive assortative mating?

A

Beetles.

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39
Q

Inbreeding?

A

= event where individuals are more likely to mate with relatives than non-relatives.

40
Q

Results of inbreeding? (3)

A

• Decreased variance.
• Increase in frequency of homozygosity.
• Decrease in frequency of heterozygosity.

41
Q

Results/Effects of genetic drift? (3)

A

• Smaller populations are more affected.
• Increased effect as population size decreases.
• Reduces genetic variation over time.

42
Q

Eg of random mating?

A

Coral spawning.

43
Q

Scenarios that increase the prevalence/frequency of genetic drift? (2)

A

• Bottleneck effect.
• Founder effect.

44
Q

Bottleneck effect?

A

= where the parent population is struck by a disaster, few survivors exist & the genes are no longer representative of the original population.

45
Q

Which is genetically poor between the bottleneck effect & the founder effect?

A

Bottleneck effect.

46
Q

Eg of bottleneck effect?

A

Cheetahs.

47
Q

Founder effect?

A

= where few individuals are isolated from a larger population.

48
Q

Egs of How the individuals are isolated on the Founder effect? (3)

A

• A river changes course.
• Seeds are dispersed to a mountain top.
• Birds are blown to a different island.

49
Q

Result of Founder effect in humans?

A

Polydactyly.

50
Q

Gene flow?

A

= the exchange of gametes as individuals move & reproduce.

51
Q

Population genetics = … + … ?

A

PG = NS + Genetics.

52
Q

PG attributes? (4)

A

• Foundation of studying genetics.
• Starts with the Modern (Evolutionary) synthesis.
• Incorporated into evolutionary theory.
• Composed of populations & gene pools.

53
Q

Who developed the evolutionary theory? (3)

A

• Fisher.
• Wright.
• Haldane.

54
Q

Fundamental units of PG? (3)

A

• Homozygous dominant (AA).
• Homozygous recessive (aa).
• Heterozygous (Aa).

55
Q

Law of Segregation attributes? (2)

A

• Deals with alleles.
• Generates a unique combination of alleles.

56
Q

Law of Independent Assortment?

A

= genes for different traits separate independently during gamete formation.

57
Q

Law of Independent assortment attributes? (5)

A

• Generates a different combination of traits.
• Deals with genes, not alleles.
• Increased genetic variation.
• Linkage violates independent assortment law.
• If genes are near each other they’re inherited together.

58
Q

What violates the Law of Independent assortment?

A

Linkage.

59
Q

How does linkage violates the Law of Independent assortment?

A

Through linked genes not being able to separate from each other.

60
Q

Law of Dominance?

A

= where one allele is expressed more strongly than the other allele.

61
Q

Law of Dominance attributes? (2)

A

• Interactions between alleles.
• More of a principle.

62
Q

Incomplete dominance?

A

= where an intermediate of the 2 alleles is observed in the phenotype.

63
Q

Co-dominance?

A

= where each parental phenotype is expressed in the offspring (co-expression).

64
Q

Incomplete dominance is AKA?

A

Partial dominance.

65
Q

How do we know if a population is evolving?

A

We test for evolutionary processes by observing individuals in generations over time.

66
Q

How do we test for evolutionary processes?

A

We use the Hardy-Weinberg principle.

67
Q

Hardy-Weinberg principle origins/background? (2)

A

• Developed independently.
• Developed by mathematicians with little understanding of biology.

68
Q

Hardy-Weinberg principle in a nutshell?

A

= describes a hypothetical population that is not evolving.

69
Q

Hardy-Weinberg principle attributes? (4)

A

• Termed “H-W Equilibrium “.
• Ho is in PG.
• H1 are evolutionary processes.
• In a real population, allele & genotype frequencies change over time.

70
Q

H-W principle in terms of equations? (2)

A

• Given either genotype frequency or allele frequency, you can predict the next generation if a population is not evolving.

• Can be extended to >= 3 alleles.

71
Q

Elaborate symbols behind equation:

p² + 2pq + q² = 1

A

p² = Homozygous dominant genotype.2pq = Heterozygous genotype.
q² = Homozygous recessive genotype.

72
Q

Elaborate symbols behind equation:

p + q = 1

A

p = frequency of dominant allele (A).
q = frequency of recessive allele (a).

73
Q

p² + 2pq + q² = 1 represents what?

A

Genotype frequencies.

74
Q

p + q = 1 represents what?

A

Allele frequencies.

75
Q

When will the original frequency remain constant?

A

If the 5 assumptions are upheld/met.

76
Q

Evolutionary processes affecting evolution? (5)

A

• NS.
• Mutations.
• Non-random mating.
• Genetic drift.
• Gene flow.

77
Q

Why aren’t we all X-folks?

A

It’s because mutations are often deleterious & not fixed in populations.

78
Q

Eg of Assortative mating?

A

Blister beetles
- mate with partners of the same size.

79
Q

Law associated with Assortative mating?

A

The Greenbeard Effect.

80
Q

Positive Assortative mating?

A

= similar individuals mating.

81
Q

Negative Assortative mating?

A

= unlike individuals mating.

82
Q

Eg of Negative assortative mating?

A

Moths.

83
Q

Egs of Non-random mating? (2)

A

• Assortative mating.
• Inbreeding.

84
Q

Bottleneck effect attributes? (3)

A

• Some alleles would be over-represented or under-represented.
• Results in a genetically poor population.
• Results in inbreeding.

85
Q

Results of Bottleneck effect? (2)

A

• Genetically poor population.
• Inbreeding.

86
Q

How are Chertahs an eg of Bottleneck effect? (3)

A

• Experienced 2 disasters.
• Low genetic variation between Southern Africa & Eastern Africa cheetahs.
• Have low sperm count & morphological abnormalities.

87
Q

Founder effect attributes? (2)

A

• New gene pool is not reflective of the source population.
• Founders pass through a “Isolation bottleneck”.

88
Q

Eg of Founder effect in Humans?

A

Armish people.

89
Q

How are Armish people an eg of Founder effect in humans?

A

Through them being an isolated group of German founders.

90
Q

Eg of Founder effect in animals?

A

French snails.

91
Q

How are French snails an eg of Founder effect in animals?

A

Through them arriving at Australia & Rottnest island.

92
Q

Egs of Founder effect? (2)

A

• Armish people (polydactyly).
• French snails.

93
Q

Gene flow attribute?

A

Common process of evolution.

94
Q

How do we evaluate if a population is a HWE? (2)

A

• Compare observed number of genotypes in a population with expected number of genotypes to see if the population was in HWE.

• Use chi² analysis.

95
Q

Why do we use chi² analysis?

A

To test for goodness of fit of Ho (null hypothesis).