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Environmental And Evolutionary Biology > Population Genetics > Flashcards

Population Genetics Flashcards

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0
Q

What was the concept that was used to identify the origin o modern humans?

A

That the highest level of genetic diversity is the oldest population

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1
Q

What is population genetics?

A

The study of genetic principles as they apply to entire an entire population of organisms for the purpose of understanding genetic changes that occur within and among populations

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2
Q

Give examples of how we can examine the genotype using phenotypic methods

A 
Typing of ABO blood groups
Electrophoresis
Single Nucleotide Polymorphism
Restriction fragment length polymorphism
Variable number of tandem repeats
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3
Q

What are problems of analysing genotype via ABO blood groups?

A

It is a non-random sample of genes

There is alot of hidden variation

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4
Q

What are the problems with electrophoresis being used to examine genotype?

A

It is expensive and contains hidden variation

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5
Q

What is restriction length polymorphism?

A

This refers to a difference between samples of homologous DNA molecules that come from differing locations of restriction enzyme sites.

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6
Q

What is variable number of tandem repeats?

A

Uses microsatellite and minisatellite tandem repeat loci

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7
Q

What is a single nucleotide polymorphism test?

A

A DNa sequence variation occurring when a single nucleotide in the genome differs between members of a biological species or paired chromosomes

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8
Q

What is a population?

A

Any group of individuals of the same species living within a sufficiently restricted geographical area that any member can potentially mate with another member

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9
Q

What is the frequency of heterozygotes in a population giving the pq model?

A

2pq

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10
Q

What is the frequency of recessive homozygotes in the pq model?

A

Q^2

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11
Q

What is the frequency of dominant homozygotes in the pq model?

A

P^2

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12
Q

What are common reasons for increasing/decreasing gene frequency?

A 
Consanguinity
Selection
Drift
Migration
Change in the mutation rate
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13
Q

What is the Hardy-Weinberg equilibrium?

A 
The allele and genotype frequencies remain the same generationadfter generation if:
The mating is random
No selection
No mutation
No migration
The population size is infinite
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14
Q

What is demonstrated by using duffy blood group analysis on the populations of iceland and greenland

A

The alleles are heavily weighted due ti distortion from the founders

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15
Q

What is the most common genetic disease in caucasians?

A

Cystic fibrosis

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16
Q

What is fitness?

A

A measure of the ability of an organism with a given genotype to survive and reproduce

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17
Q

What are the two main factors in fitness?

A

Viability-probability to survive to reproductive age

Fetility- mean number of offspring produced by an individual during the reproductive period

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18
Q

Is the dominant allele the most frequent?

A

Not necessarily

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19
Q

What is the selection coefficient?

A

The amount by which fitness has reduced

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20
Q

What are the three main types of selection?

A

Directional
Heterozygote Superiority
Stabilising selection

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21
Q

What does directional selection cause?

A

Population change and evolution by favouring the recessive homozygote

22
Q

What is heterozygote superiority?

A

Where the heterozygote is favoured causing population separation which can lead to a new species

23
Q

What is stabilising selection?

A

It causes populations to stay at their adaptive peak by favouring the dominant homozygote

24
Q

What mechanisms are used to slow evolution?

A

Drug/pest overkill
Withholding the most powerful drugs
Vary selection over time
Screening for resistance

25
Q

What is a selectively neutral substitution?

A

An amino acid substitution which does not seriously affect the function of the proteins

26
Q

What tyoe of selection does sickle cell anaemia cause?

A

Heterozygote superiority

27
Q

What is the rate of substitutions?

A

Exon < intron < intergenic flank < pseudogenes

28
Q

What is the mutation rate in humans per nucleotide per offspring?

A

2.5 x 10 -8

29
Q

What is the number of mutations per offspring in humans?

A

175 new mutations per offspring

30
Q

What is the mutation rate in protein coding sequences for the diploid genome?

A

0.4

31
Q

How many protein coding sequence mutations are harmful?

A

90%

32
Q

What is genetic load?

A

The difference between the fitness of the theoretically optimal genotype in a population and the fitness of the observed average phenotype in a population

33
Q

Where in the genome has the highest amount of mutation?

A

Pseudogenes

34
Q

Do mutations in pseudogenes affect exons?

A

Only when there are huge deletions or insertions which could affect splicing efficiency

35
Q

What is a molecular clock?

A

A method of comparing sequence homology to find when the most recent common ancestor existed

36
Q

What is microevolution?

A

Changes in allele frequency

37
Q

What is macroevolution?

A

Major change in genes relatively rapidly

38
Q

How was the most recent common ancestor of lophotrochozoans, ecdysozoans and deuterostomes identified?

A

Using diversification of the Hox genes

39
Q

What are the Hox genes?

A

A highly conserved region which determines the segmental body plan along the anterior posterior axis in embryonic development

40
Q

What transformations can Hox mutants cause?

A

Extra digits

Change of function of limbs

41
Q

What does inbreeding cause?

A

A steady decline in the frequency of heterozygotes

42
Q

What is the frequency of AA due to inbreeding?

A

p + (Q/4)

43
Q

What is the inbreeding coefficient?

A

The probability that the two genes are identical by descent

44
Q

What is inbreeding depression?

A

The decline in performance resulted from rare recessive alleles becoming homozygous because of inbreeding

45
Q

What is the effective population number?

A

The number of breeding individuals

46
Q

What affect does directional selection have on genetic variation?

A

Reduces

47
Q

What affect does heterozygote superiority have on genetic variation?

A

Increases

48
Q

What affect does stabilising selection have on genetic variation?

A

Reduces

49
Q

What affect does inbreeding have on genetic variation?

A

Reduces

50
Q

What affect does mutation have on variation?

A

Increases

51
Q

What affect does migration have on genetic variation?

A

Increases

52
Q

What affect does genetic drift have on variation?

A

Reduces

53
Q

What affect does the founder effect have on genetic variation?

A

Reduces

Environmental And Evolutionary Biology (7 decks)

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