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Genetic variation Flashcards

1
Q

Form of variation without mutation?

A

Crossing over

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2
Q

Term for chromosomes after crossing over?

A

Recombinant

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3
Q

Mutations?

A

Heritable changes in genetic material not due to genetic recombination

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4
Q

Can mutations in gametes be passed on?

A

Very small chance but not 0

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5
Q

Point mutations?

A

Changes in single base/small piece of genetic material

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6
Q

Purines?

A

A & G

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7
Q

Pyrimidines?

A

C and T

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8
Q

Transitions?

A

A to G or C to T

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9
Q

Transversion?

A

purine to pyrimidine

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10
Q

Transversions or transitions most common?

A

Transitions

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11
Q

Which quality of the genetic code means some changes don’t alter the amino acid?

A

It is redundant

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12
Q

Highly redundant amino acid?

A

Arginine

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13
Q

Amino acid only coded for by ATG?

A

Methyline

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14
Q

Non-synonymous change?

A

Amino acid changed

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15
Q

Synonymous change?

A

Amino acid doesn’t change

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16
Q

Most likely change?

A

Synonymous

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17
Q

Least likely change?

A

Removal of a start/addition of a stop codon

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18
Q

Mutation with serious consequences for protein?

A

Removal of a start/addition of a stop codon

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19
Q

Do mutations happen more often at synonymous site?

A

No - they’re just more likely to be tolerated & maintained in population at a synonymous site

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20
Q

Do all non-synonymous changes have serious consequences for the protein?

A

Some are minor & can be tolerated

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21
Q

Phenotype for sickle cell anaemia? (4)

A
  • abnormal beta chains
  • haemoglobin stick together & form chains
  • sickle shaped deoxygenated red blood cells
  • reduced life expectancy
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22
Q

Genotype for sickle cell anaemia? (3)

A
  • amino acid 6
  • base position 2
  • GGA to GTA (Glu to Val)
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23
Q

What type of DNA do INDELs typically occur at?

A

Repetitive sections of DNA

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24
Q

Are INDELs common in genomes?

A

Yes

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25
Q

Why are INDELs common in genomes?

A

Only small proportion of genomes genes - repetitive DNA tends not to be in genes

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26
Q

Minisatellites?

A

10 to 15 base pairs in length

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27
Q

Microsatellites?

A

1 to 5 base pairs in length

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28
Q

Genetic fingerprinting? (3)

A
  • sections of DNA that vary in size
  • apply current
  • small sections migrate further in agarose gel than larger
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29
Q

What can genetic fingerprinting be used for?

A

paternity tests, forensics, conservation genetics

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30
Q

Cystic fibrosis phenotype? (3)

A
  • incorrectly folded protein
  • thick, sticky mucus in lungs
  • shortened life expectancy
31
Q

Cystic fibrosis genotype? (4)

A
  • result of different mutations
  • most common deletion of 3 nucleotides in CTFR gene
  • loss of amino acid phenylalanine
  • doesn’t impact rest of chain
32
Q

CTFR gene?

A

cystic fibrosis transmembrane conductance regulator

33
Q

Inversions?

A

sections of DNA broken off & reinserted incorrectly

34
Q

Result of inversions?

A

genes in chromosomes in wrong order

35
Q

Inversions can be induced by…?

36
Q

What can inversions in heterozygotes prevent?

A

crossing over

37
Q

How can inversions prevent crossing over?

A

maternal & paternal alleles can’t align

38
Q

Result of inversions preventing crossing over? (2)

A
  • no recombination, genetic information lost
  • due to accumulation of genetic changes over time, two populations prevented from breeding with each other
39
Q

Problem with gene duplications?

A

not all genes can tolerate extra copies

40
Q

How many transposable elements can be found in a typical genome?

A

Dozens to hundreds

41
Q

How much of eukaryotic genome are transposable elements?

42
Q

How much of human genome are human elements?

43
Q

Two ways in which transposable elements can move?

A

copy - and - paste
cut - and - paste

44
Q

Transposable elements?

A

Copied section of DNA

45
Q

What does ‘mobile’ mean in terms of transposable elements?

A

Can move around genome between generations

46
Q

‘activator’ concerned with transposable elements?

A

can transpose and can move

47
Q

‘dissociator’ concerned with transposable elements?

A

can’t transpose or move

48
Q

Which other aspect can the activator move?

A

the dissociator

49
Q

What does the activator moving the dissociator result in?

A

interrupted molecular pathway of gene, potentially non-functional

50
Q

Can sections of DNA move more than once during development?

51
Q

Purple kernels?

A

No transposition - normal gene expressed

52
Q

Colourless kernels?

A

‘activator’ causes ‘dissociator’ to transpose onto gene

53
Q

Spotted kernels?

A

‘activator’ causes ‘dissociator’ to transpose out of gene in a few cells during development
mutations in some cells reverts to normal gene

54
Q

Do retrotransposons move via copy-and-paste or cut-and-paste?

A

copy-and-paste

55
Q

Transposable elements size?

A

5 to 10 kilabases

56
Q

What can two transposable elements near each other cause when aligning through crossing over?

A

duplication, deletion, inversion if facing each other

57
Q

Do all individuals of a species have the same number of transposable elements?

58
Q

Unequal crossing over?

A

crossing over at the wrong location

59
Q

What can unequal crossing over result from?

A

transposable elements or due to any region of homology causing mistake in pairing

60
Q

Diploid?

61
Q

Tetraploid?

62
Q

Hexaploid?

63
Q

Octaploid?

64
Q

Do species have to be diploid to be considered ‘normal’?

65
Q

Which cells should be haploid?

66
Q

What causes production of diploid gametes?

A

mutation: self-fertilization occurs

67
Q

One way in which tetraploid organisms can be formed?

A

parents with unreduced gametes

68
Q

What can the first generation tetraploid offspring do? (3)

A
  • self-fertilize
  • mate with 4n sibling
  • back cross to parents
69
Q

Backcrossing?

A

mating of offspring with parents or organism genetically similar to parents

70
Q

Protist Oxytricha trifallax? (3)

A
  • 15,600 nanochromosomes
  • 2,000 copies of each chromosome
  • 96% non-coding DNA
71
Q

How many chromosomes does an ant have?

72
Q

Why does a butterfly have so many chromosomes?

A

fallen apart, still maintained in genome as no loss of fitness

73
Q

What increases genetic variation?

A

mutations occurring randomly

Evolution (2 decks)

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