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Genetic variation Flashcards

(74 cards)

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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
Why are INDELs common in genomes?
Only small proportion of genomes genes - repetitive DNA tends not to be in genes
26
Minisatellites?
10 to 15 base pairs in length
27
Microsatellites?
1 to 5 base pairs in length
28
Genetic fingerprinting? (3)
- sections of DNA that vary in size - apply current - small sections migrate further in agarose gel than larger
29
What can genetic fingerprinting be used for?
paternity tests, forensics, conservation genetics
30
Cystic fibrosis phenotype? (3)
- incorrectly folded protein - thick, sticky mucus in lungs - shortened life expectancy
31
Cystic fibrosis genotype? (4)
- 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
CTFR gene?
cystic fibrosis transmembrane conductance regulator
33
Inversions?
sections of DNA broken off & reinserted incorrectly
34
Result of inversions?
genes in chromosomes in wrong order
35
Inversions can be induced by...?
radiation
36
What can inversions in heterozygotes prevent?
crossing over
37
How can inversions prevent crossing over?
maternal & paternal alleles can't align
38
Result of inversions preventing crossing over? (2)
- no recombination, genetic information lost - due to accumulation of genetic changes over time, two populations prevented from breeding with each other
39
Problem with gene duplications?
not all genes can tolerate extra copies
40
How many transposable elements can be found in a typical genome?
Dozens to hundreds
41
How much of eukaryotic genome are transposable elements?
up to 90%
42
How much of human genome are human elements?
>50%
43
Two ways in which transposable elements can move?
copy - and - paste cut - and - paste
44
Transposable elements?
Copied section of DNA
45
What does 'mobile' mean in terms of transposable elements?
Can move around genome between generations
46
'activator' concerned with transposable elements?
can transpose and can move
47
'dissociator' concerned with transposable elements?
can't transpose or move
48
Which other aspect can the activator move?
the dissociator
49
What does the activator moving the dissociator result in?
interrupted molecular pathway of gene, potentially non-functional
50
Can sections of DNA move more than once during development?
Yes
51
Purple kernels?
No transposition - normal gene expressed
52
Colourless kernels?
'activator' causes 'dissociator' to transpose onto gene
53
Spotted kernels?
'activator' causes 'dissociator' to transpose out of gene in a few cells during development mutations in some cells reverts to normal gene
54
Do retrotransposons move via copy-and-paste or cut-and-paste?
copy-and-paste
55
Transposable elements size?
5 to 10 kilabases
56
What can two transposable elements near each other cause when aligning through crossing over?
duplication, deletion, inversion if facing each other
57
Do all individuals of a species have the same number of transposable elements?
no
58
Unequal crossing over?
crossing over at the wrong location
59
What can unequal crossing over result from?
transposable elements or due to any region of homology causing mistake in pairing
60
Diploid?
2n
61
Tetraploid?
4n
62
Hexaploid?
6n
63
Octaploid?
8n
64
Do species have to be diploid to be considered 'normal'?
no
65
Which cells should be haploid?
gametes
66
What causes production of diploid gametes?
mutation: self-fertilization occurs
67
One way in which tetraploid organisms can be formed?
parents with unreduced gametes
68
What can the first generation tetraploid offspring do? (3)
- self-fertilize - mate with 4n sibling - back cross to parents
69
Backcrossing?
mating of offspring with parents or organism genetically similar to parents
70
Protist Oxytricha trifallax? (3)
- 15,600 nanochromosomes - 2,000 copies of each chromosome - 96% non-coding DNA
71
How many chromosomes does an ant have?
2
72
Why does a butterfly have so many chromosomes?
fallen apart, still maintained in genome as no loss of fitness
73
What increases genetic variation?
mutations occurring randomly
74

Evolution (2 decks)

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