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HELENP EE Evolution and Natural Selection > EE Lecture 3: Genetic Variation > Flashcards

EE Lecture 3: Genetic Variation Flashcards

1
Q

what is the source of variation

A

mutation

recombination

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2
Q

who discovered the structure of DNA

A

rosalind franklin
watson and crick
mauric wilkins

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3
Q

what are nucleotides

A

units of DNA/RNA composed of sugar, a phosphate and one of five bases

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4
Q

which nucleotides are purines

A

adenine and guanine

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5
Q

which nucleotides are pyrimidines

A

thymine

cytosine uracil

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6
Q

which of nucleotides are one ring molecules

A

pyrimidines

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7
Q

which nucleotides are two ring molecules

A

purines

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8
Q

what is an SNP

A

single nucleotide polymorphism

change from one base

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9
Q

what is an INDEL

A

insertion or deletion event

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10
Q

what is a synonymous substitution

A

one that doesnt change amino acid sequence

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11
Q

what is a non synonymous substitution

A

one that does change amino acid sequence

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12
Q

give an example of the effect of mutations on proteins (1)

A

sickle cell disease
glu to val, DNA sub from T to A
Hb:protein expressed n surface of RBC responsible for binding oxygen and carrying it to other tissues

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13
Q

give an example of the effect of mutations on proteins (2)

A

DMD duchenne muscular dystrophy caused by premature stop codon for dystrophin located on X codon

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14
Q

where is dystrophin gene located

A

X chromosome

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15
Q

what does a premature stop codon for dystrophin cause

A

duchene muscular dystrophy

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16
Q

how is duchene muscular dystrophy caused

A

premature stop codon on dystrophin gene on X chromosome

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17
Q

what are symptoms of Duchene Muscular Dystrophy

how many affected

A

severe muscle wasting and
death
effects 1 in every 3500 males

18
Q

how is SCA cause (sickle cell anaemia)

A

base sub of A to T in DNA sequence coding for Hb

causes aa change from glu to val

19
Q

what is aa sequence change that causes SCA

A

glu to val

20
Q

what is an STR mutation

A

Short Tandem Repeat

21
Q

name some DNA functional regions

A

promoter regions

RNA genes

22
Q

give an example of a frameshift mutation

A

Delta 32 mutation - 32 base pair deletion which knocjs out CCR5 gene function
this means that CCR5-Delta 32 homozygotes are resistant to HIV infection as HIV-1 requires CCR5 to gain entry into cells

23
Q

what is a Delta 32 mutation

A

32 base pair deletion which knocks out CCR5 gene function - CCR5 Delta 32 homozygotes are resistant to HIV-1 as HIV1 requires CCR5 to gain entry into cells

24
Q

which transmembrane protein does HIV1 require to gain entry into cells

A

CCR5

25
Q

what is CCR5

A

a transmembrane protein -chemokine receptor type 5 which HIV1 requires to gain entry into cells

26
Q

what is the result of being a CCR5Delta32 homozygoe

A

HIV1 resistant - as HIV requires CCr5 to gain entry into cells

27
Q

what is the neutral theory of molecular evoln

A

evoln occured at similar rates in phylogenies

observed genetic variation is greater than predicted by natural selection

28
Q

is observed genetic variation lesser or greater than predicted by natural selection

A

observed genetic variation is greater than predicted by natural selection

29
Q

what is mutation rate

A

µ

30
Q

how many mutations are there per site per generation

A

2Neµ

31
Q

what is the probability that a new mutation will be fixed

A

1 / 2Ne

32
Q

what is the equation for substitution rate

A

µ = 2Neµ x (1/2Ne)

33
Q

what is word eqtn for substitution rate

A

mutations per site per generation * probability new mutation is fixed

34
Q

at what rate does neutral evoln occur in large and small pops for a given µ

A

natural evoln occurs at the same rate in large and small pops for a given µ

35
Q

which produces more mutations and fixes more mutations, small pops or larger pops

A

smaller pops produce fewer mutations but fix a higher proportion

36
Q

which takes longer to fix mutations, smaller or larger populations

A

larger populations take longer to fix mutations

37
Q

which can hold more variation, smaller or larger pops

A

larger pops can hold more variation

38
Q

when is mutation drift eqbm reached

A

when new mutations balance diversity lost to drift`

39
Q

what is reached when new mutations balance diversity lost to drift

A

mutation drift eqbm

40
Q

what are most mutations

A

selectively neutral

41
Q

what is neutral genetic variation a function of

A

popn size

HELENP EE Evolution and Natural Selection (14 decks)

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