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BSMS 102 > Theme 3 - human genome > Flashcards

Theme 3 - human genome Flashcards

1
Q

what type of chromatin predominates in the nucleus

A

euchromatin

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2
Q

where is ribosomal RNA translated

A

nucleolus

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3
Q

how is information trafficked in and out of the nucleus

A

via pore on the envelope

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4
Q

what are the three functions of DNA

A

encode all information required to make an organism, replicate accurately and must allow for beneficial mutations to be selected (for evolution)

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5
Q

what is the definition of genetics

A

study of heredity - process by which characteristics are passed from parent to offspring

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6
Q

what is a gene

A

unit of biological information that encodes a specific protein or regulatory molecule

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7
Q

what is precision medicine

A

new approach to treatment that takes into account individual variability in genes, environment and lifestyle

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8
Q

when was the first human genome published?

A

2001

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9
Q

how long did first genome sequencing take and how much did it cost

A

13 years and cost 3 billion dollars

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10
Q

how much does genome sequencing now cost and how long does it take

A

takes a few days and costs $5000

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11
Q

how many bases make up DNA and what % of these are repeated sequences?

A

3.2 billion bases and 50% of this is repeated

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12
Q

what % of DNA is protein coding?

A

1.5%

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13
Q

how many genes does the genome contain and how many of these are essential for life?

A

contains 20,000 genes and 300-400 of these are essential for life

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14
Q

what gives genes complexity?

A

spatial and temporal regulation

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15
Q

what % are genes identical?

A

99.9%

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16
Q

how many SNPs do we have in the genome?

A

3 million

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17
Q

around how many disease associated SNPs does each individual have?

A

50-100

18
Q

give two reasons why a SNP may not cause disease?

A

we are diploid and therefore have two copies of each gene or the SNP doesn’t cause change to the protein

19
Q

what is polygenic disease and give an example

A

multifactorial disease eg environment and genes together for example CVD

20
Q

what drug does highly active cyp2C9 affect?

A

warfarin - high levels of cyp2c9 will metabolise warfarin faster

21
Q

what % of prescribed drugs have no effect?

A

40%

22
Q

what three things make up a nucleotide?

A

sugar, phosphate and a base

23
Q

what bonds are made between complementary base pairs?

A

weak hydrogen bonds

24
Q

what is the bonding in the backbone of DNA?

A

strong covalent

25
Q

which type of bond links nucleotides together to make a polar molecule

A

phosphodiester bonds

26
Q

what are the five steps of supercoiling DNA into a mitotic chromosome?

A

2nm short region of DNA, beads on a string chromatin 11nm, chromatin packed into a nucleosome 30nm, chromatin fibres folded into loops 700nm, entire mitotic chromosome 1400nm

27
Q

what state nm state is chromatin in most of the time?

A

30nm

28
Q

what is the first level of DNA folding?

A

DNA folded round core histones to form a nucleosome

29
Q

how many nucleotide pairs of DNA are found in one histone?

A

200

30
Q

what charge to histones have?

A

positive

31
Q

what does the second level of DNA folding require?

A

an extra histone - H1

32
Q

what are the regular histone proteins required for folding

A

H2A, H2B, H3 and H4

33
Q

what histone is required to make the 30nm fibre?

A

H1

34
Q

what two methods regulate condensed chromatin to de condensed chromatin?

A

chromatin remodelling complexes and histone modifying enzymes

35
Q

what are chromatin remodelling complexes dependent on?

A

ATP

36
Q

how do histone modifying enzymes work?

A

they change the structure of the histones by addition or removal of acetyl/phosphate or methyl groups

37
Q

what does supercoiling of the beta globing gene lead to?

A

severe anemia

38
Q

what are heritable changes in gene function that cannot be explained by changes in a DNA sequence?

A

epigenetic

39
Q

how can rubenstein taybi syndrome be characterised?

A

mutation in histone acetyl transferases which leads to non specific symptoms - mental retardation, facial abnormalities, broad thumbs and big toes

40
Q

what is the incidence of rubenstein taybi syndrome?

A

1 in 100,000

BSMS 102 (14 decks)

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