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Phase 1 > IMMS: Week 3 > Flashcards

IMMS: Week 3 Flashcards

1
Q

Describe the process of DNA replication

A
  1. Topoisomerase unwinds DNA and DNA helicase separates DNA apart to expose two single DNA strands and create two replication forks. DNA replication takes place simultaneously at each fork.
  2. SSB’s coat the single DNA strands to prevent re-annealing or ‘snap back together’
  3. The primate enzyme then uses the original DNA sequence on the parent strand to synthesise a short RNA primer.
  4. DNA Polymerase begins to synthesise a new DNA (via complementary base pairing using free floating nucleotides) strand by extending an RNA primer in the 5’ to 3’ direction. Each parental strand is copied by one DNA polymerase
  5. As replication proceeds, RNAse H recognises RNA primers bound to the DNA template and removes the primers by hydrolyzing the RNA.
  6. DNA polymerase can then fill the gap left by RNAse H.
  7. DNA replication process completed when the ligase enzyme joins the short DNA pieces together into one continuous strand.
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2
Q

What are okazaki fragments

A

The short pieces of DNA that need to be joined together to form one continuous strand.

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3
Q

DNA vs RNA

A
  • DNA is double stranded with a complementary chain. RNA is single-stranded
  • RNA contains uracil as a base instead of thymine
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4
Q

Name the three types of RNA

A
  • mRNA
  • rRNA
  • tRNA
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5
Q

Role fo mRNA

A

Conveys genetic information that will be translate into a protein

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6
Q

Role of tRNA

A

Delivers amino acids to RER during translation

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7
Q

Role of rRNA

A

Catalyses the formation of peptide bonds between the amino acids during translation.

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8
Q

Describe the process of transcription

A
  1. Transcription factors find their way to specific sequences on the 5 on the 5’ on the first exon - the promotor
  2. A ‘transcription complex’ forms around the TATA box (thymine,adenine, thymine, adenine) on the 5’ of the first exon.
  3. Topoisomerase unwinds the double helix by relieving the supercoils. DNA helicase then separates the DNA apart exposing the nucleotides. SSB’s coat the single DNA strands to prevent DNA re-annealing.
  4. Free mRNA nucleotides line up next to their complementary bases on the template strand/antisense strand of the DNA (U-T + C-G)
  5. RNA polymerase 2 joins the mRNA nucleotides to form antiparallel mRNA strands (5’ to 3’ remember) starting at the promoter.
  6. mRNA leaves the nucleus and attaches to an 80s ribosome.
  7. At the ribosome the mRNA sequence is used as a template to bind to complementary tRNA molecules at their anticodons (3 bases complementary to codon on mRNA).
  8. Ribosome reads mRNA codon by codon and amino acids are brought in by specific tRNA molecules
  9. Enzymes remove amino acid from tRNA and amino acids are linked together by a peptide bone creating a polypeptide chain - a protein
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9
Q

What are the stop codons in RNA

A

UAG
UAA
UGA

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10
Q

What part of the tRNA molecule carries the amino acid

A

its 3’

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11
Q

How are bases read

A

5’ to 3’

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12
Q

Do promotor sites code for proteins

A

No, they only act as binding sites

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13
Q

What part of the DNA are promotor sites found on

A

5’ end.

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14
Q

What is the start codon

A

AUG

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15
Q

Where is mRNA produced

A

Nucleus

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16
Q

How does the ribosome recognise the mRNA

A

from the CAP on the 5’ end.

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17
Q

What are exons

A

Parts of the DNA that will encode a part of the final mature RNA

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18
Q

What are introns

A

Non-coding parts of DNA which are removed from immature mRNA via SPLICING

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19
Q

What is the mRNA primary transcript

A

Single-stranded RNA chain which can then be used to produce tRNA, mRNA or rRNA

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20
Q

How does primary mRNA transcript become mature

A

Splicing

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21
Q

What is exon shuffling

A

This is where new genes are formed as two or more axons from different genes can be brought together to produce a new exon-intron structure

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22
Q

Three characteristics of the genetic code

A

Degenerate but unambiguous - Many amino acids can be coded for by different combinations of triplets but each codon specifies only one amino acid

Almost universal - All organisms use the same code

Non-overlapping and without punctuation - Codons do not overlap and each nucleotide is read once.

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23
Q

How is immunoglobulin production in normal macrophages stopped

A

The gene for producing immunoglobulins is stored as ‘heterochromatin’ so it isn’t being expressed

24
Q

How is immunoglobulin production in normal B cells produced

A

Gene is placed in ‘euchromatin’ state so it can be transcript.

HINT: Eu means euphoric = free

25
Q

What is the difference between euchromatin and heterochromatin

A

Heterochromatin is DENSELY packed

Euchromatin is very lightly packed

26
Q

What molecule stops expression of genes

A

Repressors

27
Q

How do repressors prevent expression of genes

A

Inhibit RNA polymerase binding

28
Q

What is a ‘duplication’ mutation

A

Where genes or parts of a gene or a single base are duplicated

29
Q

What is a deletion of a gene

A

‘out of frame’ deletion - A deletion in an amino acid that causes a frame shift and changes all bases downstream and thus the whole protein

‘in frame’ deletion - Where a CODON is removed (sequence of three bases) which does not alter the sequence of bases downstream (we get a milder disease)

30
Q

What is a mutation of regulatory sequence

A

Coding sequence is intact but a mutation causes the gene to switch off or on

31
Q

What external factors can cause DNA damage

A

Chemicals, UV and radiation

32
Q

What is mismatch repair

A

Repairing insertions, deletions and mis-incorporation of bases during DNA replication

33
Q

What is a mis-sense mutation

A

Where a single nucleotide change results in a codon that codes for a different amino acid (substitution) Which can result in a silent mutation or non-functional protein

34
Q

Name an example of a disease which results from mis-sense mutation

A

Sickle cell disease

35
Q

What is a non-sense mutation

A

Point mutation that produces a stop codon - results in incomplete and non-functional protein

36
Q

What is a splice-site mutation

A

Affects the accurate removal of an intron

Enzyme no longer recognises the sequence so excision of intron does not occur - causes translation of the intron

37
Q

How is huntington’s disease caused

A

Repeat of CAG several times in the FIRST PART OF THE CODING SEQUENCE

38
Q

What is this type of mutation called

A

Expansion of a tai-nucleotide repeat

39
Q

What is the normal range of repeats of a tri-nucleotide in a normal human

A

15-20

40
Q

What is the consequence if a trinucleotide is repeated more than 36 times in the first part of the coding sequence

A

Develop huntington’s and onset of disease is earlier with more repeats

NOTE: less than 36 repeats causes no disease

41
Q

Describe anticipation

A

Repeats get bigger of the tri-nucleotide when transmitted to the next generation resulting in earlier symptoms and greater severity

42
Q

What is the aim of PCR

A

To synthesise fragments of DNA

43
Q

What are primers

A

Short synthetic pieces of DNA that have complementary bases to DNA you are trying to synthesise/amplify

44
Q

How long does one cycle of PCR take

A

5-20 minutes

45
Q

What is homeostasis

A

It is the maintenance of an internal environment within a narrow range

46
Q

Define autocrine

A

Chemical released from a cell into ECF that acts on the cell that produced it

47
Q

Define paracrine

A

Chemical messengers involved in the communication between cells, released into ECF (travel short distances)

48
Q

What is the difference between endocrine and paracrine

A

Hormones travel in the blood in endocrine whilst paracrine chemical messengers only travel in the ECF. Endocrine affects more things and travels further

49
Q

What is a positive feedback loop

A

Amplification of a signal

50
Q

What is the problem with negative feedback loops

A

Can get primary issues - Problems with the endocrine glands

Can get secondary issues - Problem lies with the pituitary or hypothalamus

51
Q

What is a hormone

A

Molecules that act as a chemical messenger

52
Q

Define serous effusion

A

Excess water in a body cavity

53
Q

Define oedema

A

Excess fluid in intracellular tissue space (interstitial)

54
Q

How is lymphatic oedema caused

A

Obstructions by a tumour

55
Q

How is venous oedema caused

A

Due to increased venous pressure or venous obstruction from a thrombus

56
Q

Define hypernatraemia

A

High sodium conc.

Phase 1 (30 decks)

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