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module 102: T3 molecular cell biology > DNA and chromosomes > Flashcards

DNA and chromosomes Flashcards

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1
Q

State the 4 parts of the cell cycle

A
  • G1 phase
  • S phase
  • G2 phase
  • M phase
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2
Q

What happens during the M phase

A
  • mitosis (nuclear division)
  • cytokinesis (cytoplasmic divison)
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3
Q

Which phases does mitosis include?

A
  1. prophase
  2. metaphase
  3. anaphase
  4. telophase
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4
Q

What happens during the S phase of the cell cycle?

A

DNA replication

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5
Q

What happens during prophase?

A
  • chromosomes condense
  • mitotic spindles form
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6
Q

What happens during prometaphase?

A
  • nuclear membrane disintegrates
  • spindles attach to kinetochores
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7
Q

What happens during metaphase?

A

chromosomes align at equator

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8
Q

What happens during anaphase?

A
  • sister chromatids seperate
  • pulled towards spindle poles
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9
Q

What happens during telophase?

A
  • chromosomes arrive at poles
  • nuclear envelopes reform
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10
Q

What happens during cytokinesis?

A

cytoplasm divides resulting in two genetically identical cells

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11
Q

What do chemotherapy drugs target?

A

the S and M phases of the cell cycle, which rapidly kills replicating cells

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12
Q

Which direction is DNA synthesised in?

A

5’ to 3’ end

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13
Q

How is he accumulation of mutations prevented ?

A
  • proof reading capacity of DNA polymerase during DNA replication
  • excision repair systems act throughout cell life repairing DNA damage
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14
Q

How do you characterise mutations?

A
  • impact on individual or offspring (somatic or germ line)
  • scale of mutation
    (chromosome or SNP)
  • effect on normal function
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15
Q

Describe what an SNP is?

A
  • single nucleotide polymorphism
  • single base chnage in DNA sequence
  • no change in amino acid sequence
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16
Q

What are monogenic genetic diseases?

A
  • single gene disorders
17
Q

Give the 3 kind of monogenic genetic diseases and examples

A
  • substitution (sickle cell anaemia)
  • deletion (cystic fibrosis)
  • insertion (huntington’s disease)
18
Q

Describe sickle cell anaemia

A
  • single nucleotide substitution in HBB gene (beta chain of haemoglobin)
  • misshapen blood cells do not survive as long and clog capillaries
19
Q

Describe cystic fibrosis

A
  • abnormal mucus un lungs
  • results in lung infections, difficulty breathing, digesting food
  • impaired chloride transport (loss of function)
20
Q

Describe Huntington’s disease

A
  • neurodegenrative disease
  • uncontrollable muscle movements
  • loss of memory and depression
  • difficulties with speech and swallowing
  • damage of nerve cells in areas on the brain
21
Q

What is the cause of Huntington’s disease ?

A
  • caused by increase in number of CAG trinucleotide repeats (encoding glutamine) in the Huntingtin (HTT gene)
  • polyglutamine residues stick together creating a toxic product which causes neuron cell death
22
Q

What is the cause of cystic fibrosis?

A

70% have 3bp deletion in CFTR gene on chr 7 (cystic fibrosis transmembrane conductance regulator)

23
Q

What controls the cell cycle checkpoints and how?

A
  • cyclins
  • protein kinases (cdks)
  • phosphorylation of cdk/cyclin complexes
24
Q

List the steps of DNA replication for the leading strand

A
  1. DNA helicase
  2. DNA primase
  3. DNA polymerase
25
Q

List the steps of DNA replication for the lagging strand

A
  1. DNA primase
  2. DNA polymerase
  3. DNA nuclease
  4. DNA polymerase
  5. DNA ligase
26
Q

Describe Werners syndrome

A
  • premature aging disorder
  • mutation in DNA helicase
  • increased risk of cataracts, atherosclerosis, osteoporosis and cancer
27
Q

What is xeroderma pigmentosum?

A
  • autosomal recessive disorder
  • mutation in UV repair
  • unable to remove thymine dimers
28
Q

What are some symptoms of xeroderma pigmentosum?

A
  • acute sun sensitivity
  • hypo/hyper pigmentation
  • multiple cancers at a young age
  • intellectual disability
  • progressive degradation
29
Q

Is cystic fibrosis a loss or gain of function?

A

loss of function

30
Q

Is sickle cell anaemia a loss or gain of function?

A

loss of function

31
Q

Is Huntington’s disease a loss or gain of function?

A

gain of function

module 102: T3 molecular cell biology (16 decks)

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