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A BIOL1024 Part 2 > gene therapy > Flashcards

gene therapy Flashcards

1
Q

Define genetic mutations

A

Changes in the nucleotide sequence of the DNA

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2
Q

Name 4 examples of spontaneous mutations

A

Replication error
Tautomerization
Deamination
Depurination

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3
Q

Name 6 examples of induced mutations

A 
Intercalating agents
Base analogues
Deaminating agents
Alkylating agents
Oxidising agent
Radiation
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4
Q

Replication errors
Some repetitive regions cause slippage and insertion of more repeats.
Can this be repaired?

A

NO

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5
Q

What is a replication error

Can it be repaired?

A

Normal replication introduces the wrong base once every 10^10 base pairs
Good chance it will get repaired

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6
Q

What is Tautomerization?

A

DNA bases can convert between forms altering the Hydrogen bonds

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7
Q

The tautomerization example of Amino to Imino is for what bases?

A

A or C

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8
Q

The tautomerization example of Keto to enol is for what bases?

A

G or T

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9
Q

What is deamination?

A

A bases looses an amino group

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10
Q

How many conversions of C to U happen per cell per day?

A

100

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11
Q

How many conversions of A to G happen per cell per day?

A

1

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12
Q

Which deamination can be repaired?

A

C A G can be repaired

T CANNOT BE REPAIRED

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13
Q

Define depurination

A

Cleavage of base-sugar bond on A or G is removed. So in replication the base pair is guessed

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14
Q

How many Purine glycosidic bonds are hydrolysed per cell per day

A

~10,000 purine glycosidic bonds

hydrolyse/cell/day

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15
Q

What are intercalating agents?

A

Insert themselves between bases

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16
Q

What is the results of base analogues?

A

Incorporated into DNA more prone t automeric shifts

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17
Q

What are alkylating agents?

A

Add alkyl groups to nucleobases

18
Q

Name 2 examples of alkylating agents

A

Nitrosamines

Methyl Bromide

19
Q

Can alkylation be repaired?

A

YES

20
Q

What does Alkylation speed up?

A

Depurination

21
Q

What are deaminating agents?

A

Remove amino groups far quicker than spontaneous deamination

22
Q

Name 3 examples of deaminating agents

A

Nitrous acid
Nitrosamine
Nitrate
Nitrite

23
Q

What mutagen causes the most mutations?

A

oxidising agents

24
Q

Name an example of an oxidising agent

A

Superoxide ion O2-

hence H2o2

25
Q

What are inborn errors of mutation?

A 
A class of genetic disease involving altered metabolic function,
eg mutation in a single gene encoding a metabolic enzyme
26
Q

What are 3 types of metabolic disorders

A

Anabolic
catabolic
Storage

27
Q

What type of metabolic disorder is Phenylketonuria?

A

Catabolic

28
Q

Where is the gene mutation to cause Phenylketonuria?

Is it recessive or dominant?

A

Autosome 12

recessive

29
Q

What enzyme is affected by a mutation in the Phenylketonuria?

A

Phenylalanine Hydroxylase

30
Q

What does the phenylketonuria cause?

A

Inability to metabolise the essential amino acid Phenylalanine.
So excess phenyl-ketones in the urine and it builds up in the blood

mental retardation
organ damage
unusal posture

31
Q

What percentages of the classic PKU point mutations are in ____ part of the PAH gene
intron/exon splice site
coding region
promotor

A

40% in intron/exon splice site 20% of mutations in coding region
40% in promoter

32
Q

What is the normal result to increase Phe?

A

PAH enzyme converts Phe to Tyr

33
Q

When does PKU mannifest?

What are the results for the sufferer?

A 
Manifests after birth
1 in 20,000 newborns
5IQ lost /month
Death by 20/30 years
Must be put on low Phe diet
34
Q

How many types of glycogen storage disease?

Is it dominant or recessive

A

14 different types

recessive

35
Q

What is the problem caused by glycogen storage disease

A

Inability to convert glycogen to glucose
Enlarged liver
Hypoglycaemia

36
Q

What are the 4 enzymes involved in glycogen breakdown

A

Glycogen phosphorylase
Glycogen debranching enzyme
Phosphoglucomutase
Glucose 6 Phosphatase

37
Q

What causes Glycogen storage disease 1 - von Gierke disease

A

Phosphorylated glucose produced by glycogen breakdown is not readily transported out of cells

The liver contains glucose 6 phosphatase which cleaves glucose 6 phosphate into free glucose
Glucose 6 phosphatase is deficient in von Gierke disease

38
Q

What causes Glycogen storage disease V - McArdle disease?

Which chromosome is this on?

A

The muscle glycogen phosphorylase is absent.

Myophosphorylase (PYGM) on chromosome 11.

39
Q

How many different mutations in the gene

A

33 different mutations throughout the gene. 1 in 100,000 20/30 yrs old.

40
Q

What are the results of McArdle diease?

A

Muscle weakness and cramps

Ability to perform strenuous exercise is limited

Shows that utilisation of muscle glycogen is not essential for life

41
Q

Can Familial hyperchlestrolaemia be treated?

A

Only the heterozygous form
with statins
Decreased production of LDL cholesterol.

Produces more receptors.

A BIOL1024 Part 2 (18 decks)

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