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Cell Biology and Genetics > Mutations > Flashcards

Mutations Flashcards

1
Q

What is a mutation?

A

Heritable alteration in gene or chromosome
and
the process that produces the alteration

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2
Q

What are the types of causes of mutations?

A

Exogenous causes

Endogenous causes

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3
Q

What are the types of exogenous causes of mutations?

A

Ionising radiation

Chemicals

Anti-cancer agents

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4
Q

What are the types of endogenous causes of mutations?

A

DNA replication defects

Transposable elements

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5
Q

How are mutations caused?

A

DNA damage

and then defective DNA repair

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6
Q

What are transposable elements?

A

Sections of DNA that can move as one unit to random sites in rest of DNA

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7
Q

Are transposable elements longer or shorter than genes?

A

Longer than genes

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8
Q

Do transposable elements exist in the free form?

A

No

they’re always contained in DNA molecules

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9
Q

Are transoposable elements more likely to move into longer genes or shorter genes?

A

More chance of them moving into longer genes

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10
Q

How can transposable elements cause mutations?

A

Can transpose into genes
disrupt gene
product product is dysfunctional

Can transpose into promoter region of gene
activate gene when it shouldn’t be

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11
Q

How can transposable elements have no effect?

A

If transpose into non-coding sections of DNA

or introns

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12
Q

What are the types of mutations?

A

Micro

Macro

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13
Q

What is the difference between micro and macro mutations?

A

Micro - few bases affeced

Macro - whole areas of chromosomes affected

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14
Q

What are the types of micro mutations?

A

Substitution

Insertion

Deletion

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15
Q

What are the types of macro mutations?

A

Translocation

Inversion

Duplication

Deletion

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16
Q

What are the types of substitution mutations?

A

Transition/transversion

Mis-sense/nonsense/silent/non-stop

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17
Q

What is a transition substitution mutation?

A

Base change to same type of base

  • purine to purine
  • pyrmidine to pyrimidine
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18
Q

What is a transversion substitution mutation?

A

Base change to different type of base

  • purine to pyrimidine
  • pyrimidine to purine
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19
Q

What is a mis-sense substitution mutation?

A

Causes change in amino acid in protein

20
Q

How does a mis-sense substitution mutation affect the polypeptide?

A

Changes conformation of polypeptide

21
Q

What is a non-sense substitution mutation?

A

Creates early stop codon

22
Q

How does a non-sense substitution mutation affect the polypeptide?

A

Polypeptide production stopped prematurely

polypeptide is shorter length

23
Q

What is a silent substitution mutation?

A

Same amino acid coded for

24
Q

How does a silent substitution mutation affect the polypeptide?

A

Has no effect on it

25
Q

What is a non-stop substitution mutation?

A

Stop codon now codes for an amino acid

26
Q

How does a non-stop substitution mutation affect the polypeptide?

A

Polypeptide production carries on

longer polypeptide produced

27
Q

What is an insertion mutation?

A

Addition of a few extra nucleotides into DNA strand

28
Q

What is a deletion mutation?

A

Removal of a few nucleotides from DNA strand

29
Q

What do insertons/deletions commonly lead to?

A

Frameshift

30
Q

How can insertions/deletions lead to frameshifts?

A

Insertion/deletion of 1/2/4/5/7/8 etc. bases

31
Q

What is a frameshift?

A

Downstream bases shift to right or left

gives different codons

32
Q

How do frameshifts affect the polypeptide? Why?

A

Different conformation due to different amino acid

Short, longer polypeptide due to early, later stop codon

33
Q

How can insertions/deletions not lead to frameshifts?

A

Insertion/deletion of 3/6/9 etc. bases

34
Q

Why do insertions/deletions of 3/6/9 etc. bases not lead to frameshifts?

A

Add or remove codons

but rest of codons remain the same

35
Q

How does an insertion/deletion of 3/6/9 etc. bases affect the polypeptide?

A

Different conformation due to extra or missing amino acids

36
Q

What are the types of translocations?

A

Reciprocal

Robertsonian

37
Q

What is an inversion?

A

Section of chromosome flipping over

38
Q

What is a duplication?

A

Section of chromosome copying itself

39
Q

What is a macro deleton?

A

Section of chromosome being lost

40
Q

How can mutations affect transcription?

A

Alter promoter activity

Alter mRNA splicing

41
Q

How can mutations affect translation?

A

Alter translation initiation

42
Q

What are the consequences of mutations affecting transcription, translation?

A

Change amount of produced

43
Q

How can mutations affect promoter activity of genes?

A

Affect binding of transcription factors, RNA polymerase

44
Q

How can mutations affect mRNA splicing?

A

Alter intron-exon junction

affecting recognition by spliceosome

45
Q

How can mutations affect translation inititation?

A

Affect start codon AUG

recruitment of methionyl tRNA, ribosome

Cell Biology and Genetics (32 decks)

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