6.1.1 Cellular control Flashcards

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1
Q

What is a mutation?

A

Change in sequence of of bases in DNA

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2
Q

What is a point mutation?

A

Only one nucleotide is affected

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3
Q

What three things causes a mutation?

A

Insertion
Deletion
Substitution

(of one or more nucleotides or base pairs)

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4
Q

What is a mis-sense mutation?

A

Different amino aicds in the sequence: two types are conservative and non-conservative

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5
Q

What is a conservative mis-sense mutation?

A

Changed amino acid is chemically similar to the the previous amino acid so secondary and tertiary structure is unaffected

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6
Q

What is a non-conservative mis-sense mutation?

A

Changed amino acid is chemically different to the previous amino acid and so secondary and tertiary structure is affected

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7
Q

What is a non-sense mutation?

A

Protein is truncated (due to STOP codon) so it is no longer functional

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8
Q

What is a silent mutation?

A

Shape of the protein/amino acid sequence is unaffected

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9
Q

Why does a silent mutation occur?

A

Due to the degenerate nature of the genetic code (multiple codons code form one amino acid)

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10
Q

What is an example of a silent mutation?

A

Base substitution

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11
Q

What is a frameshift mutation?

A

Every adjacent base shifts from the point of mutation

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12
Q

Why does a frameshift mutation occur?

A

Due to the non-overlapping nature of the genetic code (each codon is read separately)

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13
Q

What is an example of a frameshift mutation?

A

Base deletion
Base insertion

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14
Q

What are the types of chromosome mutations?

A
  • Deletion: section breaks off and is lost
  • Duplication: section gets duplicated
  • Translocation: section breaks off and joins another non-homologous chromosome
  • Inversion: section breaks off, is reversed and then joins back onto the chromosome
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15
Q

What is an example of a beneficial mutation

A

Lactose digestion

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16
Q

What is an example of a harmful mutation?

A

Cystic fibrosis

17
Q

What causes mutations in DNA?

A
  • Mutagens (increases rate)
  • Depurination (loss of purine base)
  • Depyrimidination (loss of pyrimidine)
18
Q

What are regulatory genes?

A

Control transcription

19
Q

What are structural genes?

A

Controls structural and functional uses

20
Q

What is an exon?

A

Part of the gene which stays and gets expressed

21
Q

What is an intron?

A

‘Junk’ DNA which needs to be taken out