Mutations Flashcards

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1
Q

Transposable elements?

A

A sequence of DNA that jumps from one location in the genome to the other.

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2
Q

Transition vs tranversion?

A

Transition - change to the same type of base e.g. Purine to purine - little effect on DNA structure.
Transversion - base change to a different type of bases e.g. Purine to pyrimidine

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3
Q

What bases change occurs in sickle cell anaemia?

A

One base substitution mutation (missense).

GLU - VAL

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4
Q

What are some symptoms of sickle cell?

A

Anaemia
Susceptible to infections
Weakness
Impaired growth

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5
Q

What is a missense mutation?

A

A base change resulting in an amino acid change

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6
Q

What is. Silent/neutral/synonymous mutation?

A

Mutations that DON’T have an effect.

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7
Q

What is frameshift mutation?

A

Inversion/ deletions no divisible by three - so pushes frame to the right.

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8
Q

What is a nonsense mutation?

A

Creates a stop codon.

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