Unit 1.4 Gene mutations Flashcards

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1
Q

What is a missense mutation?

A

A substitution mutation where one amino acid codon is replaced with another, meaning one amino acid will be changed from another in the protein chain

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2
Q

What is a mutagenic agent?

A

A substance which artificially increases mutation rate

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3
Q

What is a mutation?

A

A change in the DNA structure or composition which causes a change in the phenotype

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4
Q

What is an example of a missense mutation?

A

sickle cell disease

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5
Q

What is a nonsense mutation?

A

Also a substitution mutation where one nucelotide is replaced with a premature stop codon which results in a shorter protein

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6
Q

What is an example of a nonsense mutation?

A

Duchenne muscular dystrophy

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7
Q

What is a splice site mutation?

A

This mutation may alter the codons that trigger the removal of introns in translation, resulting in some introns being retained and/or some exons being excluded from the mature mRNA transcrip

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8
Q

What is an example of a splice site mutation?

A

Beta-Thalassemia

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9
Q

What is a deletion mutation? (FRAMESHIFT)

A

A nucleotide is removed from the sequence. This causes all the codons and therefore all the amino acids after the mutation to be changed

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10
Q

What is an example of a deletion mutation? (FRAMESHIFT)

A

Cystic Fibrosis

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11
Q

What is an insertion mutation? (FRAMESHIFT)

A

An extra nucleotide is added to the sequence. This causes all of the nucleotides and therefore all the amino acids after this mutation to be changed

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12
Q

What is an example of an insertion mutation? (FRAMESHIFT)

A

Tay-Sachs Syndrome

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