Unit 1 KA4 Mutations Flashcards

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1
Q

What is a mutation?

A

A change in an organisms DNA which can result in no protein or an altered protein being synthesised

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2
Q

How can the rate of mutation be increased?

A

By exposure to mutagenic agents

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3
Q

What are mutagenic agents?

A

Chemicals or radiation that can damage DNA, causing mutations

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4
Q

Examples of muatgenic agents:

A

Mustard Gas, UV, X-rays, Gamma rays

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5
Q

What is a genetic disorder?

A

A condition or disease directly related to the individualโ€™s genotype

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6
Q

What are single gene mutations?

A

A mutation that only effects one gene

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7
Q

What are the 3 types of single gene mutation?

A

Substitution
Insertion
Deletion

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8
Q

What is a substitution mutation?

A

When one base is replaced with another

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9
Q

What is a insertion mutation?

In terms of single gene mutations

A

An amino acid or group of amino acids being added in

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10
Q

What is a deletion mutation?

In terms of a single gene mutation

A

When a specific base is removed

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11
Q

What is a missense mutation?

A

When one amino acid is replaced with another

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11
Q

What are the three types of nucleotide substitutions?

A

Missense, Nonsense and Splice-Site

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12
Q

What is a nonsense mutation?

A

A stop codon being produced prematurely, resulting in a shortened protein

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13
Q

What is a splice-site mutation?

A

When some introns are retained or exons removed in the mature RNA transcript

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14
Q

What are the 4 types of chromosome mutations?

A

Deletion
Duplication
Translocation
Inversion

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15
Q

What is a chromosomal deletion mutation?

A

A section of the chromosome is removed

16
Q

What is a chromosomal Duplication mutation?

A

When a section of the chromosome is added from its homologous partner

17
Q

What is a chromosomal translocation mutation?

A

When a section of a chromosome is added to another chromosome that is not its homologous partner

18
Q

What is a chromosomal inversion mutation?

A

When a section of chromosome is reversed

19
Q

Why are chromosomal mutations often lethal?

A

Because the substantial changes to so many genes often stop critcal processes required for the body to function