Mutations Flashcards

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1
Q

What is the frequency of a mutation?

A

Arise spontaneously, at random and rarely

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2
Q

Name 3 mutagenic agents and state what these causes mutations

A

Mustard gas, X-rays and UV lights. Artificially increase rate of mutations

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3
Q

What is a genetic disorder?

A

A condition/disease that is directly related to an individual’s geno type

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4
Q

What must proteins have to function properly?

A

Correct sequence of amino acids

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5
Q

What is single gene mutation?

A

Alteration of a nucleotide sequence

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6
Q

What is point mutation?

A

Change in one nucleotide

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7
Q

What are the 3 different types of point mutation?

A

Substitution
Insertation
Deletion

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8
Q

What is a missense mutation?

A

Following substitution, an amino acid is coded for that makes sense but not original sense

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9
Q

What happens if one or more introns have been retained by modified mRNA?

A

Results in a protein that doesn’t function properly

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10
Q

What is a mutation?

A

Change in structure/composition of genome

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11
Q

What is frame shift mutation?

A

All amino acids are altered

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12
Q

What is chromosome structure mutation?

A

Brings about a change in the number of sequence of genes in a chromosome

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13
Q

Why is chromosome structure mutation often lethal?

A

Due to the loss of several functioning genes

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14
Q

What does this type of mutation involve?

A

The breakage of one or more chromosome; the broken end is sticky which can join together with another broken end

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15
Q

What are the 3 types of chromosome structure mutations?

A

Deletion
Duplication
Translocation

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16
Q

What happens in the chromosome structure of deletion?

A

A chromosome breaks in two places and a segment becomes detached

17
Q

Why does deletion normally have a drastic effect?

A

‘Shorter’ chromosome lacks certain genes

18
Q

What happens in duplication?

A

A segment of genes deleted from its matching partner becomes attached to one end of the first chromosome or inserted somewhere along its length

19
Q

What does duplication result in?

A

A set of genes being repeated

20
Q

What is duplication a common cause of?

A

Cancer

21
Q

What happens in translocation?

A

A section of one chromosome breaks off and becomes attached to another chromosome that is not its matching partner

22
Q

What is translocation the most common type of?

A

Mutation associated with cancer

23
Q

What are the two types of translocation?

A

Non reciprocal and reciprocal