1. Mutations Flashcards

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1
Q

Mutation define

A

Any change to the based (nucleotide) sequence of DNA

Caused by errors during dna replication

Can be increased by mutagenic agents

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2
Q

Substitution

A

One or more bases swapped for another

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3
Q

Deletion

A

One or more based removed

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4
Q

Addition

A

One or more based added

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5
Q

Duplication

A

One or more bases reputed

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6
Q

Inversion

A

A sequence of bases is reversed

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7
Q

Translocation

A

Sequence of bases is moved from one location in the genome to another

Within same chromosome

Or

Movement to different chromosome

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8
Q

What does the order of dna bases in a gene determine ? How does mutation impact it ?

A

Sequence of amino acids in a particulate polypeptide.

If mutation occurs in gene, sequence of amino acids in the polypeptide that it codes for could be changed and it could change final 3D shape of protein.
Stops working

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9
Q

How can mutation affects enzyme ?

A

Change the shape of enzymes active site

This will stop substrates from being able to bind to the active site

Enzyme unable to catalyse reaction

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10
Q

What is the mutation of the gene BRCA1, what can it increase ?

A

Chance of developing breast cancer

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11
Q

What can some mutations cause ?

A

Cancer

Genetic disorder like cystic fibrosis

These are called hereditary mutations as mutation is present in new Fetus and passed onto off spring

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12
Q

What is cystic fibrosis ?

A

Genetic disorder of cell memebranes it results in body producing lots of thick sticky mucus in air passages and pancreas

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13
Q

How do not all mutations affect the order of amino acids in protein ?

A

Degenerate nature of genetic code means that some amino acids are ceded for by more than one dna triplets

So not all types of mutation result in change to akinos cud’s sequences of polypeptide

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14
Q

Which 2 mutations may not cause change in amino acid sequence ?

A

Inversion

Substitution

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15
Q

What 3 mutations cause a change in amino acid sequence ?

A

Addition

Duplications

Deletions

Change number of basses causing FRAME SHIFT so code is read differently

Impacts the downstream amino acids

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