UNIT 1 - KA4 Flashcards

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1
Q

What are mutations

A

Mutations are changes in the DNA that can result in no protein or an altered protein being synthesised

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2
Q

What is a mutation the change of

A

A mutation is a change to the genetic structure of an organism

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3
Q

What is a genetic disorder

A

A genetic disorder is a condition or a disease that can be show to be directly related to an individuals genotype

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4
Q

What is a chromosomal structure mutation

A

chromosomal structure mutations which involve a change in the structure of a chromosome ( this means a lot of genes are involved not just one)

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5
Q

What is single gene mutation a result of

A

Single gene mutations involve the alteration of a DNA nucleotide sequence as a result of substitution , insertion or deletion of nucleotides

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6
Q

What are the types of mutations all caused by substitution (single gene mutation)

A

1- missense
2- nonsense
3- splice site mutations

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7
Q

Missense mutation

A

Missense mutations result in one amino acid being changed for another. This may result in a non - functional protein or have little effect on the protein

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8
Q

Nonsense mutations

A

Nonsense mutations result in a premature stop codon being produced which results in a shorter protein

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9
Q

Splice site mutations

A

Splice site mutations result in some introns being retained and/or some exons not being included in the mature transcript

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10
Q

What are the frame shift mutations

A

Nucleotide insertions or deletions result in FS mutations

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11
Q

What effect does frame shift mutation have on the protein

A

As a result it is highly likely that the altered protein will not be able to function properly

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12
Q

What is the effect of substitution mutations compared to insertion and deletion mutations on the protein produced

A

Frame shift mutations (caused by insertion and deletion) cause all of the codons and all of the amino acids after the mutation to be changed. Whereas substitution mutations only effect a single amino acid

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13
Q

What are the chromosome structure mutations

A

The mutations can be classes as : duplication, deletion, inversion and translocation

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14
Q

What is deletion

A

Deletion is where a section of a chromosome is removed

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15
Q

What is duplication

A

Duplication is where a selection of a chromosome is added from its homologous parter

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16
Q

What is inversion

A

Inversion is where a section of chromosome is reversed

17
Q

What is translocation

A

Translocation is where a section of a chromosome is added to a chromosome, not it’s homologous partner

18
Q

What do the substantial changes in chromosome structure mutations make them

A

The substantial changes in chromosome structure mutations often make them lethal

19
Q

Why do chromosome mutations have a lethal effect

A

Chromosome mutations have a lethal effect as the changes to the genetic material are substantial (and effects a lot of genes)

20
Q

What is a single gene mutation

A

single gene mutations which involve the alteration of DNA nucleotide sequence within a single gene

21
Q

What are frameshift mutations

A

As mRNA is read as a series of codons, insertion or deletion of a nucleotide causes every codon from the site of mutation to be altered and therefore every amino acid coded for will be altered.