mutations 1.6 Flashcards

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1
Q

single gene mutation

A

alteration of a dna nucleotide sequence

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2
Q

chromosome structure mutation

A

affect the structure of one or more chromosome

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3
Q

substitution

A

replacement of one or more nucleotides

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4
Q

insertion

A

addition of one or more nucleotides

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5
Q

deletion

A

removal of one or more nucleotides

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6
Q

only affects one nucleotide so only one amino acid in the polypeptide

A

substitution

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7
Q

missense (substitution)

A

changes one amino acid and so usually only results in a minor change to the protein structure

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8
Q

nonsense

A

only part of the protein is made as a premature stop codon is produced the protein is shorter so has the incorrect shape and function

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9
Q

splice site mutation

A

intron removal ad exon splicing effected. introns are not cut out or some exons are not retained as they should be

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10
Q

what happens if introns are read during translation

A

the protein will have extra amino acids so will alter the sequence therefore shape and function of the protein

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11
Q

frame shift mutations

A

deletion and insertion

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12
Q

what is a frame shift mutation

A

affects all codons after the point of mutation so all amino acids after this point are different

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13
Q

translocation mutation

A

a section of. chromosome is added to a chromosome, not its homologous partner

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14
Q

a section of. chromosome is added to a chromosome, not its homologous partner

A

translocation mutation

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15
Q

inversion mutation

A

section of chromosome is reversed

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16
Q

section of chromosome is reversed

A

inversion mutation

17
Q

what happens in an inversion mutation

A

the chromosome breaks in two places and the segment turns around 180 before joining up again the normal sequence of genes is reversed

18
Q

deletion mutation (chromosome)

A

section of a chromosome is removed have a major effect on the organism

19
Q

duplication mutation

A

section of chromosome is added from its homologous partner and genes are repeated on a chromosome

20
Q

duplication mutation

A

section of chromosome is added from its homologous partner and genes are repeated on a chromosome

21
Q

section of chromosome is added from its homologous partner and genes are repeated on a chromosome

A

duplication mutation