gene mutation Flashcards

1
Q

what does the term ‘mutation’ mean?

A

mutation is defined as the change in the sequence of DNA, number of chromosomes, or structure of chromosomes in an organism

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2
Q

what is a gene mutation?

A

a gene mutation is the change in the sequence of nucleotides of a gene

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3
Q

what may change in a gene mutation?

A

a gene mutation may change the sequence of amino acids in a polypeptide chain

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4
Q

what does a gene mutation affect?

A

this may affect the structure and function of the protein, and thus affecting the characteristic (phenotype) of the organism

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5
Q

what can a gene mutation give rise to?

A

a gene mutation can give rise to new alleles which code for potential new traits, and also result inheritable disease

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6
Q

what are the 3 types of gene mutation?

A
  1. substitution
  2. insertion
  3. deletion
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7
Q

what is the definition of ‘substitution mutation’?

A

a substitution mutation is defined as when 1 or more nucleotide(s) in the nucleotide sequence of the gene is or are replaced by other nucleotides

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8
Q

what is the definition of ‘insertion mutation’

A

an insertion mutation occurs when 1 or more nucleotide(s) is or are added into the nucleotide sequence of the gene

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9
Q

what is the definition of ‘deletion mutation’?

A

a deletion mutation occurs when 1 or more nucleotides(s) is or are removed form the nucleotide sequence of the gene

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10
Q

what is the most common type of gene mutation?

A

SUBSTITUION MUTATION

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11
Q

what are the 3 possible outcomes for a substitution mutation, depending on the position of the nucleotide affected?

A
  1. silent mutation
  2. missense mutation
  3. nonsense mutation
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12
Q

why does the substitution of 1 or more nucleotides may result in silent mutation?

A

this is because the genetic code is degenerate, whereby there are many different codons can still code for the same amino acid

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13
Q

why is the function of the protein unaffected by a silent mutation?

A

this is because the silent mutation results in no change of codon in the mRNA, resulting in the same amino acid with the same R group upon translation

hence, there is no change in the amino acid sequence of the polypeptide chain

therefore, the folding of the polypeptide chain into its precise, compact 3 dimensional conformation is not affected, and properties of the protein are unaffected.

as a result, the protein remains functional

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14
Q

what is the effect of a substitution mutation (formation of different amino acid(s)) on the mRNA sequence?

A

the nucleotide change in the gene will change the mRNA sequence upon translation

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15
Q

what is the effect of a substitution reaction (formation of different amino acid) on the mRNA?

A

this causes the codon(s) in the mRNA to change

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16
Q

what is the effect of the substitution reaction (formation of different amino acid) on the amino acid sequence of the protein?

A

this results in a different amino acid with a different R group upon translation, whereby, for example, a hydrophilic amino acid could be replaced by a hydrophobic amino acid

hence, the amino acid sequence of the polypeptide chain is now different

17
Q

what is the effect of a substitution mutation (formation of different amino acid) on protein folding and its property?

A

the folding of the polypeptide chain into its precise 3 dimensional conformation is now affected, hence the property of the protein is now different

18
Q

what is the effect of a substitution mutation (formation of different amino acid) on the structure of the protein?

A

the protein now becomes non-functional