mutations 1.6

Question 1

what is a mutation

Answer 1

change in the genome which can result in no protein or an altered protein being expressed

Question 2

what causes a mutation

Answer 2

in the absence of outside influences mutations occur spontaneously and at random

Question 3

what are the three types of single gene mutation

Answer 3

deletion
insertion
substitution

Question 4

what is s frameshift mutation

Answer 4

deletion and insertion mutations.
nucleotide insertions or deletions lead to a major change in the sequence of amino acids

Question 5

what is a deletion mutation

Answer 5

involve the deletion of nucleotide from DNA sequence of the gene

Question 6

what is an insertion mutation

Answer 6

involve the insertion of a nucleotide into the DNA sequence of the gene

Question 7

what is a substitution mutation

Answer 7

where one base is swapped for a different base, only affects one codon

Question 8

what can substitution mutation be split up into

Answer 8

missense
nonsense
splice site mutation

Question 9

what is a missense mutation

Answer 9

one amino acid codon is replaced with another. Protein may be non functional or the mutation may have little effect on the protein

Question 10

what is a nonsense mutation

Answer 10

codes for a premature ‘stop’ codon instead of an amino acid codon

Question 11

what’s a splice site mutation

Answer 11

single gene mutation at a splice site could result in an intron being left in the mature mRNA transcript or an exon not being included.

Question 12

what are the types of chromosome structure mutations

Answer 12

deletion
duplication
inversion
translocation

Question 13

what is duplication

Answer 13

when a section of chromosome is either inadvertenty copied twice during DNA replication, or is the section deleted from its partner chromosome added into the chromosome giving two copies of this section and the gene it contains