UNIT 1.6

Question 1

a mutation is a

Answer 1

change to the DNA that can result in no protein or an altered protein being produced (synthesised)

Question 2

single gene mutations

Answer 2

an alteration of a dna nucleotide sequence

Question 3

examples of single gene mutations

Answer 3

• substitution = one nucleotide is replaced for another
• deletion = loss of a nucleotide from a section of dna
• intention = addition of a nucleotide to a section of dna

Question 4

that single nucleotide substitutions can result in

Answer 4

• missense mutations = where one amino acid is changed for another resulting in a non functional protein
• nonsense mutations = where a stop codon is added to the mRNA too early resulting in a non functioning shorted proteins
• splice set mutations = where some introns are included and/or some exons are left out of the mature transcript

Question 5

that nucleotide insertions or deletions can result in

Answer 5

frameshift mutations = can cause a change to all the codons and all the amino acids after the mutations, which has a major effect on the structure of the protein produced

Question 6

chromosome structure mutations

Answer 6

are changes to that structure or number of chromosomes and affect a number of genes at a time

Question 7

CSM - duplication

Answer 7

where a section of chromosomes is added from an homologous partner resulting in duplicate copies of genes on a single chromosome

Question 8

CSM - deletion

Answer 8

where a section of chromosome is removed resulting in missing genes

Question 9

CSM - inversion

Answer 9

where a section of chromosome breals off and reattaches in the reverse direction, resuling in the genes being in the wrong location

Question 10

CSM - translocation

Answer 10

where a section of chromosome is added to another chromosome that is not the homologous partner, resulting in genes being in the wring location