Unit 1-KA4

Question 1

Explain what is meant by a ‘mutation’

Answer 1

changes in the structure or amount of an organisms DNA

can result in no protein or an altered protein being synthesised

Question 2

Single gene mutations

Answer 2

alteration of a DNA nucleotide sequence 
substitution-
missense nonsense splice site
insertion
deletion

Question 3

Chromosome structure mutation

Answer 3

alterations to the structure of a chromosome
duplication 
deletion
inversion
translocation

Question 4

Frameshift

Answer 4

insertion and deletion

all corona and amino acids after mutation is changed-major effect on the structure of the protein produced

Question 5

missense

Answer 5

single nucleotide change-codon codes for a different amino acid
may result in a nonfunctional protein or have little effect on protein

Question 6

nonsense

Answer 6

codon for amino acid is replaced by a stop codon

shorter, unfinished protein

Question 7

splice site

Answer 7

mutation in area that marks the start or end of an intron

one or more introns not being removed or some exons not included in mature transcript

Question 8

insertion

Answer 8

nucleotide is added to DNA sequence

Question 9

deletion

Answer 9

nucleotide is removed from DNA sequence

Question 10

duplication

Answer 10

section of chromosome is added from its homologous partner

Question 11

deletion

Answer 11

section of chromosome is removed

Question 12

inversion

Answer 12

section of chromosome is reversed

Question 13

translocation

Answer 13

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