Human Cells Unit 1 KA 4

Question 1

What is a Mutation?

Answer 1

A mutation is a change in structure or composition of an organsisms DNA which can result in no protein or an altered protein being synthesised

Question 2

What is a Mutant?

Answer 2

A mutant is an indiviudal affected by a change in genotype that produces a change in phenotype

Question 3

Mutation rates ____ from gene to gene, and from species to species

(Fill in the blank)

Answer 3

Mutation rates vary from gene to gene, and from species to species

Question 4

How can Mutations be increased?

Answer 4

Mutations can be increased by mutagenic agents and radiation

(Mustard gas) (X-rays, UV light, Gamma Rays)

Question 5

What is a Genetic disorder?

Answer 5

A genetic disorder is a condition or disease, that is directly related to the individual’s genotype

Question 6

What do Single gene mutations involve?

Answer 6

Single gene mutations involve the alteration of a DNA nucleotide sequence

Question 7

What is a Point mutation?

(Single gene mutation)

Answer 7

A point mutation is a mutation where one nucleotide is affected

(Inserted, deleted, substituted)

Question 8

What are the three types of Nucleotide substitutions?

(Single gene mutation) (Point mutation)

Answer 8

1) Missense
2) Nonsense
3) Splice-site

Question 9

What is Missense?

(Nucleotide substitution)

Answer 9

Missense is when one amino acid is replaced with another

Question 10

What is Nonsense?

(Nucleotide substitution)

Answer 10

Nonsense is when a premature stop codon is produced resulting in a shorter protein

Question 11

What is Splice-site?

(Nucleotide substitution)

Answer 11

Splice-site is when some introns are retained and some exons aren’t included

Question 12

How big is the effect of Nucleotide Substitutions?

Answer 12

Nucleotide substitutions have little effect on the protein

Question 13

What cause Frameshift mutations?

(Single gene mutation)

Answer 13

Frameshift mutations are caused by insertion or deletion of a DNA nucleotide in a sequence

Question 14

What happens to the total number of nucleotides after Insertion/deletion?

(Single gene mutation) (Frameshift mutation)

Answer 14

The total number of nucleotides increases/decreases after insertion/deletion

Question 15

What happens to all of the codons in a sequence after a Frameshift mutation?

Answer 15

After a frameshift mutation, all the codons after the insertion/deletion are changed

Question 16

How big is the effect of Frameshift mutations?

Answer 16

Frameshift mutations have a major effect on the protein

Question 17

What are the four types of Chromosome mutation?

Answer 17

1) Deletion
2) Duplication
3) Translocation
4) Inversion

Question 18

What is Deletion?

(Chromosome mutation)

Answer 18

Deletion is when a section of chromosome is removed

Question 19

What is Duplication?

(Chromosome mutation)

Answer 19

Duplication is when a section of a chromosome is added from its homologous partner

Question 20

What is Translocation?

(Chromosome mutation)

Answer 20

Translocation is when a section of a chromosome is added to another chromosome that is not its homologous partner

Question 21

What is Inversion?

(Chromosome mutation)

Answer 21

Inversion is when a section of a chromosome is reversed

Question 22

How big is the effect of a Chromosome mutation?

Answer 22

Chromosome mutations have a substantial effect, this often makes them lethal