Human Bio Unit 2 - Mutation

Question 0

What is a mutation?

Answer 0

A change of bases in an individual gene or in the structure of a chromosome

Question 1

Causes of mutation?

Answer 1

X-rays

Ionising radiation

Chemicals

Cell division gone wrong

Question 2

What type of cells can mutation occur in?

Answer 2

Both somatic cells and gametes

Question 3

What are the chances of a mutation?

Answer 3

Very small

Question 4

Types of mutation

Answer 4

Deletion

Substitution

Duplication

Addition

Question 5

Deletion

Answer 5

Where a section of the chromosome is deleted

Cause all bases after to move down one

Question 6

Substitution

Answer 6

Where a base is replaced by another

Question 7

Duplication

Answer 7

Existing gene copied and added on as an extra part of the sequence

Question 8

Addition

Answer 8

Extra bases are added

Question 9

Cystic Firbosis

Answer 9

Mutation causes the deletion of 3 bases in DNA. One amino acid (phenylalanine) is not coded for in the Cystic Fibrosis Transmembrane Regulator CFTR protein

Question 10

Phenylketonuria (PKU)

Answer 10

Gene mutation in DNA coding for the enzyme phenylalanine hydroxylase

Phenylalanine hydroxylase not produced

Amino acid phenylalanine cannot be converted to the amino acid tyrosine

Tyrosine is necessary to produce the pigment melanin

Phenylalanine collects in the blood and causes retardation in young children

Question 11

How can you manage Phenylketonuria?

Answer 11

Change your diet so it doesn’t include any proteins that contain phenylalanine

Question 12

What enzyme is not produced by a Phenylketonuria sufferer?

Answer 12

Phenylalanine hydroxylase

Question 13

What is phenylalanine converted to?

Answer 13

Tyrosine

Question 14

Down syndrome

Answer 14

Entire extra chromosome 21

Question 15

Possible effects of mutation

Answer 15

Produces new superior protein

No change

Produces an inferior or no protein at all - normally fatal