Mutations

Question 1

What is a mutation?

Answer 1

Spontaneous change in the DNA base sequence

Can affect genes and therefore the proteins they code for

Question 2

What are the 5 main types of mutation?

Answer 2

Deletion
Duplication
Inversion
Translocation 
Substitution

Question 3

What is a deletion mutation?

Answer 3

Removing base/s

Frame shift (to the left)

Question 4

What is a Duplication mutation?

Answer 4

Repeating bases

Question 5

What is an inversion mutation?

Answer 5

DNA segment reversed

Paracentric - outside centromere
Pericentric - include centromere

Question 6

What is a translocation mutation?

Answer 6

Exchange with non homologous chromosome

Question 7

What are the 2 types of substitution mutations and what do they code for?

Answer 7

Missense - change causes new AA to be coded for Eg. HbA to HbS
Nonsense- change causes premature stop codon forming

Question 8

What are the 3 things mutations can be?

Answer 8

Polymorphisms (non pathogenic, no change)
Gene pathogenic, affects gene products (proteins)
Whole chromosomes, numerical and structural changes

Question 9

What does the karyotype show?

Answer 9

The number and appearance of chromosomes in a cell

Question 10

What does an ideogram show?

Answer 10

Shows distinctive banding of chromosomes