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Higher Human Bio - Unit 1 (Cell Biology) > Mutations > Flashcards

Flashcards in Mutations Deck (10)
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1

A mutation is

a change in DNA (which can result in no protein or an altered protein being made)

2

Substitution, Insertion and Deletion are known as

Single Gene Mutations

3

The three 3 types of substitution mutations are

Missense, Nonsense and Splice Site

4

What is a frameshift mutation?

A mutation that alters all the codons and amino acids after the mutation (eg Insertion/Deletion)

5

What type of substitution results in a premature stop codon being produced?

A Nonsense mutation

6

What type of substitution results in some introns being included in the mature transcript?

A splice-site mutation

7

The 4 chromosome structure mutations are

Duplication, Deletion, Inversion and Translocation

8

Why are Chromosome mutations often lethal?

They lead to substantial changes

9

Inversion occurs when

a section of chromosome is reversed

10

Translocation occurs when

a section of chromosome is added to another chromosome (that is not it's homologous partner)