Mutation Flashcards
What is a mutation
Random change in genetic material (DNA) of a cell
What are the 4 types of mutation based on their effect
Lethal - causes death
Conditional - shows effects only under specific conditions
Loss-of-function
Gain-of-function
What is a gene mutation (point mutation) + examples
Change in DNA sequence involving one or a few nucleotides
E.g. Insertion, substitution, deletion etc
What is point (substitution) mutation and what are its types
A mutation where one base replaces another in DNA
Silent - no protein change
Missense - changes one amino acid
Nonsense - creates a stop codon
What is chromosome mutation + example
Changes in the number or structure of chromosomes
E.g. inversion, deletion, duplication, non-disjunction etc
What is non-disjunction and what does it cause
When chromosome fail to separate properly during cell division, so gametes have too many or too few chromosomes
What is genetic (gametic) mutation
Mutation in gamete producing cells
Affects every cell in offspring
What is a somatic mutation
Mutation in body cells occuring after fertilisation