Mutation Flashcards

1
Q

What is a mutation

A

Random change in genetic material (DNA) of a cell

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2
Q

What are the 4 types of mutation based on their effect

A

Lethal - causes death
Conditional - shows effects only under specific conditions
Loss-of-function
Gain-of-function

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3
Q

What is a gene mutation (point mutation) + examples

A

Change in DNA sequence involving one or a few nucleotides
E.g. Insertion, substitution, deletion etc

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4
Q

What is point (substitution) mutation and what are its types

A

A mutation where one base replaces another in DNA

Silent - no protein change
Missense - changes one amino acid
Nonsense - creates a stop codon

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5
Q

What is chromosome mutation + example

A

Changes in the number or structure of chromosomes
E.g. inversion, deletion, duplication, non-disjunction etc

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6
Q

What is non-disjunction and what does it cause

A

When chromosome fail to separate properly during cell division, so gametes have too many or too few chromosomes

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7
Q

What is genetic (gametic) mutation

A

Mutation in gamete producing cells
Affects every cell in offspring

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8
Q

What is a somatic mutation

A

Mutation in body cells occuring after fertilisation

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