DNA Mutations Flashcards

1
Q

Where do mutations occur when they are
- Somatic
- Germ-line
- Autosomal
- X-linked and Y-linked

A

Somatic - any cell except germ cells
Germ-line - Gametes
Autosomal - Autosomes
X + Y - linked - Genes on the X and Y chromosomes

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2
Q

What are the 3 point mutations and what are the outcomes

A

Silent - new codon still codes for the same AA
Missense - new codon codes for different AA
Nonsense - new codon codes for a stop codon

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3
Q

Point mutations can be transitions or transversions - explain

A

Transition - Pyrimidine replaces a pyrimidine and purine replaces purine
Transversion - Pyrimidine and purine are interchanged

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4
Q

What is the reason for a frameshift mutation

A

Insertion or deletion of base

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5
Q

Give 3 examples of diseases caused by mutations and the type of mutation that ocurred

A

Sickle-cell anemia - base substitution
Muscular dystrophy - insertion or deletion
Cystic fibrosis

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