L23- Genetic Variations and Mutations Flashcards

1
Q

What is transition?

A

Replacement in Purine group

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2
Q

What is Transversion?

A

Replacement from pyrimidine group to purine

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3
Q

What is a non-sense mutation?

A

When the mutation codes for a stop codon

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4
Q

What is Trinucleotide repeat expansion?

A

when a sequence of 3 bases is repeated in tandem

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5
Q

What are splice site mutations?

A

Mutations occurring during splicing of pre-mRNA

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