DNA mutations and Analysis Flashcards

1
Q

What are germline mutations?

A

Inherited mutations of gametes

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2
Q

What are Somatic mutations?

A

Mutations in cells that won’t be passed to future generations

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3
Q

What are Silent mutations?

A

Small mutations that don’t result in major harm, e.g. one amino acid change that still codes for the right amino acid

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4
Q

What are Missense mutations?

A

The correct amino acid is replaced with an incorrect amino acid

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5
Q

What are Nonsense mutations?

A

Mutations that result with a correct amino acid being replaced with a stop sequence, stopping the protein production prematurely.

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6
Q

What are frameshifts?

A

One base is deleted or added which changes the whole sequence.

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7
Q

What is the primary function of PCR?

A

To produce large amount of DNA from small amounts.

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8
Q

What is the function of Gel electrophoresis?

A

DNA fragments are separated by a magnetic field so we can visualise them to spot similarities.

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9
Q

What is RFLP?

A

DNA is cut into fragments and then analysed with Gel Electrophoresis

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10
Q

What is ARMS?

A

Normal and mutant primers are used with sample strands of DNA to see if there is replication. If mutant primers anneal, then it has a mutation. Needs electrophoresis.

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11
Q

What are 4 common examples of DNA analysis?

A

PCR, Gel Electrophoresis, RFLP and ARMS

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