Introduction to molecular and experimental genetics Flashcards

1
Q

what are the effects of inherited mutations?

A

Small where the genetic variant is common.

Large in the case of very rare mutations.

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2
Q

What are the generic stages of treatment for cancer?

A

Targeted screening
preventive surgery
personalised medicine

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3
Q

what are the importance of genetics and genomics?

A
Allows us to determine how various diseases and autoimmune diseases arise and how we could treat them. 
Cancer
Type 2 diabetes
cardiovascular disease
psychiatric disorders
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4
Q

What is a de novo mutation?

A

A mutation that is present for the first time in one family member as a result of a variant (mutation) in a germ cell of one of the parents.

A new mutation/variant.

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5
Q

What common variant affects the risk of myocardial infarction?

A

Variant on chromosome 9p21 affects the risk of myocardial infarction.

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