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.
2
Q
What are the generic stages of treatment for cancer?
A
Targeted screening
preventive surgery
personalised medicine
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
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.
5
Q
What common variant affects the risk of myocardial infarction?
A
Variant on chromosome 9p21 affects the risk of myocardial infarction.