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.
Molecular and Experimental Genetics
flashcards
Decks in class (10)
# Cards
-
Introduction to molecular and experimental genetics5
-
Chromosome and their abnormalities32
-
Sequence alteration at the gene level: mutations and polymorphisms30
-
Mutations: origin, patterns and implications43
-
Mendelian Inheritance and mitcohcondrial genetics28
-
Mutation rates in man28
-
Gene Expression 144
-
Molecular Pathology - Gene mutations22
-
Molecular pathology: consequences of gene mutations at gene regulation level22
-
Genetics now and into the future12
