L-24 Flashcards
What is a mutation?
Mutations are permanent changes to the base sequence of DNA that can be inherited or acquired.
What is the name for inherited mutations?
Germline mutations
Are somatic mutations passed on to the next generation?
No
What effect does the vast majority of mutations have?
None
What can the outcome of a mutation depend on besides the genome?
- environmental effects
- genetic background
How do we classify mutations?
- dominant vs recessive
- loss of function vs gain of function
What does a loss of function mutation do?
Breaks a gene to cause it not to work as well as normal, or not at all
Are loss of function mutations usually dominant or recessive?
Recessive
What do gain of function mutations do?
Cause a gene to work too well , or do something unexpected
Are gain of function mutations usually dominant or recessive?
Dominant
What are monogenic diseases?
Mutations controlled by a singular gene
What is Haemophilia?
A disorder of blood clotting
Which is the most common version of haemophilia?
A
What proportion of males worldwide have haemophilia A?
1/5000
What is haemophilia A a result of?
Imparted or absent clotting factor VIII
What are the clinical differences between haemophilia A and B?
There are none