Mendelian Inheritance Flashcards
1
Q
What do disease associated mutations alter?
A
protein function
2
Q
What cause sickle cell disorders?
A
abnormal HB gene
3
Q
Describe SCD.
A
- cause red blood cells to become sickled in shape
- cause pain, cold, dehydration and infections
- jaundice, stroke, leg ulcers, eyes and kidneys affected
- most prominent in Africa, Med, Middle-East and India
- can cause issues with anaesthetic
4
Q
Describe the prevalence of CF.
A
- There is a north-west to south-east gradient across Europe
- 1/25 in UK a carrier
- 1/2500 affected
5
Q
Rules of a pedigree
A
- Boys square
- Girls circle
- Diagonal line= deceased
- Shaded-affected
6
Q
Describe autosomal dominant inheritance.
A
- Each child has a 50% chance of inheriting the mutation
- no skipped generations
- equally transmitted by men and women
- male to male transmisision
7
Q
How can Huntington’s be described?
A
- autosomal dominant
- neuro-degenerative
8
Q
What is the genetics behind Duchenne Muscular Dystrophy??
A
X linked
9
Q
Describe X linked/ sex linked inheritance.
A
- only males affected classically
- can skip generations
- unaffected women and affected men can transmit condition
- no male to male transmission
10
Q
What is the genetics behind Achondroplasia?
A
autosomal dominant inheritance
