Mendelian Inheritance Flashcards
Cause of sickle cell disorders (SCD)
Inherited
Affect of sickle cell disorders
RBC become sickle cell shaped which can cause pain tissue damage, infection and death
Possible treatment for SCDs
Early treatment by 2months old can improve health and prevent death
What are the chances of a child being a carrier for a disease if both parents are carriers?
2/3 - not out of four as you know she is not affected if she may or may not be a carrier
Chances of child being a carrier if one parents is a carrier and the other is not affected nor a carrier?
1/2
Principles of autosomal dominant inheritance
- 50% chance of inheriting mutation
- No skipped generations
- Male to male transmission
in Auto. Dom., If parents not affected by condition then not carriers - what are the chance of baby inheriting mutation?
No chance
Examples of autosomal Dom. inheritance diseases
- Achondroplasia: dwarfism
- Huntington’s disease: neurodegenerative
Principles of X-linked inheritance
- Only males effected classically
- Can skip generations
- No male to male transmission
Example of X-linked condition
Duchenne muscular dystrophy
Affects of cystic fibrosis
- Lungs: mucus build up
- Skin: salty sweat
- Liver: blocked biliary ducts
- Pancreas: duct blocked
- intestine: can’t absorb nutrients
- Reproductive: women reduced fertility
