mendelian inheritance week 8 Flashcards
1
Q
what is sickle cell disorder
A
autosomal recessive disease
2
Q
on average how many people in the UK are a carrier of cystic fibrosis
A
1/25
3
Q
how many people are affected by cystic fibrosis
A
1/2500
4
Q
what is cystic fibrosis
A
autosomal recessive disease
5
Q
what is achondroplasia
A
autosomal dominant disease - type of dwarfism
6
Q
what is Huntington’s disease
A
autosomal dominant
neurodegenerative
7
Q
what is Duchenne muscular dystrophy
A
X linked disease
fatal in early life
8
Q
what is haemophilia
A
X linked disease
9
Q
how does X linked inheritance work
A
- so say father has haemophilia, this condition is x linked (nothing to do with Y chromosome) and the mother does not have haemophilia then only the daughter can inherit haemophilia because the sons have to get the Y chromosome from dad to be male (remember, dad Y chromosome nothing to do with haemophilia as it is X linked). 50% chance that daughter will have haemophilia but all daughters will be carriers because of X from dad
- if mother has haemophilia and dad doesn’t then 50% chance that son will have haemophilia and 50% chance daughter will have haemophilia
10
Q
what is an obligate carrier
A
a person in a family we know must have to be a carrier of a mutation because they could only recieve a mutated chromosome from their parent
11
Q
is there male to male transmission is X linked inheritance
A
no
