Mendelian Inheritance Flashcards
What do disease associated mutations alter?
Protein function
What type of carrier is less prone to getting malaria?
Sickle cell disorder.
What do carriers have in terms of genes?
One fully functioning
One partially/not functioning
What type of gene mutation is cystic fibrosis?
Single
How many people in the UK are carriers of cystic fibrosis?
1 in 25
If one parent is a carrier of cystic fibrosis, what is the fraction of them having a baby which is affected?
1/100
1 in 4 chance of child getting it, times 1 in 25 chance of having cystic fibrosis
If both parents are carriers, and their sibling is affected, what is the chance of someone being a carrier?
2/3
What is achondroplasia?
Abnormality in one of the genes which makes an abnormal protein, upsetting growth of bone.
What is a dominant disease?
Dominant allele causes disease instead of recessive.
If an affected parent and an unaffected parent had a child, what is the chances the child would be affected with a dominant disease?
1/2
What type of disease is Huntingtons?
Autosomal dominant
What type of disease is Duchenne muscular dystrophy?
X-linked.
If a dad was affected and a mother not, what are the chances of a son having an x-linked disease?
0
If a dad was affected and a mother not, what are the chances of a daughter having an x-linked disease?
1
If a mother was affected and a dad not, what are the chances of any child having an x-linked disease?
1/2
