Misc genetic abnormalities Flashcards
1
Q
What type of genetic condition is cystic fibrosis?
A
An autosomal recessive condition
2
Q
If two unaffected parents’ first child has cystic fibrosis what is the likelihood their second child will have cystic fibrosis?
A
25%
3
Q
Dysfunction in what membrane component is responsible for the symptoms of cystic fibrosis?
A
The CF transmembrane conductance regulator chloride channel
4
Q
What are the four main organisms that colonise CF patients?
A
Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia and Aspergillus