Misc genetic abnormalities Flashcards

1
Q

What type of genetic condition is cystic fibrosis?

A

An autosomal recessive condition

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2
Q

If two unaffected parents’ first child has cystic fibrosis what is the likelihood their second child will have cystic fibrosis?

A

25%

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3
Q

Dysfunction in what membrane component is responsible for the symptoms of cystic fibrosis?

A

The CF transmembrane conductance regulator chloride channel

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4
Q

What are the four main organisms that colonise CF patients?

A

Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia and Aspergillus

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