A new potentially disease-causing \"Cystic Fibrosis\" mutation.
a) Report the position of the mutation that the PCR reaction will detect. Describe which base is
the one commonly found (also called wild-type) in the unaffected population and what it is
changed to in people with Cystic Fibrosis.
b) Explain where in the gene sequence this mutation is located and what is the predicted effect of
having this mutation. Use the +1 position as a reference for counting bases.
c) What can families learn from a genetic test that detects potential Cystic Fibrosis-causing
mutations?
d) Why is it useful to be able to test for genetic disease predisposition?
e) What should parents know about Cystic Fibrosis?
Solution
b) Mutations at the 508th position (DF508) in the CFTR gene located on human chromosome 7
cause CF . The effects of having this mutation include affected liver, kidney, pancreas and
intestine. Lung infections occur as the airways are clogged with mucus resulting in breathing
problems. Mucus secreted in pancreas does not allow the release of the important digestive
enzymes needed by the body to breakdown food and absorb vital nutrients. Other symptoms
include clubbing of fingers and toes, affected growth, infection in sinus.
d) Testing for genetic disease like CF beforehand determines the presence or absence of certain
mutations in the gene that can cause CF. So, it is useful to be able to test for genetic disease
predisposition.
e) A child that has inherited 1 copy of mutated CF gene inherited from each parent suffers from
Cystic Fibrosis. When any one of the parents is a carrier or have a family history of CF, they
must be genetically tested. Parents should be aware about this and go though the test..
A new potentially disease-causing Cystic Fibrosis mutation.a) .pdf
1. A new potentially disease-causing "Cystic Fibrosis" mutation.
a) Report the position of the mutation that the PCR reaction will detect. Describe which base is
the one commonly found (also called wild-type) in the unaffected population and what it is
changed to in people with Cystic Fibrosis.
b) Explain where in the gene sequence this mutation is located and what is the predicted effect of
having this mutation. Use the +1 position as a reference for counting bases.
c) What can families learn from a genetic test that detects potential Cystic Fibrosis-causing
mutations?
d) Why is it useful to be able to test for genetic disease predisposition?
e) What should parents know about Cystic Fibrosis?
Solution
b) Mutations at the 508th position (DF508) in the CFTR gene located on human chromosome 7
cause CF . The effects of having this mutation include affected liver, kidney, pancreas and
intestine. Lung infections occur as the airways are clogged with mucus resulting in breathing
problems. Mucus secreted in pancreas does not allow the release of the important digestive
enzymes needed by the body to breakdown food and absorb vital nutrients. Other symptoms
include clubbing of fingers and toes, affected growth, infection in sinus.
d) Testing for genetic disease like CF beforehand determines the presence or absence of certain
mutations in the gene that can cause CF. So, it is useful to be able to test for genetic disease
predisposition.
e) A child that has inherited 1 copy of mutated CF gene inherited from each parent suffers from
Cystic Fibrosis. When any one of the parents is a carrier or have a family history of CF, they
must be genetically tested. Parents should be aware about this and go though the test.
