Question: Part C – Why do certain mutations cause cystic fibrosis?
Cystic fibrosis is the most common letha…
Part C – Why do certain mutations cause cystic fibrosis?
Cystic fibrosis is the most common lethal genetic disease in the
United States. It strikes one out of every 2,500 people of European
descent, though it is less common in other groups. Cystic fibrosis
is the result of mutations in the cystic fibrosis transmembrane
conductance regulator (CFTR) gene. Over 1,800 different mutations
have been identified that can cause cystic fibrosis. People who
inherit two recessive CFTR alleles have the disease.
Below is a partial mRNA and amino acid sequence for the
wild-type CFTR protein.
In this activity, you will examine two specific
nucleotide-pair deletion mutations that affect this region of the
CFTR sequence: [delta]F508 and 1660delG.
Drag the amino acids to the white targets to indicate what each
mRNA codon codes for. (You will probably need to consult the codon
table for mRNA.)
Drag the blue labels to the blue targets to indicate the effect
on the polypeptide’s primary structure. Be sure to compare the
mutant amino acid sequence to the wild-type sequence above.
Labels may be used once, more than once, or not at all.