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.
[Partial sequence of 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.
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